WorldWideScience

Sample records for syndrome incidental finding

  1. Empty sella syndrome - beyond being an incidental finding

    Directory of Open Access Journals (Sweden)

    Vikrant Ghatnatti

    2012-01-01

    Full Text Available Introduction: Empty sella is characterized by the herniation of the subarachnoid space within the sella, which is often associated with some degree of flattening of the pituitary gland. This study was undertaken to evaluate the clinical and hormonal profile in patients with empty sella. Aims and Objectives: To evaluate the clinical and hormonal profile of the patients with an empty sella. Materials and Methods: Patients undergoing a CT/MRI at our center, for various reasons but with the finding of the empty sella were included in this study. A detailed history and clinical examination was done. Apart from routine tests, hormonal evaluation included serum thyroid stimulating hormone, T4, cortisol (8 am, prolactin, total testosterone, follicle stimulating hormone, leutinizing hormone, and fasting Insulin like Growth factor 1 (IGF 1 were done. Results: A total of 34 patients, diagnosed radiologically to have empty sella, were evaluated and of them 24 had primary empty sella (PES and 10 had secondary empty sella (SES. In subjects with PES, 12 out of 24 (50% had endocrine dysfunction. The most common endocrine dysfunction noted was hyperprolactinemia, which was seen in 5 (20.8% patients and the most common hormonal deficiency was isolated GH deficiency seen in four patients (12.5%. Conclusion: The high incidence of endocrine abnormalities in patients with PES mandates that these patients should routinely be subjected to endocrine evaluation to detect these deficiencies early, and appropriate replacement instituted where necessary, thus ensuring them of a better quality of life.

  2. [Incidental finding of proteinuria].

    Science.gov (United States)

    Galle, J

    2014-10-01

    A positive signal when testing urine for proteinuria is a frequent finding, either in the context of a routine medical check-up or when searching for a specific renal disorder. This brief overview aims to provide assistance in the classification of proteinuria and to provide guidance to the next diagnostic and therapeutic steps. The normal urine protein loss of a healthy adult is less then 150 mg/day. Higher rates of proteinuria should be confirmed as this is often a sign of glomerular or tubular damage. In addition, proteinuria is a strong prognostic factor for cardiovascular and total mortality. Principally, proteinuria is 1) a symptom of renal diseases, 2) a progression factor for renal diseases and 3) a risk factor for cardiovascular diseases and total mortality. In this article proteinuria is defined, the correlation to various renal diseases is described and the relevance for progression of renal diseases and total mortality is shown. Finally, diagnostic procedures are described and a perspective on therapeutic measures is provided.

  3. Autosomal Dominant Polycystic Kidney Disease, incidental finding ...

    African Journals Online (AJOL)

    Introduction: Pre-existing renal lesions predispose kidneys to effects of otherwise insignificant blunt trauma, and may uncommonly present as an incidental finding in the workup of a suspected renal injury. Observation: This is a case report of a 28-year-old male diagnosed incidentally with Autosomal Dominant Polycystic ...

  4. Fetal MRI: incidental findings in the mother

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    Abdullah, Selwan B. [University of Maryland Medical Center, Diagnostic Radiology and Nuclear Medicine, Baltimore, MD (United States); University of Minnesota, Medical School, Minneapolis, MN (United States); Dietz, Kelly R.; Holm, Tara L. [University of Minnesota, Department of Radiology, Minneapolis, MN (United States)

    2016-11-15

    Fetal magnetic resonance imaging (MRI) is a routinely used tool in prenatal diagnosis; however, there is a lack of studies evaluating incidental findings observed in the mother. This study describes and quantifies incidental findings observed in the mother during fetal MRI. We reviewed all fetal MRI studies at the University of Minnesota Medical Center from February 2008 to September 2014. Two pediatric radiologists retrospectively conducted a consensus evaluation. The maternal findings were categorized into neurologic, gynecologic, urinary, gastrointestinal and musculoskeletal. Hydronephrosis consistent with the stage of pregnancy was recorded but was not included as an abnormal finding. Abnormal findings were classified into three groups, depending on their clinical significance: level I (low), level II (medium) and level III (high). We evaluated 332 pregnant patients with a mean age of 29.3 years and a mean gestational age of 29 weeks. Of these, 55.4% had at least 1 incidental finding, for a total of 262 incidental maternal findings. Of the 262 abnormalities, 113 (43.1%) were neurologic, 69 were gynecologic (26.3%), 36 (13.7%) urinary, 24 (9.2%) gastrointestinal and 20 (7.6%) musculoskeletal. Of the 262 incidental findings, 237 (90.5%) were level I, 24 (9.2%) were level II and 1 (0.4%) was level III. Our results suggest that although the vast majority of incidental maternal findings are benign, more significant findings are still encountered and should be expected. (orig.)

  5. Renal Myxoma, an Incidental Finding

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    Parth Thakker

    2017-07-01

    Full Text Available Myxomas are mesenchymal tumors commonly found in the heart and skin. Renal myxomas are rare, having only been documented 14 times. Our case is a 55-year-old woman who presented to our clinic after a right renal mass was incidentally found on CT. Evaluation with MRI showed a mass that appeared to arise from the supero-medial cortex of the right kidney. As the imaging was concerning for renal cell carcinoma, the patient underwent a partial nephrectomy. Microscopic examination showed a well-circumscribed mass with polygonal to spindle-shaped cells in a granular eosinophilic cytoplasm. Immunohistochemical staining for CD-10, Desmin, HMB-45, and Pankeratin were negative.

  6. Incidental Cardiac Findings on Thoracic Imaging.

    LENUS (Irish Health Repository)

    Kok, Hong Kuan

    2013-02-07

    The cardiac structures are well seen on nongated thoracic computed tomography studies in the investigation and follow-up of cardiopulmonary disease. A wide variety of findings can be incidentally picked up on careful evaluation of the pericardium, cardiac chambers, valves, and great vessels. Some of these findings may represent benign variants, whereas others may have more profound clinical importance. Furthermore, the expansion of interventional and surgical practice has led to the development and placement of new cardiac stents, implantable pacemaker devices, and prosthetic valves with which the practicing radiologist should be familiar. We present a collection of common incidental cardiac findings that can be readily identified on thoracic computed tomography studies and briefly discuss their clinical relevance.

  7. Color vision and fatigue: an incidental finding.

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    Hovis, Jeffery K; Ramaswamy, Shankaran

    2007-11-01

    Because there is little information available as to how fatigue and color vision interact, we present some incidental findings on how a protanope and a color-normal perform on several color vision tests after 1 night of sleep deprivation. A series of clinically and occupationally based color vision tests were administered to a protanope and a color-normal subject after they had stayed awake all night and after a regular night's sleep. There was essentially no change in their performance on the clinical color vision tests; however, both did worse on the occupationally based color vision tests after 1 night of sleep deprivation. The color-normal made numerous errors in identifying colors displayed on a video display terminal, whereas the protanope had a large increase in errors on the CN Lantern Test. Both subjects passed these respective tests after a regular night's sleep. The primary reason for color-normal's poor performance on the video display terminal test was probably due to a decrement in his visuo-motor control rather than a loss in color discrimination. In contrast, the protanope's poor performance on the lantern test was probably due to the additive effects of the inherent limitations of his visual system and fatigue.

  8. Research malpractice and the issue of incidental findings.

    Science.gov (United States)

    Milstein, Alan C

    2008-01-01

    Human subject research involving brain imaging is likely to reveal significant incidental findings of abnormal brain morphology. Because of this fact and because of the fiduciary relationship between researcher and subject, board-certified or board-eligible radiologists should review the scans to look for any abnormality, the scans should be conducted in accordance with standard medical practice for reviewing the clinical status of the whole brain, and the informed consent process should disclose the possibility that incidental findings may be revealed and what consequences will follow. In the event such findings are revealed, qualified physicians should explain to the subject the significance of the findings and the alternatives available.

  9. Patients' views on incidental findings from clinical exome sequencing

    Directory of Open Access Journals (Sweden)

    Kristin E. Clift

    2015-03-01

    Full Text Available This article characterizes the opinions of patients and family members of patients undergoing clinical genomic-based testing regarding the return of incidental findings from these tests. Over sixteen months, we conducted 55 in-depth interviews with individuals to explore their preferences regarding which types of results they would like returned to them. Responses indicate a diversity of attitudes toward the return of incidental findings and a diversity of justifications for those attitudes. The majority of participants also described an imperative to include the patient in deciding which results to return rather than having universal, predetermined rules governing results disclosure. The results demonstrate the importance of a patient centered-approach to returning incidental findings.

  10. Incidental findings in musculoskeletal radiology; Zufallsbefunde in der muskuloskeletalen Radiologie

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    Wuennemann, F.; Rehnitz, C.; Weber, M.A. [Universitaetsklinikum Heidelberg, Klinik fuer Diagnostische und Interventionelle Radiologie, Heidelberg (Germany)

    2017-04-15

    Increasing numbers of conventional X-rays, computed tomography and magnetic resonance imaging in the inpatient, outpatient and scientific routine leads to an increasing number of incidental findings. The correct interpretation of these incidental findings with respect to the relevance and the evaluation concerning further work-up is an important task of radiologists. Description of common incidental findings in musculoskeletal imaging and their clinical classification. A PubMed literature search was performed using the following terms: incidental findings, population-based imaging, musculoskeletal imaging, non-ossifying fibroma, enchondroma, osteodystrophia deformans, chondrosarcoma, fibrous dysplasia, simple bone cyst, unicameral bone cyst, solitary bone cyst, aneurysmal bone cyst, vertebral hemangioma, bone island, osteopoikilosis, Tarlov cyst and diffuse idiopathic skeletal hyperostosis (DISH). Incidental findings are observed in up to 40% of imaging procedures. In up to 6% these incidental findings involve the skeletal system. Common incidental findings are discussed and their clinical relevance is explained. (orig.) [German] Mit steigender Menge an konventionellen Roentgen- sowie CT- und MRT-Bildern im stationaeren, ambulanten und wissenschaftlichen Alltag steigt unweigerlich auch die Zahl der Zufallsbefunde. Die korrekte Einordnung bzgl. deren Relevanz, ob eine weitere Abklaerung notwendig ist oder nicht, stellt eine wichtige Aufgabe des Radiologen dar. Vorstellung haeufiger Zufallsbefunde des muskuloskeletalen Systems und deren klinische Einordnung. Pubmed-Literaturrecherche zu den Stichworten ''incidental findings'', ''population-based imaging'', ''musculoskeletal imaging'', ''non-ossifying fibroma'', ''enchondroma'', ''osteodysthrophia deformans'', ''chondrosarcoma'', ''fibrous dysplasia'', &apos

  11. Renal arterial aneurysm--an incidental finding at autopsy.

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    Vaideeswar P

    1998-01-01

    Full Text Available Herein we describe a rare case of saccular renal artery aneurysm seen as an incidental autopsy finding in an elderly, hypertensive female. The aneurysm was seen as a small exophytic mass with calcified wall and lumen occluded by recanalized thrombus.

  12. Incidental finding of hypertension and diminished femoral pulses ...

    African Journals Online (AJOL)

    2012-06-08

    Jun 8, 2012 ... Case Study: Incidental finding of hypertension and diminished femoral pulses. 168. Vol 55 No 2. S Afr Fam Pract 2013. Introduction. Coarctation of the aorta is ... Surgery of the aorta and its branches. Philadelphia: WB Saunders Company, 2000; p. 3-10. 2. Rao PS. Coarctation of the aorta. Curr Cardiol Rep.

  13. Incidental finding of hypertension and diminished femoral pulses ...

    African Journals Online (AJOL)

    Incidental finding of hypertension and diminished femoral pulses: short-segment stenosis of the aorta just distal to the origin of the left subclavian artery. ... Young patients may present within the first few weeks of life with poor feeding, tachypnea and lethargy. They usually progress to overt congestive heart failure and shock.

  14. Incidental Finding of Isolated Colonic Neurofibroma

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    Haritha Chelimilla

    2013-09-01

    Full Text Available Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1 and neurofibromatosis type 2 (NF2. NF1 is by far the most common presentation and is caused by an autosomal dominant mutation in the NF1 gene mapped to chromosome 17q11.2. The literature shows that gastrointestinal involvement is noted in systemic neurofibromatosis in up to 25% of patients, but isolated intestinal neurofibromatosis is a very rare manifestation. We herein present the case of a 70-year-old woman who was diagnosed with an isolated colonic neurofibroma without any systemic signs of neurofibromatosis; only a few case reports of this condition have been published to date.

  15. Incidental findings in chest X-rays; Zufallsbefunde im Roentgenthorax

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    Wielpuetz, M.O.; Kauczor, H.U. [Universitaetsklinikum Heidelberg, Klinik fuer Diagnostische und Interventionelle Radiologie, Heidelberg (Germany); Universitaet Heidelberg, Translational Lung Research Center (TLRC), Deutsches Zentrum fuer Lungenforschung (DZL), Heidelberg (Germany); Universitaetsklinikum Heidelberg, Klinik fuer Diagnostische und Interventionelle Radiologie mit Nuklearmedizin, Thoraxklinik, Heidelberg (Germany); Weckbach, S. [Universitaetsklinikum Heidelberg, Klinik fuer Diagnostische und Interventionelle Radiologie, Heidelberg (Germany); Universitaet Heidelberg, Translational Lung Research Center (TLRC), Deutsches Zentrum fuer Lungenforschung (DZL), Heidelberg (Germany)

    2017-04-15

    Conventional projection radiography (chest x-ray) is one of the most frequently requested procedures in radiology. Even though chest x-ray imaging is frequently performed in asymptomatic patients for preoperative assessment, clinically relevant incidental findings are relatively scarce. This is due to the relatively low sensitivity of chest x-rays where few clinically relevant incidental findings are to be expected, as any detectable pathologies will as a rule already be clinically symptomatic. Recommendations from relevant societies for the management of incidental findings, apart from the clarification of incidental nodules, do not exist. This review article therefore describes the most frequent and typical incidental findings of lung parenchyma (apart from pulmonary nodules), mediastinal structures including the hilum of the lungs, pleura, chest wall and major vessels. Also described are those findings which can be diagnosed with sufficient certainty from chest x-rays so that further clarification is not necessary and those which must be further clarified by multislice imaging procedures or other techniques. (orig.) [German] Eine der haeufigsten Untersuchungen in der Radiologie ist die konventionelle Projektionsradiographie des Thorax (Roentgenthorax). Auch wenn projektionsradiographische Aufnahmen im Rahmen einer praeoperativen Abklaerung haeufig als orientierende Untersuchung angefertigt werden, sind - bedingt durch die relativ geringe Sensitivitaet des Roentgenthorax - wenig klinisch relevante Zufallsbefunde zu erwarten, da nachweisbare Pathologien in der Regel bereits auch klinisch apparent sind. Empfehlungen entsprechender Fachgesellschaften zu Zufallsbefunden im Roentgenthorax jenseits der Abklaerung von Rundherden liegen nicht vor. Die vorliegende Arbeit beleuchtet daher haeufige und typische Zufallsbefunde des Lungenparenchyms (ausser den Lungenrundherden), der mediastinalen Strukturen einschliesslich der Hili, der Pleura, der Thoraxwand sowie der

  16. Incidental MRI findings of acute gadolinium hypersensitivity.

    Science.gov (United States)

    Amene, C; Yeh-Nayre, L A; Dory, C E; Crawford, J R

    2012-01-01

    A 13-year-old girl with a remote history of juvenile pilocytic astrocytoma developed acute onset flushing, tachycardia and shortness of breath immediately following administration of gadopentetate dimeglumine during routine brain MRI that subsided following intravenous diphenhydramine. A retrospective review of the MRI results revealed multiple areas of contrast enhancement of the face, consistent with observed urticaria. The patient received pretreatment medications prior to subsequent gadolinium injections without incident. Gadolinium allergy is extremely rare and has been reported in less than 0.1% of injections. However, in patients who undergo anesthesia for MRI studies, similar subtle extracranial MRI findings should alert the neuroradiologist to possible gadolinium allergy that may warrant premedication prior to future injections.

  17. Localized attachment loss in Pendred syndrome: incidental?

    Science.gov (United States)

    Sharma, C G Dileep; Pradeep, A R

    2007-05-01

    Pendred syndrome is a rare, inherited, autosomal recessive disorder with an iodine organification defect of thyroxin produced by the thyroid gland. Its clinical features include sensorineural hearing loss, classically congenital and prelingual, and goiter. This is the first case report of Pendred syndrome in the dental literature with oral findings that include localized extensive attachment loss involving mandibular incisor teeth and idiopathic hypercementosis involving multiple teeth in addition to other oral manifestations, suggesting hypothyroidism-like macroglossia and macrocheilia. Furthermore, serum alkaline phosphatase along with inorganic calcium and phosphate levels were also elevated. Peripheral neutrophil function test suggested a defective function of neutrophils. Management of the case included augmenting thyroxin supplementation, in consultation with an endocrinologist, and extraction of hopeless mandibular central incisors followed by placement of immediate transitional dentures. A comprehensive medical history and systemic and laboratory evaluations should be considered a prerequisite to identify, manage, and report such rare conditions in routine clinical practice.

  18. Incidental MRI Findings in Patients with Impaired Cognitive Function

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    Hwang, Yoon Joon [Dept. of Radiology, College of Medicine, Inje University, Ilsan Paik Hospital, Goyang (Korea, Republic of)

    2013-01-15

    This study aims to evaluate the incidental findings on brain MRI of patients with cognitive function impairments. We analyzed magnetic resonance (MR) findings of 236 patients with decreased cognitive function. MR protocols include conventional T2 weighted axial images, fluid attenuated inversion recovery axial images, T1 weighted coronal 3-dimensional magnetization-prepared rapid acquisition of gradient echo and diffusion tensor images. We retrospectively evaluated the signal changes that suggest acute/subacute infarction and space occupying lesions which show mass effect. Incidental MR findings were seen in 16 patients. Nine patients (3.8%) showed increased signal intensity on trace map of diffusion tensor images suggesting acute/subacute infarctions. Space occupying lesions were detected in 7 patients, and 3 lesions (1.27%) had mass effect and edema and were considered clinically significant lesions that diminish cognitive functions. Several incidental MR findings were detected in patients with decreased cognitive function, and the incidence of aucte/subacute infarctions were higher. Proper evaluations of MRI in patients with impaired cognitive functions will be helpful in early detection and management of ischemic lesions and space occupying lesions.

  19. Incidental findings, genetic screening and the challenge of personalisation

    Directory of Open Access Journals (Sweden)

    Carlo Petrini

    2014-12-01

    Full Text Available Genetic tests frequently produce more information than is initially expected. Several documents have addressed this issue and offer suggestions regarding how this information should be managed and, in particular, concerning the expedience of revealing (or not revealing it to the persons concerned. While the approaches to the management of these incidental findings (IFs vary, it is usually recommended that the information be disclosed if there is confirmed clinical utility and the possibility of treatment or prevention. However, this leaves unsolved some fundamental issues such as the different ways of interpreting "clinical utility", countless sources of uncertainty and varying ways of defining the notion of "incidental". Guidelines and other reference documents can offer indications to those responsible for managing IFs but should not be allowed to relieve researchers and healthcare professionals of their responsibilities.

  20. PICTORIAL INTERLUDE Gorlin syndrome – an incidental ...

    African Journals Online (AJOL)

    Introduction. Gorlin-Goltz syndrome (also known as nevoid basal cell carcinoma syndrome) was first reported in 1894, but described by Gorlin and Goltz in 1960 as a distinct entity consisting of ectodermal and mesodermal abnormalities.1 It is an hereditary autosomal dominant disease with a prevalence estimated in various ...

  1. CASE REPORT: Papillary Adenoma of Kidney- An Incidental Autopsy Finding: Report of Two Cases

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    Bhakti D. Deshmukh

    2012-01-01

    Full Text Available Background: Renal papillary adenoma is usually an incidental finding at autopsy with an incidence of 7% to 23%. The frequency of small papillary tumours of kidney increases with age to approximately 40% of the population over the age of 65. These tumours occur morefrequently in scarred kidneys, acquired renal cystic disease and in children with von Hippel-Lindau syndrome. Case history: In this report we describe renal papillary adenoma incidentally detected during autopsies of two elderly males. Gross examination of kidneyshowed two tiny subcapsular yellowish nodules in one case and single nodule with similar morphology in the other. Microscopic examination in both the cases showed a well circumscribed tumour composed of densely packed tubules and papillae lined by small cuboidal to columnar cells with rounded uniform nuclei. However there was no nuclear atypia, mitosis or necrosis.

  2. Managing incidental findings in human subjects research: analysis and recommendations.

    Science.gov (United States)

    Wolf, Susan M; Lawrenz, Frances P; Nelson, Charles A; Kahn, Jeffrey P; Cho, Mildred K; Clayton, Ellen Wright; Fletcher, Joel G; Georgieff, Michael K; Hammerschmidt, Dale; Hudson, Kathy; Illes, Judy; Kapur, Vivek; Keane, Moira A; Koenig, Barbara A; Leroy, Bonnie S; McFarland, Elizabeth G; Paradise, Jordan; Parker, Lisa S; Terry, Sharon F; Van Ness, Brian; Wilfond, Benjamin S

    2008-01-01

    No consensus yet exists on how to handle incidental findings (IFs) in human subjects research. Yet empirical studies document IFs in a wide range of research studies, where IFs are findings beyond the aims of the study that are of potential health or reproductive importance to the individual research participant. This paper reports recommendations of a two-year project group funded by NIH to study how to manage IFs in genetic and genomic research, as well as imaging research. We conclude that researchers have an obligation to address the possibility of discovering IFs in their protocol and communications with the IRB, and in their consent forms and communications with research participants. Researchers should establish a pathway for handling IFs and communicate that to the IRB and research participants. We recommend a pathway and categorize IFs into those that must be disclosed to research participants, those that may be disclosed, and those that should not be disclosed.

  3. Clinical management of incidental findings on pelvic adnexal masses

    Directory of Open Access Journals (Sweden)

    Daniel Spadoto Dias

    2015-10-01

    Full Text Available Summary Due to widespread use of pelvic and transvaginal ultrasound in routine gynecological evaluation, the incidental finding of adnexal masses has led to discussions about management in asymptomatic patients regarding the risk of ovarian cancer. Transvaginal ultrasonography remains the modality of choice in the evaluation of suspicious characteristics. The combined analysis of ultrasound morphological parameters with Doppler study, serum carcinona antigen 125 and investigation of a symptom index may improve diagnosis. Surgical approach should be considered whenever there are suspicious images, rapid growth of cysts, changes in the appearance compared to the initial evaluation or when the patient has symptoms. Future studies on genetic and molecular mechanisms may help explain the pathophysiology of ovarian cancer, improving early diagnosis and treatment.

  4. Incidental cardiac findings on computed tomography imaging of the thorax

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    El-Gendi Hossam

    2010-12-01

    Full Text Available Abstract Background Investigation of pulmonary pathology with computed tomography also allows visualisation of the heart and major vessels. We sought to explore whether clinically relevant cardiac pathology could be identified on computed tomography pulmonary angiograms (CTPA requested for the exclusion of pulmonary embolism (PE. 100 consecutive CT contrast-enhanced pulmonary angiograms carried out for exclusion of PE at a single centre were assessed retrospectively by two cardiologists. Findings Evidence of PE was reported in 5% of scans. Incidental cardiac findings included: aortic wall calcification (54%, coronary calcification (46%, cardiomegaly (41%, atrial dilatation (18%, mitral annulus calcification (15%, right ventricular dilatation (11%, aortic dilatation (8% and right ventricular thrombus (1%. Apart from 3 (3% reports describing cardiomegaly, no other cardiac findings were described in radiologists' reports. Other reported pulmonary abnormalities included: lung nodules (14%, lobar collapse/consolidation (8%, pleural effusion (2%, lobar collapse/consolidation (8%, emphysema (6% and pleural calcification (4%. Conclusions CTPAs requested for the exclusion of PE have a high yield of cardiac abnormalities. Although these abnormalities may not have implications for acute clinical management, they may, nevertheless, be important in long-term care.

  5. MR imaging of the pelvis: a guide to incidental musculoskeletal findings for abdominal radiologists.

    Science.gov (United States)

    Gaetke-Udager, Kara; Girish, Gandikota; Kaza, Ravi K; Jacobson, Jon; Fessell, David; Morag, Yoav; Jamadar, David

    2014-08-01

    Occasionally patients who undergo magnetic resonance imaging for presumed pelvic disease demonstrate unexpected musculoskeletal imaging findings in the imaged field. Such incidental findings can be challenging to the abdominal radiologist, who may not be familiar with their appearance or know the appropriate diagnostic considerations. Findings can include both normal and abnormal bone marrow, osseous abnormalities such as Paget's disease, avascular necrosis, osteomyelitis, stress and insufficiency fractures, and athletic pubalgia, benign neoplasms such as enchondroma and bone island, malignant processes such as metastasis and chondrosarcoma, soft tissue processes such as abscess, nerve-related tumors, and chordoma, joint- and bursal-related processes such as sacroiliitis, iliopsoas bursitis, greater trochanteric pain syndrome, and labral tears, and iatrogenic processes such as bone graft or bone biopsy. Though not all-encompassing, this essay will help abdominal radiologists to identify and describe this variety of pelvic musculoskeletal conditions, understand key radiologic findings, and synthesize a differential diagnosis when appropriate.

  6. Mobious syndrome: MR findings

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    Maskal Revanna Srinivas

    2016-01-01

    Full Text Available Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed.

  7. Incidental findings detected on abdomino-pelvic multidetector computed tomography performed in the acute setting.

    Science.gov (United States)

    Shuaib, Waqas; Waqas, Shuaib; Johnson, Jamlik-Omari; Salastekar, Ninad; Maddu, Kiran K; Khosa, Faisal

    2014-01-01

    The objective of the study is to determine the prevalence and significance of incidental findings in patients with a chief complaint of abdominal pain presenting to the emergency department (ED) who received abdomino-pelvic multidetector computed tomography. We conducted a retrospective review of data collected for 290 patients over a period of 5 months (April to September 2012) from 3 different university-affiliated EDs. Two board-certified radiologists reviewed the original images independently and recorded the incidental findings. These findings were classified as benign, indeterminate, and worrisome. Only those findings present in the original report were included in the study. If an indeterminate or worrisome incidental finding was identified, the patient's medical records were reviewed to determine if the incidental finding was previously known, whether recommendation was made for further evaluation, and whether this recommendation led to any change in management. We identified 283 incidental findings—144 benign (51%), 114 indeterminate (40%), and 25 worrisome (9%) findings. A statistically significant difference was observed in the percentage of patients who experienced a change in management among those who received recommendations as compared with those who did not, in both previously known (87% vs 22%, P=.001) and previously unknown (70% vs 2%, P=.001) indeterminate findings. Unlike benign incidental findings, indeterminate and worrisome findings frequently alter the course of management. Recommendation from radiologists appears to significantly contribute to the management of indeterminate incidental findings.

  8. Management of intracranial incidental findings on brain MRI; Management intrakranieller Zufallsbefunde in der MRT-Bildgebung

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    Langner, S.; Buelow, R.; Kirsch, M. [University Medicine Greifswald (Germany). Inst. for Diagnostic Radiology and Neuroradiology; Fleck, S. [University Medicine Greifswald (Germany). Dept. of Neurosurgery; Angermaier, A. [University Medicine Greifswald (Germany). Dept. of Neurology

    2016-12-15

    The wider use of MRI for imaging of the head in both research and clinical practice has led to an increasing number of intracranial incidental findings. Most of these findings have no immediate medical consequences. Nevertheless, knowledge of common intracranial incidental findings and their clinical relevance is necessary to adequately discuss the findings with the patient. Based on the author's experiences from a large population-based study, the most common incidental MR findings in the brain will be presented, discussing their clinical relevance and giving recommendations for management according to the current literature and guidelines.

  9. Incidental finding of a left over guide wire on a positron emission tomography

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    Yap, Kok Hooi; Lee, Phong Teck; Buch, Mamta; Rammohan, Kandadai Seshadri

    2012-12-15

    The Seldinger technique is commonly used cannulate vessels for radiographical procedures. Loss of a guide wire into the circulation is a rare and preventable complication. It is often noticed by chance during routine radiographs. However, there is a lack of reported cases of incidental fin dings of leftover guide wire on a PET scan. An intravascular foreign body should be retrieved as soon as the diagnosis is made, to prevent complications such as embolisation or vascular damage by fractured wires. Interventional radiology is the method of choice for retrieval. We report a rare case of the coincidental finding of a lost guide wire on a PET scan. A 37 year old man presented with psychotic episodes, thigh weakness, weight gain, increased appetite and leg cramps. He was subsequently diagnosed with cushing syndrome secondary to ectopic adrenocorticotropic secretion from a right lung tumour. He subsequently underwent a staging positron emission tomography (PET) scan. The lung tumour had no uptake on PET bit had increased activity uptake on octreotide scanning. These appearances were suggestive of with carcinoid tumour. The PET scan also revealed an incidental finding of a leftover guide wire used during peripheral inserted central catheter (PICC) recently. The wire extended from right atrium to inferior vena cava. It also showed a high uptake in the adrenal glands, indicating hyperplasia, which was most likely due to adrenocorticotropic hormone stimulation. He underwent a percutaneous wire retrieval via the right femoral vein in a cardiac catheterisation laboratory and was transferred to a thoracic surgical unit for lung tumor resection.

  10. Incidental finding of a left over guide wire on a positron emission tomography

    International Nuclear Information System (INIS)

    Yap, Kok Hooi; Lee, Phong Teck; Buch, Mamta; Rammohan, Kandadai Seshadri

    2012-01-01

    The Seldinger technique is commonly used cannulate vessels for radiographical procedures. Loss of a guide wire into the circulation is a rare and preventable complication. It is often noticed by chance during routine radiographs. However, there is a lack of reported cases of incidental fin dings of leftover guide wire on a PET scan. An intravascular foreign body should be retrieved as soon as the diagnosis is made, to prevent complications such as embolisation or vascular damage by fractured wires. Interventional radiology is the method of choice for retrieval. We report a rare case of the coincidental finding of a lost guide wire on a PET scan. A 37 year old man presented with psychotic episodes, thigh weakness, weight gain, increased appetite and leg cramps. He was subsequently diagnosed with cushing syndrome secondary to ectopic adrenocorticotropic secretion from a right lung tumour. He subsequently underwent a staging positron emission tomography (PET) scan. The lung tumour had no uptake on PET bit had increased activity uptake on octreotide scanning. These appearances were suggestive of with carcinoid tumour. The PET scan also revealed an incidental finding of a leftover guide wire used during peripheral inserted central catheter (PICC) recently. The wire extended from right atrium to inferior vena cava. It also showed a high uptake in the adrenal glands, indicating hyperplasia, which was most likely due to adrenocorticotropic hormone stimulation. He underwent a percutaneous wire retrieval via the right femoral vein in a cardiac catheterisation laboratory and was transferred to a thoracic surgical unit for lung tumor resection

  11. Bouveret's syndrome: CT findings

    International Nuclear Information System (INIS)

    Tueney, D.; Cimsit, C.

    2000-01-01

    Intestinal obstruction secondary to gallstones is seen in the older population and the level of obstruction is usually at the level of the terminal ileum. Obstruction at the level of the gastric outlet is called Bouveret's syndrome. A case with perforated cholecystitis and duodenal obstruction due to a gallstone is presented. The CT findings are presented along with the clinical findings and literature review. (orig.)

  12. Accessory hepatic lobe in right lumbar region - an incidental finding.

    Science.gov (United States)

    Shrestha, M K; Ghartimagar, D; Ghosh, A

    2014-01-01

    An accessory lobe of liver is a rare congenital anomaly which can be detected incidentally or can even present as acute surgical emergency due to torsion. We report a case of accessory hepatic lobe in right lumbar region in a 21years old female who came for a ultrasound abdomen for lower abdominal pain. We report the importance of ultrasonography and Computed Tomogram (CT) scan for the diagnosis of accessory hepatic lobe.

  13. Incidental findings at MRI-enterography in patients with suspected or known Crohn's disease

    DEFF Research Database (Denmark)

    Jensen, Michael Dam; Nathan, Torben; Kjeldsen, Jens

    2010-01-01

    AIM: To determine the frequency and clinical impact of incidental findings detected with magnetic resonance imaging (MRI)-enterography in patients with suspected or known Crohn's disease (CD). METHODS: Incidental findings were defined as unexpected lesions outside the small intestine, not previou......AIM: To determine the frequency and clinical impact of incidental findings detected with magnetic resonance imaging (MRI)-enterography in patients with suspected or known Crohn's disease (CD). METHODS: Incidental findings were defined as unexpected lesions outside the small intestine......, not previously known or suspected at the time of referral, and not related to inflammatory bowel disease. Through a systematic review of medical charts we analyzed the clinical impact of incidental findings, and compared the MRI findings with subsequent diagnostic procedures. RESULTS: A total of 283 patients...... were included in the analysis, and MRI detected active CD in 31%, fistula in 1.4% and abscess in 0.7%. Extra-intestinal findings not related to CD were recorded in 72 patients (25%), of which 58 patients (20%) had 74 previously unknown lesions. Important or incompletely characterized findings were...

  14. Incidental findings on computed tomography scans in children with mild head trauma.

    Science.gov (United States)

    Ortega, Henry W; Vander Velden, Heidi; Reid, Samuel

    2012-09-01

    Computed tomography (CT) scans are frequently used in managing traumatic brain injuries in children. To assess incidental findings in children with head trauma undergoing CT scan and to describe any associated clinical ramifications. Retrospective review of 524 children treated in 2 emergency departments for closed head injury who received a CT scan. Overall, 137 (26.2%) patients had an incidental finding on CT scan. The most common incidental finding was sinus opacification with an air fluid level (115/137, 83.9%). Thirty-five interventions were reported in children with incidental findings. Children 2 years old or younger were more likely to receive a prescription for antibiotics (relative risk [RR] = 2.66, 95% confidence interval [CI] = 1.08-6.51) and be referred to a specialist (RR = 10.26, 95% CI = 3.56-29.56) than older children. Incidental findings in minor head trauma are common. Clinicians should be prepared to address these findings if clinically indicated.

  15. Clinically relevant incidental cardiovascular findings in CT examinations; Klinisch relevante kardiovaskulaere Zufallsbefunde bei CT-Untersuchungen

    Energy Technology Data Exchange (ETDEWEB)

    Voigt, P.; Fahnert, J.; Kahn, T.; Surov, A. [Universitaetsklinikum Leipzig, Klinik fuer Diagnostische und Interventionelle Radiologie, Leipzig (Germany); Schramm, D.; Bach, A.G. [Universitaetsklinikum Halle (Saale), Klinik fuer Radiologie, Halle (Germany)

    2017-04-15

    Incidental cardiovascular findings are a frequent phenomenon in computed tomography (CT) examinations. As the result of a dedicated PubMed search this article gives a systemic overview of the current literature on the most important incidental cardiovascular findings, their prevalence and clinical relevance. The majority of incidental cardiovascular findings are of only low clinical relevance; however, highly relevant incidental findings, such as aortic aneurysms, thromboses and thromboembolic events can also occasionally be found, especially in oncology patients. The scans from every CT examination should also be investigated for incidental findings as they can be of decisive importance for the further clinical management of patients, depending on their clinical relevance. (orig.) [German] Inzidentelle kardiovaskulaere Befunde sind ein haeufiges Phaenomen bei CT-Untersuchungen. Mit dieser Arbeit soll nach gezielter PubMed-Recherche ein systematischer Literaturueberblick ueber die wichtigsten kardiovaskulaeren Zufallsbefunde sowie deren Haeufigkeit und klinische Relevanz gegeben werden. Die Mehrzahl der inzidentellen kardiovaskulaeren Befunde sind klinisch nur von untergeordneter Bedeutung, allerdings werden immer wieder auch hochgradig relevante Zufallsbefunde wie beispielsweise Aortenaneurysmata oder - gerade bei onkologischen Patienten - Thrombosen und thrombembolische Ereignisse detektiert. Jede CT-Untersuchung sollte gezielt nach inzidentellen Befunden durchsucht werden, da diese je nach klinischer Relevanz von entscheidender Bedeutung fuer das weitere klinische Management des Patienten sein koennen. (orig.)

  16. Clinical magnetic resonance imaging. Frequent incidental cerebral findings; Klinische Magnetresonanztomographie. Haeufige zerebrale Zufallsbefunde

    Energy Technology Data Exchange (ETDEWEB)

    Mueller, A.; Ditter, P.; Schild, H.H.; Hattingen, E. [Universitaetsklinikum Bonn, Funktionseinheit Neuroradiologie der Klinik fuer Radiologie, Bonn (Germany); Weidauer, S. [St.-Katharinen-Krankenhaus, Neurologische Klinik, Frankfurt/M (Germany)

    2017-04-15

    The increasing use of magnetic resonance imaging (MRI) in clinical diagnostics means that patients and physicians are confronted more often with incidental findings. In the literature there are fluctuating data on the incidence of such findings and guidelines concerning the further procedure exist in only very few cases, such as incidental aneurysms and pituitary adenomas. The diagnostic and therapeutic implications which can be derived from incidental findings depend on multiple factors, such as anatomical location, patient age, comorbidity and patient wishes. For this reason it often makes sense to refer patients with incidental findings to an interdisciplinary neurological center at an early stage. In this review frequent incidental cerebral findings, epidemiological data, imaging criteria and, where possible, recommendations for the further procedure are shown. (orig.) [German] Durch den gehaeuften Einsatz der MRT in der zerebralen Diagnostik werden Arzt und Patienten in zunehmendem Masse mit Zufallsbefunden, auch Nebenbefunde genannt, konfrontiert. In der Literatur existieren sehr schwankende Angaben zur Haeufigkeit solcher Zufallsbefunde. Nur fuer einzelne dieser Befunde, wie z. B. das inzidentelle Aneurysma oder das Hypophysenadenom, existieren Leitlinien fuer das weitere Prozedere. Die aus einem Zufallsbefund abzuleitenden diagnostischen und therapeutischen Konsequenzen sind von vielen Faktoren, wie z. B. der anatomischen Lage, dem Patientenalter, den Komorbiditaeten und dem Patientenwunsch abhaengig. Daher ist es oft sinnvoll, den Patienten mit einem Zufallsbefund fruehzeitig in einem interdisziplinaeren Neurozentrum vorzustellen. In der vorliegenden Arbeit werden haeufige zerebrale Zufallsbefunde mit epidemiologischen Daten, bildgebenden Kriterien und - wenn moeglich - Empfehlungen bzgl. des weiteren Vorgehens gezeigt. (orig.)

  17. Whole-body MRI in neurofibromatosis: incidental findings and prevalence of scoliosis

    Energy Technology Data Exchange (ETDEWEB)

    Jaremko, Jacob L.; MacMahon, Peter J.; Torriani, Martin; Bredella, Miriam A. [Massachusetts General Hospital and Harvard Medical School, Musculoskeletal Imaging and Intervention, Department of Radiology, Boston, MA (United States); Merker, Vanessa L.; Plotkin, Scott R. [Massachusetts General Hospital, Department of Neurology and Cancer Center, Boston, MA (United States); Mautner, Victor F. [University Medical Center Hamburg-Eppendorf, Department of Neurology, Hamburg (Germany)

    2012-08-15

    To demonstrate incidental findings and scoliosis on whole-body MRI (WBMRI) in patients with neurofibromatosis type 1 and 2 (NF1 and NF2, respectively), and schwannomatosis. Institutional review board approval and written informed consent were obtained for this prospective HIPAA-compliant study. A total of 247 subjects (141 with NF1, 55 with NF2, 51 with schwannomatosis; 132 women (53.5%); mean age, 41 years, range, 18-97 years) underwent WBMRI using coronal STIR (TR/TE: 4190/111 ms, TI: 150 ms) and T1-weighted images (TR/TE: 454/10 ms), 10-mm slice thickness, imaging time {proportional_to}40 min. Images were reviewed for the presence of incidental findings, outside of nerve sheath tumors. The presence of scoliosis was recorded and curve morphology was assessed and quantified. Incidental findings other than scoliosis were recorded in 104/247 (42%) patients, most often affecting the musculoskeletal system (65/247 patients, 26%). We found 16/247 (6.5%) significant incidental findings likely to affect clinical management, including avascular necrosis of bone in eight patients (five with NF2), eight insufficiency fractures, and four non-neurogenic neoplasms (Hodgkin's lymphoma, liposarcoma, dermoid cyst, large uterine myoma requiring excision). Scoliosis was seen in 50/247 patients (20%), including 8/55 with NF2 (15%) and 11/51 with schwannomatosis (22%). Incidental findings in the neurofibromatoses frequently involve the skeleton. Given the relatively high incidence of unsuspected osteonecrosis and stress fractures, close attention to the skeleton on WBMRI is advised. In addition, knowledge of common incidental findings can help clinicians prepare patients who undergo WBMRI for potential unexpected findings. (orig.)

  18. Ethical and Practical Considerations in the Management of Incidental Findings in Pediatric MRI Studies

    Science.gov (United States)

    Kumra, Sanjiv; Ashtari, Manzar; Anderson, Britt; Cervellione, Kelly L.; Kan, Li

    2006-01-01

    Objective: The authors examined the ethical and practical management issues resulting from the detection of incidental abnormal findings on magnetic resonance imaging (MRI) research studies in healthy pediatric volunteers. Method: A retrospective examination of the findings from 60 clinical reports of research MRI scans from a cohort of healthy…

  19. Incidental findings on cone beam computed tomography scans in cleft lip and palate patients

    NARCIS (Netherlands)

    Kuijpers, Mette A. R.; Pazera, Andrzej; Admiraal, Ronald J.; Berge, Stefaan J.; Vissink, Arjan; Pazera, Pawel

    Cone beam computed tomography (CBCT) is frequently used in treatment planning for alveolar bone grafting (ABG) and orthognathic surgery in patients with cleft lip and palate (CLP). CBCT images may depict coincident findings. The aim of this study was to assess the prevalence of incidental findings

  20. Renal lymphangiectasia: incidental finding at multislice computed tomography and literature review

    Energy Technology Data Exchange (ETDEWEB)

    Vasconcelos, Rodrigo Abdalla de; Pereira, Emanuelle Santiago [Hospital de Base do Distrito Federal (HBDF), Brasilia, DF (Brazil); Bauab Junior, Tufik [Instituto de Radiodiagnostico Rio Preto - Ultra-X and Hospital de Base de Faculdade de Medicina de Sao Jose do Rio Preto (Famerp), Sao Jose do Rio Preto, SP (Brazil); Valente, Rodolfo Silva [Hospital Universitario de Brasilia (HUB), Brasilia, DF (Brazil)

    2012-05-15

    Renal lymphangiectasia is a rare condition characterized by parapyelic and perirenal fluid collections, which may progress from asymptomatic condition to chronic renal failure. The present report describes a case of incidental computed tomography finding of bilateral lymphangiectasia in an asymptomatic patient, as well as the main imaging findings with a comprehensive literature review. (author)

  1. CASE REPORT CASE CASE R Incidental MDCT finding of a ...

    African Journals Online (AJOL)

    2009-08-17

    Aug 17, 2009 ... artery via the PDA. Studies timed for the aorta will show a 'positive jet' of enhanced blood flowing from the aorta to the unenhanced pulmonary artery via the PDA.11. In patients with PDAs complicated by Eisenmenger's syndrome, MDCT is more sensitive than transthoracic cardiac echo in detecting a PDA; ...

  2. System-Level Process Change Improves Communication and Follow-Up for Emergency Department Patients With Incidental Radiology Findings.

    Science.gov (United States)

    Baccei, Steven J; Chinai, Sneha A; Reznek, Martin; Henderson, Scott; Reynolds, Kevin; Brush, D Eric

    2018-01-03

    The appropriate communication and management of incidental findings on emergency department (ED) radiology studies is an important component of patient safety. Guidelines have been issued by the ACR and other medical associations that best define incidental findings across various modalities and imaging studies. However, there are few examples of health care facilities designing ways to manage incidental findings. Our institution aimed to improve communication and follow-up of incidental radiology findings in ED patients through the collaborative development and implementation of system-level process changes including a standardized loop-closure method. We assembled a multidisciplinary team to address the nature of these incidental findings and designed new workflows and operational pathways for both radiology and ED staff to properly communicate incidental findings. Our results are based on all incidental findings received and acknowledged between November 1, 2016, and May 30, 2017. The total number of incidental findings discovered was 1,409. Our systematic compliance fluctuated between 45% and 95% initially after implementation. However, after overcoming various challenges through optimization, our system reached a compliance rate of 93% to 95%. Through the implementation of our new, standardized communication system, a high degree of compliance with loop closure for ED incidental radiology findings was achieved at our institution. Copyright © 2017 American College of Radiology. Published by Elsevier Inc. All rights reserved.

  3. Incidental benign parotid lesions on FDG-PET: prevalence and clinico-pathologic findings

    International Nuclear Information System (INIS)

    Lim, Il Han; Lee, Won Woo; Chung, Jin Haeng; Park, So Yeon; Kim, Yu Kyeong; Kim, Sang Eun

    2007-01-01

    Incidental parotid lesions on F-18 FDG-PET can mimic distant metastasis of underlying malignancy. The prevalence and the clinico-pathologic findings of PET positive parotid lesions have not been known. We investigated how often incidental parotid lesions are found on clinical FDG-PET studies and what the clinico-pathologic characteristics of those parotid lesions are in the present study. We retrospectively reviewed 3, 344 cases of FDG-PET which had been obtained in our hospital from May 2003 to Dec 2006. The indications of FDG-PET were: evaluation of known/suspected cancer (n=3, 212) or screening of cancer in healthy subjects (n=132). Incidental parotid lesion on FDG-PET was defined as an un-expected FDG uptake in one of parotid glands which was not primary target lesion of current FDG-PET. FDG uptake was represented by maximum standardized uptake value (maxSUV). Final diagnosis was made by pathologic analysis or clinical follow-up assessment. Fifteen (0.45% = 15/3, 344) incidental parotid lesions were found and they were all benign lesions. The maxSUV ranged from 1.7 to 8.6 (means.d.=3.71.9). Final diagnoses of the incidental parotid lesions were; Warthin's tumor (n=2), pleomorphic adenoma (n=1), other un-specified benign lesion (n=1), and benign lesions under bases of imaging studies (n=3) and of clinical follow-up (n=8). All of incidentally found parotid lesions in clinical FDG-PET studies were confirmed as benign lesions with prevalence of 0.45%. Close follow up using PET or CT might be a reasonable approach for determining the nature of incidentally found parotid lesions

  4. Radiographic findings of Proteus Syndrome

    Directory of Open Access Journals (Sweden)

    Nishant Mukesh Gandhi, MD

    2014-01-01

    Full Text Available The extremely rare Proteus Syndrome is a hamartomatous congenital syndrome with substantial variability between clinical patient presentations. The diagnostic criteria consist of a multitude of clinical findings including hemihypertrophy, macrodactyly, epidermal nevi, subcutaneous hamartomatous tumors, and bony abnormalities. These clinical findings correlate with striking radiographic findings.

  5. Radiographic findings of Proteus Syndrome

    Science.gov (United States)

    Gandhi, Nishant Mukesh; Davalos, Eric A.; Varma, Rajeev K.

    2015-01-01

    The extremely rare Proteus Syndrome is a hamartomatous congenital syndrome with substantial variability between clinical patient presentations. The diagnostic criteria consist of a multitude of clinical findings including hemihypertrophy, macrodactyly, epidermal nevi, subcutaneous hamartomatous tumors, and bony abnormalities. These clinical findings correlate with striking radiographic findings. PMID:27186241

  6. Incidental finding of dextrocardia with situs inversus totalis in a day ...

    African Journals Online (AJOL)

    Dextrocardia with situs inversus are rare congenital anomalies which can be asymptomatic and compatible with normal life. They are characterized by mirror images of all intra-thoracic and intra-abdominal viscera. Our aim is to report an incidental finding of dextrocardia with situs inversus in a neonate with neonatal sepsis.

  7. Prevalence of incidental findings in paranasal sinus in brain and orbital CT scans in pediatric patients

    Directory of Open Access Journals (Sweden)

    Adriano Ferreira da Silva

    2011-09-01

    Full Text Available In emergency services a significant amount of pediatric patients undergoa brain or orbit CT scans for suspicion other than sinusitis. Assuming thispremise, this study was held to show the incidental findings of the paranasalsinuses of children with nonspecific symptoms such as fever, headache andvomiting that underwent brain or orbits CT scans, without the initial suspicion of sinusitis. In a retrospective study, we evaluated 70 CT scans of the brainand orbits of children between 0 and 12 years. The incidental findings of theparanasal sinuses occurred in 32 cases (45.7%. Mucosal thickening was themost common incidental finding, being observed in 35% of patients, followed bycomplete opacification observed in 28% of cases and incomplete opacificationobserved in 28% of patients. Bilateral involvement occurred in 78% patients.The sinuses most frequently affected were the maxillary sinus followed byethmoid sinuses. The abnormalities were more severe in children under theage of three years. The prevalence of incidental tomographic abnormalities inpatients without an initial diagnosis of sinusitis is high. The predominance ofthese findings are mild abnormalities.

  8. 78 FR 33843 - Request for Comments on Issues Related to Incidental Findings That Arise in the Clinical...

    Science.gov (United States)

    2013-06-05

    ... requesting public comment on the ethical, legal, and social issues raised by incidental findings that arise... specific bioethical, legal, and social issues related to potential scientific and technological advances... have to actively look for certain incidental findings; Best practices, methods, and mechanisms for...

  9. Pseudoxanthoma elasticum and nephrocalcinosis: Incidental finding or an infrequent manifestation?

    Directory of Open Access Journals (Sweden)

    Tirthankar Gayen

    2014-01-01

    Full Text Available Pseudoxanthoma elasticum (PXE is an inherited disorder characterized by generalized fragmentation and progressive calcification of elastic tissue. We report two sporadic cases of PXE, both of whom presented with asymptomatic yellowish papules over the flexural sites for cosmetic reasons. Histopathological findings on hematoxylin and eosin and Verhoeff-Van Gieson (VVG staining were classical of PXE. In addition to this, renal calcification was documented on plain radiography of kidneys, ureters, and bladder (KUB in both the cases. Paucity of literature describing the association of nephrocalcinosis with PXE prompted the present report.

  10. Prevalence of incidental findings on magnetic resonance imaging: Cuban project to map the human brain

    International Nuclear Information System (INIS)

    Hernandez Gonzalez, Gertrudis de los Angeles; Alvarez Sanchez, Marilet; Jordan Gonzalez, Jose

    2010-01-01

    To determine the prevalence of incidental findings in healthy subjects of the Cuban Human Brain Mapping Project sample, it was performed a retrospective descriptive study of the magnetic resonance imaging (MRI) obtained from 394 healthy subjects that make up the sample of the project, between 2006-2007, with an age range of 18 to 68 years (mean 33,12), of which 269 (68,27 %) are male and 125 (31,73 %) are women. It was shown that 40,36 % had one or more anomaly in the magnetic resonance imaging (MRI). In total, the number of incidental findings was 188, 23,6 % of which were brain findings and 24,11 % were non-brain findings, among the latter, were the sinusopathy with 20,81 % and maxillary polyps with 3,30 %. The most prevalent brain findings were: intrasellar arachnoidocele, 11,93 %, followed by the prominence of the pituitary gland, 5,84 %, ventricular asymmetry, 1,77 % and bone defects, 1,02 %. Other brain abnormalities found with very low prevalence had no pathological significance, except for two cases with brain tumor, which were immediately sent to a specialist. Incidental findings in MRI are common in the general population (40,36 %), being the sinusopathy, and intrasellar arachnoidocele the most common findings. Asymptomatic individuals who have any type of structural abnormality provide invaluable information on the prevalence of these abnormalities in a presumably healthy population, which may be used as references for epidemiological studies

  11. Healed perivalvular abscess: Incidental finding on transthoracic echocardiography

    Directory of Open Access Journals (Sweden)

    Vishnu Datt

    2014-01-01

    Full Text Available A 36-year-old male patient presented with the complaints of palpitations and breathlessness. Preoperative transthoracic echocardiography (TTE revealed a bicuspid aortic valve; severe aortic regurgitation with dilated left ventricle (LV and mild LV systolic dysfunction (ejection fraction 50%. He was scheduled to undergo aortic valve replacement. History was not suggestive of infective endocarditis (IE. Preoperative TTE did not demonstrate any aortic perivalvular abscess. Intraoperative transesophageal echocardiography (TEE examination using the mid-esophageal (ME long-axis view, showed an abscess cavity affecting the aortic valve, which initially was assumed to be a dissection flap, but later confirmed to be an abscess cavity by color Doppler examination. The ME aortic valve short-axis view showed two abscesses; one was at the junction of the non-coronary and left coronary commissure and the other one above the right coronary cusp. Intraoperatively, these findings were confirmed by the surgeons. The case report demonstrates the superiority of TEE over TTE in diagnosing perivalvular abscesses.

  12. Freedom of Choice About Incidental Findings Can Frustrate Participants' True Preferences.

    Science.gov (United States)

    Viberg, Jennifer; Segerdahl, Pär; Langenskiöld, Sophie; Hansson, Mats G

    2016-03-01

    Ethicists, regulators and researchers have struggled with the question of whether incidental findings in genomics studies should be disclosed to participants. In the ethical debate, a general consensus is that disclosed information should benefit participants. However, there is no agreement that genetic information will benefit participants, rather it may cause problems such as anxiety. One could get past this disagreement about disclosure of incidental findings by letting participants express their preferences in the consent form. We argue that this freedom of choice is problematic. In transferring the decision to participants, it is assumed that participants will understand what they decide about and that they will express what they truly want. However, psychological findings about people's reaction to probabilities and risk have been shown to involve both cognitive and emotional challenges. People change their attitude to risk depending on what is at stake. Their mood affects judgments and choices, and they over- and underestimate probabilities depending on whether they are low or high. Moreover, different framing of the options can steer people to a specific choice. Although it seems attractive to let participants express their preferences to incidental findings in the consent form, it is uncertain if this choice enables people to express what they truly prefer. In order to better understand the participants' preferences, we argue that future empirical work needs to confront the participant with the complexity of the uncertainty and the trade-offs that are connected with the uncertain predictive value of genetic risk information. © 2015 John Wiley & Sons Ltd.

  13. An Incidental Finding of the Thyroidea Ima Artery:-A Case Report Study

    Directory of Open Access Journals (Sweden)

    Lalit C. Ratanpara

    2015-12-01

    Full Text Available We are here reporting a case of an incidental finding of the thyroidea ima artery emerging from the brachiocephalic trunk with a typical inferior thyroid vessels on both sides emerging from the thyrocervical trunk. The thyroidea ima artery entered the thyroid gland near to anterior surface of right lobe of thyroid gland. It arose from the brachiocephalic artery proximal to its bifurcation.

  14. Incidental enchondromas at knee magnetic resonance imaging: intraobserver and interobserver agreement and prevalence of imaging findings

    Directory of Open Access Journals (Sweden)

    Sandra Akemi Nakamura

    2013-06-01

    Full Text Available Objective To evaluate intra- and interobserver agreement in the identification of incidental enchondromas at knee magnetic resonance imaging, and to assess the prevalence of imaging findings. Materials and Methods Retrospective study reviewing 326 knee magnetic resonance images acquired in the period between November 2009 and September 2010. The images were independently and blindly analyzed by two specialists in musculoskeletal radiology, with the objective of identifying incidental enchondromas, presence of foci with signal similar to bone marrow and foci of signal absence suggestive of calcifications within the enchondromas. Inter- and intraobserver agreements were analyzed. Results Eleven lesions compatible with enchondromas (3.3% were identified. The interobserver agreement for the presence of enchondroma was high. Prevalence of foci of bone marrow signal inside the enchondromas was of 54.55%, and foci suggestive of calcification corresponded to 36.36%. The intraobserver agreement for foci of bone marrow signal in enchondromas was perfect, and interobserver agreement was high. Conclusion The prevalence of incidental enchondromas in the current study was compatible with data in the literature. Excellent agreement was observed in the identification of enchondromas and in the assessment of imaging findings. A higher prevalence of fat signal foci was observed as compared with signal absence suggestive of calcifications.

  15. Incidental finding of unilateral isolated aplasia of serratus anterior muscle and winged scapula on chest radiograph: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Joon Sung; Park, Hyun Jin; Ko, Jeong Min [Dept. of Radiology, St. Vincent' s Hospital, College of Medicine, The Catholic University of Korea, Suwon (Korea, Republic of)

    2014-10-15

    The isolated aplasia of the serratus anterior muscle with winging of scapula is very rare, and only a few cases are reported. Here, we present a case of a 30-year-old Korean male who initially presented with a left flank pain. His physical exam did not show any significant finding in his right shoulder. However, his chest radiograph showed absence of right serratus anterior muscle and slightly elevated and medially rotated right scapula. Subsequent CT scan showed the right serratus anterior muscle aplasia and medial winging of the right scapula. This case is unique in two aspects. First, the combination of abnormalities is different from the typical congenital abnormalities involving shoulder girdle, such as Sprengel deformity or Poland syndrome. Secondly, this was incidentally diagnosed with chest radiograph, without clinical impression. Careful reading of chest radiograph can help the radiologists to detect such clinically silent abnormalities.

  16. Incidental findings are frequent in young healthy individuals undergoing magnetic resonance imaging in brain research imaging studies

    DEFF Research Database (Denmark)

    Hartwigsen, Gesa; Siebner, Hartwig R; Deuschl, Günther

    2010-01-01

    There is an ongoing debate about how to handle incidental findings (IF) detected in healthy individuals who participate in research-driven magnetic resonance imaging (MRI) studies. There are currently no established guidelines regarding their management....

  17. Gorlin syndrome – an incidental radiographic detection | Shetty | SA ...

    African Journals Online (AJOL)

    Gorlin-Goltz syndrome (also known as nevoid basal cell carcinoma syndrome) was first reported in 1894, but described by Gorlin and Goltz in 1960 as a distinct entity consisting of ectodermal and mesodermal abnormalities.1 It is an hereditary autosomal dominant disease with a prevalence estimated in various studies to ...

  18. Asymptomatic Wolff-Parkinson-White Syndrome: Incidental EKG

    Directory of Open Access Journals (Sweden)

    Samer Assaf

    2017-07-01

    Full Text Available History of present illness: A 38-year-old male presents to the emergency department for a minor trauma evaluation after falling off a bicycle at a moderate rate of speed. The patient was not wearing a helmet when he hit his head with unknown loss of consciousness. Focused assessment with sonography for trauma (FAST exam and head computed tomography (CT were negative. Routine electrocardiogram (ECG showed sinus rhythm with pre-excitation indicative of Wolff-Parkinson-White Syndrome (WPW. The patient confirmed a previous diagnosis of WPW, but had not previously followed up with a cardiologist. Significant findings: The ECG shows slurred up-stroking of the QRS complexes characteristic of a delta wave. The PR interval is normal; however, the QT interval is greater than 110ms. Discussion: Wolff-Parkinson-White Syndrome (WPW is a frequently encountered macro-reentrant arrhythmia characterized by a shortened PR interval less than 120ms, prolonged QRS greater than 120ms with an up-stroking QRS complex (delta wave, and occasional ST abnormalities.1 The incidence is reported to be 0.9%-3% of the general population and most diagnoses are made on routine EKGs.2,3 WPW is thought to be caused by abnormalities of conduction through the accessory pathway, also known as the Bundle of Kent, causing premature excitation of the ventricles. The complications from WPW are supraventricular tachycardia, atrial arrhythmias, and ventricular fibrillation leading to sudden cardiac death.3 Approximately 40-50% of patients who die from sudden cardiac arrest associated with WPW were previously asymptomatic.4 Unfortunately, it is agreed that approximately 50% of patients with WPW are asymptomatic and unaware of their diagnosis.5 The definitive treatment for WPW is radiofrequency catheter ablation (RFCA. However, it comes with a low risk of complications including arrhythmias and death.6 For asymptomatic WPW, children are at the highest risk for ventricular arrhythmias while

  19. Radiographic findings in Marfan's syndrome

    International Nuclear Information System (INIS)

    Watanabe, Yasutaka; Tanaka, Osamu; Koyama, Shinichiro

    2010-01-01

    Spontaneous pneumothorax and apical bulla are included in minor criteria of the diagnosis of Marfan's syndrome. We evaluated the frequency of radiological abnormal findings of the lung in Marfan's syndrome. Lungs could be assessed with CT in 38 cases that were selected from 50 cases in Marfan's syndrome with a cardiovascular disease or the valvular disease. Eleven cases (22%) in 50 cases had the past history of spontaneous pneumothorax. Chest CT scan in 38 cases showed emphysematous bullae in 12 cases, apical scar in eight cases, centrilobular emphysema in three cases, and bronchiectasis in one case. CT manifestations of the lung in Marfan's syndrome were mainly spontaneous pneumothorax and apical bullae as were previously reported. (author)

  20. Abdominal vascular syndromes: characteristic imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: leandrocleite@gmail.com [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem

    2016-07-15

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  1. Abdominal vascular syndromes: characteristic imaging findings

    International Nuclear Information System (INIS)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

    2016-01-01

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  2. Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment.

    Science.gov (United States)

    Regier, Dean A; Peacock, Stuart J; Pataky, Reka; van der Hoek, Kimberly; Jarvik, Gail P; Hoch, Jeffrey; Veenstra, David

    2015-04-07

    An important challenge with the application of next-generation sequencing technology is the possibility of uncovering incidental genomic findings. A paucity of evidence on personal utility for incidental findings has hindered clinical guidelines. Our objective was to estimate personal utility for complex information derived from incidental genomic findings. We used a discrete-choice experiment to evaluate participants' personal utility for the following attributes: disease penetrance, disease treatability, disease severity, carrier status and cost. Study participants were drawn from the Canadian public. We analyzed the data with a mixed logit model. In total, 1200 participants completed our questionnaire (available in English and French). Participants valued receiving information about high-penetrance disorders but expressed disutility for receiving information on low-penetrance disorders. The average willingness to pay was $445 (95% confidence interval [CI] $322-$567) to receive incidental findings in a scenario where clinicians returned information about high-penetrance, medically treatable disorders, but only 66% of participants (95% CI 63%-71%) indicated that they would choose to receive information in that scenario. On average, participants placed an important value ($725, 95% CI $600-$850) on having a choice about what type of findings they would receive, including receipt of information about high-penetrance, treatable disorders or receipt of information about high-penetrance disorders with or without available treatment. The predicted uptake of that scenario was 76% (95% CI 72%-79%). Most participants valued receiving incidental findings, but personal utility depended on the type of finding, and not all participants wanted to receive incidental results, regardless of the potential health implications. These results indicate that to maximize benefit, participant-level preferences should inform the decision about whether to return incidental findings. © 2015

  3. Natural course of asymptomatic abnormal prostate findings incidentally detected by CT after intravesical BCG therapy.

    Science.gov (United States)

    Matsushima, Masashi; Kikuchi, Eiji; Akita, Hirotaka; Miyajima, Akira; Oya, Mototsugu; Jinzaki, Masahiro

    2017-06-01

    Detailed information is not currently available on the incidence, natural course, and management of asymptomatic abnormal prostate findings incidentally detected by radiologic evaluations after BCG therapy for non-muscle-invasive bladder cancer patients. We identified 38 patients who were evaluated by contrast-enhanced CT scans before TUR-BT and after BCG therapy between 2006 and 2012. We evaluated the clinical courses of patients with abnormal radiologic findings of the prostate gland after BCG therapy. Abnormal findings on CT scans were found in the prostate glands of 11 of the 38 patients examined (28.9%), none of whom exhibited any sign or symptom associated with prostatitis. Abnormal findings included a low attenuation area (n = 6, 15.8%), contrast enhancement (n = 3, 7.9%), and a low attenuation area and contrast enhancement in the prostate gland (n = 2, 5.3%). During the follow-up, abnormal prostate findings disappeared spontaneously in most cases without any anti-bacterial or anti-tuberculous drug treatments. No significant differences were observed in patient clinical backgrounds, with the exception of post-BCG prostate volumes, between patients with and without abnormal CT findings. Furthermore, no significant differences were noted in the incidence of the adverse effects of BCG therapy, tumor recurrence rates, or progression rates between patients with and without abnormal CT findings of the prostate gland after BCG therapy. Asymptomatic abnormal prostate findings incidentally detected by CT after BCG therapy are not rare, and these disappear over time during the follow-up period without any treatment.

  4. Radiological findings in NAO syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Al-Otaibi, Leftan; Hugosson, Claes O. [Department of Radiology, King Faisal Specialist Hospital and Research Center, Riyadh (Saudi Arabia); Al-Mayouf, Sulalman M.; Majeed, Mahmoud; Al-Eid, Wea' am; Bahabri, Sultan [Department of Paediatrics, King Faisal Specialist Hospital and Research Center, Riyadh (Saudi Arabia)

    2002-07-01

    Background: Diseases exhibiting osteolysis in children are rare hereditary conditions. Several types have been recognised with different clinical manifestations. One type includes subcutaneous nodules, arthropathy and osteolysis and has been termed NAO syndrome. Previous radiological reports have described the affected bones, usually the carpal and tarsal regions, but a detailed analysis of the radiological findings of both the axial as well as the appendicular skeleton has not been reported. Objectives: To describe the radiological findings in a large group of children with an autosomal recessive disease characterized by nodules, familial arthropathy and osteolysis. Materials and methods: The study comprises 14 patients from 9 families and all patients had the triad of nodulosis, arthropathy and osteolysis (NAO). Results: The most common radiological manifestations were osteopenia, undertubulation of long bones, arthritic changes, sclerotic sutures of the calvaria, osteolysis and muscle contractures. Other common findings were squared vertebrae, broad medial clavicles and brachycephaly. Progress of disease was documented in more than half of the patients. Conclusions: Our study is the first report of the detailed radiological findings of NAO syndrome. In NAO syndrome, both the axial and appendicular skeleton are involved (orig.)

  5. Radiological findings in NAO syndrome

    International Nuclear Information System (INIS)

    Al-Otaibi, Leftan; Hugosson, Claes O.; Al-Mayouf, Sulalman M.; Majeed, Mahmoud; Al-Eid, Wea'am; Bahabri, Sultan

    2002-01-01

    Background: Diseases exhibiting osteolysis in children are rare hereditary conditions. Several types have been recognised with different clinical manifestations. One type includes subcutaneous nodules, arthropathy and osteolysis and has been termed NAO syndrome. Previous radiological reports have described the affected bones, usually the carpal and tarsal regions, but a detailed analysis of the radiological findings of both the axial as well as the appendicular skeleton has not been reported. Objectives: To describe the radiological findings in a large group of children with an autosomal recessive disease characterized by nodules, familial arthropathy and osteolysis. Materials and methods: The study comprises 14 patients from 9 families and all patients had the triad of nodulosis, arthropathy and osteolysis (NAO). Results: The most common radiological manifestations were osteopenia, undertubulation of long bones, arthritic changes, sclerotic sutures of the calvaria, osteolysis and muscle contractures. Other common findings were squared vertebrae, broad medial clavicles and brachycephaly. Progress of disease was documented in more than half of the patients. Conclusions: Our study is the first report of the detailed radiological findings of NAO syndrome. In NAO syndrome, both the axial and appendicular skeleton are involved (orig.)

  6. Prevalence of cartilaginous tumours as an incidental finding on MRI of the knee

    Energy Technology Data Exchange (ETDEWEB)

    Stomp, Wouter; Reijnierse, Monique; Bloem, Johan L. [Leiden University Medical Center, Department of Radiology, Leiden (Netherlands); Kloppenburg, Margreet [Leiden University Medical Center, Department of Rheumatology, Leiden (Netherlands); Leiden University Medical Center, Department of Clinical Epidemiology, Leiden (Netherlands); Mutsert, Renee de; Heijer, Martin den [Leiden University Medical Center, Department of Clinical Epidemiology, Leiden (Netherlands); Bovee, Judith V.M.G. [Leiden University Medical Center, Department of Pathology, Leiden (Netherlands); Collaboration: NEO study group

    2015-12-15

    The purpose was to determine prevalence of enchondromas and atypical cartilaginous tumour/chondrosarcoma grade 1 (ACT/CS1) of the knee on MRI in a large cohort study, namely the Netherlands Epidemiology of Obesity (NEO) study. Participants aged 45 to 65 years were prospectively included, oversampling overweight and obese persons. Within a subgroup of participants, MRI of the right knee was performed and screened for incidental cartilaginous tumours, as defined by their characteristic location and appearance. Forty-nine cartilaginous tumours were observed in 44 out of 1285 participants (estimated population prevalence 2.8 %, 95 % CI 2.0-4.0 %). Mean largest tumour diameter was 12 mm (range 2-31 mm). Eight participants with a tumour larger than 20 mm or a tumour with aggressive features were referred to rule out low-grade chondrosarcoma. One was lost to follow-up, three had histologically proven ACT/CS1 and four had dynamic contrast MRI findings consistent with benign enchondroma. Incidental cartilaginous tumours were relatively common on knee MRI and may be regarded as a normal concurrent finding. However, more tumours than expected were ACT/CS1. Because further examination was performed only when suspicion of chondrosarcoma was high, the actual prevalence might be even higher. (orig.)

  7. Prevalence of cartilaginous tumours as an incidental finding on MRI of the knee

    International Nuclear Information System (INIS)

    Stomp, Wouter; Reijnierse, Monique; Bloem, Johan L.; Kloppenburg, Margreet; Mutsert, Renee de; Heijer, Martin den; Bovee, Judith V.M.G.

    2015-01-01

    The purpose was to determine prevalence of enchondromas and atypical cartilaginous tumour/chondrosarcoma grade 1 (ACT/CS1) of the knee on MRI in a large cohort study, namely the Netherlands Epidemiology of Obesity (NEO) study. Participants aged 45 to 65 years were prospectively included, oversampling overweight and obese persons. Within a subgroup of participants, MRI of the right knee was performed and screened for incidental cartilaginous tumours, as defined by their characteristic location and appearance. Forty-nine cartilaginous tumours were observed in 44 out of 1285 participants (estimated population prevalence 2.8 %, 95 % CI 2.0-4.0 %). Mean largest tumour diameter was 12 mm (range 2-31 mm). Eight participants with a tumour larger than 20 mm or a tumour with aggressive features were referred to rule out low-grade chondrosarcoma. One was lost to follow-up, three had histologically proven ACT/CS1 and four had dynamic contrast MRI findings consistent with benign enchondroma. Incidental cartilaginous tumours were relatively common on knee MRI and may be regarded as a normal concurrent finding. However, more tumours than expected were ACT/CS1. Because further examination was performed only when suspicion of chondrosarcoma was high, the actual prevalence might be even higher. (orig.)

  8. POLAND' SYNDROME: An Incidental findings on routine medical ...

    African Journals Online (AJOL)

    Dr Hamidu

    SM is a 20 year, old young man who came for routine medical check for recruitment into a local football club. Born to a 45 ... mimicking a radical mastectomy. A dense ascending line as a result of the absence of the ... centered around reconstructive surgical procedures on the hand. They may however be some functional.

  9. Return of individual research results and incidental findings in the clinical trials cooperative group setting.

    Science.gov (United States)

    Ferriere, Michael; Van Ness, Brian

    2012-04-01

    The National Cancer Institute (NCI)-funded cooperative group cancer clinical trial system develops experimental therapies and often collects samples from patients for correlative research. The cooperative group bank (CGB) system maintains biobanks with a current policy not to return research results to individuals. An online survey was created, and 10 directors of CGBs completed the surveys asking about understanding and attitudes in changing policies to consider return of incidental findings (IFs) and individual research results (IRRs) of health significance. The potential impact of the 10 consensus recommendations of Wolf et al. presented in this issue are examined. Reidentification of samples is often not problematic; however, changes to the current banking and clinical trial systems would require significant effort to fulfill an obligation of recontact of subjects. Additional resources, as well as a national advisory board would be required to standardize implementation.

  10. Incidental Finding of Inferior Vena Cava Atresia Presenting with Deep Venous Thrombosis following Physical Exertion

    Directory of Open Access Journals (Sweden)

    Shalini Koppisetty

    2015-01-01

    Full Text Available Inferior vena cava atresia (IVCA is a rare but well described vascular anomaly. It is a rare risk factor for deep venous thrombosis (DVT, found in approximately 5% of cases of unprovoked lower extremity (LE DVT in patients <30 years of age. Affected population is in the early thirties, predominantly male, often with a history of major physical exertion and presents with extensive or bilateral DVTs. Patients with IVC anomalies usually develop compensatory circulation through the collateral veins with enlarged azygous/hemizygous veins. Despite the compensatory circulation, the venous drainage of the lower limbs is often insufficient leading to venous stasis and thrombosis. We describe a case of extensive and bilateral deep venous thrombosis following physical exertion in a thirty-six-year-old male patient with incidental finding of IVCA on imaging.

  11. Skin findings in Williams syndrome.

    Science.gov (United States)

    Kozel, Beth A; Bayliss, Susan J; Berk, David R; Waxler, Jessica L; Knutsen, Russell H; Danback, Joshua R; Pober, Barbara R

    2014-09-01

    Previous examination in a small number of individuals with Williams syndrome (also referred to as Williams-Beuren syndrome) has shown subtly softer skin and reduced deposition of elastin, an elastic matrix protein important in tissue recoil. No quantitative information about skin elasticity in individuals with Williams syndrome is available; nor has there been a complete report of dermatologic findings in this population. To fill this knowledge gap, 94 patients with Williams syndrome aged 7-50 years were recruited as part of the skin and vascular elasticity (WS-SAVE) study. They underwent either a clinical dermatologic assessment by trained dermatologists (2010 WSA family meeting) or measurement of biomechanical properties of the skin with the DermaLab™ suction cup (2012 WSA family meeting). Clinical assessment confirmed that soft skin is common in this population (83%), as is premature graying of the hair (80% of those 20 years or older), while wrinkles (92%), and abnormal scarring (33%) were detected in larger than expected proportions. Biomechanical studies detected statistically significant differences in dP (the pressure required to lift the skin), dT (the time required to raise the skin through a prescribed gradient), VE (viscoelasticity), and E (Young's modulus) relative to matched controls. The RT (retraction time) also trended longer but was not significant. The biomechanical differences noted in these patients did not correlate with the presence of vascular defects also attributable to elastin insufficiency (vascular stiffness, hypertension, and arterial stenosis) suggesting the presence of tissue specific modifiers that modulate the impact of elastin insufficiency in each tissue. © 2014 Wiley Periodicals, Inc.

  12. Incidental Findings in the Use of DNA to Identify Human Remains: An Ethical Assessment

    Science.gov (United States)

    Parker, Lisa S.; Aronson, Jay D.

    2012-01-01

    DNA analysis is increasingly used to identify the remains of victims of conflicts and disasters. This is especially true in cases where remains are badly damaged and fragmented, or where antemortem records are unavailable. Incidental findings (IFs)—that is, genetics-related information for which investigators were not looking—may result from these identification efforts employing DNA analysis. Because of the critical role played by family members of the missing in identification efforts, as well as the familial nature of DNA, identification initiatives employing DNA analysis are particularly prone to reveal IFs about familial relationships, such as misattributed paternity or false beliefs about sibling relationships. Despite forensic scientists’ widespread awareness of the possibility of generating IFs, to date there has been relatively little explicit guidance about their management. This paper fills that gap. It offers substantive guidance about the ethical management of IFs in this context. To ensure that the analysis addresses actual needs and practices in the field, one author (JDA) conducted semi-structured interviews with key informants from six regionally diverse organizations involved in post-conflict or post-disaster identification efforts. The paper first describes how methods of DNA analysis give rise to IFs. Next, it explains the importance of developing an ethically justified general policy for managing IFs and discusses features of DNA identification efforts that are relevant to such a policy. Then it presents an argument in support of a general policy of nondisclosure—specifically, that considerations of fair access to the individual and social benefits of identification efforts, and the concern to minimize and fairly distribute the risks of participation, support a policy of nondisclosure. It concludes by considering some implications of this argument for the choice among scientific practices involved in using DNA analysis to identify human

  13. Impact of incidental findings on integrated 2-[18F]-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography in patients with gastric cancer.

    Science.gov (United States)

    Tae, Chung Hyun; Lee, Jun Haeng; Choi, Joon Young; Min, Byung-Hoon; Rhee, Poong-Lyul; Kim, Jae J

    2015-03-01

    Since positron emission tomography/computed tomography (PET/CT) has been introduced, many incidental findings have been identified. The aim of this study was to assess the clinical significance of incidental findings on PET/CT in patients with gastric cancer. A total of 421 patients with gastric cancer underwent PET/CT for initial staging. Incidental findings on PET/CT were classified into five categories according to clinical significance--normal variant, benign, probably benign, probably malignant, and definitely malignant. We obtained information regarding follow-up examinations, additional visits, final diagnosis of incidental findings and short-term medical costs for further evaluation. Eight hundred eighty-two incidental findings were detected in 386 (91.7%) patients. Of 274 incidental findings classified as probably benign, probably malignant or definitely malignant, 130 required one or more additional investigations. Finally, 12 (9.2%) were proved to be associated with second primary malignancy or metastasis of gastric cancer. One hundred twenty-nine additional outpatient visits and 10 additional hospitalizations were needed for evaluating the incidental findings. The treatment strategy for gastric cancer was changed in one patient. The estimated cost of additional investigations was $US283 (95% CI: $US248-$US311) per patient. Incidental findings on PET/CT were common. Although the incidental findings were suspicious of malignancy, most were benign with high costs for additional investigations. © 2015 Wiley Publishing Asia Pty Ltd.

  14. Managing Incidental Findings and Research Results in Genomic Research Involving Biobanks & Archived Datasets

    Science.gov (United States)

    Wolf, Susan M.; Crock, Brittney N.; Van Ness, Brian; Lawrenz, Frances; Kahn, Jeffrey P.; Beskow, Laura M.; Cho, Mildred K.; Christman, Michael F.; Green, Robert C.; Hall, Ralph; Illes, Judy; Keane, Moira; Knoppers, Bartha M.; Koenig, Barbara A.; Kohane, Isaac S.; LeRoy, Bonnie; Maschke, Karen J.; McGeveran, William; Ossorio, Pilar; Parker, Lisa S.; Petersen, Gloria M.; Richardson, Henry S.; Scott, Joan A.; Terry, Sharon F.; Wilfond, Benjamin S.; Wolf, Wendy A.

    2013-01-01

    Biobanks and archived datasets collecting samples and data have become crucial engines of genetic and genomic research. Unresolved, however, is what responsibilities biobanks should shoulder to manage incidental findings (IFs) and individual research results (IRRs) of potential health, reproductive, or personal importance to individual contributors (using “biobank” here to refer to both collections of samples and collections of data). This paper reports recommendations from a 2-year, NIH-funded project. The authors analyze responsibilities to manage return of IFs and IRRs in a biobank research system (primary research or collection sites, the biobank itself, and secondary research sites). They suggest that biobanks shoulder significant responsibility for seeing that the biobank research system addresses the return question explicitly. When re-identification of individual contributors is possible, the biobank should work to enable the biobank research system to discharge four core responsibilities: to (1) clarify the criteria for evaluating findings and roster of returnable findings, (2) analyze a particular finding in relation to this, (3) re-identify the individual contributor, and (4) recontact the contributor to offer the finding. The authors suggest that findings that are analytically valid, reveal an established and substantial risk of a serious health condition, and that are clinically actionable should generally be offered to consenting contributors. The paper specifies 10 concrete recommendations, addressing new biobanks and biobanks already in existence. PMID:22436882

  15. Frequency and clinical significance of previously undetected incidental findings detected on computed tomography simulation scans for breast cancer patients.

    Science.gov (United States)

    Nakamura, Naoki; Tsunoda, Hiroko; Takahashi, Osamu; Kikuchi, Mari; Honda, Satoshi; Shikama, Naoto; Akahane, Keiko; Sekiguchi, Kenji

    2012-11-01

    To determine the frequency and clinical significance of previously undetected incidental findings found on computed tomography (CT) simulation images for breast cancer patients. All CT simulation images were first interpreted prospectively by radiation oncologists and then double-checked by diagnostic radiologists. The official reports of CT simulation images for 881 consecutive postoperative breast cancer patients from 2009 to 2010 were retrospectively reviewed. Potentially important incidental findings (PIIFs) were defined as any previously undetected benign or malignancy-related findings requiring further medical follow-up or investigation. For all patients in whom a PIIF was detected, we reviewed the clinical records to determine the clinical significance of the PIIF. If the findings from the additional studies prompted by a PIIF required a change in management, the PIIF was also recorded as a clinically important incidental finding (CIIF). There were a total of 57 (6%) PIIFs. The 57 patients in whom a PIIF was detected were followed for a median of 17 months (range, 3-26). Six cases of CIIFs (0.7% of total) were detected. Of the six CIIFs, three (50%) cases had not been noted by the radiation oncologist until the diagnostic radiologist detected the finding. On multivariate analysis, previous CT examination was an independent predictor for PIIF (p = 0.04). Patients who had not previously received chest CT examinations within 1 year had a statistically significantly higher risk of PIIF than those who had received CT examinations within 6 months (odds ratio, 3.54; 95% confidence interval, 1.32-9.50; p = 0.01). The rate of incidental findings prompting a change in management was low. However, radiation oncologists appear to have some difficulty in detecting incidental findings that require a change in management. Considering cost, it may be reasonable that routine interpretations are given to those who have not received previous chest CT examinations within 1 year

  16. An incidental case of biliary fascioliasis with subtle clinical findings: US and MRCP findings

    International Nuclear Information System (INIS)

    Önder, Hakan; Ekici, Faysal; Adin, Emin; Kuday, Suzan; Gümüş, Hatice; Bilici, Aslan

    2013-01-01

    Fascioliasis is a disease caused by the trematode Fasciola hepatica. Cholangitis is a common clinical manifestation. Although fascioliasis may show various radiological and clinical features, cases without biliary dilatation are rare. We present unique ultrasound (US) and magnetic resonance cholangiopancreatography (MRCP) findings of a biliary fascioliasis case which doesn’t have biliary obstruction or cholestasis. Radiologically, curvilinear parasites compatible with juvenile and mature Fasciola hepatica within the gallbladder and common bile duct were found. The parasites appear as bright echogenic structures with no acoustic shadow on US and hypo-intense curvilinear lesions on T2 weighted MRCP images. Imaging studies may significantly contribute to the diagnosis of patients with subtle clinical and laboratory findings, particularly in endemic regions

  17. Point-of-Care Reference Materials Increase Practice Compliance With Societal Guidelines for Incidental Findings in Emergency Imaging.

    Science.gov (United States)

    Zygmont, Matthew E; Shekhani, Haris; Kerchberger, James Matthew; Johnson, Jamlik-Omari; Hanna, Tarek N

    2016-12-01

    The aim of this study was to assess the efficacy of an educational framework encouraging the systematic application of national societal recommendations regarding the imaging evaluation and follow-up of incidental findings (IFs) in the emergency department. After institutional review board approval was received, consecutive CT and ultrasonographic examinations from the emergency department over a 2-month period were collected. Examination reports were categorized by study type and evaluated individually for the presence of IFs that fit into the following core categories: solid or subsolid pulmonary nodules, liver lesions, splenic lesions, gallbladder polyps, pancreatic cystic lesions, adrenal nodules, adnexal cysts on CT or ultrasonography, thyroid nodules (CT), and abnormal lymph nodes. Subsequently, after an educational intervention consisting of printed and electronic references, e-mail, and verbal communication detailing societal guidelines and the introduction of voice recognition macros, data were recollected in the same fashion for an additional 2-month period. A total of 3,131 imaging events occurred in the 2-month preintervention period, yielding 514 total incidental findings. Of these 514 findings, 67.5% were correctly managed and 32.5% were incorrectly managed according to societal recommendations. In the postintervention period, 3,793 imaging events yielded 499 total incidental findings. Of these 499 findings, 80.2% were correctly managed and 19.8% were incorrectly managed. The increased rate of reporting incidental findings in concordance with societal guidelines was statistically significant (P societal guidelines for incidental findings. Compliance with societal guidelines improves patient care and has cost-saving implications. Copyright © 2016 American College of Radiology. Published by Elsevier Inc. All rights reserved.

  18. Prevalence, Clinical Management, and Natural Course of Incidental Findings on Brain MR Images: The Population-based Rotterdam Scan Study.

    Science.gov (United States)

    Bos, Daniel; Poels, Marielle M F; Adams, Hieab H H; Akoudad, Saloua; Cremers, Lotte G M; Zonneveld, Hazel I; Hoogendam, Yoo Y; Verhaaren, Benjamin F J; Verlinden, Vincent J A; Verbruggen, Jasper G J; Peymani, Abbas; Hofman, Albert; Krestin, Gabriel P; Vincent, Arnaud J; Feelders, Richard A; Koudstaal, Peter J; van der Lugt, Aad; Ikram, M Arfan; Vernooij, Meike W

    2016-11-01

    Purpose To present an updated prevalence estimate for incidental findings on brain magnetic resonance (MR) images and provide information on clinical relevance, including natural course, over a period of up to 9 years. Materials and Methods This study was approved by the institutional review board and all participants gave informed consent. In a prospective population-based setting, structural brain MR imaging was performed in 5800 participants (mean age, 64.9 years; 3194 women [55.1%]). Trained reviewers recorded abnormalities, which were subsequently evaluated by neuroradiologists. The prevalence with 95% confidence interval (CI) of incidental findings was determined, and clinical management of findings that required the attention of a medical specialist was followed. Follow-up imaging in the study context provided information on the natural course of findings that were not referred. Results In 549 of 5800 participants (9.5% [95% CI: 8.7%, 10.3%]), incidental findings were found, of which meningiomas (143 of 5800; 2.5% [95% CI: 2.1%, 2.9%]) and cerebral aneurysms (134 of 5800; 2.3% [95% CI: 2.0%, 2.7%]) were most common. A total of 188 participants were referred to medical specialists for incidental findings (3.2% [95% CI: 2.8%, 3.7%]). Of these, 144 (76.6% [95% CI: 70.1%, 82.1%]) either underwent a wait-and-see policy or were discharged after the initial clinical visit. The majority of meningiomas and virtually all aneurysms not referred or referred but untreated remained stable in size during follow-up. Conclusion Incidental findings at brain MR imaging that necessitate further diagnostic evaluation occur in over 3% of the general middle-aged and elderly population, but are mostly without direct clinical consequences. © RSNA, 2016.

  19. Natural language processing of radiology reports for the detection of thromboembolic diseases and clinically relevant incidental findings.

    Science.gov (United States)

    Pham, Anne-Dominique; Névéol, Aurélie; Lavergne, Thomas; Yasunaga, Daisuke; Clément, Olivier; Meyer, Guy; Morello, Rémy; Burgun, Anita

    2014-08-07

    Natural Language Processing (NLP) has been shown effective to analyze the content of radiology reports and identify diagnosis or patient characteristics. We evaluate the combination of NLP and machine learning to detect thromboembolic disease diagnosis and incidental clinically relevant findings from angiography and venography reports written in French. We model thromboembolic diagnosis and incidental findings as a set of concepts, modalities and relations between concepts that can be used as features by a supervised machine learning algorithm. A corpus of 573 radiology reports was de-identified and manually annotated with the support of NLP tools by a physician for relevant concepts, modalities and relations. A machine learning classifier was trained on the dataset interpreted by a physician for diagnosis of deep-vein thrombosis, pulmonary embolism and clinically relevant incidental findings. Decision models accounted for the imbalanced nature of the data and exploited the structure of the reports. The best model achieved an F measure of 0.98 for pulmonary embolism identification, 1.00 for deep vein thrombosis, and 0.80 for incidental clinically relevant findings. The use of concepts, modalities and relations improved performances in all cases. This study demonstrates the benefits of developing an automated method to identify medical concepts, modality and relations from radiology reports in French. An end-to-end automatic system for annotation and classification which could be applied to other radiology reports databases would be valuable for epidemiological surveillance, performance monitoring, and accreditation in French hospitals.

  20. MR findings of kallmann syndrome : case reports

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sung Mi; Choi, Jin Ok; Lee, Kang Soo [Presbyterian Medical Center, Chunju (Korea, Republic of); Choi, See Sung [Wonkwang University Hospital, Chunju (Korea, Republic of)

    2000-04-01

    Kallman syndrome is characterised by hypogonadotrophic hypogonadism and anosmia. T1-weighted MR coronal images show the bilateral absence or hypoplasia of olfactory bulbs, tracts, and sulci. We report the MR findings of Kallmann syndrome and review the literature. (author)

  1. Primary colonic lymphoma: An incidental finding in a patient with a gallstone attack.

    Science.gov (United States)

    Gigli, Silvia; Buonocore, Valeria; Barchetti, Flavio; Glorioso, Marianna; Di Brino, Martina; Guerrisi, Pietro; Buonocore, Chiara; Giovagnorio, Francesco; Giraldi, Guglielmo

    2014-05-16

    We report a case of primary colonic lymphoma incidentally diagnosed in a patient presenting a gallbladder attack making particular attention on the diagnostic findings at ultrasound (US) and total body computed tomography (CT) exams that allowed us to make the correct final diagnosis. A 85-year-old Caucasian male patient was referred to our department due to acute pain at the upper right quadrant, spreaded to the right shoulder blade. Patient had nausea and mild fever and Murphy's maneuver was positive. At physical examination a large bulky mass was found in the right flank. Patient underwent to US exam that detected a big stone in the lumen of the gallbladder and in correspondence of the palpable mass, an extended concentric thickening of the colic wall. CT scan was performed and confirmed a widespread and concentric thickening of the wall of the ascending colon and cecum. In addition, revealed signs of microperforation of the colic wall. Numerous large lymphadenopathies were found in the abdominal, pelvic and thoracic cavity and there was a condition of splenomegaly, with some ischemic outcomes in the context of the spleen. No metastasis in the parenchimatous organs were found. These imaging findings suggest us the diagnosis of lymphoma. Patient underwent to surgery, and right hemicolectomy and cholecystectomy was performed. Histological examination confirmed our diagnosis, revealing a diffuse large B-cell lymphoma. The patient underwent to Cyclophosphamide, Hydroxydaunorubicin, Oncovin, Prednisone chemotherapy showing only a partial regression of the lymphadenopathies, being in advanced stage at the time of diagnosis.

  2. Extraspinal incidental findings on routine MRI of lumbar spine: Prevalence and reporting Rates in 1278 patients

    Energy Technology Data Exchange (ETDEWEB)

    Tuncel, Sedat Alpaslan; Cagli, Bekir; Tekatas, Aslan; Kirici, Yadigar Mehmet; Unlu, Ercument; Genchellac, Haken [Trakya University Faculty of Medicine, Balkan Campus, Edirne (Turkmenistan)

    2015-08-15

    The aim of the present study was to determine the prevalence and reporting rate of incidental findings (IF) in adult outpatients undergoing lumbar magnetic resonance imaging (MRI). Re-evaluation of a total of 1278 lumbar MRI images (collected from patients with a mean age of 50.5 years, range 16-91 years) captured between August 2010-August 2011 was done by a neuroradiologist and a musculoskeletal radiologist. IFs were classified according to organ or system (liver, gallbladder, kidney, bladder, uterus, ovary, lymph node, intestine and aorta). The rate of reporting of a range of IF was examined. The outcome of each patient's treatment was evaluated based on review of hospital records and by telephone interviews. A total of 253 IFs were found in 241 patients (18.8% of 1278). Among these, clinically significant IFs (n = 34) included: 2 renal masses (0.15%), 2 aortic aneurysms (0.15%), 2 cases of hydronephrosis (0.15%), 11 adrenal masses (0.86%), 7 lymphadenopathies (0.55%), 6 cases of endometrial or cervical thickening (0.47%), 1 liver hemangioma (0.08%), 1 pelvic fluid (0.08%) and 2 ovarian dermoid cysts (0.15%). Overall, 28% (71/253) of IFs were included in the clinical reports, while clinically significant findings were reported in 41% (14/34) of cases. Extraspinal IFs are commonly detected during a routine lumbar MRI, and many of these findings are not clinically significant. However, IFs including clinically important findings are occasionally omitted from formal radiological reports.

  3. Incidental extracerebral findings on brain nonenhanced magnetic resonance imaging: frequency, nondetection rate, and clinical importance

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Ming-Liang; Wei, Xiao-Er [School of Medicine, Department of Radiology, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai (China); Lu, Li-Yan [Nanjing Medical University, Department of Radiology, Nanjing First Hospital, Nanjing (China); Li, Wen-Bin [School of Medicine, Department of Radiology, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai (China); Kashgar Prefecture Second People' s Hospital, Imaging Center, Kashgar (China)

    2017-03-15

    This study aims to elucidate the frequency, nondetection rate, and clinical importance of incidental extracerebral findings (IECFs) on brain nonenhanced magnetic resonance imaging (MRI). A total of 8284 brain MRIs performed between January 1, 2015 and December 31, 2015 were evaluated for the presence of IECFs and the distribution of IECFs was analyzed. IECFs were categorized as E1 (clinically unimportant, e.g., sinus mucosal thickening); E2 (likely unimportant, e.g., pharyngeal mucosal symmetrical thickening); and E3 (potentially important, e.g., pharyngeal mucosal asymmetrical thickening). The nondetection rate was determined by comparing the results of the structured approach with the initial MRI reports. The medical records were examined for patients with E3 IECFs to assess clinical importance and outcome of these lesions. A total of 5992 IECFs were found in 4469 of the 8284 patients (54.0%). E1 findings constituted 82.2% (4924/5992) of all IECFs; E2 constituted 16.6% (995/5992) and E3 constituted 1.2% (73/5992). Overall IECFs and E1 findings were significantly more common in male patients (P < 0.05). Statistically significant difference was also seen between the different age groups (P < 0.001). The nondetection rate was 56.9% (3409/5992) for overall IECFs and 32.9% (24/73) for E3 IECFs. Of the 73 patients with E3 IECFs, 34 (46.6%) received final diagnosis and appropriate treatment during the study period. IECFs are prevalent in clinical patients on brain MR images with a nondetection rate of 32.9% for potentially important (E3) findings. The reporting of IECFs according to clinical importance is helpful for patients' management. (orig.)

  4. Incidental finding of knee osteoarthritis in bone scans performed in obese patients with neoplasia

    International Nuclear Information System (INIS)

    Regalado R, R.; Morales G, R.; Cano P, R.; Mendoza P, G.; Vidal N, L.

    1996-01-01

    Bone scanning performed in the Nuclear Medicine Center (IPEN-INEN) to patients with neoplastic diagnosis between January 1995 and June 1996, permitted the incidental finding of increased uptake images in the knees of 28 patients associated to an asymptomatic arthropathy: osteoarthritis. The histories and bone scanning of this patients were reviewed obtaining their weight, occupation, symptomatology, neoplastic diagnosis and previous scan diagnosis. Patients under 66 years old, asymptomatic, were included, not presenting secondary focuses, without arthropathia antecedent and with a body mass index equal or above class I. The arthropathy was classified according to the localization of the compromised compartment of the knee. >From the body mass index assessment of every patient it was obtained: Class I=12, Class II=11, Class III=3 and Class IV=1. The predominant localization of the osteoarthritic lesions was the patellar zone. We discuss factors that may influence the absence of symptoms of this disease, the relation obesity-osteoarthritis and the usefulness of bone scanning in the diagnosis of this arthropathy in these patients. (authors). 16 refs., 1 fig., 3 tabs

  5. Genetics specialists’ perspectives on disclosure of genomic incidental findings in the clinical setting

    Science.gov (United States)

    Downing, Nancy R.; Williams, Janet K.; Daack-Hirsch, Sandra; Driessnack, Martha; Simon, Christian M.

    2012-01-01

    Objective Evidence documenting management of incidental findings (IFs) from clinical genomic testing is limited. The aim of this study was to examine genetics specialists’ perspectives regarding current and preferred disclosure of clinical genomic IFs. Methods 50 genetics specialists, including medical geneticists, laboratory professionals, genetic counselors, and nurses participated in structured telephone interviews. Data were analyzed using qualitative content analysis and descriptive statistics. Results Most specialists had encountered IFs, but definitions of IFs varied. They discussed challenges with informing patients about the prospect of IFs and disclosing IFs to patients. Causing psychological harm to patients was a concern. Participants were divided on whether IFs needed to be clinically significant and/or actionable in order to be disclosed to patients. Creating formal disclosure guidelines was considered useful, but only if they were flexible. Additional counseling, more interdisciplinary communication, maintaining contact with patients, and a centralized database to interpret IFs were also proposed. Conclusion Genetics specialists offer insights into the challenges of defining IFs, knowing when and how to disclose them, and the potential need for flexible disclosure guidelines. Practice Implications Further discussion between practicing genetics specialists is needed to develop consensus on the development of best-practice guidelines for IF management. PMID:23068909

  6. Right Hemispheric Leukoencephalopathy as an Incidental Finding Following a Lightning Strike.

    Science.gov (United States)

    Kruja, Jera; Kuqo, Altin; Grabova, Serla; Rroji, Arben; Vyshka, Gentian

    2016-12-15

    Lightning injuries may produce a variety of medical conditions, and specific neurological complications have been identified, with the character of immediate aftershock effects or even long-term consequences. The authors describe the incidental finding following a routine unenhanced brain MRI performed to a young female patient, suffering from a headache. Diffuse white matter changes with the character of a leukoencephalopathy were seen, which strictly interested only the right cerebral hemisphere. The parents referred that she suffered from an indoor lightning strike at age of seven months, although she survived with almost no external burns or signs, and recovered uneventfully at that time. A discussion over the effects of electrocution and lightning strike on the human body in general, and over the nervous system, is made. Particular attention must be shown when making the differential diagnosis of leukoencephalopathies with a strictly one-hemisphere extension since several other conditions might resemble each other under the radiological aspect, here including brain viral infections, genetic disorders, and so on. The particularity of the long-term aftershock effects of the lightning strike on the central nervous system raise again the necessity of collecting data and duly reporting every electrical accident, lightning events included.

  7. Rib osteoblastoma as an incidental finding in a patient with adolescent idiopathic scoliosis: a case report.

    Science.gov (United States)

    Lykissas, Marios G; Crawford, Alvin H; Abruzzo, Todd A

    2013-11-01

    The purpose of this article is to present an unreported case of rib osteoblastoma associated with progressive adolescent idiopathic scoliosis and to discuss thoracogenic scoliosis as a potential cause of curve progression after tumor resection. An 11-year and 8-month-old girl with adolescent idiopathic scoliosis was referred with an incidental finding of an expansile lesion in the posterior left seventh rib. A computed tomography-guided needle biopsy established the diagnosis of benign osteoblastoma. Transarterial embolization was performed followed by wide resection. Sixteen months after surgery the patient underwent posterior spinal fusion to address her scoliosis progression during the growth spurt. Forty-one and 25 months after rib resection and spinal fusion, respectively, the patient remains asymptomatic, without local tumor recurrence, and with excellent correction of her spinal deformity. Although scoliosis secondary to rib osteoblastoma has been described in the literature, rib osteoblastoma may coexist with idiopathic scoliosis. In such a case, surgical management of osteoblastoma should not interfere with treatment of idiopathic scoliosis.

  8. Considering Actionability at the Participant's Research Setting Level for Anticipatable Incidental Findings from Clinical Research.

    Science.gov (United States)

    Ortiz-Osorno, Alberto Betto; Ehler, Linda A; Brooks, Judith

    2015-01-01

    Determining what constitutes an anticipatable incidental finding (IF) from clinical research and defining whether, and when, this IF should be returned to the participant have been topics of discussion in the field of human subject protections for the last 10 years. It has been debated that implementing a comprehensive IF-approach that addresses both the responsibility of researchers to return IFs and the expectation of participants to receive them can be logistically challenging. IFs have been debated at different levels, such as the ethical reasoning for considering their disclosure or the need for planning for them during the development of the research study. Some authors have discussed the methods for re-contacting participants for disclosing IFs, as well as the relevance of considering the clinical importance of the IFs. Similarly, other authors have debated about when IFs should be disclosed to participants. However, no author has addressed how the "actionability" of the IFs should be considered, evaluated, or characterized at the participant's research setting level. This paper defines the concept of "Actionability at the Participant's Research Setting Level" (APRSL) for anticipatable IFs from clinical research, discusses some related ethical concepts to justify the APRSL concept, proposes a strategy to incorporate APRSL into the planning and management of IFs, and suggests a strategy for integrating APRSL at each local research setting. © 2015 American Society of Law, Medicine & Ethics, Inc.

  9. Institutional review board perspectives on obligations to disclose genetic incidental findings to research participants.

    Science.gov (United States)

    Gliwa, Catherine; Yurkiewicz, Ilana R; Lehmann, Lisa Soleymani; Hull, Sara Chandros; Jones, Nathan; Berkman, Benjamin E

    2016-07-01

    Researchers' obligations to disclose genetic incidental findings (GIFs) have been widely debated, but there has been little empirical study of the engagement of institutional review boards (IRBs) with this issue. This article presents data from the first extensive (n = 796) national survey of IRB professionals' understanding of, experience with, and beliefs surrounding GIFs. Most respondents had dealt with questions about GIFs (74%), but only a minority (47%) felt prepared to address them. Although a majority believed that there is an obligation to disclose GIFs (78%), there is still not consensus about the supporting ethical principles. Respondents generally did not endorse the idea that researchers' additional time and effort (7%), and lack of resources (29%), were valid reasons for diminishing a putative obligation. Most (96%) supported a right not to know, but this view became less pronounced (63%) when framed in terms of specific case studies. IRBs are actively engaged with GIFs but have not yet reached consensus. Respondents were uncomfortable with arguments that could be used to limit an obligation to return GIFs. This could indicate that IRBs are providing some of the impetus for the trend toward returning GIFs, although questions remain about the relative contribution of other stakeholders.Genet Med 18 7, 705-711.

  10. Radiological findings in Wolfram syndrome

    International Nuclear Information System (INIS)

    Hadidy, Azmy M.; Jarrah, Nadim S.; Al-Till, Maha I.; Ajlouni, Kamal M.; El-Shanti, Haten E.

    2004-01-01

    To determine the precise radiologic findings in Wolfram syndrome (WFS) patients using objective techniques in order to better define the reference population for the clinicl evaluation. 16 patients (6 males, 10 female) with WFS found in 4 families were included in this study.14 patients with WFS-2 came from 3 families while 2 patients with EFS-1 came from one family. All patients were studied at Jordan University Hospital, Amman,Jordan from January 2001 to January 2003 by definite radiologic techniques as part of a thorough clinical comprehesive assesment. These incclude intravenous urography, abdominal and pelvic ultrasonography, barium meal, upper gastrointestinal endoscopy and magnetic resonance imaging with and without contrasts to the brain and the pituitary glands.5 of the female ptients had a small uterus. Spina bifida was found in 7, hydronephrosis in 9 and hydroureter in 5 patiets. Peptic ulcer was detected in 10 out of 14 available patients and helicobacter pylori in 7 out of 16 patients. Atrophy was detected was detected in all brains, 9 brain stems, 12 cerebellums and 14 optic tracts of all patients. The size of pituitary glands was variable. The particular radiological assesment of the patients with WFS proved that, urinary tract dialtation was detected in WFS-1and WFS-2 patients though all WFS-2 patients.No significant radiologic difference was between patients with WFS-1 and WFS-2. (author)

  11. The Clinical Dilemma of Incidental Findings on the Low-Resolution CT Images from SPECT/CT MPI Studies.

    Science.gov (United States)

    Coward, Joanne; Nightingale, Julie; Hogg, Peter

    2016-09-01

    Incidental findings are common in medical imaging. There is a particularly high prevalence of incidental findings within the thorax, the most frequent being pulmonary nodules. Although pulmonary nodules have the potential to be malignant, most are benign, resulting in a high number of false-positive findings. Low-resolution CT images produced for attenuation correction of SPECT images are essentially a by-product of the imaging process. The high number of false-positive incidental findings detected on these attenuation-correction images causes a reporting dilemma. Early detection of cancer can be beneficial, but false-positive findings and overdiagnosis can be detrimental to the patient. Attenuation-correction CT images are not of diagnostic quality, and further diagnostic tests are usually necessary for a definitive diagnosis to be reached. Given the high number of false-positive findings, the psychologic effect on the patient should be considered. This review recommends caution when the findings on attenuation-correction CT images are routinely reported. © 2016 by the Society of Nuclear Medicine and Molecular Imaging, Inc.

  12. Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned.

    Science.gov (United States)

    Duong, Bich-Thu; Savarirayan, Ravi; Winship, Ingrid

    2016-01-01

    Incidental findings are inevitable as clinical research and practice transitions from a single gene approach to a genomic approach. A novel deletion of the Fumarate Hydratase (FH) gene was identified in a 22 year old male who underwent a molecular karyotype as part of an autism spectrum disorder research project. This unexpected result implies a predisposition to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), a rare, autosomal dominant condition and has unforeseen implications for him and his family. We review the typical features and management of HLRCC and discuss the challenges that face health professionals, as genetic testing advances and becomes more accessible.

  13. Adult polysplenia syndrome.CT findings

    International Nuclear Information System (INIS)

    Sebastia, M.C.; Hernandez, D.; Garriga, V.; Alvarez-Castells, A.

    1997-01-01

    We present a case of polysplenia in a 55-year-old patient that was diagnosed incidentally by CT. Chest X-ray disclosed a hooked prominence of the azygos vein over right hilum, left bronchial isomerism and the absence of the inferior vena cava in an X-ray of the right side. The abdominal CT findings included multiple spleens and stomach in upper right quadrant, centrally located liver and gallbladder, intestinal malrotation, interrupted inferior vena cava continued in the azygos system, and short pancreas. Echocardiography revealed mitral stenosis not associated with cardiac malformation. (Author)

  14. Primary thymic extranodal marginal zone B cell lymphoma as an incidental finding in a Caucasian woman

    DEFF Research Database (Denmark)

    Krogh Petersen, Jeanette; Larsen, Thomas Stauffer; Møller, Michael Boe

    2015-01-01

    Primary thymic extranodal marginal zone B cell lymphoma (TML) is an extremely rare lymphoma strongly associated with autoimmune disease. We report an exceedingly rare case of TML found in a non-Asian population. TML was found incidentally in a 60-year-old Caucasian woman with a short history...

  15. Incidental extracolonic findings on bright lumen MR colonography in a population at increased risk for colorectal carcinoma

    International Nuclear Information System (INIS)

    Yusuf, Erlangga; Florie, Jasper; Nio, Chung Yung; Jensch, Sebastian; Nievelstein, Rutger A.J.; Baak, Lubbertus; Stoker, Jaap

    2011-01-01

    Purpose: Incidental extracolonic findings affect patient treatment and cost. Therefore, to consider magnetic resonance colonography (MRC) as a tool for colorectal cancer and polyps screening, more knowledge is needed on extracolonic findings. In this study, we sought to determine the prevalence and the spectrum of extracolonic findings in patients with an increased risk colorectal cancer that underwent bright lumen MRC. Materials and methods: MRC examinations were performed in 210 patients. A gadolinium solution was administered rectally for distension of the colon. Extracolonic findings were scored by two radiologists and classified by using C-RADS Reporting System. All findings (with advice regarding work-up) were reported to the patient's physician and followed up for 4.5 years on average. Results: Extracolonic findings were found in 125 (59.5%) patients. Ten (4.8%) had 'potentially important' findings (C-RADS category E4). Twenty-five patients (11.9%) had 'likely unimportant' findings (E3), 90 (42.8%) had 'clinically unimportant' findings (E2) and 85 (40.5%) had a normal exam (E1). In 14 (6.7%) patients additional work-up was performed for their incidentally discovered lesions. In three of them surgery was performed. After work-up, only in two (1.0%) patients a malignancy was found. Conclusion: The number of new relevant extracolonic findings is small and the required additional work-up is limited. This should be considered for implementation of 'bright lumen' MRC as a screening tool.

  16. Incidental head and neck findings on 18F-fluoro-deoxy-glucose positron emission tomography computed tomography.

    Science.gov (United States)

    Williams, S P; Kinshuck, A J; Williams, C; Dwivedi, R; Wieshmann, H; Jones, T M

    2015-09-01

    The overlapping risk factors for lung and head and neck cancer present a definite risk of synchronous malignant pathology. This is the first study to specifically review incidental positron emission tomography computed tomography findings in the head and neck region in lung carcinoma patients. A retrospective review was performed of all lung cancer patients who underwent positron emission tomography computed tomography imaging over a five-year period (January 2008 - December 2012), identified from the Liverpool thoracic multidisciplinary team database. Six hundred and nine patients underwent positron emission tomography computed tomography imaging over this period. In 76 (12.5 per cent) scans, incidental regions of avid 18F-fluoro-deoxy-glucose uptake were reported in the head and neck region. In the 28 patients who were fully investigated, there were 4 incidental findings of malignancy. In lung cancer patients undergoing investigative positron emission tomography computed tomography scanning, a significant number will also present with areas of clinically significant 18F-fluoro-deoxy-glucose uptake in the head and neck region. Of these, at least 5 per cent may have an undiagnosed malignancy.

  17. ORAL FINDINGS IN PATIENTS WITH APERT SYNDROME

    OpenAIRE

    Dalben, Gisele da Silva; Neves, Lucimara Teixeira das; Gomide, Marcia Ribeiro

    2006-01-01

    INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. OBJECTIVE: to investigate the oral find...

  18. Poland's syndrome: radiologic findings

    Energy Technology Data Exchange (ETDEWEB)

    Bazzi Junior, Joao Lourenco, E-mail: joaobazzijr@gmail.com [Clinica Via Imagem, Xanxere, SC (Brazil); Matta, Eduardo Simoes da [Pro Circulacao - Clinica de Angiologia, Cirurgia Vascular e Ecografia Vascular, Xanxere, SC (Brazil); De Bortoli, Luciano [Materclinica Materno Infantil, Xanxere, SC (Brazil); De Bortoli, Felipe Raasch [Universidade Catolica de Pelotas (UCPel), Pelotas, RS (Brazil). Fac. of Medicine

    2012-05-15

    Poland's syndrome is a rare non-inherited congenital anomaly. The authors describe the classic radiologic findings of Poland's syndrome by reporting the case of a male four-year old patient with asymmetry of hands and chest, illustrating the fundamental imaging criteria for a conclusive diagnosis. (author)

  19. Bouveret's syndrome: CT and ultrasonography findings

    International Nuclear Information System (INIS)

    Galant Herrero, J.; Ripolles Gonzalez, T.; Martinez Rodrigo, J.; Marti Bonmati, L.; Ferrer Puchol, M.D.

    1993-01-01

    Bouveret's syndrome is a very rare cause of obstruction of gastric emptying. It is produced by the migration of a biliary calculus through a cholecystogastric or cholecystoduodenal fistula. We present a case of cholecystogastric fistula associated with this syndrome, and the ultrasonographic and computerized tomography findings. Author (6 refs)

  20. Pancreatic neuroendocrine tumor - incidental finding during a follow-up CT for primary ovarian carcinoma

    International Nuclear Information System (INIS)

    Ivanova, D.; Balev, B.

    2013-01-01

    Pancreatic neuroendocrine tumors (PNET) are primary, usually we 11-differentiated pancreatic tumors. Their origin is not fully understood, but they are thought to develop from the pluripotent cells in the exocrine part of the pancreas. PNET are a heterogeneous group with different malignant potential. In some of the patients with sporadical forms of PNET there is association with other malignancies such as ovarian cancer, breast cancer, bladder and prostate cancers. We present a case of 50-year-old woman, with incidentally found pancreatic neoplasm, during a follow-up CT for ovarian cancer. Laparotomy and pancreatic biopsy are performed. Histological diagnosis confirms a well- differentiated endocrine tumor of the pancreas. (authors)

  1. Incidental finding of multiple well-differentiated papillary mesotheliomas in peritoneum

    DEFF Research Database (Denmark)

    Jakobsen, Mark; Engvad, Birte; Jensen, Thor

    2016-01-01

    We present a case of multiple well-differentiated papillary mesotheliomas (WDPM) in the peritoneum found incidentally in a 63-year-old man with urothelial carcinoma of the bladder. When multiple tumors are seen, malignant mesothelioma should be excluded by histopathological examination as this may...... have a similar focal appearance to WDPM. True stromal invasion is by far the most reliable criterion of mesothelial malignancy. In doubtful cases, a conservative diagnostic approach has been recommended. Compared to malignant mesotheliomas, WDPMs are rare and have a relatively indolent clinical course...

  2. Incidental finding of both cholecystoduodenal fistula and caecum carcinoma with MDCT imaging

    International Nuclear Information System (INIS)

    Groudeva, V.; Adam, G.; Malla Houech, I-V.; Davidkov, L.; Stoinova, V.

    2015-01-01

    Full text: Bouveret’s syndrome is a rare condition of gastric outlet obstruction, due to the impaction of gallstones in the duodenum. Most commonly it affects women and usually a history of cholelithiasis is present. We present the case of 86 years old female, with complaints of fullness, belching, acids, loss of appetite and weight for a few weeks. The examination revealed soft abdomen, painful palpation and a palpable movable mass in the right lower quadrant. The patient was referred to the imaging department for assessment of the finding. MDCT of the abdomen was carried out on 320 - row Aquillion ONE Toshiba machine, using contrast medium. The aim is to clarifying the accurate managing of the diagnosis of cholecystoduodenal fistula using MDCT. MDCT identified the presence of two independent from one another diseases, characterized by similar complaints. An enhancing mass with irregular borders in the caecal area was visualized. In addition presence of pneumobilia and a communication extending from the gallbladder to the duodenum and calculi in the latter were identified.The findings were consistent with cholecystoduodenal fistula. the patient underwent surgery, right hemicolectomy was performed together with duodenotomy and calculus extraction. Different conditions may present with overlapping symptoms and imaging diagnostic comes in help with the investigation. Since the condition of cholecystoduodenal fistula is associated with high risk of complications and death, it appeals to quick diagnosis and treatment. the use of MDCT in clinical practice as a non-invasive method allows precise identification of the signs of this disease

  3. MRI findings of Guillain-Barre syndrome

    International Nuclear Information System (INIS)

    Park, Won Kyu; Lee, Hwa Jin; Byun, Woo Mok

    1997-01-01

    To evaluate MRI findings of Guillain-Barre syndrome. In six patients with Guillain-Barre syndrome diagnosed by clinical, cerebrospinal fluid and electrophysiologic findings, a retrospective review of MR findings was conducted. Follow-up MRI scans were carried out in two patients showing minimal clinical improvement. Marked or moderate enhancement of thickened nerve roots was seen in all cases on gadopentetate dimeglumine enhanced axial T1-weighted images. Two patterns were seen; one was even enhancement of both anterior and posterior nerve roots (n=1) and the other was enhancement of anterior nerve roots only (n=5). Enhancement and thickness of nerve roots was seen to have slightly decreased on MRI follow-up at 32 and 50 days; clinical and electrophysiologic examination showed minimal improvement. Although MRI findings of nerve root enhancement are nonspecific and can be seen in neoplastic and other inflammatory diseases, the enhancement of thickened anterior nerve roots within the cal sac suggests Guillain-Barre syndrome

  4. MRI findings of Guillain-Barre syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Park, Won Kyu; Lee, Hwa Jin; Byun, Woo Mok [Yeungnam Univ. College of Medicine, Taegu (Korea, Republic of)

    1997-04-01

    To evaluate MRI findings of Guillain-Barre syndrome. In six patients with Guillain-Barre syndrome diagnosed by clinical, cerebrospinal fluid and electrophysiologic findings, a retrospective review of MR findings was conducted. Follow-up MRI scans were carried out in two patients showing minimal clinical improvement. Marked or moderate enhancement of thickened nerve roots was seen in all cases on gadopentetate dimeglumine enhanced axial T1-weighted images. Two patterns were seen; one was even enhancement of both anterior and posterior nerve roots (n=1) and the other was enhancement of anterior nerve roots only (n=5). Enhancement and thickness of nerve roots was seen to have slightly decreased on MRI follow-up at 32 and 50 days; clinical and electrophysiologic examination showed minimal improvement. Although MRI findings of nerve root enhancement are nonspecific and can be seen in neoplastic and other inflammatory diseases, the enhancement of thickened anterior nerve roots within the cal sac suggests Guillain-Barre syndrome.

  5. Incidental finding of arteria lusoria during transradial coronary catheterization: Significance in interventional cardiology.

    Science.gov (United States)

    Rafiq, Arsalan; Chutani, Surendra; Krim, Nassim R

    2017-12-08

    Arteria lusoria is the most common anomaly of the aortic arch with an incidence of 0.5%-2.5%. It is mostly diagnosed incidentally while performing imaging for evaluation of other unrelated medical conditions. The aberrant right subclavian artery arises beyond the origin of the left subclavian artery from the aortic arch. This results in a complex right-subclavian-aortic anatomy which leads to difficulty in transradial coronary angiography. This can lead to prolonged procedure time and increased use of catheters by unaware interventionists. This is even more important if this is encountered in the setting of an acute myocardial infarction. Our review takes into account clinical significance of this uncommon anomaly in the field of interventional cardiology. © 2017 Wiley Periodicals, Inc.

  6. Cystadenocarcinoma of the appendix: an incidental imaging finding in a patient with adenocarcinomas of the ascending and the sigmoid colon

    Directory of Open Access Journals (Sweden)

    Prassopoulos Panos

    2003-10-01

    Full Text Available Abstract Background Primary adenocarcinomas of the appendix are uncommon. Mucoceles that result from mucinous adenocarcinomas of the appendix may be incidentally detected on imaging. Case presentation A case of a mucocele of the appendix, due to cystadenocarcinoma, is presented as an incidental imaging finding in a female, 86-year-old patient. The patient was admitted due to rectal hemorrhage and underwent colonoscopy, x-ray, US and CT. Adenocarcinoma of the ascending colon, adenomatous polyp of the sigmoid colon and a cystic lesion in the right iliac fossa were diagnosed. The cystic lesion was characterized as mucocele. The patient underwent right hemicolectomy, excision of the mucocele and sigmoidectomy. She recovered well and in two-year follow-up is free from cancer. Conclusions Preoperative diagnosis of an underlying malignancy in a mucocele is important for patient management, but it is difficult on imaging studies. Small lymph nodes or soft tissue stranding in the surrounding fat on computed tomography examination may suggest the possibility of malignancy.

  7. Typical radiological findings in Mirizzi's syndrome

    International Nuclear Information System (INIS)

    Strunk, H.; Teifke, A.; Menke, H.

    1988-01-01

    In extrahepatic cholestasis it is necessary to include Mirizzi's syndrome in the differential diagnostic considerations. Characteristic findings in sonography and computed tomography ae: a stone incorporated in the neck of the gallbladder or cystic duct with an extension of the common hepatic duct above the stone and normal width of the bile duct below the sone; in endoscopic retrograde cholangiography (ERC, direkt cholangiography), a characteristic finding is a smooth-walled, segmental stenosis through external compression or an incorporated stone. (orig.) [de

  8. Bouveret's syndrome: CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Tueney, D.; Cimsit, C. [Dept. of Radiology, Marmara University Hospital, Istanbul (Turkey)

    2000-11-01

    Intestinal obstruction secondary to gallstones is seen in the older population and the level of obstruction is usually at the level of the terminal ileum. Obstruction at the level of the gastric outlet is called Bouveret's syndrome. A case with perforated cholecystitis and duodenal obstruction due to a gallstone is presented. The CT findings are presented along with the clinical findings and literature review. (orig.)

  9. Vertebral involvement in SAPHO syndrome: MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Nachtigal, A.; Cardinal, E.; Bureau, N.J. [Dept. of Radiology, Univ. de Montreal, QC (Canada); Sainte-Marie, L.G. [Dept. of Internal Medicine, Univ. de Montreal, QC (Canada); Milette, F. [Department of Pathology, Univ. de Montreal, QC (Canada)

    1999-03-01

    We report on the MRI findings in the vertebrae and surrounding soft tissues in two patients with the SAPHO syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis). The MRI findings include abnormal bone marrow signal, either focal or diffuse, of the vertebral bodies and posterior elements; hyperintense paravertebral soft tissue swelling and abnormal signal of the intervertebral discs. These changes are consistent with discitis and osteitis. (orig.) With 6 figs., 17 refs.

  10. Early ophthalmic findings in joubert syndrome

    Directory of Open Access Journals (Sweden)

    Amira A Abdelazeem

    2017-01-01

    Conclusion Association of these findings with an expanded clinical definition of Joubert is warranted. The clinical subtypes of JS may be associated with specific types of mutations in the causative genes. This report, which evaluates the findings in a relatively young cohort, provides a unique opportunity to consider the earliest manifestations of JS that may lead to early recognition and appropriate genetic testing to confirm the diagnosis. Clinical findings beyond those identified in this report and by prior publications should be evaluated as potentially independent of the primary genetic condition rather than assuming that each new finding is part of the same syndrome.

  11. Effect of Direct Marketing for Uterine Artery Embolization on Rates of Leiomyomas, Incidental Findings, and Management After Pelvic MRI.

    Science.gov (United States)

    Gurwara, Sheena; Allen, Brian C; Kouri, Brian; Clingan, M Jennings; Picard, Melissa; Leyendecker, John R

    2016-07-01

    The aim of this study was to determine whether a self-referred population screened by an interventional radiology (IR) clinic and a non-IR, physician-referred population differed with regard to suitability for uterine artery embolization (UAE) for symptomatic leiomyomas on the basis of preprocedure MRI. This was an institutional review board-approved, HIPAA-compliant retrospective study of 301 women evaluated in an IR clinic for possible UAE from January 2009 to September 2012. Subjects were retrospectively divided into two groups: self-referred via direct marketing (group A, n = 203; mean age, 41.8 years; range, 22-58 years) and physician referred (group B, n = 98; mean age, 42.9 years; range, 30-65 years). There was no significant difference between groups in presenting symptoms (multiple symptoms, bleeding, bulk-related symptoms, pain). After initial screening, 73.4% of group A (149 of 203) and 79.6% of group B (78 of 98) underwent MRI (P = .242). On the basis of MRI findings, 91.3% of group A (136 of 149) and 94.9% of group B (74 of 78) had uterine leiomyomas (P = .328). Adenomyosis without leiomyoma was present in 4.0% of group A (6 of 149) and 3.8% of group B (3 of 78) (P = .947). Incidental findings requiring further clinical or imaging evaluation were found in 20.8% of group A (31 of 149) and 24.4% of group B (19 of 78) (P = .539). After MRI, 41.6% of group A (62 of 149) and 48.7% of group B (38 of 78) proceeded to UAE (P = .306). After initial screening, similar proportions of self-referred and physician-referred patients were candidates for UAE. The rates of confirmed leiomyomas and incidental findings on MRI were similar between groups. Copyright © 2016 American College of Radiology. All rights reserved.

  12. High rates of clinically relevant incidental findings by total-body CT scanning in trauma patients; results of the REACT-2 trial

    Energy Technology Data Exchange (ETDEWEB)

    Treskes, K.; Bos, S.A.; Sierink, J.C.; Luitse, J.S.K.; Goslings, J.C. [Academic Medical Center, Trauma Unit, Department of Surgery, Amsterdam (Netherlands); Beenen, L.F.M. [Academic Medical Center, Department of Radiology, Amsterdam (Netherlands); Edwards, M.J.R. [Radboud University Medical Center, Department of Trauma and emergency surgery, Nijmegen (Netherlands); Beuker, B.J.A. [University Medical Center Groningen, Trauma Unit, Department of Surgery, Groningen (Netherlands); Muradin, G.S.R. [University Medical Center Rotterdam, Department of Radiology, Erasmus MC, Rotterdam (Netherlands); Hohmann, J. [University of Basel Hospital, Department of Radiology and Nuclear Medicine, Basel (Switzerland); Hollmann, M.W. [Academic Medical Center, Department of Anaesthesiology, Amsterdam (Netherlands); Dijkgraaf, M.G.W. [Academic Medical Center, Clinical Research Unit, Amsterdam (Netherlands); Collaboration: REACT-2 study group

    2017-06-15

    To determine whether there is a difference in frequency and clinical relevance of incidental findings detected by total-body computed tomography scanning (TBCT) compared to those by the standard work-up (STWU) with selective computed tomography (CT) scanning. Trauma patients from five trauma centres were randomized between April 2011 and January 2014 to TBCT imaging or STWU consisting of conventional imaging with selective CT scanning. Incidental findings were divided into three categories: 1) major finding, may cause mortality; 2) moderate finding, may cause morbidity; and 3) minor finding, hardly relevant. Generalized estimating equations were applied to assess differences in incidental findings. In total, 1083 patients were enrolled, of which 541 patients (49.9 %) were randomized for TBCT and 542 patients (50.1 %) for STWU. Major findings were detected in 23 patients (4.3 %) in the TBCT group compared to 9 patients (1.7 %) in the STWU group (adjusted rate ratio 2.851; 95%CI 1.337-6.077; p < 0.007). Findings of moderate relevance were detected in 120 patients (22.2 %) in the TBCT group compared to 86 patients (15.9 %) in the STWU group (adjusted rate ratio 1.421; 95%CI 1.088-1.854; p < 0.010). Compared to selective CT scanning, more patients with clinically relevant incidental findings can be expected by TBCT scanning. (orig.)

  13. CT and MRI findings of Madelung syndrome

    International Nuclear Information System (INIS)

    Liu Changhua; Zeng Yinglang; Zou Donglu; Wu Guihua

    2011-01-01

    Objective: To determine the CT and MR findings of Madelung syndrome. Methods: Five cases of Madelung syndrome were collected in our hospital from February 2006 to June 2009, including 3 cases of type Ⅰ Madelung syndrome and 2 cases of type Ⅱ Madelung syndrome. The 5 cases were all examined by CT, meanwhile 1 case by CT enhancement scanning and 2 cases by MR. The clinical characteristics and imaging manifestations were analyzed. Results: CT and MR images in 3 patients of type Ⅰ Madelung syndrome displayed fat accumulation within the subcutaneous tissue of the upper trunk and deep layer tissue of neck. The diffuse masses were located around the neck, upper chest and shoulders, which were called 'horse collar' and 'buffalo hump'. The other 2 cases of type Ⅱ Madelung syndrome displayed fat thickening within the subcutaneous tissue of the proximal extremities, anterior chest wall, showing special appearance of 'vigorous sailor'. All the 5 patients showed fat deposit within the subcutaneous tissue of the anterior rectus abdominis, inguina and fat accumulation within the scrotum. CT showed proliferated fat at the subcutaneous tissue of the involved regions. The CT value of proliferated fat were between - 30 and -70 HU. The proliferated fat tissue all could be displayed on MR T 1 WI, T 2 WI and T 2 WI fat suppression sequence, with typical hypointensity on T 1 WI and hyperintensity on T 2 WI, hypointensity on fat-suppression sequence and fibrous septation presenting among fat tissue. Conclusion: Combination with the history of long-term alcohol abuse, the Madelung syndrome could be diagnosed by CT and MR, which had great value in the surgical planning for identifying the extent of disease. (authors)

  14. Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing.

    Science.gov (United States)

    Evans, Barbara J

    2013-12-01

    Recent recommendations by the American College of Medical Genetics and Genomics (ACMG) for reporting incidental findings present novel ethical and legal issues. This article expresses no views on the ethical aspects of these recommendations and focuses strictly on liability risks and how to minimize them. The recommendations place labs and clinicians in a new liability environment that exposes them to intentional tort lawsuits as well to traditional suits for negligence. Intentional tort suits are especially troubling because of their potential to inflict ruinous personal financial losses on individual clinicians and laboratory personnel. This article surveys this new liability landscape and describes analytical approaches for minimizing tort liabilities. To a considerable degree, liability risks can be controlled by structuring activities in ways that make future lawsuits nonviable before the suits ever arise. Proactive liability analysis is an effective tool for minimizing tort liabilities in connection with the testing and reporting activities that the ACMG recommends.

  15. Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECT/CT: A case report and literature review.

    Science.gov (United States)

    Tsai, Szu-Ying; Wang, Shan-Ying; Shiau, Yu-Chien; Wu, Yen-Wen

    2016-06-01

    Osteopoikilosis is a benign but rare condition characterized by bone islands throughout the osseous tissue, which could be easily confused with bone metastasis. We present a case of a 37-year-old man presented to orthopedic outpatient clinic with right hip pain for 2 weeks. There were multiple, small punctate lesions scattered throughout the skeleton on radiograph. Subsequent Tc-99m methylene diphosphonate (MDP) bone scan with pelvic single-photon emission computed tomography (SPECT)/computed tomography (CT) showed multiple enostoses without abnormal focal MDP uptake. Therefore, clinical diagnosis was compatible with osteopoikilosis while bone metastasis was unlikely. The symptoms then improved by conservative treatments. Osteopoikilosis is usually an incidental finding on radiograph or CT, and a normal MDP confirmed the diagnosis by excluding bone metastasis. It is important for clinicians to recognize the specific image features to prevent further unnecessary interventions. In addition, bone SPECT/CT could also make the diagnosis in one step.

  16. Incidental finding of an extensive oropharyngeal mass in magnetic resonance imaging of a patient with temporomandibular disorder: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Omolehinwa, Temitope T.; Mupparapu, Mel; Akintoye, SundayO. [Dept. of Oral Medicine, School of Dental Medicine, University of Pennsylvania, Philadelphia (United States)

    2016-12-15

    In this report, we describe the incidental finding of an oropharyngeal mass in a patient who presented with a chief complaint of temporomandibular pain. The patient was initially evaluated by an otorhinolaryngologist for complaints of headaches, earache, and sinus congestion. Due to worsening headaches and trismus, he was further referred for the management of temporomandibular disorder. The clinical evaluation was uneventful except for limited mouth opening (trismus). An advanced radiological evaluation using magnetic resonance imaging revealed a mass in the nasopharyngeal/oropharyngeal region. The mass occupied the masticatory space and extended superioinferiorly from the skull base to the mandible. A diagnostic biopsy of the lesion revealed a long-standing human papilloma virus (HPV-16)-positive squamous cell carcinoma of the oropharynx. This case illustrates the need for the timely radiological evaluation of seemingly innocuous orofacial pain.

  17. Incidental finding of an extensive oropharyngeal mass in magnetic resonance imaging of a patient with temporomandibular disorder: A case report

    International Nuclear Information System (INIS)

    Omolehinwa, Temitope T.; Mupparapu, Mel; Akintoye, SundayO.

    2016-01-01

    In this report, we describe the incidental finding of an oropharyngeal mass in a patient who presented with a chief complaint of temporomandibular pain. The patient was initially evaluated by an otorhinolaryngologist for complaints of headaches, earache, and sinus congestion. Due to worsening headaches and trismus, he was further referred for the management of temporomandibular disorder. The clinical evaluation was uneventful except for limited mouth opening (trismus). An advanced radiological evaluation using magnetic resonance imaging revealed a mass in the nasopharyngeal/oropharyngeal region. The mass occupied the masticatory space and extended superioinferiorly from the skull base to the mandible. A diagnostic biopsy of the lesion revealed a long-standing human papilloma virus (HPV-16)-positive squamous cell carcinoma of the oropharynx. This case illustrates the need for the timely radiological evaluation of seemingly innocuous orofacial pain

  18. Simple radiographic finding of subacromial impingement syndrome

    International Nuclear Information System (INIS)

    Joo, Sang Shin; Song, In Sub; Lee, Kyung Hyo; Kim, Yang Soo; Kim, Kun Sang; Lee, Yong Chul; Chun, Jae Myung

    1995-01-01

    We evaluated both the patients and the normal volunteers to determine the diagnostic criteria of subacromial impingement syndrome. We analyzed the radiologic finding of Thirty degree of caudal tilt view (TCTV) and Supraspinatus outlet view (SOV) of 100 shoulders from 85 patients with clinically proved subacromial impingement syndrome and normal 100 shoulders from 60 volunteers. In TCTV, the protrusion of acromion below the line of extension from inferior surface of clavicle was shown in 94% of the patient group and 48% in normal group. Sharp tip of acromial protrusion was detectable in 55.3% of the patient group and 10.4% in normal group. In SOV, curved type of acromion was seen in 53% of the normal and 50% in patient group. Hooked type of acromion was detected in 3% and 31% of the normal and patient group, respectively. Protrusion of acromion at TCTV itself was not a criteria of subacromial impingement syndrome, but more than 7 mm below the line of extension from inferior surface of clavicle was meanigful. In SOV, hooked type of acromion was a criteria of subacromial impingement syndrome but curved type is was not a finding of diagnostic significance

  19. Ethical framework for the detection, management and communication of incidental findings in imaging studies, building on an interview study of researchers’ practices and perspectives

    NARCIS (Netherlands)

    E.M. Bunnik (Eline); L. Van Bodegom (Lisa); W. Pinxten (Wim); I.D. de Beaufort (Inez); M.W. Vernooij (Meike)

    2017-01-01

    textabstractBackground: As thousands of healthy research participants are being included in small and large imaging studies, it is essential that dilemmas raised by the detection of incidental findings are adequately handled. Current ethical guidance indicates that pathways for dealing with

  20. Cardiac Findings in Congenital Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Shamsi Ghaffari

    2011-08-01

    Full Text Available Introduction: Congenital nephrotic syndrome is a severe debilitating problem associated with extra renal manifestation such as diverse cardiac findings. Methods: During four years 6 cases diagnosed as congenital nephritic syndrome in base of definitive criteria their documents reviewed and echocardiographic evaluation has been done for all with or with-out cardiac sign or symptoms, results gathered and expressed as incidence. Results: All cases have some grades of structural or functional defects from simple form like as tricus-pid regurgitation to complex defects. It may be run in consecutively in siblings of a family from non consanguine parents. Conclusion: Pulmonary stenosis may occur in all parts subvalvualr, valvular and peripheral parts of pulmonary artery, left ventricular hypertrophy and mitral regurgitation observed in some, moderate tricuspid regurgitation observed in half of cases due to pulmonary hypertension or right ventricular hypertrophy due to pulmonary stenosis.

  1. Cardiac Findings in Congenital Nephrotic Syndrome

    Science.gov (United States)

    Malaki, Majid; Ghaffari, Shamsi; Ghaffari, Samad; Rastkar, Bahaman; Goldust, Mohammad; Malaki, Pouya; Sahar, Behnam

    2011-01-01

    Introduction Congenital nephrotic syndrome is a severe debilitating problem associated with extra renal manifestation such as diverse cardiac findings. Methods During four years, 6 cases diagnosed as congenital nephritic syndrome in base of definitive criteria their documents reviewed and echocardiographic evaluation has been done for all with or without cardiac sign or symptoms, results gathered and expressed as incidence. Results All cases have some grades of structural or functional defects from simple form like as tricuspid regurgitation to complex defects. It may be run in consecutively in siblings of a family from non consanguine parents. Conclusion Pulmonary stenosis may occur in all parts subvalvualr, valvular and peripheral parts of pulmonary artery, left ventricular hypertrophy and mitral regurgitation observed in some, moderate tricuspid regurgitation observed in half of cases due to pulmonary hypertension or right ventricular hypertrophy due to pulmonary stenosis. PMID:24250960

  2. Dental findings in children with West syndrome.

    Science.gov (United States)

    Dantas-Neta, Neusa Barros; Carvalho e Souza, Carlos Henriquede; Mendes Alencar, Suyá Moura; Prado Júnior, Raimundo Rosendo; Mendes, Regina Ferraz

    2014-01-01

    West syndrome (WS) is a rare age-related syndrome of epilepsy. The oral manifestations of WS are still unknown. To assess the oral health status and oral findings of a sample of WS children being treated at a specialized referral center. The dental record forms of 528 children were searched at this center. Eight of the children had been diagnosed with WS. The ages of those with WS ranged from 6 months to 13 years, and 62% of them were male. All of them were taking antiepileptic medication. Twenty-five percent of them had tongue interposition between the dental arches and a deep palate. The mean DMFT was .25 and dmft was 1.12. Patients with WS seem to have low caries experience, can have a deep palate, and may have their tongue positioned between the arches or on the incisive papilla. © 2014 Special Care Dentistry Association and Wiley Periodicals, Inc.

  3. Prenatal Sonographic Findings of Polysplenic Syndrome

    International Nuclear Information System (INIS)

    Yoo, Jeong Hyun; Suh, Jeong Soo; Lee, Young Ho

    2004-01-01

    We report 6 cases of polysplenic syndrome diagnosed on prenatal sonography. The mean menstrual age at the time of presentation was 275 weeks (range 184 to 38 weeks). All cases were examined using level-II prenatal sonography. The sonographic findings of polysplenic syndrome were retrograde analyzed and compared to the autopsy or postnatal findings. Polysplenia was detected in 5 cases on the prenatal sonography. Associated cardiovascular anomalies were detected in all 6 cases, all of which had more than one anomaly, namely complete atrioventricular septal defect in two cases, double outlet right ventricle combined with rudimentary LV or mitral atresia in two cases and VSD and ASD in one case each. There were three cases of interrupted IVC with azygous continuation of the posterior thorax. Bradycardia was observed in 2 cases, one of which showed AV dissociation of rhythm. Visceral abnormalities were present in all cases and there were combined anomalies such as echogenic bowel, pelviectasia, horseshoe kidney, and posterior neck cystic hygroma and fetal hydrops. Four cases terminated pregnancy. The autopsy results of 2 cases were comparable to those of the prenatal sonography, however autopsies were not performed in 2 cases. One fetus near term was delivered and the baby subsequently underwent heart surgery and was still alive at the last follow-up. The remaining one case was lost to follow-up. If multiple fetal anomalies, including complex heart disease and polysplenia, are detected in the prenatal sonography, a diagnosis of polysplenic syndrome can be made. IVC interruption with azygous continuation can also be helpful in the diagnosis of polysplenic syndrome, and this can be observed by detecting the double vessel of the posterior thorax

  4. Echocardiographic versus histologic findings in Marfan syndrome.

    Science.gov (United States)

    Gu, Xiaoyan; He, Yihua; Li, Zhian; Han, Jiancheng; Chen, Jian; Nixon, J V Ian

    2015-02-01

    This retrospective study attempted to establish the prevalence of multiple-valve involvement in Marfan syndrome and to compare echocardiographic with histopathologic findings in Marfan patients undergoing valvular or aortic surgery. We reviewed echocardiograms of 73 Marfan patients who underwent cardiovascular surgery from January 2004 through October 2009. Tissue histology was available for comparison in 29 patients. Among the 73 patients, 66 underwent aortic valve replacement or the Bentall procedure. Histologic findings were available in 29 patients, all of whom had myxomatous degeneration. Of 63 patients with moderate or severe aortic regurgitation as determined by echocardiography, 4 had thickened aortic valves. The echocardiographic findings in 18 patients with mitral involvement included mitral prolapse in 15. Of 11 patients with moderate or severe mitral regurgitation as determined by echocardiography, 4 underwent mitral valve repair and 7 mitral valve replacement. Histologic findings among mitral valve replacement patients showed thickened valve tissue and myxomatous degeneration. Tricuspid involvement was seen echocardiographically in 8 patients, all of whom had tricuspid prolapse. Two patients had severe tricuspid regurgitation, and both underwent repair. Both mitral and tricuspid involvement were seen echocardiographically in 7 patients. Among the 73 patients undergoing cardiac surgery for Marfan syndrome, 66 had moderate or severe aortic regurgitation, although their valves manifested few histologic changes. Eighteen patients had mitral involvement (moderate or severe mitral regurgitation, prolapse, or both), and 8 had tricuspid involvement. Mitral valves were most frequently found to have histologic changes, but the tricuspid valve was invariably involved.

  5. Non-traumatic incidental findings in patients undergoing whole-body computed tomography at initial emergency admission.

    Science.gov (United States)

    Kroczek, Eduard K; Wieners, Gero; Steffen, Ingo; Lindner, Tobias; Streitparth, Florian; Hamm, Bernd; Maurer, Martin H

    2017-10-01

    To evaluate the number, localisation and importance of non-traumatic incidental findings (IFs) in patients with suspected or obvious multiple trauma undergoing whole-body CT (WBCT) in a level-1 trauma centre. Between January 2009 and December 2013, a total of 2440 patients with trauma undergoing WBCT at admission to a level-1 trauma centre of a university hospital were retrospectively analysed, through imaging IFs unrelated to trauma with the radiological reports. All IFs were grouped into four categories according to their clinical relevance. Category 1: urgent treatment or further clarification needed; category 2: further examination and follow-up within 3-6 months required; category 3: findings with no immediate consequences for the treatment of the patient but of potential relevance in the future; category 4: harmless findings. Altogether, 5440 IFs in 2440 patients (1735 male, 705 female; mean age 45.1 years) were documented. In 204 patients (8.4%) urgent category 1 findings were reported, 766 patients (31.4%) had category 2 findings, 1236 patients (50.7%) had category 3 findings and 1173 patients (48.1%) had category 4 findings. Most IFs were detected in the abdomen/pelvis (42.5%). 602 (24.7%) of the patients had no IFs. WBCT scans of unrelated trauma patients demonstrate a high rate of IF. A substantial percentage (8.4%) of patients had urgent category 1IFs and a high percentage (31.4%) had category 2 IFs requiring a follow-up. This high number of patients with polytrauma undergoing WBCT, having IFs of high relevance, poses a major challenge for the level-1 trauma centre in the acute and postacute management of these patients. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  6. Incidental findings on cone beam computed tomography scans in cleft lip and palate patients

    NARCIS (Netherlands)

    Kuijpers, M.A.R.; Pazera, A.; Admiraal, R.J.C.; Berge, S.J.; Vissink, A.; Pazera, P.

    2014-01-01

    OBJECTIVES: Cone beam computed tomography (CBCT) is frequently used in treatment planning for alveolar bone grafting (ABG) and orthognathic surgery in patients with cleft lip and palate (CLP). CBCT images may depict coincident findings. The aim of this study was to assess the prevalence of

  7. Ultrasonographic findings of posterior interosseous nerve syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kim, You Dong; Ha, Doo Hoe; Lee, Sang Min [Dept. of Radiology, CHA Bundang Medical Center, CHA University, Seongnam (Korea, Republic of)

    2017-10-15

    The purpose of this study was to evaluate the ultrasonographic findings associated with posterior interosseous nerve (PIN) syndrome. Approval from the Institutional Review Board was obtained. A retrospective review of 908 patients' sonographic images of the upper extremity from January 2001 to October 2010 revealed 10 patients suspicious for a PIN abnormality (7 male and 3 female patients; mean age of 51.8±13.1 years; age range, 32 to 79 years). The ultrasonographic findings of PIN syndrome, including changes in the PIN and adjacent secondary changes, were evaluated. The anteroposterior diameter of the pathologic PIN was measured in eight patients and the anteroposterior diameter of the contralateral asymptomatic PIN was measured in six patients, all at the level immediately proximal to the proximal supinator border. The size of the pathologic nerves and contralateral asymptomatic nerves was compared using the Mann-Whitney U test. Swelling of the PIN proximal to the supinator canal by compression at the arcade of Fröhse was observed in four cases. Swelling of the PIN distal to the supinator canal was observed in one case. Loss of the perineural fat plane in the supinator canal was observed in one case. Four soft tissue masses were noted. Secondary denervation atrophy of the supinator and extensor muscles was observed in two cases. The mean anteroposterior diameter of the pathologic nerves (n=8, 1.79±0.43 mm) was significantly larger than that of the contralateral asymptomatic nerves (n=6, 1.02±0.22 mm) (P=0.003). Ultrasonography provides high-resolution images of the PIN and helps to diagnose PIN syndrome through visualization of its various causes and adjacent secondary changes.

  8. [Incidental findings in cardiology. Diagnosing today what can cause illness tomorrow].

    Science.gov (United States)

    Castrucci, M; Seifert, T; Breithardt, G

    2000-10-26

    Among the anatomical and functional findings in cardiology, congenitally corrected transposition of the major vessels (ventricular inversion), bicuspid aortic valve and prolapse of the mitral valve with simultaneous mitral insufficiency have at least a potential for causing future problems. In such cases, regular cardiological checks or a further diagnostic work-up is to be recommended. The assessment of cardiac sounds can usually be correctly interpreted on the basis of the history, physical examination and auscultation. Among the electrocardiological findings, complete left bundle-branch block and prolongation of the QT segment, mandate clarification of a structural heart condition. Furthermore, in the event of ventricular extrasystoles, right-ventricular cardiomyopathy needs to be excluded. Such isolated conduction disorders as left-anterior fascicular block or right bundle-branch block are of no prognostic significance.

  9. Ethical framework for the detection, management and communication of incidental findings in imaging studies, building on an interview study of researchers' practices and perspectives.

    Science.gov (United States)

    Bunnik, Eline M; van Bodegom, Lisa; Pinxten, Wim; de Beaufort, Inez D; Vernooij, Meike W

    2017-02-06

    As thousands of healthy research participants are being included in small and large imaging studies, it is essential that dilemmas raised by the detection of incidental findings are adequately handled. Current ethical guidance indicates that pathways for dealing with incidental findings should be in place, but does not specify what such pathways should look like. Building on an interview study of researchers' practices and perspectives, we identified key considerations for the set-up of pathways for the detection, management and communication of incidental findings in imaging research. We conducted an interview study with a purposive sample of researchers (n = 20) at research facilities across the Netherlands. Based on a qualitative analysis of these interviews and on existing guidelines found in the literature, we developed a prototype ethical framework, which was critically assessed and fine-tuned during a two-day international expert meeting with bioethicists and representatives from large population-based imaging studies from the United Kingdom, Germany, Sweden and Belgium (n = 14). Practices and policies for the handling of incidental findings vary strongly across the Netherlands, ranging from no review of research scans and limited feedback to research participants, to routine review of scans and the arrangement of clinical follow-up. Respondents felt that researchers do not have a duty to actively look for incidental findings, but they do have a duty to act on findings, when detected. The principle of reciprocity featured prominently in our interviews and expert meeting. We present an ethical framework that may guide researchers and research ethics committees in the design and/or evaluation of appropriate pathways for the handling of incidental findings in imaging studies. The framework consists of seven steps: anticipation of findings, information provision and informed consent, scan acquisition, review of scans, consultation on detected

  10. MR findings in iliotibial band syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, G.; Yamato, M. [Department of Radiology, Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu, Shimotsuga-gun, Tochigi-ken 321-02 (Japan); Tamai, K. [Department of Orthopedic Surgery, Dokkyo University School of Medicine, Tochigi-ken (Japan); Takahashi, J. [Department of Orthopedic Surgery, Shimizu Municipal Hospital, Shimizu (Japan); Uetani, M. [Department of Radiology, Nagasaki University School of Medicine, Nagasaki (Japan)

    1997-09-01

    Objective. To elucidate the MR findings in iliotibial band (ITB) syndrome. Design and patients. The subjects comprised four patients (five knees) with lateral knee pain: two athletes and two non-athletes. One non-athlete was engaged in work requiring repetitive knee movement, and the other suffered from Cushing syndrome and had bilateral abnormalities. All patients were suspected of having a lateral meniscal tear prior to MR examination, but physical examination following provisional MR diagnosis warranted the final diagnosis. MR studies included fast spin echo sagittal imaging, fat-saturated fast spin echo proton density coronal imaging, and T2* radial imaging. Twelve normal volunteers were examined. Results and conclusion. Fat-saturated coronal imaging demonstrated an ill-defined, high-intensity area deep to the ITB. T2* radial imaging showed an identical, but less conspicuous, abnormality. The MR finding suggested soft tissue inflammation and/or edema rather than focal fluid collection in the bursae. The signal alteration predominated in the region beneath the posterior fibers of the ITB, thus supporting the current opinion that the posterior fibers of the ITB are tighter against the lateral femoral epicondyle than the anterior fibers. The ITB itself did not show any signal alteration or increased thickness. (orig.). With 4 figs., 1 tab.

  11. Research cardiac magnetic resonance imaging in end stage renal disease - incidence, significance and implications of unexpected incidental findings

    Energy Technology Data Exchange (ETDEWEB)

    Rutherford, Elaine; Weir-McCall, Jonathan R.; Houston, J.G.; Struthers, Allan D. [Ninewells Hospital, Division of Cardiovascular and Diabetes Medicine, Dundee (United Kingdom); Patel, Rajan K.; Jardine, Alan G.; Mark, Patrick B. [Institute of Cardiovascular and Medical Sciences, Glasgow (United Kingdom); Roditi, Giles [NHS Greater Glasgow and Clyde, Department of Radiology, Glasgow Royal Infirmary, Glasgow (United Kingdom)

    2017-01-15

    Left ventricular mass (LVM) at cardiac magnetic resonance imaging (CMR) is a frequent end point in clinical trials in nephrology. Trial participants with end stage renal disease (ESRD) may have a greater frequency of incidental findings (IF). We retrospectively investigated prevalence of IF in previous research CMR and reviewed their subsequent impact on participants. Between 2002 and 2006, 161 ESRD patients underwent CMR in a transplant assessment study. Images were used to assess LV mass and function. In the current study a radiologist reviewed the scans for IF. Review of patient records determined the subsequent clinical significance of IF. There were 150 IF in 95 study participants. Eighty-four (56 %) were new diagnoses. One hundred and two were non-cardiac. Fifteen were suspicious of malignancy. There was a clinically significant IF for 14.9 % of the participants. In six cases earlier identification of an IF may have improved quality of life or survival. Without radiology support clinically important IF may be missed on CMR. Patients undergoing CMR in trials should be counselled about the frequency and implications of IF. Patients with ESRD have a higher prevalence of IF than reported in other populations. Nephrology studies require mechanisms for radiologist reporting and strategies for dealing with IF. (orig.)

  12. Primary hydatid disease of the femur: unsuspected and incidental MRI findings with long-term curative results on medical treatment alone

    International Nuclear Information System (INIS)

    Poyanli, A.; Sencer, S.; Akan, K.; Poyanli, O.; Sayrak, H.

    2001-01-01

    This report describes the early magnetic resonance imaging (MRI) findings and long-term follow-up results of albendazole treatment in a 16-year-old girl with primary hydatid disease of the femur diagnosed incidentally during the course of a post-traumatic knee infection. As far as we know, this is the first report of the early MRI findings and long-term outcome of medical treatment in primary hydatid disease of the femur in this age group. (orig.)

  13. Intracranial haemorrhage: an incidental finding at magnetic resonance imaging in a cohort of late preterm and term infants

    Energy Technology Data Exchange (ETDEWEB)

    Sirgiovanni, Ida; Groppo, Michela; Bassi, Laura; Passera, Sofia; Schiavolin, Paola; Fumagalli, Monica; Mosca, Fabio [Universita degli Studi di Milano, Neonatal Intensive Care Unit, Department of Clinical Science and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan (Italy); Avignone, Sabrina; Cinnante, Claudia; Triulzi, Fabio [Universita degli Studi di Milano, Department of Neuroradiology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan (Italy); Lista, Gianluca [V. Buzzi Children' s Hospital, ICP, Neonatal Intensive Care Unit, Milan (Italy)

    2014-03-15

    Intracranial haemorrhage (ICH) in term newborns has been increasingly recognised but the occurrence in late preterm infants and the clinical presentation are still unclear. To investigate the appearance of intracranial haemorrhage at MRI in a cohort of infants born at 34 weeks' gestation or more and to correlate MRI findings with neonatal symptoms. We retrospectively reviewed neonatal brain MRI scans performed during a 3-year period. We included neonates ≥34 weeks' gestation with intracranial haemorrhage and compared findings with those in babies without intracranial haemorrhage. Babies were classified into three groups according to haemorrhage location: (1) infratentorial, (2) infra- and supratentorial, (3) infra- and supratentorial + parenchymal involvement. Intracranial haemorrhage was observed in 36/240 babies (15%). All of these 36 had subdural haemorrhage. Sixteen babies were included in group 1; 16 in group 2; 4 in group 3. All infants in groups 1 and 2 were asymptomatic except one who was affected by intraventricular haemorrhage grade 3. Among the infants in group 3, who had intracranial haemorrhage with parenchymal involvement, three of the four (75%) presented with acute neurological symptoms. Uncomplicated spontaneous vaginal delivery was reported in 20/36 neonates (56%), vacuum extraction in 4 (11%) and caesarean section in 12 (33%). Babies with intracranial haemorrhage had significantly higher gestational age (38 ± 2 weeks vs. 37 ± 2 weeks) and birth weight (3,097 ± 485 g vs. 2,803 ± 741 g) compared to babies without intracranial haemorrhage and were more likely to be delivered vaginally than by caesarian section. Mild intracranial haemorrhage (groups 1 and 2) is relatively common in late preterm and term infants, although it mostly represents an incidental finding in clinically asymptomatic babies; early neurological symptoms appear to be related to parenchymal involvement. (orig.)

  14. Intracranial haemorrhage: an incidental finding at magnetic resonance imaging in a cohort of late preterm and term infants

    International Nuclear Information System (INIS)

    Sirgiovanni, Ida; Groppo, Michela; Bassi, Laura; Passera, Sofia; Schiavolin, Paola; Fumagalli, Monica; Mosca, Fabio; Avignone, Sabrina; Cinnante, Claudia; Triulzi, Fabio; Lista, Gianluca

    2014-01-01

    Intracranial haemorrhage (ICH) in term newborns has been increasingly recognised but the occurrence in late preterm infants and the clinical presentation are still unclear. To investigate the appearance of intracranial haemorrhage at MRI in a cohort of infants born at 34 weeks' gestation or more and to correlate MRI findings with neonatal symptoms. We retrospectively reviewed neonatal brain MRI scans performed during a 3-year period. We included neonates ≥34 weeks' gestation with intracranial haemorrhage and compared findings with those in babies without intracranial haemorrhage. Babies were classified into three groups according to haemorrhage location: (1) infratentorial, (2) infra- and supratentorial, (3) infra- and supratentorial + parenchymal involvement. Intracranial haemorrhage was observed in 36/240 babies (15%). All of these 36 had subdural haemorrhage. Sixteen babies were included in group 1; 16 in group 2; 4 in group 3. All infants in groups 1 and 2 were asymptomatic except one who was affected by intraventricular haemorrhage grade 3. Among the infants in group 3, who had intracranial haemorrhage with parenchymal involvement, three of the four (75%) presented with acute neurological symptoms. Uncomplicated spontaneous vaginal delivery was reported in 20/36 neonates (56%), vacuum extraction in 4 (11%) and caesarean section in 12 (33%). Babies with intracranial haemorrhage had significantly higher gestational age (38 ± 2 weeks vs. 37 ± 2 weeks) and birth weight (3,097 ± 485 g vs. 2,803 ± 741 g) compared to babies without intracranial haemorrhage and were more likely to be delivered vaginally than by caesarian section. Mild intracranial haemorrhage (groups 1 and 2) is relatively common in late preterm and term infants, although it mostly represents an incidental finding in clinically asymptomatic babies; early neurological symptoms appear to be related to parenchymal involvement. (orig.)

  15. Enterobius vermicularis in tubo-ovarian abscess: A rare and interesting incidental finding - A case Report.

    Science.gov (United States)

    Saleem, Faryal; Malik, Faizan; Fatima, Saira

    2017-04-01

    Enterobius vermicularis is a common intestinal nematode; however, rare extraintestinal Enterobius infections have been reported from different parts of the world. Here, we present a case of tubo-ovarian abscess in an otherwise healthy young sexually active female with no known comorbids with history of on and off lower abdominal pain for one year and high grade fever for one month. On the basis of further workup and radiological evaluation, a preoperative diagnosis of right sided tubo-ovarian abscess was made and salpingo-oophorectomy was performed laproscopically in July 2015. Histopathology of the resected tissue revealed necrosis and in one area Enterobius vermicularis was identified surrounded by neutrophils and eosinophil rich abscess. A final diagnosis of severe acute and chronic salpingo-oophoritis with abscess formation, secondary to Enterobius vermicularis was made. Signs and symptoms of parasitic involvement in tubo-ovarian abscesses are not much different than usual presentations of pelvic inflammatory diseases and identification of a parasite in a tubo-ovarian tissue sample is a rare clinical finding. A high index of suspicion on the part of histopathologist as well as clinician is important for timely diagnosis and effective management of such cases.

  16. Nine cases of nonpalpable testicular mass. An incidental finding in a large scale ultrasonography survey

    International Nuclear Information System (INIS)

    Avci, A.; Eken, C.; Ozgok, Y.; Erol, B.

    2008-01-01

    Nonpalpable testicular masses are usually diagnosed during routine ultrasonography (US) examinations for other conditions. There are conflicting results on the final diagnosis and management of these lesions. In the present study we report the results of a large US series of 5104 patients on nonpalpable testicular masses and discuss the management of these patients. This retrospective observational study was performed in a secondary care military hospital. A total of 5104 patients underwent a US and 11 of them were diagnosed as having a nonpalpable testicular mass. These 11 patients also underwent magnetic resonance imaging (MRI). Two of them refused surgery and were excluded from the study. The remaining nine patients underwent intraoperative US-guided localization and excisional biopsy of the non-palpable testicular parenchymal mass. A radical orchiectomy was required in all of them. US and MRI findings, frozen and final pathology results were recorded. The median age of study subjects was 24 years. The final pathology revealed a malign tumor in eight patients and an inflammatory mass in one patient. There were inconsistent results in four patients between frozen section analysis and final pathology. MRI improved the definition of the solid masses in all patients. MRI enhances the certainty of the diagnosis of malignity in nonpalpable testicular masses, particularly in conditions that generally can not be diagnosed with ultrasonography alone. Frozen section analysis is not an accredited method in diagnosing malign lesions in non-palpable testicular masses. (author)

  17. Mitral annulus caseous calcification mimicking cardiac mass in asymptomatic patient – multimodality imaging approach to incidental echocardiographic finding

    International Nuclear Information System (INIS)

    Możeńska, Olga; Sypuła, Sławomir; Celińska-Spoder, Małgorzata; Walecki, Jerzy; Kosior, Dariusz A.

    2014-01-01

    Caseous calcification of mitral annulus is rather rare echocardiographic finding with prevalence of 0.6% in pts. with proven mitral annular calcification and 0.06% to 0.07% in large series of subjects in all ages. Echocardiographic images of caseous calcification are often heterogenous due to calcium and lipid deposits, and the masses show hyperechogenic and hypoechogenic areas. However the appearance of caseous calcification can imitate that of abscess, tumors and cysts, surgical treatment may not be needed when there is no obstruction. 76-year old obese (BMI 32 kg/m 2 ), female patient with history of hypertension, stable coronary artery disease, diabetes type 2 and hyperlipidemia presented with no symptoms of mitral valve dysfunction and had no abnormalities on physical exam. Transesophageal echocardiography identified well-organized, composite, immobile lesion (22×15 mm) localized in the posterior part of the mitral annulus, with markedly calcified margins, and no significant impact on the valve function. In computed tomography (CT) lesion was described as calcified (24×22×17.5 mm), connected with posterior leaflet and posterior part of the mitral annulus, reducing posterior leaflet mobility. CT brought the suggestion of caseous mitral annular calcification. Coming to a conclusion, bearing in mind no mitral valve dysfunction at that time, patient was offered conservative treatment. Although caseous mitral annular calcification is typically an incidental finding, accurate recognition is needed to avoid mistaking the lesion for a tumor or abscess, which may result in unnecessary cardiac surgery. However this entity is diagnosed on cardiac MRI, multi-modality imaging, especially non-contrast CT, allows for the confident, prospective diagnosis

  18. Cardiovascular findings of children with Marfan syndrome

    Directory of Open Access Journals (Sweden)

    Filiz Şenocak

    2012-06-01

    Full Text Available Objectives: The aim of our study is to investigate thefrequency of structural heart diseases in patients withMarfan syndrome (MS and to reveal the importance ofclinical follow-up in MS.Materials and methods: Study population consisted of17 patients admitted to the Pediatric Cardiology departmentbetween January 2005 and March 2010 with thediagnosis of MS according to the Ghent criteria. Patientswere evaluated for the eye, genetic and the cardiovascularsystem abnormalities. Physical examination findings,echocardiographic, and radiological examinations of thepatients were evaluated retrospectively.Results: Of the 17 cases, 9 were girls and 8 were males,ages ranged from 1 month to 17 years (mean 9.7 years.There was a second degree of kinship between mothersand fathers in 5 patients. Respiratory distress, syncope,chest pain and palpitation were the most seen in thepresentation complaint of the patients. Skeletal findingsobserved in 13 patients, 4 patients had subluxation ofthe lens. Two patients had positive family history. Whencardiovascular findings were examined, there were aorticroot dilatation with mitral valve prolapse and/or tricuspidvalve prolapse in 8 patients, mitral valve prolapse in 3patients only aortic root dilatation in 3 patients and mitralvalve prolapse and tricuspid valve prolapse in 3 patients.Mean follow-up period was 2.6 years, aneurysm and ruptureof the aorta wasn’t observed during this period.Conclusion: In patients with Marfan syndrome, regularfollow-up and cardiological evaluation should be done becausesignificant structural heart diseases can be seenin these patients. J Clin Exp Invest 2012; 3(2: 199-201

  19. Lung ultrasound findings in meconium aspiration syndrome.

    Science.gov (United States)

    Piastra, Marco; Yousef, Nadya; Brat, Roselyne; Manzoni, Paolo; Mokhtari, Mostafa; De Luca, Daniele

    2014-09-01

    Meconium aspiration syndrome (MAS) is a rare and life-threatening neonatal lung injury induced by meconium in the lung and airways. Lung ultrasound (LUS) is a quick, easy and cheap imaging technique that is increasingly being used in critical care settings, also for newborns. In this paper we describe ultrasound findings in MAS. Six patients with MAS of variable severity were examined by LUS during the first hours of life. Chest X-rays were used as reference. The following dynamic LUS signs were seen in all patients: (1) B-pattern (interstitial) coalescent or sparse; (2) consolidations; (3) atelectasis; (4) bronchograms. No pattern was observed for the distribution of signs in lung areas, although the signs varied with time, probably due to the changing localisation of meconium in the lungs. LUS images corresponded well with X-ray findings. In conclusion, we provide the first formal description of LUS findings in neonates with MAS. LUS is a useful and promising tool in the diagnosis and management of MAS, providing real-time bedside imaging, with the additional potential benefit of limiting radiation exposure in sick neonates. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  20. Imaging findings of femoroacetabular impingement syndrome

    International Nuclear Information System (INIS)

    Beall, Douglas P.; Sweet, Clifford F.; Martin, Hal D.; Lastine, Craig L.; Grayson, David E.; Ly, Justin Q.; Fish, Jon R.

    2005-01-01

    Femoroacetabular impingement syndrome (FAI) is a pathologic entity which can lead to chronic symptoms of pain, reduced range of motion in flexion and internal rotation, and has been shown to correlate with degenerative arthritis of the hip. History, physical examination, and supportive radiographic findings such as evidence of articular cartilage damage, acetabular labral tearing, and early-onset degenerative changes can help physicians diagnose this entity. Several pathologic changes of the femur and acetabulum are known to predispose patients to develop FAI and recognition of these findings can ultimately lead to therapeutic interventions. The two basic mechanisms of impingement - cam impingement and pincer impingement - are based on the type of anatomic anomaly contributing to the impingement process. These changes can be found on conventional radiography, MR imaging, and CT examinations. However, the radiographic findings of this entity are not widely discussed and recognized by physicians. In this paper, we will introduce these risk factors, the proposed supportive imaging criteria, and the ultimate interventions that can help alleviate patients' symptoms. (orig.)

  1. Imaging findings of femoroacetabular impingement syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Beall, Douglas P.; Sweet, Clifford F.; Martin, Hal D.; Lastine, Craig L.; Grayson, David E.; Ly, Justin Q.; Fish, Jon R. [University of Oklahoma Health Sciences Center, Department of Radiologal Sciences, Oklahoma City (United States)

    2005-11-01

    Femoroacetabular impingement syndrome (FAI) is a pathologic entity which can lead to chronic symptoms of pain, reduced range of motion in flexion and internal rotation, and has been shown to correlate with degenerative arthritis of the hip. History, physical examination, and supportive radiographic findings such as evidence of articular cartilage damage, acetabular labral tearing, and early-onset degenerative changes can help physicians diagnose this entity. Several pathologic changes of the femur and acetabulum are known to predispose patients to develop FAI and recognition of these findings can ultimately lead to therapeutic interventions. The two basic mechanisms of impingement - cam impingement and pincer impingement - are based on the type of anatomic anomaly contributing to the impingement process. These changes can be found on conventional radiography, MR imaging, and CT examinations. However, the radiographic findings of this entity are not widely discussed and recognized by physicians. In this paper, we will introduce these risk factors, the proposed supportive imaging criteria, and the ultimate interventions that can help alleviate patients' symptoms. (orig.)

  2. Horner's Syndrome Incidental to Medullary Thyroid Carcinoma Excision: Case Report and Brief Literature Review

    Science.gov (United States)

    Mastronikolis, Nicholas S.; Spiliopoulou, Sofia P.; Zolota, Vassiliki; Papadas, Theodoros A.

    2016-01-01

    Horner's syndrome is characterized by a combination of ipsilateral miosis, blepharoptosis, enophthalmos, facial anhidrosis, and iris heterochromia in existence of congenital lesions. The syndrome results from a disruption of the ipsilateral sympathetic innervation of the eye and ocular adnexa at different levels. Though rare, thyroid and neck surgery could be considered as possible causes of this clinical entity. We present a case of Horner's syndrome in a patient after total thyroidectomy and neck dissection for medullary thyroid cancer with neck nodal disease and attempt a brief review of the relevant literature. PMID:27200201

  3. Horner’s Syndrome Incidental to Medullary Thyroid Carcinoma Excision: Case Report and Brief Literature Review

    Directory of Open Access Journals (Sweden)

    Nicholas S. Mastronikolis

    2016-01-01

    Full Text Available Horner’s syndrome is characterized by a combination of ipsilateral miosis, blepharoptosis, enophthalmos, facial anhidrosis, and iris heterochromia in existence of congenital lesions. The syndrome results from a disruption of the ipsilateral sympathetic innervation of the eye and ocular adnexa at different levels. Though rare, thyroid and neck surgery could be considered as possible causes of this clinical entity. We present a case of Horner’s syndrome in a patient after total thyroidectomy and neck dissection for medullary thyroid cancer with neck nodal disease and attempt a brief review of the relevant literature.

  4. Angelman Syndrome: Finding the Lost Arc

    OpenAIRE

    Tai, Hwan-Ching; Schuman, Erin M.

    2010-01-01

    Angelman syndrome is a neurodevelopmental disorder caused by mutations in the maternally inherited UBE3A gene, which encodes a ubiquitin ligase. Greer et al. (2010) now identify a UBE3A substrate called Arc that promotes endocytosis of neuronal AMPA receptors, providing insight into synaptic defects that may underlie the cognitive deficits in Angelman syndrome.

  5. Dental findings in Cornelia de Lange syndrome.

    Science.gov (United States)

    Toker, Aslihan Soyal; Ay, Sinan; Yeler, Hasan; Sezgin, Ilhan

    2009-04-30

    Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the symptoms of the Hutchinson's syndrome, which had never been reported before.

  6. Cortical heterotopia in Aicardi's syndrome - CT findings

    International Nuclear Information System (INIS)

    Besenski, N.; Bosnjak, V.; Ligutic, I.; Marusic-Della Marina, B.

    1988-01-01

    The case of 5-month-old female infant with Aicardi's syndrome is presented. The main clinical features were severe developmental retardation and intractable epileptic seizures. Ophthalmoscopic examination revealed pathognomonic choriorethinopathy. Ultrasonic examination of the brain detected agenesis of the corpus callosum, whereas CT showed a coexisting malformation of the brain, i.e. cortical heterotopia of the gray matter. Agenesis of the corpus callosum is an entity well-recognized by sonography. However, ultrasonography is an insufficient modality for the visualization of cortical heterotopia which is common to all cases of Aicardi's syndrome. Therefore, in cases of suspected Aicardi's syndrome CT is recommended, as it enables the diagnosis of cortical heterotopia. (orig.)

  7. [Systemic and ophthalmological findings in Cornelia de Lange syndrome].

    Science.gov (United States)

    Mrugacz, Małgorzata; Sielicka, Danuta

    2012-01-01

    Cornelia de Lange Syndrome (CdLS, de Lange syndrome, Brachmann-de Lange syndrome), is a relatively rare genetic disorder, characterized by set of clinical abnormalities concerning different organs and systems. Phenotypic diagnosis is based on a specific dysmorphic features seen after the birth. We described a genetic basis, hereditary patterns, characteristic dysmorphic features and the most common clinical findings of patients Cornelia de Lange Syndrome concerning eye and vision, hearing, cardiovascular, respiratory, gastrointestinal, genitourinary, skeletal and psychomotor development.

  8. MRI findings in thoracic outlet syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Aralasmak, Ayse; Sharifov, Rasul; Kilicarslan, Rukiye; Alkan, Alpay [Bezmialem Vakif University, Department of Radiology, Fatih/Istanbul (Turkey); Cevikol, Can; Karaali, Kamil; Senol, Utku [Akdeniz University, Department of Radiology, Antalya (Turkey)

    2012-11-15

    We discuss MRI findings in patients with thoracic outlet syndrome (TOS). A total of 100 neurovascular bundles were evaluated in the interscalene triangle (IS), costoclavicular (CC), and retropectoralis minor (RPM) spaces. To exclude neurogenic abnormality, MRIs of the cervical spine and brachial plexus (BPL) were obtained in neutral. To exclude compression on neurovascular bundles, sagittal T1W images were obtained vertical to the longitudinal axis of BPL from spinal cord to the medial part of the humerus, in abduction and neutral. To exclude vascular TOS, MR angiography (MRA) and venography (MRV) of the subclavian artery (SA) and vein (SV) in abduction were obtained. If there is compression on the vessels, MRA and MRV of the subclavian vessels were repeated in neutral. Seventy-one neurovascular bundles were found to be abnormal: 16 arterial-venous-neurogenic, 20 neurogenic, 1 arterial, 15 venous, 8 arterial-venous, 3 arterial-neurogenic, and 8 venous-neurogenic TOS. Overall, neurogenic TOS was noted in 69%, venous TOS in 66%, and arterial TOS in 39%. The neurovascular bundle was most commonly compressed in the CC, mostly secondary to position, and very rarely compressed in the RPM. The cause of TOS was congenital bone variations in 36%, congenital fibromuscular anomalies in 11%, and position in 53%. In 5%, there was unilateral brachial plexitis in addition to compression of the neurovascular bundle. Severe cervical spondylosis was noted in 14%, contributing to TOS symptoms. For evaluation of patients with TOS, visualization of the brachial plexus and cervical spine and dynamic evaluation of neurovascular bundles in the cervicothoracobrachial region are mandatory. (orig.)

  9. Imaging findings in PHACES syndrome. Case report

    International Nuclear Information System (INIS)

    Montes J, Natalia; Vargas V, Sergio; Gomez C, Christhian

    2010-01-01

    Capillary hemangiomas of infancy are the most common childhood tumors, mainly in children under 1 year old, and they usually involve the head and neck. They are usually solitary, but about 20% of the children with large cervicofacial hemangiomas will have one of the anomalies associated with PHACES syndrome. PHACES is a rare neuro cutaneous syndrome with female predominance and features such as: brain malformations in the posterior fossa, hemangiomas, arterial anomalies, coarctation of the aorta, heart defects, and ocular abnormalities. When associated with sternal slit and/or supra umbilical Raphe, it is referred to as PHACES syndrome. The case of a 4-year-old child with congenital facial hemangioma associated to the posterior fossa and with cerebral vascular anomalies is presented.

  10. Coffin-Siris syndrome. Neuropathologic findings.

    Science.gov (United States)

    DeBassio, W A; Kemper, T L; Knoefel, J E

    1985-04-01

    We studied the neuropathologic features of a patient with Coffin-Siris syndrome. Two previously reported cases showed Dandy-Walker (D-W) malformations. In the present case there was no evidence of D-W malformation; instead there were hindbrain abnormalities of inferior and medial accessory olives, large arcuate nuclei, heterotopic olivary nuclei, and heterotopic nuclei in the white matter of the cerebellum. Although the hindbrain abnormalities in this case are different from those previously reported, they all have in common an intimate developmental relationship with the same embryological areas. This study suggests that the Coffin-Siris syndrome is a neurocutaneous disorder with hindbrain abnormalities in cerebellum and brain stem.

  11. Acute suppurative appendicitis associated with Enterobius vermicularis: an incidental finding or a causative agent? A case report.

    Science.gov (United States)

    Efared, Boubacar; Atsame-Ebang, Gabrielle; Soumana, Boubacar Marou; Tahiri, Layla; Hammas, Nawal; El Fatemi, Hinde; Chbani, Laila

    2017-10-06

    Histological acute appendicitis patterns associated with Enterobius vermicularis is an extremely rare finding. The exact role of this parasite in acute appendicitis is controversial as usually resected specimens show no evidence of histological inflammation. We present herein a case of a 21-year-old male Arabic patient who presented with clinical syndrome of acute appendicitis. Emergency appendectomy was performed and the histopathological examination of the resected specimen showed the presence of E. vermicularis as well as intense acute inflammatory patterns such as mucosal ulceration and suppurative necrosis. The post-operative course was uneventful and the patient was discharged with appropriate anti-helmintic drug prescription. Acute appendicitis due to E. vermicularis is a very rare occurrence. The histopathological analysis of resected specimens should pay special attention to search for this parasite for adequate post-operative treatment of patients.

  12. Audiometric Findings in Waardenburg's Syndrome Amongst the ...

    African Journals Online (AJOL)

    Results: Otoscopy was essentially normal but Audiometry revealed sensorineural hearing loss [SNHL] in all the subjects ranging from severe to profound with one subject being stone deaf. Conclusion: Waardenburg's syndrome is a rare disorder in our environment although it may be under reported. Two of the subjects ...

  13. Incidental Finding of Bilateral Dens Invaginatus in the Maxillary Lateral Incisors and Role of Cone Beam Computed Tomography in Diagnose and Treatment

    Directory of Open Access Journals (Sweden)

    Emre Köse

    2017-04-01

    Full Text Available Dens invaginatus (DI is a dental malformation commonly thought to occur as a result of an infolding of the enamel organ into the adjacent dental papilla during the development of the tooth. It shows a wide spectrum of variations in morphology and usually affects the maxillary lateral incisors. This study presents type 1 DI involving bilateral maxillary lateral incisors, which presented as an incidental radiographic finding in the laterals and was associated with a periapical lesion in the right one without caries. The case was successfully treated using nonsurgical endodontic treatment.

  14. SAPHO: syndrome or concept? Imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Earwaker, J.W.S. [Department of Medical Imaging, Holy Spirit Hospital, Brisbane (Australia); Cotten, A. [Service de Radiologie OsteoArticulaire, Hopital Roger Salengro, Lille (France)

    2003-06-01

    The SAPHO syndrome was a term coined to include a variety of musculoskeletal disorders associated with skin conditions, mainly palmoplantar pustulosis and acne conglobata. It is more correctly a spectrum which includes the following: skin lesions, osteoarticular manifestations of synovitis hyperostosis and osteitis affecting particular target sites, and.a clinical course marked by relapses and remissions. The major sites of involvement are the anterior chest wall, the spine, long bones, flat bones, and large and small joints. The distribution and severity of involvement varies from the adult to the pediatric form of chronic recurrent multifocal osteomyelitis (CRMO). The diagnosis of SAPHO syndrome is not difficult when the typical osteoarticular lesions are located in characteristic target sites. The diagnosis is more difficult if atypical sites are involved and there is no skin disease. (orig.)

  15. Cardiovascular findings of children with Marfan syndrome

    OpenAIRE

    Filiz Şenocak; Mahmut Keskin; Senem Özgür; Utku Arman Örün; Selmin Karademir; Özben Ceylan; Meki Bilici; Osman Yılmaz

    2012-01-01

    Objectives: The aim of our study is to investigate thefrequency of structural heart diseases in patients withMarfan syndrome (MS) and to reveal the importance ofclinical follow-up in MS.Materials and methods: Study population consisted of17 patients admitted to the Pediatric Cardiology departmentbetween January 2005 and March 2010 with thediagnosis of MS according to the Ghent criteria. Patientswere evaluated for the eye, genetic and the cardiovascularsystem abnormalities. Physical examinatio...

  16. Turner syndrome: neuroimaging findings: structural and functional.

    LENUS (Irish Health Repository)

    Mullaney, Ronan

    2009-01-01

    Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including the parietal lobe; cerebellum, amygdala, hippocampus; and basal ganglia; and perhaps differences in "connectivity" between frontal and parieto-occipital regions. Finally, there is preliminary evidence that genomic imprinting, sex hormones and growth hormone have significant modulatory effects on brain maturation in TS.

  17. Wolf's syndrome in a neonatal period: new find neuroradiology

    International Nuclear Information System (INIS)

    Gracia Chapulle, A.; Alvarez Villa, A.; Diaz Diaz, E.; Lopez Suarez, Y.

    1992-01-01

    We report a new born patient with Wolf's syndrome. We contribute with the most frequently clinical, genetics and radiological findings including a radiological discovery linked a malformation of the central nervous system, consistent in a genesia of the corpus callosum , not described so far in the reviewed literature about the Wolf syndrome. (author)

  18. An Incidental Finding of Eisenmenger Syndrome in an Adult Following a Motor Vehicle Accident

    Science.gov (United States)

    2017-05-19

    an adult patient with an uncorrected defect. Case Presentation: A 39 year-old male with history of substance abuse was found unconscious after being...had a heart condition as a child , access-to-care barriers had prevented a definitive diagnosis or pediatric intervention, leaving the worsening...correction of congenital abnormalities during pennatal screening. Case Presentation 39 year-old male ",;th history of substance abuse found unconscious after

  19. Fitz‑Hugh‑Curtis syndrome: An incidental diagnostic finding in an ...

    African Journals Online (AJOL)

    2016-01-18

    Jan 18, 2016 ... at our gynecological clinic with a complaint of inability to conceive of 4 years duration after marriage to a new husband despite regular unprotected sexual intercourse. Prior to the second marriage, she had a confinement in. 2007 for the first husband, but they separated due to erectile dysfunction. She had a ...

  20. Fitz‑Hugh‑Curtis syndrome: An incidental diagnostic finding in an ...

    African Journals Online (AJOL)

    Her husband's semen analysis was within normal range. She had a hysterosalpingogram that showed bilateral tubal blockage and clinical assessment showed right sided abdominal tenderness, cervical excitation tenderness, and adnexa tenderness. The endocervical swab test for Chlamydia trachomatis was a positive.

  1. Aicardi syndrome: a case report and radiologic findings

    International Nuclear Information System (INIS)

    Granzotto, Enrico; Prado, Cecilia Hissae Miyake Almeida; Barros, Andre Della Barba; Botter, Carlos Eduardo; Mendes, Rozana de Miranda; Granzotto, Ticiana

    2008-01-01

    The authors report the findings of Aicardi syndrome, a disease of unknown etiology composed of multiple spasms, chorioretinal lacunae and agenesis of the corpus callosum. They present a case of Aicardi syndrome with characteristic clinical presentation and magnetic resonance imaging findings. The disease, despite being considered rare, has characteristic imaging findings. Over the past years magnetic resonance imaging has improved its ability in demonstrating other findings besides agenesis of the corpus callosum, making the radiologist's role very important in the diagnostic suspicion of this disease. (author)

  2. Imaging findings in external snapping hip syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Krishnamurthy, Ganesh; Connolly, Bairbre L. [The Hospital for Sick Children, Image Guided Therapy, Diagnostic Imaging, Toronto (Canada); Narayanan, Unni [The Hospital for Sick Children, Pediatric Orthopedic Surgery, Toronto (Canada); Babyn, Paul S. [The Hospital for Sick Children, Diagnostic Imaging, Toronto (Canada)

    2007-12-15

    We describe a case of external snapping hip diagnosed by dynamic sonography. The case prompted us to retrospectively review the imaging findings of children who clinically had presented with snapping hip. From this review we identified the features on MRI and CT of either thickening of the iliotibial band or thickening of the anterior edge of the gluteus maximus muscle as the cause of snapping and atrophy of the bulk of gluteus maximus muscle as an important secondary sign associated with snapping. (orig.)

  3. Neuroimaging findings in Mowat-Wilson syndrome

    DEFF Research Database (Denmark)

    Garavelli, Livia; Ivanovski, Ivan; Caraffi, Stefano Giuseppe

    2017-01-01

    protein to be favorable for psychomotor development and some epilepsy features but also associated with corpus callosum agenesis. CONCLUSION: This study delineated the spectrum of brain anomalies in MWS and provided new insights into the role of ZEB2 in neurodevelopment.Genet Med advance online...... matter abnormalities (reduction of thickness 40.7%, localized signal alterations 22.2%). Other consistent findings were large basal ganglia, cortical, and cerebellar malformations. Most features were underrepresented in the literature. We also found ZEB2 variations leading to synthesis of a defective...

  4. Incidental findings in paranasal sinuses and mastoid cells. A cross-sectional magnetic resonance imaging (MRI) study in a pediatric radiology department

    Energy Technology Data Exchange (ETDEWEB)

    Kalle, T. von; Fabig-Moritz, C.; Winkler, P. [Olgahospital Klinikum, Stuttgart (Germany). Radiologie; Heumann, H. [Olgahospital Klinikum, Stuttgart (Germany). Paediatrische HNO-Heilkunde und Otologie

    2012-07-15

    Purpose: Misdiagnosis of 'sinusitis' is still frequent in children, although mucosal swelling in the paranasal sinuses of children has been reported as a common incidental finding. Recent radiological publications on the problem are rare. We prospectively evaluated the mucosal thickening in the paranasal sinuses and mastoid cells of children who underwent MRI of the head for reasons other than sinusitis or mastoiditis. Materials and Methods: 147 patients, 0.2 - 22.7 years, median 8.9. Axial and sagittal T2 TSE images were evaluated by two experienced pediatric radiologists. Categories for the degree of mucosal swelling were for the maxillary, frontal and sphenoid sinuses: no swelling, minor: < 5 mm, or major: {>=} 5 mm; for ethmoid cells and mastoid cells: not present, minor: {<=} 50 % of cells, or major: > 50 %. Results: 61 % of children had one or more salient findings in their paranasal sinuses or mastoid cells. 48 % had mucosal swelling in their paranasal cavities, 25 % in their mastoid cells. The prevalence was higher among children less than 10 years of age (60 % and 42 %) and among children with current upper respiratory tract infection (71 % and 35 %). There was no correlation to a history of headache, snoring, asthma and allergies, or to gender or place of residence. Conclusion: Mucosal swelling in paranasal sinuses and in mastoid cells is a frequent incidental finding in children. Even major mucosal swelling in a paranasal sinus is not necessarily a sign of infection. In radiological reports the terms 'sinusitis' and 'mastoiditis' should therefore be used with great caution. The initiation of treatment should be based on clinical symptoms and not on radiological abnormalities alone. (orig.)

  5. Mazabrauds Syndrome: A Case Diagnosed by Radiologic Findings

    Directory of Open Access Journals (Sweden)

    Tarkan Ergun

    2014-02-01

    Full Text Available Mazabraud%u2019s syndrome is defined as a rare coexistence of intramuscular myxomas and fibrous dysplasia of bone. We present a case of Mazabraud%u2019s syndrome diagnosed by CT and MRI findings in a 72-year-old man. The recognition of this entity is important for correct diagnosis and to reduce unnecessary biopsy and resection. Patients with Mazabraud%u2019s syndrome should be followed-up carefully because of malignant transformation risk of fibrous dysplasia lesions.

  6. Neuropsychiatric findings in Cushing syndrome and exogenous glucocorticoid administration.

    Science.gov (United States)

    Starkman, Monica N

    2013-09-01

    This article reviews the neuropsychiatric presentations elicited by spontaneous hypercortisolism and exogenous supraphysiologic glucocorticoids. Patients with Cushing disease and syndrome develop a depressive syndrome: irritable and depressed mood, decreased libido, disrupted sleep and cognitive decrements. Exogenous short-term glucocorticoid administration may elicit a hypomanic syndrome with mood, sleep and cognitive disruptions. Treatment options are discussed. Brain imaging and neuropsychological studies indicate elevated cortisol and other glucocorticoids are especially deleterious to hippocampus and frontal lobe. The research findings also shed light on neuropsychiatric abnormalities in conditions that have substantial subgroups exhibiting elevated and dysregulated cortisol: aging, major depressive disorder and Alzheimer's disease. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Striated nephrogram as an incidental finding in MRI examination of children; Streifiges Nephrogramm als Zufallsbefund nach Kontrastmittelgabe bei Kindern in der MRT

    Energy Technology Data Exchange (ETDEWEB)

    Strocka, S.; Sorge, I.; Ritter, L.; Hirsch, F.W. [Leipzig Univ. (Germany). Dept. of Pediatric Radiology

    2016-01-15

    A highly striated contrast pattern of the kidneys occasionally appears in abdominal MRI examinations of children following the administration of gadolinium. As this phenomenon is well known but has not yet been explicitly described in literature, we investigated how frequently and in which clinical context this occurred. 855 abdominal MRI examinations with contrast media of 362 children between 2006 and 2014 were analysed retrospectively. A striated renal parenchyma was found in a total of nine children and eleven examinations (1.3 % of examinations) and did only occur at a field strength of 3 Tesla. Of these children, seven had previously had tumors and chemotherapy. In two children there was no evidence of a previously serious condition with medications or a kidney disease. All of them had a normal renal function. A noticeably striated nephrogram in the later phase of an MRI examination following administration of gadolinium may appear as an incidental finding in examinations at 3 Tesla without pathological relevance.

  8. Achado incidental de agenesia do lobo hepático esquerdo em paciente com colecistite aguda Incidental finding of agenesis of the left hepatic lobe in a patient with acute cholecystitis

    Directory of Open Access Journals (Sweden)

    Bruno da Costa Martins

    2008-12-01

    Full Text Available INTRODUÇÃO: Anomalias da morfologia hepática são entidades raras causadas por desenvolvimento embriológico anormal do fígado. Podem ser classificadas como anomalias devido a desenvolvimento defeituoso do fígado (agenesia, aplasia e hipoplasia ou devido ao desenvolvimento excessivo (lobos acessórios. RELATO DO CASO: Paciente de 48 anos, do sexo feminino, obesa (IMC=40, que procurou o serviço de emergência com quadro de colecistite aguda. A paciente foi submetida a colecistectomia videolaparoscópica e durante o procedimento cirúrgico foi verificada a agenesia do lobo hepático esquerdo. A vesícula biliar estava em sua topografia habitual e não havia parênquima hepático à esquerda do ligamento falciforme. A colecistectomia foi realizada sem intercorrências e uma banda gástrica foi colocada para o tratamento da obesidade mórbida. Ela recebeu alta após 60 horasINTRODUCTION: Anomalies of hepatic morphology are rare entities caused by abnormal embryological development of the liver. They can be classified as anomalies due to defective development (agenesis, aplasia or hypoplasia or anomalies due to excessive development of the liver (accessory lobes. CASE REPORT: A 48 years old obese female looked for emergency assistance with acute cholecystitis. An incidental finding of left hepatic lobe agenesis was observed when the patient was submitted to laparoscopic cholecystectomy. There was no hepatic parenchyma to the left of falciform ligament and gallbladder was settled on its normal position. Cholecystectomy was performed uneventfully and an adjustable gastric band was placed for the treatment of the morbid obesity. The patient was discharged after 60 hours.

  9. The neuroradiological findings in a case of Revesz syndrome

    International Nuclear Information System (INIS)

    Scheinfeld, Meir H.; Lui, Yvonne W.; Gomes, William A.; Bello, Jacqueline A.; Kolb, Edward A.; Engel, Harry M.; Weidenheim, Karen M.

    2007-01-01

    Revesz syndrome is a variant of dyskeratosis congenita characterized by aplastic anemia, retinopathy, and central nervous system abnormalities. We describe a 3-year-old boy in whom the spectrum of neuroimaging findings, including intracranial calcifications, cerebellar hypoplasia and unusual brain lesions were found by biopsy to be gliosis despite their enhancement and progression. In patients with dyskeratosis-related syndromes, non-neoplastic parenchymal brain lesions occur and gliosis should be considered in the differential diagnosis for progressive enhancing brain lesions. Should this finding be confirmed consistently in additional cases, brain biopsy could potentially be avoided. (orig.)

  10. Budd-Chiari syndrome: CT and MRI findings

    International Nuclear Information System (INIS)

    Xu Kai; Li Lingsun

    2008-01-01

    Budd-Chiari syndrome is an uncommon but often fatal disorder resulting from obstruction of hepatic venous outflow tract at the level of the hepatic veins, the inferior vena cava. The CT and MRI characteristics of Budd-Chiari syndrome are reviewed in this article especially for displaying the exact site and extent of the obstruction. In addition to this direct sign, the indirect findings of venous obstruction such as the presence of intra-and extrahepatic collateral veins, caudate lobe enlargement, inhomogeneous liver enhancement, and regenerative nodules can also be demonstrated. Awareness of these findings is important for early diagnosis and appropriate treatment. (authors)

  11. Neuropsychological findings associated with Panayiotopoulos syndrome in three children.

    Science.gov (United States)

    Hodges, Samantha L; Gabriel, Marsha T; Perry, M Scott

    2016-01-01

    Panayiotopoulos syndrome is a common idiopathic benign epilepsy that has a peak age of onset in early childhood. The syndrome is multifocal and shows significant electroencephalogram (EEG) variability, with occipital predominance. Although a benign syndrome often refers to the absence of neurological and neuropsychological deficits, the syndrome has recently been associated with cognitive impairments. Also, despite frequent occipital EEG abnormalities, research regarding the visual functioning of patients is less reported and often contradictory. The purpose of this study was to gain additional knowledge regarding the neurocognitive functioning of patients with Panayiotopoulos syndrome and specifically to address any visual processing deficits associated with the syndrome. Following diagnosis of the syndrome based on typical clinical and electrophysiological criteria, three patients, aged 5, 8, and 10years were referred by epileptologists for neuropsychological evaluation. Neuropsychological findings suggest that the patients had notable impairments on visual memory tasks, especially in comparison with verbal memory. Further, they demonstrated increased difficulty on picture memory suggesting difficulty retaining information from a crowded visual field. Two of the three patients showed weakness in visual processing speed, which may account for weaker retention of complex visual stimuli. Abilities involving attention were normal for all patients, suggesting that inattention is not responsible for these visual deficits. Academically, the patients were weak in numerical operations and spelling, which both rely partially on visual memory and may affect achievement in these areas. Overall, the results suggest that patients with Panayiotopoulos syndrome may have visual processing and visual memory problems that could potentially affect their academic capabilities. Identifying such difficulties may be helpful in creating educational and remedial assistance programs for

  12. Neglectable benefit of searching for incidental findings in the Dutch-Belgian lung cancer screening trial (NELSON) using low-dose multidetector CT

    International Nuclear Information System (INIS)

    Wiel, J.C.M. van de; Wang, Y.; Xu, D.M.; Zaag-Loonen, H.J. van der; Jagt, E.J. van der; Oudkerk, M.; Klaveren, R.J. van

    2007-01-01

    The purpose of this study was to prospectively determine the frequency and spectrum of incidental findings (IFs) and their clinical implications in a high risk population for lung cancer undergoing low-dose multidetector computed tomography (MDCT) screening for lung cancer. Scans of 1,929 participants were evaluated for lung lesions and IFs by two radiologists. IFs were categorised as not clinically relevant or possibly clinically relevant. Findings were considered possibly clinically relevant if they could require further evaluation or could have substantial clinical implications. All possibly clinically relevant IFs were reviewed by a third radiologist, who determined its clinical relevance. Of all 1,929 participants, 1,410 (73%) had not clinically relevant IFs and 163 (8%) had possibly clinically relevant IFs of which 129 (79%) were indeed considered clinically relevant. Additional imaging was performed mainly by ultrasound (112 of 118, 96%). All but one lesion were concluded to be benign, mostly cysts (n = 115, 80%). Only 21 (1%) participants had findings with clinical implications. In one participant a malignancy was found, yet without any clinical benefit since no curative treatment was possible. Based on our results, we advise against systematically searching for and reporting of IFs in lung cancer screening studies using low-dose MDCT. (orig.)

  13. Incidental demyelinating inflammatory lesions in asymptomatic patients: a Brazilian cohort with radiologically isolated syndrome and a critical review of current literature

    Directory of Open Access Journals (Sweden)

    Antonio Carlos Martins Maia Jr.

    2012-01-01

    Full Text Available Despite the definition of specific diagnostic criteria to identify radiologically isolated syndrome (RIS suggestive of multiple sclerosis, its natural history remains incompletely understood. We retrospectively analyzed a Brazilian cohort of 12 patients to clarify their features and to emphasize the role of imaging predictors in clinical conversion. We demonstrated that, although some individuals did not exhibit progression over a lengthy follow-up period (16.7%, most patients will progress clinically or radiologically in the initial years of the follow-up (83.3%. Infratentorial and spinal cord involvement, as well as the total number of lesions, were more relevant predictors of progression than gadolinium enhancement. Further studies remain necessary to define the risk of conversion in males and to clarify the cognitive abilities of RIS patients. This study may provide an improved understanding of the natural course and evolution of incidental magnetic resonance imaging lesions, and further assists with the management of RIS in clinical practice.

  14. Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman.

    Science.gov (United States)

    Miura, Kentaro; Kondo, Ryoichi; Kurai, Makoto; Ishii, Keiko

    2015-12-01

    Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disease caused by mutations of germline folliculin (FCLN) mapped in the chromosome 17p11.2 region. BHD commonly accompanies renal tumors, fibrofolliculomas, multiple pulmonary cysts, and spontaneous pneumothorax. We report a case of a young Japanese woman in whom asymptomatic bilateral pneumothorax was found incidentally in a health screening, which led to the diagnosis of BHD. She had developed neither renal tumors nor fibrofolliculomas. However, her father, uncle, and aunt also experienced pneumothorax. In Japan, BHD is not yet well known because skin-related symptoms of fibrofolliculomas are sometimes absent unlike in most cases in Europe and the United States. On the basis of this case, we propose that BHD should be considered at the time of pneumothorax examination.

  15. Hallervorden Spatz syndrome: magnetic resonance findings. Case report

    International Nuclear Information System (INIS)

    Farage, Luciano; Castro, Mario Augusto Padula; Macedo, Tulio Augusto Alves; Assis, Marcelo Cardoso de; Souza, Lincoln Pereira de; Freitas, Luiz Oliveira de

    2004-01-01

    Hallervorden-Spatz syndrome is a neuro degenerative disease, autosomic recessive with two clinical features: early and late onset. Psychiatric, pyramidal and extrapyramidal signs are present in the late subtype. We report the case of a 41-old woman with extrapyramidal signs. Magnetic resonance imaging (MRI) showed the eye-of-the-tiger sign in the medial globus pallidus. This is due to a gliosis (increased signal) and accumulation of surrounding iron (decreased signal intensity) in long T R sequences. There is a strong relationship between MRI findings and the gene mutation responsible for this disease. It makes the MRI sensible for diagnosing this syndrome. (author)

  16. MRI findings of muscle involvement in idiopathic hypereosinophilic syndrome

    International Nuclear Information System (INIS)

    Hundt, W.; Staebler, A.; Reiser, M.

    1999-01-01

    A 40-year-old white man presented with fever, muscle pain, skin nodules and persistent hypereosinophilia over a period of 1 year. In addition, he had ventricular arrhythmias with episodes of tachycardia. Besides a lack of response to antiparasitic therapy, laboratory and pathological data excluded the diagnosis of trichinosis or any other parasitic infection. The patient's course of the disease over the previous 1 1 / 2 years was compatible with hypereosinophilic syndrome. In a muscle biopsy several eosinophilic perivascular and leucocytic intravascular infiltrates were found, indicative of muscle involvement by the disease. This is a report on the MRI findings of muscle involvement in idiopathic hypereosinophilic syndrome. (orig.)

  17. MELAS syndrome: neuroradiological findings; Sindrome MELAS: hallazgos neurorradiologicos

    Energy Technology Data Exchange (ETDEWEB)

    Cano, A.; Romero, A. I.; Bravo, F.; Vida, J. M.; Espejo, S. [Hospital Universitario Reina Sofia. Cordoba (Spain)

    2002-07-01

    To assess the computed tomography (CT) and magnetic resonance (MR) findings in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) and their contribution to the diagnosis of this entity. We present three patients in which a diagnosis of MELAS syndrome was confirmed by muscle biopsy. CT revealed pathological findings in two patients: bilateral calcifications in the basal nuclei in one and low-attenuation lesions in occipital lobes in the other. Initial or follow-up MR demonstrated pathological findings highly suggestive of MELAS syndrome in all the patients. They consisted of hyperintense lesions in T2-weighted images, located predominantly in the cortex of occipital and parietal lobes. Cerebellar atrophy was also observed in two patients. The clinical signs varied, but epileptic seizures, headache, vomiting, ataxia, muscle weakness and pyramidal involvement were among the major ones. Only one patient presented high lactic acid levels, and in two, the initial muscle biopsy was not conclusive enough to provide the definitive diagnosis. CT and, especially, MR are useful tools in the diagnosis of MELAS syndrome, particularly in those cases in which initial negative laboratory and histological results make diagnosis difficult. (Author) 21 refs.

  18. Incidentally detected non-palpable testicular tumours in adults at scrotal ultrasound: impact of radiological findings on management Radiologic review and recommendations of the ESUR scrotal imaging subcommittee

    International Nuclear Information System (INIS)

    Rocher, Laurence; Ramchandani, Parvati; Belfield, Jane; Bertolotto, Michele; Derchi, Lorenzo E.; Correas, Jean Michel; Oyen, Raymond; Tsili, Athina C.; Turgut, Ahmet Tuncay; Dogra, Vikram; Fizazi, Karim; Freeman, Simon; Richenberg, Jonathan

    2016-01-01

    The increasing detection of small testicular lesions by ultrasound (US) in adults can lead to unnecessary orchiectomies. This article describes their nature, reviews the available literature on this subject and illustrates some classical lesions. We also suggest recommendations to help characterization and management. The ESUR scrotal imaging subcommittee searched for original and review articles published before May 2015 using the Pubmed and Medline databases. Key words used were 'testicular ultrasound', 'contrast-enhanced sonography', 'sonoelastography', 'magnetic resonance imaging', 'testis-sparing surgery', 'testis imaging', 'Leydig cell tumour', 'testicular cyst'. Consensus was obtained amongst the members of the subcommittee, urologist and medical oncologist. Simple cysts are frequent and benign, and do not require follow up or surgery. Incidentally discovered small solid testicular lesions detected are benign in up to 80 %, with Leydig cell tumours being the most frequent. However, the presence of microliths, macrocalcifications and hypoechoic areas surrounding the nodule are findings suggestive of malignant disease. Asymptomatic small testicular lesions found on ultrasound are mainly benign, but findings such as microliths or hypoechoic regions surrounding the nodules may indicate malignancy. Colour Doppler US remains the basic examination for characterization. The role of newer imaging modalities in characterization is evolving. (orig.)

  19. Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

    Full Text Available Meckel syndrome (MKS is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, carrier testing, and prenatal diagnosis. Pregnancies with MKS fetuses may be associated with an elevated maternal serum α-fetoprotein level and an abnormal screening result in the second-trimester maternal serum screening test. The classic MKS triad of occipital encephalocele, postaxial polydactyly, and bilateral enlarged multicystic kidneys can be diagnosed before the 14th gestational weeks by ultrasonography. However, later in pregnancy, severe oligohydramnios may make the diagnosis of polydactyly and encephalocele difficult. Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. This article provides an overview of genetics, perinatal findings, and differential diagnosis of MKS. The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.

  20. Thoracic CT findings in Birt-Hogg-Dube syndrome.

    Science.gov (United States)

    Agarwal, Prachi P; Gross, Barry H; Holloway, Ben J; Seely, Jean; Stark, Paul; Kazerooni, Ella A

    2011-02-01

    Birt-Hogg-Dubé syndrome manifests in the thorax as lung cysts. The purpose of this article is to describe the CT characteristics of cysts in patients with Birt-Hogg-Dubé syndrome and to note other thoracic findings. The thoracic CT examinations of 17 patients with Birt-Hogg-Dubé syndrome were reviewed retrospectively for the presence, anatomic distribution (upper lung predominant, lower lung predominant, or diffuse), extent (size, number), and morphology (shape, wall thickness) of cysts. Any additional thoracic findings were also noted. The study population consisted of 13 women (76%) and four men (24%) with a mean age of 50.2 ±15.2 years. Two patients (12%) had normal findings on CT. Fifteen patients had cystic lung disease, all of whom had more than one cyst. Most patients had bilateral (13/15, 87%) and lower lung-predominant cysts (13/15, 87%). The cysts varied in size from 0.2 to 7.8 cm. The largest cysts were located in the lower lobes of 14 of 15 patients (93%). Of the nine patients with large cysts, most had at least one multiseptated cyst (7/9, 78%). Five of 15 patients (33%) had more than 20 cysts. Cyst shape varied among the 15 patients and also within individual patients (10/15, 67%) ranging from round to oval, lentiform, and multiseptated. Cysts showed no central or peripheral predominance. Discrete thin-walled cysts in patients with Birt-Hogg-Dubé syndrome are more numerous and larger in the lower lobes and vary in size and shape. Large lung cysts are frequently multiseptated. These features may aid in differentiating Birt-Hogg-Dubé syndrome from other more common cystic lung diseases.

  1. Retained Intra-Abdominal Surgical Clamp Complicating Emergency Laparotomy: Incidental Finding on Hysterosalpingogram for Evaluation of Tubal Infertility

    Directory of Open Access Journals (Sweden)

    Adebiyi Gbadebo Adesiyun

    2014-01-01

    Full Text Available The finding of intraperitoneal foreign body complicating surgical intervention broadly remains as an issue of safety in the operative room, a source of emotive concern for the patient, and an upsetting but equally embarrassing situation to the surgeon and the team. However, in the media world, it is a source of sumptuous and captivating headline on the newspaper and to the legal profession, an attractive case to prosecute. A middle age teacher presented with secondary infertility. She had emergency laparotomy fifteen years ago for ruptured tubal ectopic pregnancy in a private hospital and postoperative period was uneventful. Amongst other investigations to find out the cause of infertility, she had hysterosalpingography and a radio-opaque clamp was visualized on the films. She was counselled and had laparotomy. A pair of surgical Kocher clamps was retrieved buried in the mesentery.

  2. Dyke-Davidoff-Masson syndrome (cerebral hemiatrophy: Radiological findings

    Directory of Open Access Journals (Sweden)

    Yaşar Bükte

    2014-06-01

    Full Text Available Objective: The aim of this study was to present cross- sectional cranial imaging findings of cases with Dyke-Davidoff-Masson syndrome (DDMS. Methods: The findings of 16 cases in whom unilateral cerebral hemispheric atrophy was detected at computed tomography and/or magnetic resonance imaging were retrospectively evaluated. The cases consisted of 8 females and 8 males, the ages ranged between 5 and 53 (mean:24. Six of the cases were children and 10 were males. Five of the patients had CT and 13 had MRI scan. The images were retrospectively evaluated and cerebral parenchymal findings and compensatory cranial findings were noted. Results: All cases had unilateral cerebral hemispheric atrophy, ipsilateral cortical sulcal and lateral ventricular dilatation. Together with hemispheric atrophy ipsilateral atrophy of corpus callosum in 6 cases (37.5%, ipsilateral thalamic atrophy in 13 cases (81%, ipsilateral parahippocampal atrophy in 8 cases (50%, ipsilateral cerebral pedincular atrophy in 7 cases (44% and ipsilateral pontine atrophy in 3 cases (19% were detected. Gliotic signal changes were observed in 13 cases (81%. Of compensatory findings, unilateral calvarial thickening was focal in 4 cases (25%, and diffuse in 12 cases (75%. There was expansion in ipsilateral half of frontal sinus in 15 cases (94% and expansion in temporal bone aeration in 5 cases (31%. Conclusion: DDMS is a syndrome presenting with findings of cerebral hemiatrophy and calvarial hypertrophy. Cross-sectional radiological imaging findings may be variable among cases.

  3. Gestational, perinatal and family findings of patients with Patau syndrome

    OpenAIRE

    Rosa, Rafael Fabiano M.; Sarmento, Melina Vaz; Polli, Janaina Borges; Groff, Daniela de Paoli; Petry, Patrícia; de Mattos, Vinícius Freitas; Rosa, Rosana Cardoso M.; Trevisan, Patrícia; Zen, Paulo Ricardo G.

    2013-01-01

    OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, b...

  4. Shwachman-Diamond syndrome: clinical, radiological and sonographic findings

    Energy Technology Data Exchange (ETDEWEB)

    Berrocal, T. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Simon, M.J. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Al-Assir, I. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Prieto, C. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Pastor, I. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Pablo, L. de [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Lama, R. [Servicio de Gastroenterologia, Hospital Infantil `La Paz`, Madrid (Spain)

    1995-07-01

    Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, ``cup`` deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normal-sized pancreas. We discuss the differential diagnosis and review the literature. (orig.)

  5. Shwachman-Diamond syndrome: clinical, radiological and sonographic findings

    International Nuclear Information System (INIS)

    Berrocal, T.; Simon, M.J.; Al-Assir, I.; Prieto, C.; Pastor, I.; Pablo, L. de; Lama, R.

    1995-01-01

    Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, ''cup'' deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normal-sized pancreas. We discuss the differential diagnosis and review the literature. (orig.)

  6. Bare lymphocyte syndrome: imaging findings in an adult

    Energy Technology Data Exchange (ETDEWEB)

    Bernaerts, A.; Vandevenne, J.E.; De Schepper, A.M. [Dept. of Radiology, Universitair Ziekenhuis Antwerpen, Edegem (Belgium); Lambert, J. [Dept. of Dermatology, Universitair Ziekenhuis Antwerpen, Edegem (Belgium); De Clerck, L.S. [Dept. of Immunology, Universitair Ziekenhuis Antwerpen, Edegem (Belgium)

    2001-05-01

    Bare lymphocyte syndrome (BLS) is a rare primary immune disorder characterized by defective expression of human leukocyte antigen (HLA) on lymphocytes, often resulting in extensive and recurrent multi-organ infections. We describe a previously undiagnosed case of an adult woman who presented with radiological findings of severe bronchiectases, near-total granulomatous destruction of facial bones, and osteomyelitis. Diagnosis of BLS should be considered when evaluating children with unexplained bronchiectases or adults with long history of chronic multi-organ infections. (orig.)

  7. Cracked tooth syndrome--incidence, clinical findings and treatment.

    Science.gov (United States)

    Homewood, C I

    1998-08-01

    Cracked tooth syndrome (CTS) is a common occurrence in modern general practice. This article reviews the forces placed on the human dentition and the effect restorative dentistry has on the strength of tooth structure. The study reports on the incidence of CTS in a general practice, finding a far higher incidence in teeth which have had the marginal ridge restored than those which have not. The various types of treatment modalities advocated and their relative merits are discussed.

  8. High-resolution CT findings in Swyer-James syndrome

    International Nuclear Information System (INIS)

    Oh, Yu Whan; Kim, Jung Hyuk; Chung, Kyoo Byung; Suh, Won Hyuck

    1994-01-01

    The purpose of this study was to evaluate. the high-resolution CT features of Swyer-James syndrome with special attention to the airway lesions and to determine the clinical utility of high-resolution CT compared with that of chest radiography. In seven patients with Swyer-James syndrome, we retrospectively reviewed chest radiographs obtained during inspiration and expiration and high-resolution CT scans obtained in inspiration. The high-resolution CT appearance was evaluated and compared with that of chest radiography. On both chest radiographs and high-resolution CT, the affected lung volume was relatively diminished in four patients and normal in three patients. In all seven patients, chest radiographs showed hyperlucency of the lung which was unilateral in four and bilateral in three patients. Unilateral small hilum was seen in six patients and bronchiectasis was demonstrated in one patient on chest radiographs. The hyper lucent lung volume was not diminished on expiratory radiographs in all seven patients. In all patients, high-resolution CT demonstrated low attenuation regions of the lung either bilaterally(n=5) or unilaterally(n=2). Pulmonary vessels were markedly decreased in size and number in the lung parenchyma with low attenuation. Six patients had bronchiectasis on high-resolution CT, which were cylindrical or varicose in five and cystic in one. Bronchiolectasis was observed in three patients on high-resolution CT. The high-resolution CT findings are characteristic of Swyer-James syndrome. High-resolution CT is more sensitive than chest radiography in detecting regions of low attenuation and bronchiectasis and may be useful for the diagnosis of Swyer-James syndrome. Our results suggest that bronchiectasis is a frequently associated airway lesion of Swyer-James syndrome and bronchiolectasis may be associated in some cases

  9. Incidental findings of the kidneys, adrenal glands, adnexa uteri, gastrointestinal tract, mesentery and lymph nodes. Assessment and management recommendations; Zufallsbefunde von Niere, Nebenniere, Adnexen, Gastrointestinaltrakt, Mesenterium und Lymphknoten. Bewertung und Managementempfehlung

    Energy Technology Data Exchange (ETDEWEB)

    Scharitzer, M.; Tamandl, D.; Ba-Ssalamah, A. [Medizinische Universitaet Wien, Universitaetsklinik fuer Radiologie und Nuklearmedizin, Wien (Austria)

    2017-04-15

    Besides the upper abdominal parenchymal organs, the increasing application of cross-sectional imaging has also led to a rising number of incidental findings in the kidneys, adrenal glands, adnexa uteri, the gastrointestinal tract, mesentery and abdominal lymph nodes. Abdominal computed tomography investigations often show unexpected findings without any correlating symptoms. The growing clinical relevance is due to the large number of incidental findings as well as an increasing awareness of ethical and socioeconomic factors. When interpreting radiological findings not only morphological criteria but also individual risk factors of the patient and the clinical context are of great importance. The aims of this article are the description and evaluation of frequent incidental findings detected by computed tomography and to provide information about management recommendations. (orig.) [German] Neben den parenchymatoesen Oberbauchorganen hat der zunehmende Einsatz von Schnittbildverfahren zu einer vermehrten Anzahl von Zufallsbefunden der Nieren, Nebennieren, Adnexe, des Gastrointestinaltrakts, Mesenteriums und der intraabdominellen Lymphknoten gefuehrt. Abdominelle CT-Untersuchungen zeigen haeufig unerwartete Befunde ohne korrelierende Symptomatik. Die steigende klinische Relevanz ist einerseits auf die Zunahme inzidenteller Pathologien und andererseits auf ein wachsendes Bewusstsein ethischer und soziooekonomischer Faktoren zurueckzufuehren. Bei der radiologischen Interpretation sind neben morphologischen Kriterien sowohl die Einbeziehung der individuellen Risikofaktoren des Patienten als auch der klinische Gesamtkontext von grosser Bedeutung. Das Ziel dieses Artikels ist eine Beschreibung und Bewertung der in der Computertomographie detektierten genannten Zufallsbefunde sowie weiterer Managementempfehlungen. (orig.)

  10. CT scan findings of patients with Rett syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Suzuki, Hisaharu; Takanashi, Aiko; Hirayama, Yoshito; Sakuragawa, Norio; Arima, Masataka; Tateno, Akihiko; Koide, Hiroyoshi.

    1989-05-01

    CT findings and clinical features were analyzed in 16 female patients with Rett syndrome, whose ages were between 4 and 20. Fifteen patients had microcrania. Twelve patients were able to stand and run; however, the remaining 4 patients had the only ability to sit. CT revealed an atrophy of the ponse and various degrees of dilatation in the Silvian fissure, frontal sulcus, and space between the cranium and the frontal polar lobe. An atrophy in the frontal lobe, cerebral cortex surrounding the Silvian fissure, and white matter directly below the cortex seemed to have an important role in the occurrence of this syndrome. There was, however, no definitive correlation between the degree of atrophy and both the patient's age and motor function. Serial CT scannings with clinical process are required. (Namekawa, K).

  11. Progression of CT scan findings in Rett syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Suzuki, Hisaharu; Hirayama, Yoshito; Sakuragawa, Norio; Arima, Masataka (National Center of Neurology and Psychiatry, Kodaira, Tokyo (Japan))

    1989-07-01

    Progression of the lesions revealed by CT scan was observed in five girls with Rett syndrome. The most distinct and common finding was progressive dilatation of Sylvian fissures, frontal extracerebral space, interhemispheric fissure, and sulci mainly in frontal lobe. It may indicate progressive lesion in the frontal and the temporal lobes. In addition, dilatation of the anterior horns of the lateral ventricles and the third ventricle was noted in some cases. Brainstem and cerebellum were small at any age with some morphological development as the patients became elder. Neither malformations nor abnormalities in density were found in any case. It is concluded that the main lesion of Rett syndrome on CT scan is progressive and localized in the frontal and the temporal lobes. (author).

  12. Investigation of MRI findings of Tolosa-Hunt syndrome

    International Nuclear Information System (INIS)

    Guo Jian; Xian Junfang; Wang Zhenchang; Niu Yantao; Zhao Bo; Yan Fei; Liu Zhonglin; Yang Bentao

    2006-01-01

    Objective: To investigate Mill findings of Tolosa-Hunt syndrome and evaluate the role of MRI in diagnosis and differential diagnosis. Methods: Seventeen cases of Tolosa-Hunt syndrome, confirmed by clinical follow-up, were studied. MRI scanning of the brain and thin-slice MilI scanning of the cavernous sinus combined with contrast scanning were performed and compared with each other in all cases. Results: Enlarged cavernous sinus was found in thin-slice MRI combined with contrast scanning in all 17 cases, which showed isointense or mildly hypointense on both T 1 -weighted and T 2 -weighted images and markedly homogeneous enhancement on postcontrast T 1 -weighted imaging. Thin-slice MRI also showed the abnormalities of the superior orbital fissure in three cases, of the orbital apex in one case, and of both the superior orbital fissure and the orbital apex in three cases. Cavernous sinus segment of the internal carotid artery, encircled by the lesion was seen in six patients and localized narrowing of it was observed in four eases. However, abnormal appearances of the cavernous sinus were demonstrated in only eleven patients on MRI scanning of the brain. Therefore, thin-slice Mill combined with contrast scanning was superior to Mill scanning of the brain in evaluation of Tolosa-Hunt syndrome (χ 2 =4.17, P<0.05). Conclusion: Compared with MRI scanning of the brain, thin-slice MRI scanning of the cavernous sinus combined with contrast scanning could better reveal the characteristic findings of Tolosa-Hunt syndrome, contributing to diagnosis and differential diagnosis as well as follow-up. (authors)

  13. Lissencephaly (agyria) syndrome. Computed tomographic and neuropathological findings

    Energy Technology Data Exchange (ETDEWEB)

    Nakai, Minako; Takashima, Sachio; Yoshida, Haruhiko (Tottori Univ., Yonago (Japan). School of Medicine)

    1983-01-01

    Lissencephaly (agyria) is a rare congenital brain anomaly characterized by a lack of apparent gyri formation. We reported previously a case of the lissencephaly syndrome. This paper presented a comparison between CT findings at the age of 5 months and neuropathological findings at 19 months. The macroscopical examination showed smooth surface without cerebral convolution, incomplete sylvian fissure formation without operculum insulae, cavum septi pellucidi, enlargement of the lateral ventricle especially in the posterior portion, thicker white matter of frontal lobe than that of occipital lobe, thick cortex with poor demarcation between gray and white matter. These changes corresponded well to the findings in CT previously done; Therefore CT scan is useful for the diagnosis of this disease. Golgi study revealed that there was a disorganization of neuronal disposition and developmental retardation or arrest of neutrons, in addition to a maldevelopment of cortical cellular layers. In the patient there was a history of acute exanthematous disease of her mother at 2 months of pregnancy. The patient showed hepatosplenomegaly with elevation of IgM and cytomegalovirus CF titer at 5 months, and chronic nonspecific infectious lesions with necrosis in lymphnodes, liver and submandibular glands at autopsy. These clinical and pathological findings may be considered to suggest that the intrauterine infection had caused the syndrome in this patient.

  14. Correlation of MRI findings with clinical findings of trochanteric pain syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Blankenbaker, Donna G.; Ullrick, Steven R.; Davis, Kirkland W.; De Smet, Arthur A. [University of Wisconsin School of Medicine and Public Health, Department of Radiology, Madison, WI (United States); Haaland, Ben; Fine, Jason P. [University of Wisconsin School of Medicine and Public Health, Departments of Biostatistics and Medical Informatics and Statistics, Madison, WI (United States)

    2008-10-15

    Greater trochanter pain syndrome due to tendinopathy or bursitis is a common cause of hip pain. The previously reported magnetic resonance (MR) findings of trochanteric tendinopathy and bursitis are peritrochanteric fluid and abductor tendon abnormality. We have often noted peritrochanteric high T2 signal in patients without trochanteric symptoms. The purpose of this study was to determine whether the MR findings of peritrochanteric fluid or hip abductor tendon pathology correlate with trochanteric pain. We retrospectively reviewed 131 consecutive MR examinations of the pelvis (256 hips) for T2 peritrochanteric signal and abductor tendon abnormalities without knowledge of the clinical symptoms. Any T2 peritrochanteric abnormality was characterized by size as tiny, small, medium, or large; by morphology as feathery, crescentic, or round; and by location as bursal or intratendinous. The clinical symptoms of hip pain and trochanteric pain were compared to the MR findings on coronal, sagittal, and axial T2 sequences using chi-square or Fisher's exact test with significance assigned as p<0.05. Clinical symptoms of trochanteric pain syndrome were present in only 16 of the 256 hips. All 16 hips with trochanteric pain and 212 (88%) of 240 without trochanteric pain had peritrochanteric abnormalities (p=0.15). Eighty-eight percent of hips with trochanteric symptoms had gluteus tendinopathy while 50% of those without symptoms had such findings (p=0.004). Other than tendinopathy, there was no statistically significant difference between hips with or without trochanteric symptoms and the presence of peritrochanteric T2 abnormality, its size or shape, and the presence of gluteus medius or minimus partial thickness tears. Patients with trochanteric pain syndrome always have peritrochanteric T2 abnormalities and are significantly more likely to have abductor tendinopathy on magnetic resonance imaging (MRI). However, although the absence of peritrochanteric T2 MR abnormalities

  15. Correlation of MRI findings with clinical findings of trochanteric pain syndrome

    International Nuclear Information System (INIS)

    Blankenbaker, Donna G.; Ullrick, Steven R.; Davis, Kirkland W.; De Smet, Arthur A.; Haaland, Ben; Fine, Jason P.

    2008-01-01

    Greater trochanter pain syndrome due to tendinopathy or bursitis is a common cause of hip pain. The previously reported magnetic resonance (MR) findings of trochanteric tendinopathy and bursitis are peritrochanteric fluid and abductor tendon abnormality. We have often noted peritrochanteric high T2 signal in patients without trochanteric symptoms. The purpose of this study was to determine whether the MR findings of peritrochanteric fluid or hip abductor tendon pathology correlate with trochanteric pain. We retrospectively reviewed 131 consecutive MR examinations of the pelvis (256 hips) for T2 peritrochanteric signal and abductor tendon abnormalities without knowledge of the clinical symptoms. Any T2 peritrochanteric abnormality was characterized by size as tiny, small, medium, or large; by morphology as feathery, crescentic, or round; and by location as bursal or intratendinous. The clinical symptoms of hip pain and trochanteric pain were compared to the MR findings on coronal, sagittal, and axial T2 sequences using chi-square or Fisher's exact test with significance assigned as p<0.05. Clinical symptoms of trochanteric pain syndrome were present in only 16 of the 256 hips. All 16 hips with trochanteric pain and 212 (88%) of 240 without trochanteric pain had peritrochanteric abnormalities (p=0.15). Eighty-eight percent of hips with trochanteric symptoms had gluteus tendinopathy while 50% of those without symptoms had such findings (p=0.004). Other than tendinopathy, there was no statistically significant difference between hips with or without trochanteric symptoms and the presence of peritrochanteric T2 abnormality, its size or shape, and the presence of gluteus medius or minimus partial thickness tears. Patients with trochanteric pain syndrome always have peritrochanteric T2 abnormalities and are significantly more likely to have abductor tendinopathy on magnetic resonance imaging (MRI). However, although the absence of peritrochanteric T2 MR abnormalities

  16. The Chediak-Higashi syndrome: CT and MR findings

    Energy Technology Data Exchange (ETDEWEB)

    Ballard, R. (Dept. of Radiology, Neuroradiology Section, Duke Univ. Medical Center, Durham, NC (United States)); Tien, R.D. (Dept. of Radiology, Neuroradiology Section, Duke Univ. Medical Center, Durham, NC (United States)); Nohria, V. (Dept. of Neurology, Duke Univ. Medical Center, Durham, NC (United States)); Juel, V. (Dept. of Neurology, Duke Univ. Medical Center, Durham, NC (United States))

    1994-08-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder postulated to result from lack of regulation of fusion of the primary lysosomes. In this report we present the MR and CT features of the brain in a patient with known CHS. These findings include diffuse atrophy of the brain with diffuse periventricular decreased density identified with CT, as well as increased signal on the T2-weighted images and lack of enhancement on the T1-weighted images in the periventricular and corona radiata regions. (orig.)

  17. The Chediak-Higashi syndrome: CT and MR findings

    International Nuclear Information System (INIS)

    Ballard, R.; Tien, R.D.; Nohria, V.; Juel, V.

    1994-01-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder postulated to result from lack of regulation of fusion of the primary lysosomes. In this report we present the MR and CT features of the brain in a patient with known CHS. These findings include diffuse atrophy of the brain with diffuse periventricular decreased density identified with CT, as well as increased signal on the T2-weighted images and lack of enhancement on the T1-weighted images in the periventricular and corona radiata regions. (orig.)

  18. Humoral Immunity in Bronchiectasis: Finding Good’s Syndrome

    Directory of Open Access Journals (Sweden)

    C. Pu

    2015-01-01

    Full Text Available We present a case of a 37-year-old man with a past history of a surgically removed thymoma, who presented with recurrent pulmonary infections and bronchiectasis. On further testing, he was found to have low total immunoglobulin levels, a constellation of findings known as Good’s syndrome. He responded well to immunoglobulin replacement, in addition to the usual treatments for bronchiectasis. We present this case to emphasize the association of bronchiectasis, low immunoglobulins, and thymomas and the role of immunoglobulin replacement as a treatment option.

  19. Reversible posterior leukoencephalopathy syndrome in children; MR imaging findings

    International Nuclear Information System (INIS)

    Lee, Sang Kwon; Kim, Yong Sun; Kwon, Soon Hak

    2001-01-01

    To find out the characteristic MR findings of reversible posterior leukoen-cephalopathy syndrome (RPLS) due to various causes in chldren. Eigh children with RPLS underwent MR imaging, and the findings were retrospectively analyzed. All eight were acutely hypertensive at the time of a neurotoxic episode. Three had intra-abdominal tumors (one adrenal pheochromo-cytoma, one para-aortic paraganglioma and one para-aortic ganglioneuroma encasing the left renal artery): three were being treated with cyclosporine: one was being treated with steroid: and one had hemolytric uremic syndrome. Initial cranial MR images were analyzed with particular emphasis on the distribution of the lesions. To assess possible sequelae, follow-up MR images were obtained in seven patients at least one week after the treatment of hypertension. Four underwent proton MR spectroscopy. Characteristic distribution of lesions in the occipital and posterior parietal lobes was identified in all cases regardless of the causes of RPLS. The cerebellum, basal ganglia, anterior parietal, and frontal lobe were involved in four, two, one, and one case, respectively. Cortical gray matter involvement was predominant in six and subcortical white matter involvement predominated in two patients. The distribution of lesions was bilateral and asymmetric. Gyriform enhancement was identified in six cases, and small hemorrhage was noted in one. In seven patients, the clinical and MR findings improved without sequelae on follow-up study. In one, proton MR spectroscopy demonstrated a high lactate peak at the time of the neurologic event. Nearnormal spectra were noted in three children who underwent proton MR spectroscopy after recovery. The MR findings of RPLS are characteristic in that lesions are distributed in the posterior region of the brain and they are reversible on follow-up study. In children with RPLS due to unknown causes, the possibility of intra-abdominal tumors should also be consiodered

  20. Anomalies of abdominal organs in polysplenia syndrome: Multidetector computed tomography findings

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sung Won; Lee, Yong Seok; Jung, Jin Hee [Dept. of Radiology, Dongguk University Ilsan Hospital, Dongguk University School of Medicine, Goyang (Korea, Republic of)

    2016-02-15

    Polysplenia syndrome is a rare situs ambiguous anomaly associated with multiple spleens and anomalies of abdominal organs. Because most of the minor anomalies do not cause clinical symptoms, polysplenia syndrome is detected incidentally in the adults. Anomalies of abdominal organs may include multiple spleens of variable size or right-sided spleen, large midline or left-sided liver, midline gallbladder, biliary tract anomalies, short pancreas, right-sided stomach, intestinal malrotation, inferior vena cava interruption with azygos or hemiazygos continuation, and a preduodenal portal vein. As the multidetector computed tomography is increasingly used, situs anomalies will likely to be found with greater frequency in the adults. Therefore, radiologists should become familiar with these rare and peculiar anomalies of abdominal organs in polysplenia syndrome.

  1. Neuroradiographic findings in 22q11.2 deletion syndrome.

    Science.gov (United States)

    Bohm, Lauren A; Zhou, Tom C; Mingo, Tyler J; Dugan, Sarah L; Patterson, Richard J; Sidman, James D; Roby, Brianne B

    2017-08-01

    22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with enormous phenotypic heterogeneity. Despite the established prevalence of developmental and neuropsychiatric issues in this syndrome, its neuroanatomical correlates are not as well understood. A retrospective chart review was performed on 111 patients diagnosed with 22q11.2DS. Of the 111 patients, 24 with genetically confirmed 22q11.2 deletion and brain MRI or MRA were included in this study. The most common indications for imaging were unexplained developmental delay (6/24), seizures of unknown etiology (5/24), and unilateral weakness (3/24). More than half (13/24) of the patients had significant radiographic findings, including persistent cavum septi pellucidi and/or cavum vergae (8/24), aberrant cortical veins (6/24), polymicrogyria or cortical dysplasia (4/24), inner ear deformities (3/24), hypoplastic internal carotid artery (2/24), and hypoplastic cerebellum (1/24). These findings reveal the types and frequencies of brain malformations in this case series, and suggest that the prevalence of neuroanatomical abnormalities in 22q11.2DS may be underestimated. Understanding indications for imaging and frequently encountered brain malformations will result in early diagnosis and intervention in an effort to optimize patient outcomes. © 2017 Wiley Periodicals, Inc.

  2. Incidental versus non-incidental thyroid carcinoma: Clinical presentation, surgical management and prognosis.

    Science.gov (United States)

    González-Sánchez-Migallón, Elena; Flores-Pastor, Benito; Pérez-Guarinos, Carmen Victoria; Miguel-Perelló, Joana; Chaves-Benito, Asunción; Illán-Gómez, Fátima; Carrillo-Alcaraz, Andrés; Aguayo-Albasini, José Luis

    2016-11-01

    Thyroid cancer may be clinically evident as a tumor mass in the neck or as a histopathological incidental finding after thyroid surgery for an apparent benign condition. Our objective was to assess the differences in clinical signs, surgical management, and course between incidental and clinically diagnosed thyroid tumors. A retrospective study was conducted on patients operated on for benign or malignant thyroid disease from January 2000 to March 2014. Among the 1415 patients who underwent any thyroid surgery, 264 neoplasms were found, of which 170 were incidental. A comparison was made of incidental versus non-incidental carcinomas. Among incidental carcinomas, cases whose indication for surgery was Graves' disease were compared to those with multinodular goiter. Incidental carcinomas were in earlier stages and required less aggressive surgery. There were no differences in surgical complications between incidental and clinical tumors, but mortality and relapses were markedly higher in non-incidental cancers (4.4% vs 0% and 13.2% vs 4.8% respectively). Carcinomas developing on Graves' disease showed no differences from all other incidental tumors in terms of complications, mortality, or relapse after surgery. Early stage thyroid cancer has better survival and prognosis after surgical treatment. Copyright © 2016 SEEN. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Primary antiphospholipid antibody syndrome: neuroradiologic findings in 11 patients

    International Nuclear Information System (INIS)

    Kim, Jung Hoon; Choi, Choong Gon; Choi, Soo Jung; Lee, Ho Kyu; Suh, Dae Chul

    2000-01-01

    To describe the neuroradiologic findings of primary antiphospholipid antibody syndrome (PAPS). During a recent two-year period, abnormally elevated antiphospholipid antibodies were detected in a total of 751 patients. In any cases in which risk factors for stroke were detected - hypertension, diabetes mellitus, hyperlipidemia, smoking, and the presence of SLE or other connective tissue diseases - PAPS was not diagnosed. Neuroradiologic studies were performed in 11 of 32 patients with PAPS. We retrospectively reviewed brain CT (n = 7), MR (n = 8), and cerebral angiography (n = 8) in 11 patients with special attention to the presence of brain parenchymal lesions and cerebral arterial or venous abnormalities. CT or MR findings of PAPS included nonspecific multiple hyper-intensity foci in deep white matter on T2-weighted images (5/11), a large infarct in the territory of the middle cerebral artery (4/11), diffuse cortical atrophy (2/11), focal hemorrhage (2/11), and dural sinus thrombosis (1/11). Angiographic findings were normal (5/8) or reflected either occlusion of a large cerebral artery (2/8) or dural sinus thrombosis (1/8). Neuroradiologic findings of PAPS are nonspecific but in young or middle- aged adults who show the above mentioned CT or MR findings, and in whom risk factors for stroke are not present, the condition should be suspected

  4. Primary antiphospholipid antibody syndrome: neuroradiologic findings in 11 patients

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung Hoon; Choi, Choong Gon; Choi, Soo Jung; Lee, Ho Kyu; Suh, Dae Chul [Ulsan University College of Medicine, Seoul (Korea, Republic of)

    2000-03-01

    To describe the neuroradiologic findings of primary antiphospholipid antibody syndrome (PAPS). During a recent two-year period, abnormally elevated antiphospholipid antibodies were detected in a total of 751 patients. In any cases in which risk factors for stroke were detected - hypertension, diabetes mellitus, hyperlipidemia, smoking, and the presence of SLE or other connective tissue diseases - PAPS was not diagnosed. Neuroradiologic studies were performed in 11 of 32 patients with PAPS. We retrospectively reviewed brain CT (n = 7), MR (n = 8), and cerebral angiography (n = 8) in 11 patients with special attention to the presence of brain parenchymal lesions and cerebral arterial or venous abnormalities. CT or MR findings of PAPS included nonspecific multiple hyper-intensity foci in deep white matter on T2-weighted images (5/11), a large infarct in the territory of the middle cerebral artery (4/11), diffuse cortical atrophy (2/11), focal hemorrhage (2/11), and dural sinus thrombosis (1/11). Angiographic findings were normal (5/8) or reflected either occlusion of a large cerebral artery (2/8) or dural sinus thrombosis (1/8). Neuroradiologic findings of PAPS are nonspecific but in young or middle- aged adults who show the above mentioned CT or MR findings, and in whom risk factors for stroke are not present, the condition should be suspected.

  5. Clinical findings in obligate carriers of type I Usher syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wagenaar, M.; Rahe, B. ter; Aarem, A. van; Huygen, P.; Admiraal, R. [University Hospital Nijmegen (Netherlands)] [and others

    1995-11-20

    Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal puretone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electrooculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities. 29 refs., 1 fig., 3 tabs.

  6. Handling incidental findings in neuroimaging research in Japan: current state of research facilities and attitudes of investigators and the general population.

    Science.gov (United States)

    Fujita, Misao; Hayashi, Yoshinori; Tashiro, Shimon; Takashima, Kyoko; Nakazawa, Eisuke; Akabayashi, Akira

    2014-10-06

    To establish appropriate measures that deal with incidental findings (IFs), the neuroscience community needs to address various ethical issues. The current state of research facilities regarding IFs and investigator attitudes as well as potentially eligible research participants must be assessed prior to future discussions and before the development of policies and guidelines. To this end, we conducted two questionnaire surveys to clarify i) how IFs are addressed at neuroimaging research facilities in Japan and ii) the views of investigators and potential research participants regarding the handling of IFs. Thirty-one principal investigators (PIs) involved in the Strategic Research Program for Brain Sciences (SRPBS), a government-funded project, were asked to fill out a questionnaire regarding ways IFs were handled at the facility. A total of 110 investigators engaged in SRPBS tasks, including 31 PIs who participated in the research facility survey and researchers conducting studies under the management of the PIs, and 500 individuals from the general public (i.e., general population) were asked to select the most appropriate way to deal with IFs in two scenarios, namely the medical school and humanities and social sciences department scenarios. More than 40% of PIs responded that they did not know or were unsure of what type of approach was employed to handle IFs at their research facilities. Nevertheless, they were willing to improve the current status if sufficient resources were provided. With regard to specialist involvement, 37.7% of investigators responded that it was appropriate to have a specialist check all images in the medical school scenario, whereas 13.3% responded that such involvement was appropriate in the humanities and social sciences department scenario. In contrast, 76.1% and 61.0% of the general population indicated that specialist involvement was appropriate in the medical school and humanities and social sciences department scenarios

  7. Breast cancer only detected at US. Incidental finding or clinical evidence?; Le neoplasie mammarie visualizzabili solo con esame ecografico. Reperti incidentali o realta' clinica?

    Energy Technology Data Exchange (ETDEWEB)

    Nori, J.; Masi, A.; Boeri, C.; Vivian, A.; Nori Bufalini, F. [Azienda Ospedaliera Careggi, Florence (Italy). Unita' Operativa di Radiodiagnostica 2; Cariti, G. [Florence Univ., Florence (Italy). Dipt. di Ginecologia e Ostetricia

    2000-06-01

    Mammography is the only technique of proven efficacy in the early diagnosis of breast cancer, even though its sensitivity is much lower in breasts that are dense or with a high parenchymal-stroma component. In the past malignant breast nodules detected at US in patients with negative mammographic and physical findings were considered incidental findings, but more recent papers report increasing numbers of breast cancers detected only at US. It was investigated the yield of US performed as a diagnostic complement in asymptomatic women with mammographic findings that were either negative or poorly readable because of dense breast. 13 women were examined: 37 to 55 years old (mean 47): 9 of them were asymptomatic and 4 had poorly specific physical findings. The patients underwent physical examination, mammography, US, micro histologic biopsy with 14G needles under US guidance and surgery. Fourteen breast lesions 7.0-15 mm in diameter were detected only by US. Mammography (2 or 3 standard views) was negative in all cases. The lesions detected only by US (10% of all carcinomas) were typified with US-guided needle biopsy and finally confirmed surgically. Though obtained in a small series, the results seem to suggest that US should be included in the diagnostic work-up, especially of women with dense breast. Also, any hypoechoic lesion detected at breast US in clinically asymptomatic women with negative mammographic findings should be further investigated with US, needle aspiration or core biopsy to make the final diagnosis. [Italian] Si intende con questo lavoro valutare l'utilita' dell'esame ecografico, eseguito come completamento diagnostico in donne clinicamente negative e con mammografia negativa o comunque scarsamente leggibile in relazione alla elevata densita' del parenchima mammario (mammelle dense). Tredici donne con eta' compresa tra 37 e 55 anni (eta' media 47 anni) asintomatiche o con quadri clinici vaghi o comunque non

  8. Brain perfusion SPECT and EEG findings in Rett syndrome

    International Nuclear Information System (INIS)

    Lappalainen, R.; Liewendahl, K.; Nikkinen, P.; Sainio, K.; Riikonen, R.S.

    1997-01-01

    Thirteen patients (mean age 8.4 + 5.3 years) with Rett syndrome (RS) were studied with EEG and 99m Tc-HMPAO SPECT. Eleven patients had background abnormalities and 10 patients paroxysmal activity in EEG. Hypoperfusion of varying severity was detected in 11 patients, 7 patients having multiple lesions. Bifrontal hypoperfusion, observed in 6 patients, was the most distinctive finding. Hypoperfusion was observed also in other cortical regions, except for the occipital lobes. There was no correlation between severity of the background abnormality or presence of paroxysmal activity in EEG and grade of hypoperfusion. There was, however, an association between the severity of hypoperfusion and early manifestation of symptoms in patients with RS. Whether this early-onset group of patients represents a different disease entity or only reflects disease variability the basic pathology being the same, is a possibility that deserves further clarification. (au) 37 refs

  9. Brain perfusion SPECT and EEG findings in Rett syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lappalainen, R. [Children`s Castle Hospital, Dept. of Child Neurology, Helsinki (Finland); Liewendahl, K.; Nikkinen, P. [Univ. Central Hospital, Division of Nuclear Medicine, Laboratory Dept., Helsinki (Finland); Sainio, K.; Riikonen, R.S. [Univ. Central Hospital, Child Neurology, Helsinki (Finland)

    1997-01-01

    Thirteen patients (mean age 8.4 + 5.3 years) with Rett syndrome (RS) were studied with EEG and {sup 99m}Tc-HMPAO SPECT. Eleven patients had background abnormalities and 10 patients paroxysmal activity in EEG. Hypoperfusion of varying severity was detected in 11 patients, 7 patients having multiple lesions. Bifrontal hypoperfusion, observed in 6 patients, was the most distinctive finding. Hypoperfusion was observed also in other cortical regions, except for the occipital lobes. There was no correlation between severity of the background abnormality or presence of paroxysmal activity in EEG and grade of hypoperfusion. There was, however, an association between the severity of hypoperfusion and early manifestation of symptoms in patients with RS. Whether this early-onset group of patients represents a different disease entity or only reflects disease variability the basic pathology being the same, is a possibility that deserves further clarification. (au) 37 refs.

  10. Superior facet syndrome. Findings on metrizamide CT myelography

    Energy Technology Data Exchange (ETDEWEB)

    Kubo, Yoshichika; Igarashi, Seishi; Koyama, Tsunemaro

    1985-02-01

    Sciatica caused by root entrapment in the lateral recess was named superior facet syndrome by Epstein in 1972. Few reports on this subject based on large numbers of cases have been documented to date. Of the patients with sciatica, 32 patients were diagnosed to have root entrapment at the lateral recess L5 or/and S1 lumbar spine. Out of 32 patients, 20 patients were operated on and the lateral entrapment was recognized in all of surgical cases. Neuroradiological findings, especially of metrizamide CT (met. CT), were documented in detail. Thirty two patients were classified in three types according to radiological findings. They were congenital or developmental, degenerative, and combined type, respectively. Fourteen cases belonged to the congenital type, 13 to the degenerative and 5 to the combined type. Each group had the mean ages of 23.4, 53.8, and 36.8 years old, respectively. Of 32 cases the entrapment occured in 47 L5 roots and 11 S1 roots. There was no remarkable laterality. In operation the unroofing of the lateral recess were done and the sciatica subsided postoperatively in all of surgical cases. Met. CT revealed extreme medial protrusion of the superior articular joint in 18 of 24 cases(75%) and none filling of the root in the lateral recess in 21 of 24 cases (87.5%). In the degenerative type, met. CT showed some degenerative changes that were hypertrophy or deformity of the articular joints and spur formation of the vertebral body. In contrast to met. CT, metrizamide myelography revealed only slight changes, which were poor filling of the root before it turned out the pedicle of lateral compression of the root. In plain films or lumbar spine articular joints at Lsub(4/5) were formed in coronal plane in 69% of cases of the L5 root entrapment. Met. CT using ReView technique was of great diagnostic value in superior facet syndrome.

  11. Gestational, perinatal and family findings of patients with Patau syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-12-01

    Full Text Available OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS. METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. RESULTS: The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%. Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%; multiparous mothers (92.6%; vaginal delivery (77%; preterm birth (34.6%; birth weight <2500g (33.3%, and Apgar scores <7 in the 1st (75% and in the 5th minute (42.9%. About half of them (53% died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.

  12. Oral findings of Down syndrome children in Chennai city, India

    Directory of Open Access Journals (Sweden)

    Asokan Sharath

    2008-01-01

    Full Text Available Purpose: To assess the common oral findings and anomalies of Down syndrome (DS children in Chennai city, India. Materials and Methods: Among the 130 DS children examined, 102 children aged 15 years and below were included in the study. There were 57 male children and 45 female children in the total study sample. A specially prepared case record was used to record the following findings in each child: a brief family and personal history; anomalies of soft tissues, teeth, occlusion, and temporomandibular joint. Age wise and sex wise comparisons of the findings were done. Results: About 97 children (95% had the habit of regular tooth brushing. Everted lower lip (66%, retained primary teeth (31%, and midface deficiency (76% were the most commonly seen soft tissue, dental, and occlusion anomalies, respectively. Conclusions: Midface deficiency was the most common orofacial anomaly seen in these children, followed by everted lower lip and retained primary teeth. Almost all the children had a regular tooth brushing habit. All the children examined were offered free dental treatment in our dental college.

  13. Gestational, perinatal and family findings of patients with Patau syndrome.

    Science.gov (United States)

    Rosa, Rafael Fabiano M; Sarmento, Melina Vaz; Polli, Janaina Borges; Groff, Daniela de Paoli; Petry, Patrícia; Mattos, Vinícius Freitas de; Rosa, Rosana Cardoso M; Trevisan, Patrícia; Zen, Paulo Ricardo G

    2013-12-01

    To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%). Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%); multiparous mothers (92.6%); vaginal delivery (77%); preterm birth (34.6%); birth weight <2500g (33.3%), and Apgar scores <7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.

  14. Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

    Science.gov (United States)

    Tooley, Madeleine; Lynch, Danielle; Bernier, Francois; Parboosingh, Jillian; Bhoj, Elizabeth; Zackai, Elaine; Calder, Alistair; Itasaki, Nobue; Wakeling, Emma; Scott, Richard; Lees, Melissa; Clayton-Smith, Jill; Blyth, Moira; Morton, Jenny; Shears, Debbie; Kini, Usha; Homfray, Tessa; Clarke, Angus; Barnicoat, Angela; Wallis, Colin; Hewitson, Rebecca; Offiah, Amaka; Saunders, Michael; Langton-Hewer, Simon; Hilliard, Tom; Davis, Peter; Smithson, Sarah

    2016-05-01

    Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch-derivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants/children and 3 adults. Severe micrognathia and reduced numbers of ribs with gaps are consistent findings. Cleft palate, feeding difficulties, respiratory distress, tracheostomy requirement, and scoliosis are common. Additional malformations such as horseshoe kidney, hypospadias, and septal heart defect may occur. Microcephaly and significant developmental delay are present in a small minority of patients. Key radiological findings are of a narrow thorax, multiple posterior rib gaps and abnormal costo-transverse articulation. A novel finding in 2 patients is bilateral accessory ossicles arising from the hyoid bone. Recently, specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS. These mutations cluster in an alternatively spliced regulatory exon and result in altered SNRPB expression. DNA was available from 14 patients and SNRPB mutations were identified in 12 (4 previously reported). Eleven had recurrent mutations previously described in patients with CCMS and one had a novel mutation in the alternative exon. These results confirm the specificity of SNRPB mutations in CCMS and provide further evidence for the role of spliceosomal proteins in craniofacial and thoracic development. © 2016 Wiley Periodicals, Inc.

  15. Incidental copy-number variants identified by routine genome testing in a clinical population

    Science.gov (United States)

    Boone, Philip M.; Soens, Zachry T.; Campbell, Ian M.; Stankiewicz, Pawel; Cheung, Sau Wai; Patel, Ankita; Beaudet, Arthur L.; Plon, Sharon E.; Shaw, Chad A.; McGuire, Amy L.; Lupski, James R.

    2013-01-01

    Purpose Mutational load of susceptibility variants has not been studied on a genomic scale in a clinical population, nor has the potential to identify these mutations as incidental findings during clinical testing been systematically ascertained. Methods Array comparative genomic hybridization, a method for genome-wide detection of DNA copy-number variants, was performed clinically on DNA from 9,005 individuals. Copy-number variants encompassing or disrupting single genes were identified and analyzed for their potential to confer predisposition to dominant, adult-onset disease. Multigene copy-number variants affecting dominant, adult-onset cancer syndrome genes were also assessed. Results In our cohort, 83 single-gene copy-number variants affected 40 unique genes associated with dominant, adult-onset disorders and unrelated to the patients’ referring diagnoses (i.e., incidental) were found. Fourteen of these copy-number variants are likely disease-predisposing, 25 are likely benign, and 44 are of unknown clinical consequence. When incidental copy-number variants spanning up to 20 genes were considered, 27 copy-number variants affected 17 unique genes associated with dominant, adult-onset cancer predisposition. Conclusion Copy-number variants potentially conferring susceptibility to adult-onset disease can be identified as incidental findings during routine genome-wide testing. Some of these mutations may be medically actionable, enabling disease surveillance or prevention; however, most incidentally observed single-gene copy-number variants are currently of unclear significance to the patient. PMID:22878507

  16. Treacher Collins Syndrome; Anesthetic considerations and Molecular Findings

    Directory of Open Access Journals (Sweden)

    Shahram Sayyadi

    2018-01-01

    Full Text Available Treacher Collins Syndrome (TCS is a rare disease with mandibulofacial dysostosis. The deformities accompanied by this syndrome could cause especial challenges for anesthesiologist. On the other hand Treacher protein is well recognized in the pathogenesis of this syndrome. In this report we want to present a successful management of a patient with Treacher Collins syndrome and also describe new advances in the molecular aspect of this disease.

  17. Restless legs syndrome in post-polio syndrome: a series of 10 patients with demographic, clinical and laboratorial findings.

    Science.gov (United States)

    Marin, Luis F; Carvalho, Luciane B C; Prado, Lucila B F; Quadros, Abrahao A J; Oliveira, Acary S; Prado, Gilmar F

    2011-08-01

    Few studies have described the occurrence of restless legs syndrome in post-polio syndrome. We studied 10 consecutive patients with post-polio syndrome and symptoms of restless legs syndrome. We look at demographic, clinical and laboratorial data. A remarkable finding was the concomitant onset of symptoms of both diseases, suggesting a possible underlying mechanism. Severity of restless legs symptoms was moderate to very severe. Epidemiological studies with larger samples are needed to better establish the relationship and the incidence of restless legs syndrome in post-polio syndrome. Copyright © 2011 Elsevier Ltd. All rights reserved.

  18. Imaging findings of synovitis-acne-pustulosis-hyperostosis-osteomyelitis syndrome

    International Nuclear Information System (INIS)

    Tian Jun; Gong Wuxian; Liu Licheng; Xu Aide; Wang Shishan

    2011-01-01

    Objective: To explore the imaging characteristics of SAPHO syndrome in 11 cases. Methods: Clinical features and imaging findings from 11 patients (6 male, 5 female, 28 to 68 years old) with SAPHO syndrome were analyzed retrospectively Including DR in 9 cases, CT in 10 cases, MRI and radioisotope scanning in 3 cases. Results: Multi-bones of anterior chest wall disorders were shown in 9 cases on DR images including superior sternum, anterior first rib and clavicle hyperostosis. Bony fusion and bony bridge were also seen in these cases. Hyperostosis osteosclerosis, bone destruction and bony fusion of sternoclavicular articulation and first rib were shown on CT images in 9 cases. Osteosclerosis of the joint between manubrium and midsternum was seen in 1 case on CT image. The sign of flying sea gull was seen in 2 cases on axial anterior chest wall CT images. The disorders of anterior chest wall were bilateral in 8 cases and unilateral in 2 cases. Sacroiliitis and osteomyelitis of ilium were found accompanied in 1 case. Osteomyelitis of thoracic vertebrae were found in 2 cases, while sclerosing osteitis of lumbar vertebrae and osteoarthritis of bilateral hands were observed respectively in 1 case. The thicken soft tissue surround clavicle head, thoracic vertebra disease with long T 1 , jumbly T 2 and high fat suppression signal, long T 1 and short T 2 signal under sacroiliac joint were shown on MRI. Radioisotope scanning displayed higher radioactive uptake of radionuclides, with T shape in sternoclavicular area in 3 cases. Conclusions: Multi-bones of anterior chest wall involvement was the common imaging characteristics in 11 patients. Sacroiliitis, osteomyelitis of' vertebrae and ilium, sclerosing osteitis, ostearthritis of hand could be seen in some cases. (authors)

  19. Acute respiratory distress syndrome (ARDS): HRCT findings in survivors

    International Nuclear Information System (INIS)

    Jung, Jung Im; Park, Seog Hee; Lee, Jae Mun; Song, Jeong Sup; Lee, Kyo Young

    1999-01-01

    The purpose of this report is to describe the high-resolution computed tomography (HRCT) findings of the lung in survivors of acute respiratory distress syndrome (ARDS). Among eleven patients who survived ARDS for one year, chest radiography and HRCT revealed pulmonary fibrosis in four. Causes of ARDS included pneumonia during pregnancy, near drowning, pneumonia during liver cirrhosis, and postoperative sepsis. Thoracoscopic biopsy and histopathologic correlation were available in one patient. HRCT showed diffuse interlobular septal thickening, ground glass opacity, parenchymal distortion, and traction bronchiectasis. Fuzzy centrilobular nodules were seen in two patients and one patient had multiple, large bullae in the left hemithorax. In all patients, lesions affected the upper and anterior zones of the lung more prominently. The distribution of pulmonary fibrosis was characteristic and reflected the pathogenesis of lung injury; fibrosis was largely due to hyperoxia caused by ventilator care. In one patient, histopathologic correlation showed that imaging findings were accounted for by thickening of the alveolar septum along with infiltration of chronic inflammatory cells and fibrosis. Fuzzy centrilobular nodules corresponded with bronchiolitis

  20. Acute respiratory distress syndrome (ARDS): HRCT findings in survivors

    Energy Technology Data Exchange (ETDEWEB)

    Jung, Jung Im; Park, Seog Hee; Lee, Jae Mun; Song, Jeong Sup; Lee, Kyo Young [The Catholic Univ. College of Medicine, Seoul (Korea, Republic of)

    1999-08-01

    The purpose of this report is to describe the high-resolution computed tomography (HRCT) findings of the lung in survivors of acute respiratory distress syndrome (ARDS). Among eleven patients who survived ARDS for one year, chest radiography and HRCT revealed pulmonary fibrosis in four. Causes of ARDS included pneumonia during pregnancy, near drowning, pneumonia during liver cirrhosis, and postoperative sepsis. Thoracoscopic biopsy and histopathologic correlation were available in one patient. HRCT showed diffuse interlobular septal thickening, ground glass opacity, parenchymal distortion, and traction bronchiectasis. Fuzzy centrilobular nodules were seen in two patients and one patient had multiple, large bullae in the left hemithorax. In all patients, lesions affected the upper and anterior zones of the lung more prominently. The distribution of pulmonary fibrosis was characteristic and reflected the pathogenesis of lung injury; fibrosis was largely due to hyperoxia caused by ventilator care. In one patient, histopathologic correlation showed that imaging findings were accounted for by thickening of the alveolar septum along with infiltration of chronic inflammatory cells and fibrosis. Fuzzy centrilobular nodules corresponded with bronchiolitis.

  1. Clinical and MR findings of tethered cord syndrome

    International Nuclear Information System (INIS)

    Chung, Ho In; Kim, Hyae Young; Chung, Eun Chul; Suh, Jeong Soo; Lim, Hyo Keun; Lee, Seoung Ro; Lee, Young Seok

    1994-01-01

    Tethered cord syndrome(TCS)is defined as low position of the conus medullaris by the abnormally fixed spinal cord with progressive neurologic deficit. To evaluate the findings of TCS at MRI and its diagnostic value, we performed a retrospective analysis of MRI of 30 patients with emphasis on clinical manifestation, level of conus medullaris, cause of tethering, and associated findings. Clinical presentation included back mass(26 cases), neurogenic bladder(5 cases), urinary incontinences(5 cases), progressive constipation(2 cases), skin dimpling(1 case), gait disturbance(1 case) and club foot (1 case). Neurologic deficit was developed 11 cases(40%) and mean age of these patients at the time of diagnosis was 8.6 years. The most common cause of tethering was lipoma(63%). The tips of conus medullaris were below the level of the second lumbar spine ia all patients. The causes of tethering were lipomatous components(spinal lipoma and lipomyelomenigocele) in 67% myelomeningocele in 20%, presacral mass in 7%, thickened filum terminale in 3% and postoperative change in 3%. Associated anomalies included syringomyelia(20%) and hydrocephalus was associated in 3 out 5 patients who underwent brain MRI. MRI clearly delineated the location of conus, tethering of the filum terminate with their causes and associated abnormalities. MRI examination is a very useful diagnostic tool for the early evaluation of TCS and the postoperative follow up

  2. Overload syndromes of the knee in adolescents: Sonographic findings

    Science.gov (United States)

    Draghi, F.; Danesino, G.M.; Coscia, D.; Precerutti, M.; Pagani, C.

    2008-01-01

    Overload syndromes are caused by repetitive microtrauma, and the knee joint is most frequently affected in adolescents. The reason for this is that the knee joint is engaged in almost all sports activities. Pathologies related to the anterior aspect of the knee are: femoropatellar pain, jumper's knee syndromes, Osgood–Schlatter disease, Sinding-Larsen–Johansson syndrome and patellar stress fractures; to the medial aspect: semimembranous tendon enthesopathy and pes anserinus bursitis; to the lateral aspect: iliotibial band syndrome (runner's knee), popliteus and femoral biceps tendon enthesopathy; to the posterior aspect: fabella syndrome and medial gastrocnemius muscle tendon enthesopathy. Sonography plays a central role in the diagnosis and can also evaluate the evolution of diseases. This method is well accepted by the patients and by their parents, it does not involve exposure to X-rays and it is inexpensive. US imaging should, therefore, be considered a first-line imaging diagnostic technique in functional overuse syndromes of the knee. PMID:23396316

  3. Electrophysiolocal findings in Mohr-Tranebjærg syndrome

    Directory of Open Access Journals (Sweden)

    Regina Halfeld Furtado de Mendonça

    2015-04-01

    Full Text Available Mohr-Tranebjærg syndrome (MTS is an X-liked recessive rare syndrome also known as deafness-dystonia syndrome. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes they are accompanied by cortical deterioration of vision and mental deterioration. The purpose of this paper is to illustrate a very interesting case of Mohr-Tranebjærg syndrome. A 24-year-old italian man with Mohr-Tranebjærg syndrome underwent full field electroretinography (ERG and visual evoked potentials (VEPs. Fundus examination showed apparently normal retina with pallor of the optic disc. Pattern reversal VEP and flash VEP responses were non-recordable. ERG showed amplitude reduction of the fotopic, scotopic and 30 Hz flicker responses revealing generalized retinal dysfunction with reduction of cone and rod responses. The progressive neurodegeneration in Mohr-Tranebjærg syndrome can be also associated with a retinal degeneration.

  4. An incidental coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome with pelvic ectopic kidney and perirenal endometrioma

    International Nuclear Information System (INIS)

    Balci, O.; Karatayli, R.; Capar, M.

    2008-01-01

    In this case report, Mayer-Rokitansky-Kuster-Hauser syndrome with pelvic ectopic kidney and a perirenal cyst with endometrial tissue inside is demonstrated. A 17 year old patient admitted with primary amenorrhea. Pubertal stages were completed. In pelvic ultrasonography; uterus could not be detected, a 6x11 cm sized cystic lesion was seen on the right adnexal area. A centrally located 5.5x9 cm sized ectopic pelvic kidney was detected. Hormones and tumor markers were normal. Laparoscopy was planned. In the laparoscopic observation, uterus and both tubes could not be detected, ovaries were normal. There was a 6x7 cm sized cyst located in the retroperitoneal area, the origin of cyst could not be identified. Laparatomy was considered, retroperitoneal space was entered, an 8x11 sized smooth contoured perirenal cyst adjacent to the pelvic kidney was detected. Cyst was extirpated. The pathology result was reported to include endometrial tissue and hemorrhage inside. (author)

  5. Insomnia is a frequent finding in adults with Asperger syndrome

    OpenAIRE

    Tani, Pekka; Lindberg, Nina; Nieminen-von Wendt, Taina; von Wendt, Lennart; Alanko, Lauri; Appelberg, Björn; Porkka-Heiskanen, Tarja

    2003-01-01

    Abstract Background Asperger syndrome (AS) is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable th...

  6. Frank-ter Haar syndrome--additional findings?

    Science.gov (United States)

    Köse, Taha Emre; İşler, Cemil; Şenel, Ş Neslihan; Şitilci, Tolga; Özcan, İlknur; Aksakallı, Nihan

    2016-01-01

    Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a prominent coccyx, heart defects, developmental delays, brachycephaly, a wide anterior fontanel, finger flexion deformities, full cheeks and micrognathia. Dentomaxillofacial features of this syndrome are not well documented in the literature. We present of a 21-year-old male with Frank-ter Haar syndrome and some features that may be linked with this syndrome not reported before in the literature.

  7. Audiological and vestibular findings in the Kabuki syndrome.

    Science.gov (United States)

    Barozzi, S; Di Berardino, F; Atzeri, F; Filipponi, E; Cerutti, M; Selicorni, A; Cesarani, A

    2009-02-01

    Since the first description of Kabuki syndrome (KS) in 1981, over 350 cases from a variety of countries have been reported. Even though otolaryngological manifestations are common in KS, only a limited number of the reports provide audiological and vestibular data. The aim of the present study was to investigate the vestibular function and describe the audiological findings in KS. The present study reports no audiological and vestibular features in a group of 10 KS patients (7 males, 3 females), with chronological age ranging from 10 to 25 years (mean age = 14.5): a complete otoneurological and audiological work-up was performed for each patient and included where possible, the measurement of vestibular evoked potentials, caloric tests and static posturography. Hearing loss was found in 65% showing a mix or a conductive impairment; moreover the vestibular function was normal in 95% of the examined ears. In conclusion, audiological and vestibular examination should be considered when evaluating KS subjects. (c) 2009 Wiley-Liss, Inc.

  8. Brain CT and MRI findings in fat embolism syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Suzuki, Shin; Hayashi, Takaki; Ri, Kyoshichi [Showa Univ., Tokyo (Japan). School of Medicine] [and others

    1996-05-01

    To elucidate brain CT and MRI findings in fat embolism syndrome (FES), we retrospectively analyzed images from 5 patients with FES during the acute and subacute stages. Brain CT examinations demonstrated brain edema in 2 patients and transient spotty low density lesions in 2 patients. Three patients showed no abnormalities. Brain MRI, however, showed brain abnormalities in all patients during the acute stages. These were revealed as spotty high signal intensity lesions on T2WI, and some showed low intensity on T1WI. These spotty lesions were considered to reflect edematous fluid occurring as a result of the unique pathophysiological condition of FES. While the spotty high signal intensity lesions on T2WI were distributed in the cerebrum, cerebellum, brain stem, thalamus, basal ganglia, internal capsule and corpus callosum, cerebral and cerebellar spotty lesions were characteristically located along the boundary zones of the major vascular territories. This characteristic location might be induced by a hypoxic brain condition in FES because the numerous fat globules present in this condition can block entire brain capillaries. This characteristic signal location on T2WI is a useful indicator for differentiating FES from the primary intra-axial brain injury in patients with multifocal trauma. (author)

  9. Solitary rectal ulcer syndrome: clinical findings, surgical treatment, and outcomes.

    Science.gov (United States)

    Torres, Carlos; Khaikin, Marat; Bracho, Jorge; Luo, Cheng Hua; Weiss, Eric G; Sands, Dana R; Cera, Susan; Nogueras, Juan J; Wexner, Steven D

    2007-11-01

    Solitary rectal ulcer syndrome (SRUS) is a rare disorder often misdiagnosed as a malignant ulcer. Histopathological features of SRUS are characteristic and pathognomonic; nevertheless, the endoscopic and clinical presentations may be confusing. The aim of the present study was to assess the clinical findings, surgical treatment, and outcomes in patients who suffer from SRUS. A retrospective chart review was undertaken, from January 1989 to May 2005 for all patients who were diagnosed with SRUS. Data recorded included: patient's age, gender, clinical presentation, past surgical history, diagnostic and preoperative workup, operative procedure, complications, and outcomes. During the study period, 23 patients were diagnosed with SRUS. Seven patients received only medical treatment, and in three patients, the ulcer healed after medical treatment. Sixteen patients underwent surgical treatment. In four patients, the symptoms persisted after surgery. Two patients presented with postoperative rectal bleeding requiring surgical intervention. Three patients developed late postoperative sexual dysfunction. One patient continued suffering from rectal pain after a colostomy was constructed. Median follow-up was 14 (range 2-84) months. The results of this study show clearly that every patient with SRUS must be assessed individually. Initial treatment should include conservative measures. In patients with refractory symptoms, surgical treatment should be considered. Results of anterior resection and protocolectomy are satisfactory for solitary rectal ulcer.

  10. Brain CT and MRI findings in fat embolism syndrome

    International Nuclear Information System (INIS)

    Suzuki, Shin; Hayashi, Takaki; Ri, Kyoshichi

    1996-01-01

    To elucidate brain CT and MRI findings in fat embolism syndrome (FES), we retrospectively analyzed images from 5 patients with FES during the acute and subacute stages. Brain CT examinations demonstrated brain edema in 2 patients and transient spotty low density lesions in 2 patients. Three patients showed no abnormalities. Brain MRI, however, showed brain abnormalities in all patients during the acute stages. These were revealed as spotty high signal intensity lesions on T2WI, and some showed low intensity on T1WI. These spotty lesions were considered to reflect edematous fluid occurring as a result of the unique pathophysiological condition of FES. While the spotty high signal intensity lesions on T2WI were distributed in the cerebrum, cerebellum, brain stem, thalamus, basal ganglia, internal capsule and corpus callosum, cerebral and cerebellar spotty lesions were characteristically located along the boundary zones of the major vascular territories. This characteristic location might be induced by a hypoxic brain condition in FES because the numerous fat globules present in this condition can block entire brain capillaries. This characteristic signal location on T2WI is a useful indicator for differentiating FES from the primary intra-axial brain injury in patients with multifocal trauma. (author)

  11. Nephrocalcinosis and Placental Findings in Neonatal Bartter Syndrome

    Directory of Open Access Journals (Sweden)

    Hidehiko Maruyama

    2013-05-01

    Full Text Available Neonatal Bartter syndrome (NBS is an inherited renal tubular disorder associated with hypokalemic alkalosis. Here we report a case of genetically diagnosed NBS. Polyhydramnios was noted at 26 weeks. A boy was born at 31 weeks and 1 day, weighed 1344 g, and had an Apgar score of 8/8. We initiated indomethacin (IND at a dose of 0.2 mg/kg/d on day 31, and increased it to approximately 3 mg/kg/d. However, his urinary calcium (Ca levels remained unchanged. At 4 months of age, nephrocalcinosis was detected by ultrasound. The placenta weighed 700 g (+2.7 standard deviations. Although the proportion of terminal villi was consistent with the gestational age, many of them exhibited poorly dilated capillaries. Hemosiderin pigment was seen throughout the amniochorionic connective tissue and along about 50% of the trophoblast basement membrane (TBM. Von Kossa stain revealed the corresponding area of mineralization along the TBM. In our opinion, urinary Ca levels were high and did not change after IND initiation, indicating that nephrocalcinosis may be inevitable. Enhanced inflow of maternal plasma through the basement membrane would cause Ca deposition, given that the same finding was obtained in the case with polyhydramnios. The same mechanism would also explain the hemosiderin pigment distribution.

  12. Ultrasonographic Findings of the Ulnar Nerves in Cubital Tunnel Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Koh, Young Hwan; Chai, Jee Won; Chung, Se Yeong; Choi, Young Ho; Cha, Joo Hee [Seoul Municipal Boramae Hospital, Seoul (Korea, Republic of)

    2010-06-15

    To determine useful diagnostic criteria of cubital tunnel syndrome (CTS), using ultrasonographic ulnar nerve cross-sectional areas (UNCSA) measurements. The CTS group included 28 patients confirmed with nerve conduction study and the control group included 17 healthy adults. Ulnar nerve cross sectional areas (UNCSA) were measured at the distal 1/3 upper arm level and in the cubital tunnel (CTN). US findings of CTS were ulnar nerve dislocation (n = 2), ulnar nerve subluxation (n = 5), ganglion (n = 1), sever elbow joint osteoarthritis (n = 1) and elbow joint valgus deformity after fracture (n = 1). UNCSA, the ratio of UNCSA in CTN to distal 1/3 upper arm level (CH ratio), and the difference of UNCSA between CTN and distal 1/3 upper arm level (CH difference) were evaluated to obtain the optimal diagnostic cutoff value of CTS, using ROC curve. The mean UNCSA in CTN was 0.168 cm2 in the CTS and 0.067 cm2 in the control. The CTS could be diagnosed when UNCSA, the CH ratio and the CH difference are larger than 0.096 cm2, 1.371 and 0.036 cm2 respectively. The ROC curve area was largest and the sensitivity, specificity was respectively 82.4%, 95.8%, when the CH difference was used as cutoff value. Ultrasound is useful for the detection of CTS pathogenic lesions in CTN. The highest diagnostic accuracy was acquired when the CH difference is larger than 0.036 cm2

  13. Incidental Vocabulary Learning in Second Language Acquisition: A Literature Review

    Directory of Open Access Journals (Sweden)

    Falcon Dario Restrepo Ramos

    2015-01-01

    Full Text Available This literature review aims to analyze previous studies that address the incidental learning of vocabulary in second language acquisition. The articles included in this literature review look into the understanding of vocabulary learning through incidental means, the relationship of reading and incidental vocabulary learning, and the strategies and tasks that promote the incidental learning of vocabulary. The findings show that L2 learners develop much of their vocabulary by incidental means through exposure to words in informative contexts. Moreover, this exposure is promoted by reading, and enhanced through multimodal glosses. Further research may focus on listening for higher lexical retention rates, the circumstances that allow incidental learning of multi-word phrases and collocations, and the use of technology-based methods for incidental vocabulary acquisition.

  14. Anterior Segment Findings in Women with Polycystic Ovary Syndrome

    Directory of Open Access Journals (Sweden)

    Seda Karaca Adıyeke

    2017-01-01

    Full Text Available Objectives: This study aimed to investigate the anterior segment in women with polycystic ovary syndrome (PCOS and to compare them with those of healthy reproductive-age female volunteers. Materials and Methods: The study included 50 right eyes of 50 women with PCOS (group 1 and 50 right eyes of 50 healthy women (group 2. Intraocular pressure, Schirmer’s test, tear film break-up time and central corneal thickness were evaluated in all subjects. Correlations between serum hormone (estradiol and testosterone levels and observed findings were also investigated. Results: Mean central corneal thickness values were significantly higher in the PCOS group (p=0.001. The mean intraocular pressures values were similar between the two groups (p=0.560. Schirmer’s test results and tear film break-up time values were significantly lower in the PCOS group (p=0.001 and p=0.001 respectively. Serum estradiol levels were moderately positively correlated with mean central corneal thickness (r=0.552, weakly positively correlated with intraocular pressure (r=0.351 and weakly negatively correlated with tear film break-up time (r=-0.393. Serum free testosterone levels were weakly correlated with intraocular pressure (r=0.342 and central corneal thickness (r=0.303, and showed weak negative correlations with Schirmer’s test results (r=-0.562 and tear film break-up time (r=-0.502. Conclusion: PCOS leads to physiological and structural changes in the eye. Dry eye symptoms were more severe and central corneal thickness measurements were greater in patients with PCOS. Those are correlated serum testosterone and estradiol levels.

  15. Implications of the Incidental Finding of a MYCN Amplified Adrenal Tumor: A Case Report and Update of a Pediatric Disease Diagnosed in Adults

    Directory of Open Access Journals (Sweden)

    Anna Koumarianou

    2013-01-01

    Full Text Available MYCN is a well-known oncogene overexpressed in different human malignancies including neuroblastoma, rhabdomyosarcoma, medulloblastoma, astrocytoma, Wilms’ tumor, and small cell lung cancer. While neuroblastoma is one of the most common childhood malignancies, in adults it is extremely rare and its treatment is based on pediatric protocols that take into consideration stage and genotypic features, such as MYCN amplification. Although neuroblastoma therapy has evolved, identification of early stage patients who need chemotherapy continues to pose a therapeutic challenge. The emerging prognostic role of MYCN phenotype of this disease is currently under investigation as it may redefine MYCN amplified subgroups. We describe an unusual case of adult neuroblastoma with MYCN amplification diagnosed incidentally and discuss possible therapeutic dilemmas.

  16. Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Koch, Bernadette; Egelhoff, John; Benton, Corning [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati (United States); Goold, Amy [Tripler Army Medical Center, Family Practice, Honolulu, HI (United States)

    2006-09-15

    We report a case of bilateral partial absence of the posterior semicircular canals (with normal lateral semicircular canals) imaged with CT in a patient with Alagille syndrome. Similar histologic findings have been reported in the pathology literature. This association has been previously reported only for Waardenburg syndrome in the imaging literature. We review the imaging findings and embryology of the semicircular canals, and suggest that this abnormality is specific to patients with Alagille or Waardenburg syndrome. (orig.)

  17. Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings

    International Nuclear Information System (INIS)

    Koch, Bernadette; Egelhoff, John; Benton, Corning; Goold, Amy

    2006-01-01

    We report a case of bilateral partial absence of the posterior semicircular canals (with normal lateral semicircular canals) imaged with CT in a patient with Alagille syndrome. Similar histologic findings have been reported in the pathology literature. This association has been previously reported only for Waardenburg syndrome in the imaging literature. We review the imaging findings and embryology of the semicircular canals, and suggest that this abnormality is specific to patients with Alagille or Waardenburg syndrome. (orig.)

  18. Mazabraud's syndrome. New clinical case and review of findings.

    Science.gov (United States)

    Ramírez Mejía, Alex Roberto; Moreno Casado, María José; Ahumada Pavez, Nicolás Rodrigo; Rojas Soldado, María Ángeles

    Intramuscular myxomas are benign and rare tumors that affects predominantly the lower limbs. The association of myxomas and fibrous dysplasia, usually polyostotic, is rarer. This association is known as Mazabraud's syndrome, of which about 81 cases have been described in the literature. We present a new case of this uncommon association to emphasise the importance of recognizing this syndrome in the diagnosis and appropriate management of the patient. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  19. Ellis-van Creveld Syndrome: Systemic And Oral Findings

    OpenAIRE

    Paranaiba L.M.R.; Fernandes C.M.; de Aquino S.N.; dos Santos L.A.N.; Martelli-Junior H.

    2012-01-01

    Aims: To present a case of Ellis-van Creveld syndrome highlighting the systemic and oral manifestations and expand the phenotypic spectrum of the disorder. Case description: A 4-year-old female, with an initial diagnosis of Ellis-van Creveld syndrome, was referred for dental treatment. The patient had hexadactyly of the hands, thorax disproportionate to the shortened limbs, hypopigmented and dry skin, short stature, a wide gap between the 1st and 2nd toes of the right foot and markedly dystro...

  20. Spontaneous intracranial hypotension syndrome: magnetic resonance findings in two patients

    International Nuclear Information System (INIS)

    Ortega, R.; Pastor, J.; Escamilla, F.; Romero, M. I.

    1999-01-01

    The postural headache syndrome associated with a decrease in the cerebrospinal fluid (CSF) pressure is generally secondary to the CSF leakage that usually occurs after diagnostic lumbar puncture. Spontaneous intracranial hypotension can not be attributed to any known cause or previous diagnostic or therapeutic intervention. The syndrome is characterized by severe headache that is relieved by lying supine. During lumbar puncture, the CSF pressure is normally low. We present two patients in whom gadolinium-enhanced magnetic resonance imaging showed widespread thickening and enhancement of the dura mater and subdural fluid collections. (Author) 13 refs

  1. Spontaneous esophageal rupture - Boerhaave's syndrome: Clinical symptoms and radiographic findings

    International Nuclear Information System (INIS)

    Gaa, J.; Deininger, H.K.

    1989-01-01

    Spontaneous transmural rupture of the esophagus (Boerhaave's syndrome) is a life-threatening emergency. Prompt diagnosis is essential to a better prognosis, successful operative outcome and patient survival. The chest roentgenogram and the contrast esophagograms to follow are the most helpful diagnostic tests. The clinical manifestations are variable and may be misleading and thus delay accurate recognition. In our case report the major clinical features and radiological signs of Boerhaave's syndrome are described. The pathogenesis, characteristic clinical symptoms and the signs and radiological evaluation are reviewed. (orig.) [de

  2. Achado incidental de glândula sebácea em colo uterino: provavelmente um processo metaplásico An incidental finding of sebaceous glands in the uterine cervix: a probable metaplastic process

    Directory of Open Access Journals (Sweden)

    Daniel Cury Ogata

    2012-06-01

    Full Text Available As glândulas sebáceas ectópicas são achados muito infrequentes no trato genital feminino. Descrevemos um caso que ocorreu em paciente de 42 anos de idade, submetida à histerectomia total, devido à leiomiomatose e ao prolapso uterino.The ectopic sebaceous glands have been extremely rare findings in female genital system. We describe the case of 42 years-old patient with total hysterectomy due to leiomyomatosis and uterine prolapsed.

  3. Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities

    Directory of Open Access Journals (Sweden)

    Hassan Hashemi

    2017-01-01

    Full Text Available The hyperimmunoglobulin E syndromes (HIESs are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. HIES are characterized by the classic triad of high serum levels of immunoglobulin E (IgE, recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. A fundamental immunologic defect in HIES is not clearly elucidated but abnormal neutrophil chemotaxis due to decreased production or secretion of interferon γ has main role in the immunopathogenesis of syndrome, also distorted Th1/Th2 cytokine profile toward a Th2 bias contributes to the impaired cellular immunity and a specific pattern of infection susceptibility as well as atopic-allergic constitution of syndrome. The ophthalmic manifestations of this disorder include conjunctivitis, keratitis, spontaneous corneal perforation, recurrent giant chalazia, extensive xanthelasma, tumors of the eyelid, strabismus, and bilateral keratoconus. The diagnosis of HIES is inconclusive, dependent on the evolution of a constellation of complex multisystemic symptoms and signs which develop over the years. Until time, no treatment modality is curative for basic defect in HIES, in terms of cytokines/chemokines derangement. Of note, bone marrow transplant and a monoclonal anti-IgE (omalizumab are hoped to be successful treatment in future.

  4. Clinical, paraclinical and serological findings in Susac syndrome

    DEFF Research Database (Denmark)

    Jarius, Sven; Kleffner, Ilka; Dörr, Jan M

    2014-01-01

    BACKGROUND: Susac syndrome (SuS) is a rare disorder thought to be caused by autoimmune-mediated occlusions of microvessels in the brain, retina and inner ear leading to central nervous system (CNS) dysfunction, visual disturbances due to branch retinal artery occlusions (BRAO), and hearing defici...

  5. Postnatal cranial ultrasonographic findings in feto-fetal transfusion syndrome.

    NARCIS (Netherlands)

    Breysem, L.; Naulaers, G.; Deprest, J.; Schoubroeck, D.V.; Daniels, H.; Lammens, M.M.Y.; Smet, M.H.

    2002-01-01

    Our objective was a retrospective evaluation of cranial US in survivors of twin pregnancy with feto-fetal transfusion syndrome (FFTS), with knowledge of prenatal treatment and neonatal/postnatal clinical data. In 18 pregnancies with FFTS (January 1996 to May 2000), pregnancy management and outcome,

  6. Turner Syndrome: Neuroimaging Findings--Structural and Functional

    Science.gov (United States)

    Mullaney, Ronan; Murphy, Declan

    2009-01-01

    Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including…

  7. Mounier-Kuhn syndrome: radiological findings and clinical presentation

    Energy Technology Data Exchange (ETDEWEB)

    Bastos, Andrea de Lima [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Unidade de Diagnostico por Imagem; Brito, Isabela Lage Alves, E-mail: andblima@yahoo.com.b [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Dept. de Pneumologia

    2011-05-15

    Mounier-Kuhn syndrome is a rare disease clinically characterized by recurrent respiratory infections. The present report describes a case of this disease with analysis of chest radiography and high resolution computed tomography showing increased caliber of the trachea, main bronchi and central bronchiectasis. Such changes, in association with clinical data, suggest the diagnosis. (author)

  8. Langerhans cell histiocytosis associated with lymphoma: an incidental finding that is not associated with BRAF or MAP2K1 mutations.

    Science.gov (United States)

    Pina-Oviedo, Sergio; Medeiros, L Jeffrey; Li, Shaoying; Khoury, Joseph D; Patel, Keyur P; Alayed, Khaled; Cason, R Craig; Bowman, Christopher J; Yin, C Cameron

    2017-05-01

    Langerhans cell histiocytosis is characterized by a localized or systemic proliferation of Langerhans cells. BRAF mutations have been reported in 40-70% of cases and MAP2K1 mutations have been found in BRAF-negative cases, supporting that Langerhans cell histiocytosis is a true neoplasm, at least in mutated cases. In a small subset of patients, Langerhans cell histiocytosis is detected incidentally in a biopsy involved by lymphoma. These lesions are usually minute and rarely have been assessed for mutations. We assessed for BRAF and MAP2K1 mutations in seven cases of Langerhans cell histiocytosis detected incidentally in biopsies involved by lymphoma. We performed immunohistochemical analysis for phosphorylated (p)-ERK. There were four men and three women (median age, 54 years; range, 28-84). The biopsies included lymph nodes (n=6) and chest wall (n=1). The lymphomas included five classical Hodgkin lymphoma, one mantle cell lymphoma, and one angioimmunoblastic T-cell lymphoma. All cases were negative for BRAF V600E and MAP2K1 mutations. Nevertheless, three of seven cases showed ERK activation as shown by expression of p-ERK. We performed mutation analysis using a panel of 134 commonly mutated genes (including BRAF and MAP2K1) by next-generation sequencing on three cases, including two cases positive for p-ERK by immunohistochemistry. No mutations were detected in any of the three cases assessed. Six patients received therapy appropriate for their lymphoma. With a median follow-up of 21 months (range, 6-89), no patients developed disseminated or recurrent Langerhans cell histiocytosis. We conclude that lymphoma-associated Langerhans cell histiocytosis is a clinically benign process that is not associated with BRAF V600E or MAP2K1 mutations and, as suggested by others, the designation Langerhans cell hyperplasia may be more appropriate. Nevertheless, the expression of p-ERK in three cases suggests that the RAS-RAF-MAP2K-ERK pathway is activated, perhaps by non

  9. Incidental renal neoplasms

    DEFF Research Database (Denmark)

    Rabjerg, Maj; Mikkelsen, Minne Nedergaard; Walter, Steen

    2014-01-01

    On the basis of associations between tumor size, pathological stage, histological subtype and tumor grade in incidentally detected renal cell carcinoma vs symptomatic renal cell carcinoma, we discussed the need for a screening program of renal cell carcinoma in Denmark. We analyzed a consecutive...... series of 204 patients with renal tumors in 2011 and 2012. The tumors were classified according to detection mode: symptomatic and incidental and compared to pathological parameters. Eighty-nine patients (44%) were symptomatic, 113 (55%) were incidental. Information was not available in two patients...

  10. Mortality and pathological findings in C (Opitz trigonocephaly) syndrome.

    Science.gov (United States)

    Opitz, John M; Putnam, Angelica R; Comstock, Jessica M; Chin, Steven; Byrne, Janice L B; Kennedy, Anne; Frikke, Maureen J; Bernard, Chantal; Albrecht, Steffen; Der Kaloustian, Vazken; Szakacs, Juliana G

    2006-01-01

    Even as a rare multiple congenital anomalies/mental retardation syndrome, the C-syndrome (CS, or Opitz C-trigonoecephaly syndrome) is, at long last, beginning to attract attention because of its developmental and causal complexity. Also, the possibility that the apparently balanced translocation recently described in an affected Japanese boy may soon provide a molecular/causal insight into this disorder. The manifestations recorded in the previously published patients, those autopsied within recent years, and the unpublished instances in our files suggest that the CS is a heterogeneous genetic disorder, predominantly sporadic but with sufficient familial cases (at times with consanguinity) to allow postulation of an entity due to autosomal dominant mutations with a high rate of germinal mosaicism, or due to both autosomal dominant mutations and an autosomal recessive genocopy. In any event, elucidation of cause and pathogenesis of CS will, in due time, shed light on its developmental pleiotropy, rarity in liveborn infants, prevalence in stillborn fetuses, recurrence risk in humans, and occurrence in other animals (e.g., mice) to further understanding of pathogenesis.

  11. Atypical findings of guillain-barré syndrome in children.

    Science.gov (United States)

    Karimzadeh, Parvaneh; Bakhshandeh Bali, Mohammad Kazem; Nasehi, Mohammad Mehdi; Taheri Otaghsara, Seyyed Mohaddeseh; Ghofrani, Mohammad

    2012-01-01

    Guillain-Barre syndrome (GBS) is an immune-mediated polyneuropathy that occurs mostly after prior infection. The diagnosis of this syndrome is dependent heavily on the history and examination, although cerebrospinal fluid analysis and electrodiagnostic testing usually confirm the diagnosis. This is a retrospective study which was performed to investigate the atypical features of GBS. Thirty three patients (21/63.6% males and 12/36.4% females) with GBS were retrospectively studied and prospectively evaluated at the Child Neurology institute of Mofid Children Hospital of Shahid Beheshti University of Medical Sciences between May 2011 and September 2012. The mean age was 5.4 years (range, 1.5-10.5).Twenty one patients (87.9%) had previous history of infections. Eight patients (24.2%) admitted with atypical symptoms like upper limb weakness (3%), ptosis (3%), neck stiffness (3%), inability to stand (proximal weakness) (9.1%), headache (3%) and dysphagia (3%).According to disease process, weakness was ascending in 26 (78.8%), descending in 5 (15.2%) and static in 2 (6.1%) patients. Cranial nerve involvement was found in 8(24.3%) children, most commonly as facial palsy in 3 (9.1%). In this study, 24.3% of our patients presented with atypical symptoms of GBS as upper limb weakness, ptosis, neck stiffness, inability to stand (proximal weakness), headache and dysphagia.

  12. Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia

    Science.gov (United States)

    Lin, Angela E.; O’Brien, Barbara; Demmer, Laurie A.; Almeda, Kristina K.; Blanco, Cynthia L.; Glasow, Patrick F.; Berul, Charles I.; Hamilton, Robert; Innes, A. Micheil; Lauzon, Julie L.; Sol-Church, Katia; Gripp, Karen W.

    2015-01-01

    Objective Delineate prenatal features of Costello syndrome (caused by HRAS mutations) which consists of mental retardation, facial, cardiovascular, skin, and musculoskeletal anomalies, and tumor predisposition. Methods Literature and new cases classified as Group I (pre-HRAS), Group II (HRAS confirmed), and Group III (HRAS confirmed in natural history study, plus three contributed cases). Results Polyhydramnios occurred in most (mean 79%) pregnancies of cases in Groups I (98), II (107), and III (17), advanced paternal age and prematurity were noted in approximately half. Less frequent were nuchal thickening, ascites, shortened long bones, abnormal hand posture, ventriculomegaly, macrosomia, and macrocephaly. Fetal arrhythmia occurred in 9 cases (6 supraventricular or unspecified tachycardia, 1 unspecified arrhythmia, 2 premature atrial contractions, PACs); excluding 3 new cases and 2 with PACs, the estimated prenatal frequency is 4/222 (2%). Conclusion Costello syndrome can be suspected prenatally when polyhydramnios is accompanied by nuchal thickening, hydrops, shortened long bones, abnormal hand posture, ventriculomegaly, large size, and macrocephaly, and especially fetal atrial tachycardia. Consideration should be given for timely prenatal diagnostic studies for confirmative HRAS gene mutations, and for maternal treatment of serious fetal arrhythmia. PMID:19382114

  13. Insomnia is a frequent finding in adults with Asperger syndrome

    Science.gov (United States)

    Tani, Pekka; Lindberg, Nina; Nieminen-von Wendt, Taina; von Wendt, Lennart; Alanko, Lauri; Appelberg, Björn; Porkka-Heiskanen, Tarja

    2003-01-01

    Background Asperger syndrome (AS) is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable that sleep difficulties are present in adulthood as well. Our hypothesis was that adults with AS suffer from difficulty in initiating and maintaining sleep and nonrestorative sleep (insomnia). Methods 20 AS without medication were compared with 10 healthy controls devoid of neuropsychiatric anamnesis. Clinical examination, blood test battery and head MRI excluded confounding somatic illnesses. Structured psychiatric interview for axis-I and axis-II disorders were given to both groups as well as Beck Depression Inventory and Wechsler adult intelligence scale, revised version. Sleep quality was assessed with sleep questionnaire, sleep diary during 6 consecutive days and description of possible sleep problems by the participants own words was requested. Results compared with controls and with normative values of good sleep, AS adults had frequent insomnia. In sleep questionnaire 90% (18/20), in sleep diary 75% (15/20) and in free description 85% (17/20) displayed insomnia. There was a substantial psychiatric comorbidity with only 4 AS subject devoid of other axis-I or axis-II disorders besides AS. Also these persons displayed insomnia. It can be noted that the distribution of psychiatric diagnoses in AS subjects was virtually similar to that found among patient with chronic insomnia. Conclusions the neuropsychiatric deficits inherent of AS predispose both to insomnia and to anxiety and mood disorders. Therefore a careful assessment of sleep quality should be an integral part of the treatment

  14. Insomnia is a frequent finding in adults with Asperger syndrome

    Directory of Open Access Journals (Sweden)

    von Wendt Lennart

    2003-10-01

    Full Text Available Abstract Background Asperger syndrome (AS is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable that sleep difficulties are present in adulthood as well. Our hypothesis was that adults with AS suffer from difficulty in initiating and maintaining sleep and nonrestorative sleep (insomnia. Methods 20 AS without medication were compared with 10 healthy controls devoid of neuropsychiatric anamnesis. Clinical examination, blood test battery and head MRI excluded confounding somatic illnesses. Structured psychiatric interview for axis-I and axis-II disorders were given to both groups as well as Beck Depression Inventory and Wechsler adult intelligence scale, revised version. Sleep quality was assessed with sleep questionnaire, sleep diary during 6 consecutive days and description of possible sleep problems by the participants own words was requested. Results compared with controls and with normative values of good sleep, AS adults had frequent insomnia. In sleep questionnaire 90% (18/20, in sleep diary 75% (15/20 and in free description 85% (17/20 displayed insomnia. There was a substantial psychiatric comorbidity with only 4 AS subject devoid of other axis-I or axis-II disorders besides AS. Also these persons displayed insomnia. It can be noted that the distribution of psychiatric diagnoses in AS subjects was virtually similar to that found among patient with chronic insomnia. Conclusions the neuropsychiatric deficits inherent of AS predispose both to insomnia and to anxiety and mood disorders. Therefore a careful assessment of sleep quality should be an

  15. Finding FMR1 mosaicism in Fragile X syndrome.

    Science.gov (United States)

    Gonçalves, Thaís Fernandez; dos Santos, Jussara Mendonça; Gonçalves, Andressa Pereira; Tassone, Flora; Mendoza-Morales, Guadalupe; Ribeiro, Márcia Gonçalves; Kahn, Evelyn; Boy, Raquel; Pimentel, Márcia Mattos Gonçalves; Santos-Rebouças, Cíntia Barros

    2016-01-01

    Almost all patients with Fragile X Syndrome (FXS) exhibit a CGG repeat expansion (full mutation) in the Fragile Mental Retardation 1 gene (FMR1). Here, the authors report five unrelated males with FXS harboring a somatic full mutation/deletion mosaicism. Mutational profiles were only elucidated by using a combination of molecular approaches (CGG-based PCR, Sanger sequencing, MS-MLPA, Southern blot and mPCR). Four patients exhibited small deletions encompassing the CGG repeats tract and flanking regions, whereas the remaining had a larger deletion comprising at least exon 1 and part of intron 1 of FMR1 gene. The presence of a 2-3 base pairs microhomology in proximal and distal non-recurrent breakpoints without scars supports the involvement of microhomology mediated induced repair (MMBIR) mechanism in three small deletions. The authors data highlights the importance of using different research methods to elucidate atypical FXS mutational profiles, which are clinically undistinguishable and may have been underestimated.

  16. Oral and dental findings of griscelli syndrome type 3

    Directory of Open Access Journals (Sweden)

    Ozlem Marti Akgun

    2015-09-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can result from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3. [Arch Clin Exp Surg 2015; 4(3.000: 164-167

  17. Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

    Directory of Open Access Journals (Sweden)

    MARIE SUELY K.NAGAHASHI

    1999-01-01

    Full Text Available We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

  18. MRI and CT findings of adult Down's syndrome

    International Nuclear Information System (INIS)

    Murata, Tetsuhito; Koshino, Yoshifumi; Omori, Masao

    1993-01-01

    Cranial CT and MRI were performed in 29 adult patients with Down's syndrome aged from 20 to 46 years to examine early aging. Morphological changes with aging, such as brain atrophy and ventricular enlargement, were generally sparse; however, calculi of the basal nucleus and lesions of deep-seated white matter were significantly increased with aging. The pallidum and putamen were shown as low intensity signals on T2-weighted images in many of patients in their fourties, suggesting their involvement in the occurrence of dyskinesia and parkinsonism symptoms that are likely to occur in the elderly. Localized changes, as shown on CT and MRI, may reflect abnormally early occurrence of aging, which precedes morphological changes such as brain atrophy. (N.K.)

  19. Computed tomography findings in large vestibular aqueduct syndrome.

    Science.gov (United States)

    Ma, Xiufang; Yang, Ying; Xia, Ming; Li, Dumin; Xu, Anting

    2009-07-01

    Patients with large vestibular aqueduct syndrome (LVAS) have disturbed morphogenesis of bony labyrinth. Semicircular canal anomalies are common in LVAS. To describe the additional inner ear anomalies on CT imaging in pediatric patients with LVAS, and to investigate the lateral semicircular canal (LSCC) anomalies associated with LVAS by measurement of the LSCC bony island width. We retrospectively reviewed the digitally stored temporal bone CT imaging obtained for 23 patients with LVAS, additional inner ear anomalies were noted, and measurements of the LSCC bony island width were made on axial CT scans on the workstation. Measurements were compared to the normative data obtained from 20 patients without sensorineural hearing loss. Of the 23 patients (bilateral in 22 and unilateral in 1), additional inner ear malformations were identified in 21 cases presenting either singly or in combination. A small LSCC bony island (Mondini deformity was identified in 6 ears.

  20. Waardenburg syndrome with familial unilateral renal agenesis: a new syndrome variant?

    Science.gov (United States)

    Webb, Katie M; Smith, Alisha J; Dansby, Linda M; Diskin, Charles J

    2015-06-01

    A 64-year-old man with Waardenburg syndrome presented with anuria and was subsequently discovered by renal ultrasound to have unilateral renal agenesis. The patient is one of three generations with incidental finding of renal agenesis also marked by the presence of Waardenburg syndrome. To our knowledge, there has been no mention elsewhere in the scientific literature of a variant of Waardenburg syndrome with associated renal agenesis. © 2014 The Authors. Therapeutic Apheresis and Dialysis © 2014 International Society for Apheresis.

  1. Meckel Gruber Syndrome: Correlation Between Prenatal Diagnosis and Autopsy Findings

    Directory of Open Access Journals (Sweden)

    Hülya Akgün

    2008-04-01

    CONCLUSION: Ultrasonographic findings of MGS allow for diagnosis of the most cases. However autopsy may be valuable for confirmation of the diagnosis and to evaluate the recurrence risk in future pregnancies.

  2. Findings from the Peutz-Jeghers syndrome registry of uruguay.

    Directory of Open Access Journals (Sweden)

    Asadur Tchekmedyian

    Full Text Available BACKGROUND: Peutz-Jeghers syndrome (PJS is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data from all Uruguayan PJS patients. METHODS: Clinical data were obtained from public and private medical centers and updated annually. Sequencing of the STK11 gene in one member of each family was performed. RESULTS AND DISCUSSION: 25 cases in 11 unrelated families were registered (15 males, 10 females. The average age of diagnosis and death was 18 and 41 years respectively. All patients had characteristic PJS pigmentation and gastrointestinal polyps. 72% required urgent surgery due to intestinal obstruction. 3 families had multiple cases of seizure disorder, representing 20% of cases. 28% developed cancer and two patients had more than one cancer. An STK11 mutation was found in 8 of the 9 families analyzed. A unique M136K missense mutation was noted in one family. Comparing annual live births and PJS birth records from 1970 to 2009 yielded an incidence of 1 in 155,000. CONCLUSION: The Uruguayan Registry for Peutz-Jeghers patients showed a high chance of emergent surgery, epilepsy, cancer and shortened life expectancy. The M136K missense mutation is a newly reported STK 11 mutation.

  3. Audio-Vestibular Findings in Increased Intracranial Hypertension Syndrome.

    Science.gov (United States)

    Çoban, Kübra; Aydın, Erdinç; Özlüoğlu, Levent Naci

    2017-04-01

    Idiopathic intracranial hypertension (IIH) can be manifested by audiological and vestibular complaints. The aim of the present study is to determine the audio-vestibular pathologies and their pathophysiologies in this syndrome by performing current audio-vestibular tests. The study was performed prospectively on 40 individuals (20 IIH patients, 20 healthy volunteers). Pure tone audiometry, tympanometry, vestibular evoked myogenic potentials, and electronystagmography tests were performed in both groups and the results were compared. The mean age of both groups was found to be 30.2±18.7. There were 11 females and 9 males in each group. The study group patients had significantly worse hearing levels. Pure tone averages were significantly higher in both ears of the study group (pvestibular systems are frequently affected in this condition. Our test results suggest inner ear pathologies in these patients. Higher incidence of inferior vestibular nerve and/or saccule dysfunction is detected as a novelty. Increased intracranial pressure may affect the inner ear with similar mechanisms as in hydrops.

  4. Findings from the Peutz-Jeghers syndrome registry of Uruguay

    KAUST Repository

    Tchekmedyian, Asadur

    2013-11-19

    Background: Peutz-Jeghers syndrome (PJS) is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data from all Uruguayan PJS patients. Methods: Clinical data were obtained from public and private medical centers and updated annually. Sequencing of the STK11 gene in one member of each family was performed. Results and discussion: 25 cases in 11 unrelated families were registered (15 males, 10 females). The average age of diagnosis and death was 18 and 41 years respectively. All patients had characteristic PJS pigmentation and gastrointestinal polyps. 72% required urgent surgery due to intestinal obstruction. 3 families had multiple cases of seizure disorder, representing 20% of cases. 28% developed cancer and two patients had more than one cancer. An STK11 mutation was found in 8 of the 9 families analyzed. A unique M136K missense mutation was noted in one family. Comparing annual live births and PJS birth records from 1970 to 2009 yielded an incidence of 1 in 155,000. Conclusion: The Uruguayan Registry for Peutz-Jeghers patients showed a high chance of emergent surgery, epilepsy, cancer and shortened life expectancy. The M136K missense mutation is a newly reported STK 11 mutation. © 2013 Tchekmedyian et al.

  5. Crane. Incidental Classroom Instruction 20295

    Energy Technology Data Exchange (ETDEWEB)

    Reynolds, Richard Jennings [Los Alamos National Laboratory

    2016-04-01

    The purpose of this course is to introduce safe hoisting and rigging practices to personnel who are attempting to become LANL incidental crane operators and to review and refresh safe hoisting and rigging practices with existing incidental crane operators.

  6. The nailfold videocapillaroscopy findings of Behçet's syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Alan

    2016-06-01

    Conclusion: In this study, the BD group had significantly more capillaroscopic pathological findings than did the healthy control group. However, the detected capillaroscopic pathology rate in BD patients was significantly lower than that of three previously published studies. Further studies are needed to clarify the diagnostic and prognostic value of capillaroscopy in BD.

  7. Fraser syndrome: Phenotypic variability and unusual findings in four ...

    African Journals Online (AJOL)

    Nasal anomalies, sclerocornea and abnormal hair growth pattern were constant features observed in 100% of the cases. The frequency of additional anomalies in our series was also higher than those previously reported as umbilical abnormalities and contractures of large joints. Conclusion: In conclusion, our findings add ...

  8. Visceral bullae: A new finding in Bart's syndrome.

    Science.gov (United States)

    Akar, Melek; Erdeve, Omer; Gokmen, Tuiln; Oguz, Serife Suna; Dilmen, Ugur; Sirvan, Levent

    2010-01-01

    Congenital localized absence of the skin (CLAS) has been observed in various subsets of inherited epidermolysis bullosa (EB). Pyloric atresia (PA) is a rare disorder that is associated with EB. Here, we describe three preterm male infants with PA, CLAS, and EB at birth, one of whom had multiple bullae and erosions on the stomach and pericardium. To the best of our knowledge, this is the first report of findings regarding a PA-EB-CLAS association.

  9. Electrophysiological findings in patients with adult tethered cord syndrome.

    Science.gov (United States)

    Oz, Oguzhan; Ulas, Umit Hidir; Duz, Bulent; Yucel, Mehmet; Odabasi, Zeki

    2010-01-01

    This study was planned for detailed evaluation of electrophysiological findings in patients with adult TCS. Patients were retrospectively assessed for clinical, radiological and electrophysiological data between 1999 and 2008. Tibial somatosensorial evoked potentials, needle electromyography, nerve conduction studies and late responses (H reflex and F response) were studied in thirty (1 female, 29 males) TCS patients diagnosed by lumbar magnetic resonance imaging. Tibial somato-sensorial evoked potentials cortical response latency was abnormal in 18 (60%) patients. Needle electromyography revealed chronic neurogenic involvement in 13 (43.3%) patients. In nerve conduction studies, motor unit action potential amplitudes were reduced in 5 (16.6%) patients and H reflexes were abnormal in 13 (43.3%) patients. Different electrophysiological abnormalities may be seen in patients with adult TCS. Our results indicated that tibial SEP abnormalities are most sensitive electrophysiological finding in patients with adult TCS. Patients with TCS should undergo electrophysiological examinations whether they have subjective or objective complaints. These examinations should evaluate different systems and treatment planning should be done with the data obtained.

  10. Imaging Findings of Central Nervous System Vasculitis Associated with Goodpasture's Syndrome: a Case Report

    International Nuclear Information System (INIS)

    Kim, Jee Young; Ahn, Kook Jin; Jung, Jung Im; Jung, So Lyung; Kim, Bum Soo; Hahn, Seong Tae

    2007-01-01

    We report a rare case of CNS vasculitis associated with Goodpasture's syndrome in a 34-year-old man, who presented with a seizure and sudden onset of right sided weakness. He also had recurrent hemoptysis of one month's duration. Goodpasture's syndrome is histologically diagnosed by intense linear deposits of IgG along the glomerular basement membrane in both renal and lung tissues. oodpasture's syndrome is a rare disease, characterized by rapidly progressive glomerulonephritis, diffuse pulmonary hemorrhage and circulating antiglomerular basement membrane antibody (anti-GBM antibody). Central nervous system (CNS) manifestations in Goodpasture's syndrome are extremely rare, with only a few cases having been reported in the literature (8 10). Therefore, we present our imaging findings of CNS vasculitis associated with Goodpasture's syndrome, together with a review of the relevant literature. In summary, CNS vasculitis associated with Goodpasture's syndrome is extremely rare. Awareness of the imaging findings, as well as the clinical significance of CNS vasculitis associated with Goodpasture's syndrome, can be helpful in making the correct diagnosis and subsequent management of this rare condition

  11. Congenital Zika syndrome and neuroimaging findings: what do we know so far?

    Science.gov (United States)

    Ribeiro, Bruno Niemeyer de Freitas; Muniz, Bernardo Carvalho; Gasparetto, Emerson Leandro; Ventura, Nina; Marchiori, Edson

    2017-01-01

    Although infection with the Zika virus was first recognized in 1942, it received little attention until 2007, when a true pandemic spread throughout Africa, Asia, and the Americas. Since then, numerous forms of central nervous system involvement have been described, mainly malformations related to congenital infection. Although the neuroimaging findings in congenital Zika syndrome are not pathognomonic, many are quite suggestive of the diagnosis, and radiologists should be prepared to interpret such findings accordingly. The objective of this article is to review the computed tomography and magnetic resonance imaging findings in congenital Zika syndrome.

  12. Congenital Zika syndrome and neuroimaging findings: what do we know so far?

    Directory of Open Access Journals (Sweden)

    Bruno Niemeyer de Freitas Ribeiro

    Full Text Available Abstract Although infection with the Zika virus was first recognized in 1942, it received little attention until 2007, when a true pandemic spread throughout Africa, Asia, and the Americas. Since then, numerous forms of central nervous system involvement have been described, mainly malformations related to congenital infection. Although the neuroimaging findings in congenital Zika syndrome are not pathognomonic, many are quite suggestive of the diagnosis, and radiologists should be prepared to interpret such findings accordingly. The objective of this article is to review the computed tomography and magnetic resonance imaging findings in congenital Zika syndrome.

  13. Erdheim-Chester disease with novel gene mutations discovered as an incidental finding in explanted liver of a patient with hepatitis C cirrhosis: A case report and literature review.

    Science.gov (United States)

    Liao, Xiaoyan; Thorson, John A; Hughes, Tudor; Nguyen, John C; Wang, Huan-You; Lin, Grace Y

    2016-09-01

    Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis characterized by xanthogranulomatous infiltration of foamy histiocytes frequently involving bone and other organ systems. We herein report a unique case of ECD discovered incidentally in an explanted liver in a 65-year-old male with end-stage liver disease secondary to hepatitis C cirrhosis. Histological examination and immunohistochemical studies in the explanted liver revealed prominent foamy histiocytes that were CD68 positive, but CD1a and S100 negative. Mutational hotspot analysis of the explanted liver using a panel of 47 most common cancer-related genes performed by next generation sequencing (NGS) revealed likely somatic mutations in the PDGFRA, PTEN, and HNF1A genes, but no BRAF codon 600 mutations were detected. The bone marrow showed similar findings as in the liver. Whole body PET and bone scans demonstrated increased heterogeneous uptake in bilateral humeral and femoral diaphysis, most compatible with ECD. To our knowledge, this is the first case report of ECD that involves mainly bone marrow and liver with novel genomic alterations. Our case highlights the diversity and complexity of this disease entity and the importance of multi-modality approach integrating clinical and radiologic features with histopathologic and molecular/genomic findings. Copyright © 2016 Elsevier GmbH. All rights reserved.

  14. Incidental findings of liver, biliary system, pancreas and spleen in asymptomatic patients. Assessment and management recommendations; Zufallsbefunde von Leber, Gallensystem, Pankreas und Milz bei asymptomatischen Patienten. Bewertung und Managementempfehlung

    Energy Technology Data Exchange (ETDEWEB)

    Scharitzer, M.; Tamandl, D.; Ba-Ssalamah, A. [Medizinische Universitaet Wien, Universitaetsklinik fuer Radiologie und Nuklearmedizin, Wien (Austria)

    2017-04-15

    The increased use of highly developed imaging procedures, such as multidetector-row computed tomography and magnetic resonance imaging has led to a substantial increase of asymptomatic and unexpected findings. Abdominal CT investigations are particularly affected with a large number of incidental findings. This valuable diagnostic procedure also entails the risk of complex and cost-intensive subsequent investigations with partly invasive procedures. For this reason radiologists are more often confronted with the difficult task of correctly assessing these lesions, to decide on the need for additional investigations and to inform the patient in detail about the clinical relevance. The aims of this article are to describe the most common abdominal incidentalomas, to assist with the interpretation and differential diagnosis and to give recommendations for further management. (orig.) [German] Die vermehrte Verwendung hoch entwickelter bildgebender Verfahren wie Multidetektorcomputertomographie und Magnetresonanztomographie hat zu einer betraechtlichen Zunahme asymptomatischer und unerwarteter Befunde gefuehrt. Besonders betroffen sind abdominelle CT-Untersuchungen mit einer Vielzahl inzidenteller Befunde. Dieses wertvolle Diagnoseverfahren birgt auch die Gefahr aufwendiger und auch kostenintensiver Folgeuntersuchungen mit z. T. invasiven Verfahren. Vor diesem Hintergrund stellt sich fuer den Radiologen immer haeufiger die schwierige Aufgabe, diese Laesionen korrekt einzuschaetzen, ueber die Notwendigkeit einer weiteren Abklaerung zu entscheiden und den Patienten umfassend ueber die klinische Relevanz zu informieren. Das Ziel dieses Artikels ist es, die am haeufigsten vorkommenden abdominellen Zufallsbefunde zu beschreiben sowie Hilfestellung bei ihrer Interpretation und Differenzialdiagnose mit Empfehlungen fuer das weitere Management zu geben. (orig.)

  15. Incidental cancer in multinodular goitre post thyroidectomy

    African Journals Online (AJOL)

    anterior neck mass, but other nodules may be detected incidentally during radiological evaluation of the neck. ..... Our 5.7% false-negative rate for FNAB in detecting cancer is similar to the findings of Rumstadt et al. ... our institution most of these cases are treated medically with antithyroid medication followed by radioactive.

  16. Different SPECT findings before and after Capgras' syndrome in interictal psychosis.

    Science.gov (United States)

    Horikawa, Hideki; Monji, Akira; Sasaki, Masayuki; Maekawa, Toshihiko; Onitsuka, Toshiaki; Nitazaka, Yoko; Hirano, Yoji; Hirano, Shougo; Hashioka, Sadayuki; Kato, Takahiro; Yoshida, Ichiro; Kanba, Shigenobu

    2006-08-01

    We herein report a case of Capgras' syndrome observed in interictal psychosis in which the single-photon emission computed tomography (SPECT) findings before and after the appearance of the psychotic symptoms differed. SPECT with 99mTc-hexamethyl propyleneamine oxine (HMPAO) revealed worsening of hypoperfusion in the entire right hemisphere after onset of the psychotic symptoms. The enhanced hypoperfusion demonstrated by SPECT in the present case seems to indicate a right interhemispheric disconnection resulting in the occurrence of Capgras' syndrome.

  17. ''Dropped-head'' syndrome due to isolated myositis of neck extensor muscles: MRI findings

    International Nuclear Information System (INIS)

    Gaeta, Michele; Mazziotti, Silvio; Blandino, Alfredo; Toscano, Antonio; Rodolico, Carmelo; Mazzeo, Anna

    2006-01-01

    MRI findings of a patient with dropped-head syndrome due to focal myositis of the neck extensor muscles are presented. MRI showed oedematous changes and marked enhancement of the neck extensor muscles. After therapy MRI demonstrated disappearance of the abnormal findings. (orig.)

  18. Ophthalmic findings in Setleis syndrome: two new cases in a mother and son.

    Science.gov (United States)

    Kent, Jerrod S; Romanchuk, Kenneth G; Lemire, Edmond G

    2007-06-01

    Setleis syndrome is a rare ectodermal dysplasia with characteristic ophthalmic findings. We describe the first 2 reported cases in Canadian individuals of Aboriginal descent. Although most ophthalmic findings are benign, it is important to recognize the clinical significance for management and genetic counselling. We postulate an autosomal dominant inheritance in our cases.

  19. Incidental Anterior Cruciate Ligament Calcification: Case Report.

    Science.gov (United States)

    Hayashi, Hisami; Fischer, Hans

    2016-03-01

    The calcification of knee ligaments is a finding noted only in a handful of case reports. The finding of an anterior cruciate ligament calcification has been reported once in the literature. Comparable studies involving the posterior cruciate ligament, medial collateral ligament and an ossicle within the anterior cruciate ligament are likewise discussed in reports of symptomatic patients. We report a case of incidentally discovered anterior cruciate ligament calcification. We discuss the likely etiology and clinical implications of this finding.

  20. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

    International Nuclear Information System (INIS)

    Rubio, Eva I.; Blask, Anna; Bulas, Dorothy I.

    2016-01-01

    Craniosynostosis syndromes are uncommonly encountered in the prenatal period. Identification is challenging but important for family counseling and perinatal management. This series examines prenatal findings in craniosynostosis syndromes, comparing the complementary roles of US and MRI and emphasizing clues easily missed in the second trimester. Six prenatal cases evaluated from 2002 through 2011 were retrospectively reviewed. Referral history, gestational age, and sonographic and MRI findings were reviewed by three pediatric radiologists. Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. The gestational age at evaluation ranged from 21 to 33 weeks. All six were evaluated by MRI and US, with two undergoing repeat evaluation in the third trimester, yielding a total of eight MRIs and US exams. The referral history suggested cloverleaf skull in two cases but did not suggest craniosynostosis syndrome in any case. In four, the referral suggested central nervous system (CNS) findings that were not confirmed by MRI; additional CNS findings were discovered in the remaining two. In four cases, developing turricephaly resulted in a characteristic ''lampshade'' contour of the fetal head. Hypertelorism and proptosis were present in five, with proptosis better appreciated by MRI. Digit abnormalities were present in all, seen equally well by MRI and US. Lung abnormalities in the second trimester in one fetus resolved by the third trimester. Prenatal diagnosis of craniosynostosis syndromes is difficult prior to the third trimester. MRI and US have complementary roles in evaluation of these patients. (orig.)

  1. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna; Bulas, Dorothy I. [Children' s National Health System, Department of Radiology, Washington, DC (United States)

    2016-05-15

    Craniosynostosis syndromes are uncommonly encountered in the prenatal period. Identification is challenging but important for family counseling and perinatal management. This series examines prenatal findings in craniosynostosis syndromes, comparing the complementary roles of US and MRI and emphasizing clues easily missed in the second trimester. Six prenatal cases evaluated from 2002 through 2011 were retrospectively reviewed. Referral history, gestational age, and sonographic and MRI findings were reviewed by three pediatric radiologists. Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. The gestational age at evaluation ranged from 21 to 33 weeks. All six were evaluated by MRI and US, with two undergoing repeat evaluation in the third trimester, yielding a total of eight MRIs and US exams. The referral history suggested cloverleaf skull in two cases but did not suggest craniosynostosis syndrome in any case. In four, the referral suggested central nervous system (CNS) findings that were not confirmed by MRI; additional CNS findings were discovered in the remaining two. In four cases, developing turricephaly resulted in a characteristic ''lampshade'' contour of the fetal head. Hypertelorism and proptosis were present in five, with proptosis better appreciated by MRI. Digit abnormalities were present in all, seen equally well by MRI and US. Lung abnormalities in the second trimester in one fetus resolved by the third trimester. Prenatal diagnosis of craniosynostosis syndromes is difficult prior to the third trimester. MRI and US have complementary roles in evaluation of these patients. (orig.)

  2. Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity.

    Science.gov (United States)

    Shaik, Sameeulla; Raviraj, Jayam; Dirasantchu, Suresh; Venkata, Suman S

    2016-01-01

    Ellis-van Creveld (EVC) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature.

  3. Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity

    Directory of Open Access Journals (Sweden)

    Sameeulla Shaik

    2016-01-01

    Full Text Available Ellis-van Creveld (EVC syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature.

  4. A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy.

    Science.gov (United States)

    Kiraz, A; Aldemir, O; Karabulut, Y; Turan, C; Dundar, M

    2013-01-01

    Mowat-Wilson syndrome is a genetic disease characterized by typical facial features, Hirschsprung disease and multiple congenital abnormalities. MWS is a single gene disorder. One of the most specific clinical signs in MWS is the distinctive face. We report a two-year-old boy with multiple congenital anomalies. He had peripupillary atrophy and gingival hypertrophy different from the literature. The patient was also diagnosed with his clinical findings. These features may be important in Mowat-Wilson syndrome and clinicians should keep these findings in mind.

  5. Imaging findings in a case of Gorlin-Goltz syndrome: a survey using advanced modalities

    International Nuclear Information System (INIS)

    Bronooh, Pegah; Shakibafar, Ali Reza; Houshyar, Maneli; Nafarzade, Shima

    2011-01-01

    Gorlin-Goltz syndrome is an infrequent multi-systemic disease which is characterized by multiple keratocysts in the jaws, calcification of falx cerebri, and basal cell carcinomas. We report a case of Gorlin-Goltz syndrome in a 23-year-old man with emphasis on image findings of keratocyctic odontogenic tumors (KCOTs) on panoramic radiograph, computed tomography, magnetic resonance (MR) imaging, and Ultrasonography (US). In this case, pericoronal lesions were mostly orthokeratinized odontogenic cyst (OOC) concerning the MR and US study, which tended to recur less. The aim of this report was to clarify the characteristic imaging features of the syndrome-related keratocysts that can be used to differentiate KCOT from OOC. Also, our findings suggested that the recurrence rate of KCOTs might be predicted based on their association to teeth.

  6. Imaging findings in a case of Gorlin-Goltz syndrome: a survey using advanced modalities

    Energy Technology Data Exchange (ETDEWEB)

    Bronooh, Pegah [Dental School, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of); Shakibafar, Ali Reza [TABA Medical Imaging Center, Shiraz (Iran, Islamic Republic of); Houshyar, Maneli; Nafarzade, Shima [Oral Pathology Department, Babol Dental School, Babol (Iran, Islamic Republic of)

    2011-12-15

    Gorlin-Goltz syndrome is an infrequent multi-systemic disease which is characterized by multiple keratocysts in the jaws, calcification of falx cerebri, and basal cell carcinomas. We report a case of Gorlin-Goltz syndrome in a 23-year-old man with emphasis on image findings of keratocyctic odontogenic tumors (KCOTs) on panoramic radiograph, computed tomography, magnetic resonance (MR) imaging, and Ultrasonography (US). In this case, pericoronal lesions were mostly orthokeratinized odontogenic cyst (OOC) concerning the MR and US study, which tended to recur less. The aim of this report was to clarify the characteristic imaging features of the syndrome-related keratocysts that can be used to differentiate KCOT from OOC. Also, our findings suggested that the recurrence rate of KCOTs might be predicted based on their association to teeth.

  7. Magnetic resonance imaging findings in patients with Hallervorden-Spatz syndrome

    International Nuclear Information System (INIS)

    Nomura, Cesar Higa; Lima, Eduardo Carneiro; Cerri, Giovanni Guido; Leite, Claudia da Costa; Rosemberg, Sergio

    2003-01-01

    The objective of this study was to review the magnetic resonance imaging findings in patients with Hallervorden-Spatz syndrome. We evaluated eight patients with Hallervorden-Spatz syndrome using magnetic resonance imaging. The protocol included at least sagittal and axial T1-weighted images and axial and coronal T2-weighted images. Intravenous gadolinium was administered in a dose of 0.1 mmol/kg. Post-enhanced images were obtained at least in the axial and coronal planes. The results were: all patients presented a bilateral and symmetrical 'tiger-eye signal' on T2-weighted images, corresponding to central hyperintensity and peripheral hypointensity in the globi pallidus. FLAIR and diffusion images showed similar abnormalities. There was no gadolinium enhancement in any of the cases. We concluded that magnetic resonance imaging findings in patients with Hallervorden-Spatz syndrome are very typical and allow the diagnosis of the disease. (author)

  8. Polyhydramnios, fetal overgrowth, and macrocephaly: prenatal ultrasound findings of Costello syndrome.

    Science.gov (United States)

    Smith, Laura P; Podraza, John; Proud, Virginia K

    2009-02-15

    Costello syndrome is a multiple congenital anomaly syndrome consisting of dysmorphic facies, cutis laxa, short stature, developmental delay, and mental retardation. Complications include failure to thrive, hypertrophic cardiomyopathy with arrhythmias, and benign and malignant tumors. This report describes a new case of Costello syndrome in a preterm infant born at 27 weeks gestation and diagnosed with Costello syndrome at 7 weeks of life who died at 6 months of age due to cardiac and pulmonary complications. In addition, data were compiled from parent surveys including growth parameters on 16 infants who were subsequently diagnosed with Costello syndrome and had mutation confirmation. The most common prenatal findings in the literature and in this cohort were polyhydramnios and fetal overgrowth with relative macrocephaly. Based on this study, ultrasound identification of polyhydramnios in the context of prenatal overgrowth, especially with relative macrocephaly, needs to raise the possibility of a diagnosis of Costello syndrome in the fetus because of the life-threatening cardiac complications that may occur early in the newborn period.

  9. Prune belly syndrome in uniovular twin: a new finding or a case of ...

    African Journals Online (AJOL)

    A case of Prune Belly Syndrome associated with High Anorectal Anomaly and Unilateral Lung Cyst occurring in a uniovular twin is hereby presented. The twin brother has no clinical evidence of congenital anomaly in any system. We therefore ask; is this a new finding or a case of improper documentation of data. Keywords: ...

  10. Congenital optic tract syndrome: magnetic resonance imaging and scanning laser ophthalmoscopy findings.

    Science.gov (United States)

    Murphy, M A; Grosof, D H; Hart, W M

    1997-12-01

    Lesions of the optic tract produce a distinctive pattern of optic atrophy and visual field loss and may be due to either congenital or acquired causes. We report a case of a congenital optic tract syndrome and correlate the magnetic resonance imaging findings with the appearance of nerve fiber layer defects found by confocal scanning laser ophthalmoscopy.

  11. Case of Ehlers-Danlos syndrome associated with abnormal cranial CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Hagino, Hiroshi; Sugitani, Akitoshi (Matsue Seishi Gakuen, Shimane (Japan)); Eda, Isematsu; Takakura, Hiroki

    1984-01-01

    A 16-year-old girl having typical Ehlers-Danlos syndrome was reported. In this patient, although there were no specific neurological findings, cranial CT scanning revealed marked dilation and deformation of the whole forth ventricle, dilation of the superior cerebellar cistern, and the dilation and deformation of the quadrigeminal cistern and circumvolute cistern, suggesting morphological abnormalities of the vermian region.

  12. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

    NARCIS (Netherlands)

    Croonen, Ellen A.; Nillesen, Willy M.; Stuurman, Kyra E.; Oudesluijs, Gretel; van de Laar, Ingrid M. B. M.; Martens, Liesbeth; Ockeloen, Charlotte; Mathijssen, Inge B.; Schepens, Marga; Ruiterkamp-Versteeg, Martina; Scheffer, Hans; Faas, Brigitte H. W.; van der Burgt, Ineke; Yntema, Helger G.

    2013-01-01

    In recent studies on prenatal testing for Noonan syndrome (NS) in fetuses with an increased nuchal translucency (NT) and a normal karyotype, mutations have been reported in 9-16% of cases. In this study, DNA of 75 fetuses with a normal karyotype and abnormal ultrasound findings was tested in a

  13. Hind brain agenesis a rare imaging findings in cerebro cerebellar lissencephalic syndrome.

    Science.gov (United States)

    Mundaganur, Praveen M; Solwalkar, Pradeep; Nimbal, Vishal

    2014-01-01

    A case report of cerebro cerebellar lissencephaly shows complete agenesis of cerebellum and brainstem which is rare imaging finding of group lissencephaly (type I lissencephaly). Though agenesis of cerebellum and brainstem were included in literature, in most of the cases we saw a hypoplasia or atrophy of cerebellum in lissencephaly syndrome. The CT scan findings of this patient shows features of lissencephaly with complete agenesis of brain stem and cerebellum associated with multiple congenital abnormalities.

  14. The diagnostic efficacy of clinical findings and electrophysiological studies in carpal tunnel syndrome

    OpenAIRE

    Buyukkoyuncu Pekel, Nilufer; Nar Senol, Pelin; Yildiz, Demet; Kilic, Ahmet Kasim; Kamaci Sener, Deniz; Seferoglu, Meral; Gunes, Aygul

    2017-01-01

    Objective. The aim of the study was to examine the relation between clinical findings, neurological examination and electrophysiological studies in diagnosing carpal tunnel syndrome (CTS) and share our institutional experience in patients with CTS. Methods. Patients presenting with complaints of pain, paresthesia, and weakness in hands who diagnosed CTS between 2014 and 2015 were examined retrospectively. Demographic characteristics, clinical and neurological examination findings and electrod...

  15. Syringomyelia in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): imaging findings following bone marrow transplantation

    International Nuclear Information System (INIS)

    Hite, S.H.; Krivit, W.; Haines, S.J.; Whitley, C.B.

    1997-01-01

    We present the imaging findings in a patient with mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) who developed holocord syringomyelia. This represents the only reported case of syrinx formation in a child with MPS VI. Clinical, neurologic and spinal magnetic resonance imaging findings are presented. The patient has maintained a stable clinical and neurologic course over the period following allogeneic bone marrow transplant. (orig.). With 3 figs

  16. Incidental fear cues increase monetary loss aversion.

    Science.gov (United States)

    Schulreich, Stefan; Gerhardt, Holger; Heekeren, Hauke R

    2016-04-01

    In many everyday decisions, people exhibit loss aversion-a greater sensitivity to losses relative to gains of equal size. Loss aversion is thought to be (at least partly) mediated by emotional--in particular, fear-related--processes. Decision research has shown that even incidental emotions, which are unrelated to the decision at hand, can influence decision making. The effect of incidental fear on loss aversion, however, is thus far unclear. In two studies, we experimentally investigated how incidental fear cues, presented during (Study 1) or before (Study 2) choices to accept or reject mixed gambles over real monetary stakes, influence monetary loss aversion. We find that the presentation of fearful faces, relative to the presentation of neutral faces, increased risk aversion-an effect that could be attributed to increased loss aversion. The size of this effect was moderated by psychopathic personality: Fearless dominance, in particular its interpersonal facet, but not self-centered impulsivity, attenuated the effect of incidental fear cues on loss aversion, consistent with reduced fear reactivity. Together, these results highlight the sensitivity of loss aversion to the affective context. (c) 2016 APA, all rights reserved).

  17. Early diagnosis of Lemierre's syndrome based on a medical history and physical findings.

    Science.gov (United States)

    Murata, Yutaka; Wada, Mikio; Kawashima, Atsushi; Kagawa, Keizo

    2013-01-01

    A 37-year-old woman presented with fever and rigor after experiencing respiratory symptoms the previous week that had resolved within a few days. On presentation, her neck was swollen along the right sternocleidomastoid muscle, and chest CT showed pulmonary septic embolisms. Lemierre's syndrome was strongly suspected based on the patient's medical history and physical findings. Further examination revealed venous thrombus, and Fusobacterium necrophorum was later isolated from blood cultures. Antibiotics for anaerobes were administered before a final diagnosis was made, and the patient's symptoms thereafter improved. A rapid diagnosis is essential, since Lemierre's syndrome can be fatal with a diagnostic delay.

  18. Petrified ears in a patient with Keutel syndrome: temporal bone CT findings

    International Nuclear Information System (INIS)

    Parmar, Hemant; Blaser, Susan; Yoo, Shi-Joon; Unger, Sheila; Papsin, Blake

    2006-01-01

    We present unusual imaging findings of petrified ears in a 9-year-old girl with Keutel syndrome. The patient presented for a temporal bone study for hearing loss. CT scan showed middle and inner ear abnormalities along with extensive and unsuspected calcification of the external ears and ossicular ligaments. On further investigation, the patient was found to have diffuse cartilage calcification in the larynx and tracheobronchial tree, brachytelephalangism and peripheral pulmonary stenosis suggestive of Keutel syndrome. Confirmation was obtained by mutation analysis. (orig.)

  19. Autosomal Dominant Polycystic Kidney Disease, incidental finding ...

    African Journals Online (AJOL)

    N.J. Gildenhuys

    2016-06-30

    Jun 30, 2016 ... Abbreviations: ADPKD, Autosomal Dominant Polycystic Kidney Disease; UPJ, congenital ureteropelvic junction obstruction; HK, horseshoe kidney;. RCC, renal cell carcinoma; MVA, motor vehicle accident; PVA, pedestrian vehicle accident; GH, gross haematuria; AP, abdominal pain; FP, flank pain;.

  20. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.

    Science.gov (United States)

    Poretti, Andrea; Snow, Joseph; Summers, Angela C; Tekes, Aylin; Huisman, Thierry A G M; Aygun, Nafi; Carson, Kathryn A; Doherty, Dan; Parisi, Melissa A; Toro, Camilo; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, Jim C; Cullinane, Andrew R; Vilboux, Thierry; Gahl, William A; Gunay-Aygun, Meral

    2017-08-01

    Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular genetic cause and cognitive function. Brain MRI of 110 patients with Joubert syndrome was included in this study. A comprehensive evaluation of brain MRI studies for infratentorial and supratentorial morphological abnormalities was performed. Genetic cause was identified by whole-exome sequencing, and cognitive functions were assessed with age-appropriate neurocognitive tests in a subset of patients. The cerebellar hemispheres were enlarged in 18% of the patients, mimicking macrocerebellum. The posterior fossa was enlarged in 42% of the patients, resembling Dandy-Walker malformation. Abnormalities of the brainstem, such as protuberance at the ventral contour of the midbrain, were present in 66% of the patients. Abnormalities of the supratentorial brain were present in approximately one-third of the patients, most commonly malrotation of the hippocampi. Mild ventriculomegaly, which typically did not require shunting, was present in 23% of the patients. No correlation between neuroimaging findings and molecular genetic cause was apparent. A novel predictor of outcome was identified; the more severe the degree of vermis hypoplasia, the worse the neurodevelopmental outcome was. The spectrum of neuroimaging findings in Joubert syndrome is wide. Neuroimaging does not predict the genetic cause, but may predict the neurodevelopmental outcome. A high degree of vermis hypoplasia correlates with worse neurodevelopmental outcome. This finding is important for prognostic counselling in Joubert syndrome. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  1. Incidental emotions influence risk preference and outcome evaluation.

    Science.gov (United States)

    Zhao, Ding; Gu, Ruolei; Tang, Ping; Yang, Qiwei; Luo, Yue-Jia

    2016-10-01

    Incidental emotions, which are irrelevant to the current decision, play a significant role in the decision-making process. In this study, to investigate the influence of incidental emotions on behavioral, psychological, and electrophysiological responses in the process of decision making, participants were required to perform a monetary gambling task. During the selection stage, an emotional picture, which was chosen from the Chinese Affective Picture System and fell into one of three categories: negative, neutral, and positive, was presented between two alternatives (small/large amount of bet). The pictures were provided to induce incidental emotions. ERPs and self-rating emotional experiences to outcome feedback were recorded during the task. Behavioral results showed that positive incidental emotions elicited risk preference, but emotional experiences to outcome feedback were not influenced by incidental emotions. The feedback-related negativity amplitudes were larger in the positive emotion condition than in the negative and neutral emotion conditions for small outcomes (including wins and losses), whereas there was no difference between the three conditions for large outcomes. In addition, the amplitudes of P3 were reduced overall in the negative emotion condition. We suggest that incidental emotions have modulated both the option assessment stage (manifested in behavioral choices) and the outcome evaluation stage (manifested in ERP amplitudes) of decision making unconsciously (indicated by unchanged subjective emotional experiences). The current findings have expanded our understanding of the role of incidental emotion in decision making. © 2016 Society for Psychophysiological Research.

  2. Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

    International Nuclear Information System (INIS)

    Alanay, Yasemin; Utine, Gulen E.; Tuncbilek, Ergul; Lachman, Ralph S.; Krakow, Deborah

    2006-01-01

    Larsen syndrome is an autosomal-dominant disorder characterized by multiple joint dislocations, vertebral anomalies and dysmorphic facies. Both autosomal-dominant and autosomal-recessive forms of the disorder have been proposed. Individuals with autosomal-dominant Larsen syndrome have characteristic ''cylindrical-shape'' thumbs caused by broad, shortened phalanges. Autosomal-dominant Larsen syndrome results from heterozygosity for mutations in filamin B, a cytoskeletal protein involved in multicellular processes. We report here a patient with a duplicated or accessory distal thumb phalanx and multiple large joint dislocations who was shown to be heterozygous for a filamin B mutation predicting the amino acid substitution G1691S. This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder. (orig.)

  3. Incidental malignant periocular tumors

    Directory of Open Access Journals (Sweden)

    Thabit Odat

    2016-04-01

    Full Text Available AIM: To study the incidence, epidemiology, and clinical characteristics of incidental malignant periocular tumors at the royal medical services hospitals of Jordan.METHODS: Retrospective medical charts of 327 patients with malignant periocular tumor diagnosis at Jordan military hospitals between 2004 and 2015 were reviewed. Study variables included age, gender, city where patient lived, the presenting complaint(not caused by or related to tumor, clinical and histological diagnosis, size of the tumor, location, and surgical procedure.RESULTS:A total of 327 charts reviewed, 46(14.1%patients were found to have incidental malignant periocular tumor. Males where affected more than females with a ratio of 2:1. The average age was 66.39±10.59(22-83y. The most common presenting symptom or disease was blurring of vision secondary to cataract(44%, followed by combined cataract and other associated complaints such as epiphora in 21.7%.Preliminary clinical diagnosis corresponded with histological diagnosis in 95.7% of skin cancer. The average size of the lesions was 1.04×0.85 mm2(0.2×0.2-3.0×3.0 mm2. There was no significant relationship between the maximum diameter of the tumor and age of the patient,(P=0.105. The most frequent location of tumors was the lower eyelid(30.4%followed by the medial canthus(26.1%. The follow up period ranged between 6mo and 3y(average 9.3mo.CONCLUSION: Incidental malignant periocular malignant tumors were relatively common in this study, which urges excision of any suspicious lesion particularly young patients. A prospective study is needed to investigate the reasons why some patients neglect these lesions.

  4. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients

    Energy Technology Data Exchange (ETDEWEB)

    Bracken, Jennifer; Robinson, Ian; Snow, Aisling; Rea, David; Phelan, Ethna [Our Lady' s Children' s Hospital, Department of Radiology, Dublin (Ireland); Watson, Rosemarie; Irvine, Alan D. [Our Lady' s Children' s Hospital, Department of Dermatology, Dublin (Ireland)

    2011-09-15

    PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome. (orig.)

  5. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients

    International Nuclear Information System (INIS)

    Bracken, Jennifer; Robinson, Ian; Snow, Aisling; Rea, David; Phelan, Ethna; Watson, Rosemarie; Irvine, Alan D.

    2011-01-01

    PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome. (orig.)

  6. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.

    LENUS (Irish Health Repository)

    Bracken, Jennifer

    2012-02-01

    BACKGROUND: PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. OBJECTIVE: To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. MATERIALS AND METHODS: A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. RESULTS: Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin\\/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). CONCLUSION: Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome.

  7. CASE REPORT CASE CASE R Chilaiditi's syndrome demonstrated ...

    African Journals Online (AJOL)

    2009-11-19

    Nov 19, 2009 ... liver and diaphragm. We report here on an unusual and incidental finding of this syndrome using single photon emission computed tomography-CT. (SPECT-CT) in a patient referred for a possible inflammatory process. Gallium-67 citrate was the agent used in an attempt to localise a site of active disease.

  8. Radiologic findings consistent with kissing spines syndrome in Chilean thoroughbreds horses

    Directory of Open Access Journals (Sweden)

    Dario Infante

    2016-12-01

    Full Text Available Alterations in the thoracolumbar spine of racehorses are frequent and often significantly decrease their athletic performance. The most common thoracolumbar alteration in thoroughbred horses is kissing spines syndrome (KSS. The narrowing of the interespinous space, generally located between T14-T15 and T15-T16, produces this syndrome. A radiographic study was performed to 30 thoroughbred horses on the segment between T12 and T18. Two latero-lateral views from digital equipment were obtained of the T12 to T18 segment of each horse, the images were analyze and the radiographic findings established the KSS according to a grading scale. The study sample was homogeneous and the results were similar to other radiographic findings of KSS occurring in segments T14-T15 and T15-16.

  9. Prenatal sonographic findings of Beckwith-Wiedemann syndrome: A case report

    International Nuclear Information System (INIS)

    Yoon, Won Sang; Lee, Jee Young; Lee, Yeon Hee

    2000-01-01

    The Backwith-Wiedemann syndrome (BWS) is and unusual complex with variable clinical features. Major findings included defects in the abdominal wall, macroglossia and macrosomia. These features should be amenable to prenatal ultrasound detection. Serious complications are possible in the neonatal period, which may result from the hypoglycemia or the airway obstruction due to macroglossia. Accurate prenatal diagnosis allows optimum prenatal care and prevention of serious complications. We report a case of prenatally diagnosed BWS with omphalocele, macroglossia, nephromegaly and hepatic cyst.

  10. Parry-Romberg syndrome: findings in advanced magnetic resonance imaging sequences - case report

    Energy Technology Data Exchange (ETDEWEB)

    Paula, Rafael Alfenas de; Ribeiro, Bruno Niemeyer de Freitas, E-mail: alfenas85@gmail.com [Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ (Brazil). Hospital Universitario Clementino Fraga Filho; Bahia, Paulo Roberto Valle [Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ (Brazil). Dept. de radiologia; Ribeiro, Renato Niemeyer de Freitas [Hospital de Clinica de Jacarepagua, Rio de Janeiro, RJ (Brazil); Carvalho, Lais Balbi de [Universidade Presidente Antonio Carlos (Unipac), Juiz de Fora, MG (Brazil)

    2014-05-15

    Parry-Romberg syndrome is a rare disease characterized by progressive hemifacial atrophy associated with other systemic changes, including neurological symptoms. Currently, there are few studies exploring the utilization of advanced magnetic resonance sequences in the investigation of this disease. The authors report the case of a 45-year-old patient and describe the findings at structural magnetic resonance imaging and at advanced sequences, correlating them with pathophysiological data. (author)

  11. Prenatal sonographic findings of Beckwith-Wiedemann syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Won Sang; Lee, Jee Young; Lee, Yeon Hee [Dankook University Hospital, Chonan (Korea, Republic of)

    2000-03-15

    The Backwith-Wiedemann syndrome (BWS) is and unusual complex with variable clinical features. Major findings included defects in the abdominal wall, macroglossia and macrosomia. These features should be amenable to prenatal ultrasound detection. Serious complications are possible in the neonatal period, which may result from the hypoglycemia or the airway obstruction due to macroglossia. Accurate prenatal diagnosis allows optimum prenatal care and prevention of serious complications. We report a case of prenatally diagnosed BWS with omphalocele, macroglossia, nephromegaly and hepatic cyst.

  12. Audiological and Ontological Findings in Acquired Immune-Deficiency Syndrome (AIDS

    Directory of Open Access Journals (Sweden)

    Farzaneh Vadoudfam

    2001-05-01

    Full Text Available The human immunodeficiency virus (HIV is the virus that causes AIDS (acquired immune-deficiency syndrome. Head and neck are the most common sites in contamination with this virus. HIV can affect outer, middle and inner parts of the ear. Changing in the color of the skin, effusion, infection and sudden hearing loss are some types of the audiological and ontological findings in such patients.

  13. The Usefulness of the Preoperative Magnetic Resonance Imaging Findings in the Evaluation of Tarsal Tunnel Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Jung, Hyun Jin; Lee, Sheen Woo; Jeong, Yu Mi; Choi, Hye Young; Kim, Hyung Sik [Dept. of Radiology, Gil Hospital, Gacheon University College of Medicine, Incheon (Korea, Republic of); Park, Hong Gi; Kwak, Ji Hoon [Dept. of Orthopedic Surgery, Gil Hospital, Gacheon University College of Medicine, Incheon (Korea, Republic of)

    2012-02-15

    The purpose of this study was to access the diverse conditions that lead to the clinical manifestations of tarsal tunnel syndrome and evaluate the usefulness of magnetic resonance imaging (MRI) in preoperative evaluation. Thirty-three patients who underwent ankle MRI and surgery under the impression of tarsal tunnel syndrome were retrospectively analyzed. The findings on ankle MRI were categorized into space occupying lesions within the tarsal tunnel, space occupying lesions of the tunnel wall, and non-space occupying lesions. Associated plantar muscle atrophy was also evaluated. Medical records were reviewed for correlation of nerve conduction velocity (NCV) and surgical findings. There were 21 space occupying lesions of the tarsal tunnel, and eight lesions of tarsal tunnel wall. There were three cases with accessory muscle, three with tarsal coalition, five with ganglion cysts, one neurogenic tumor, five flexor retinaculum hypertrophy, three varicose veins, and nine with tenosynovitis of the posterior tibialis, flexor digitorum longus, or flexor hallucis longus tendon. One patient was found to have a deltoid ligament sprain. Of the 32, eight patients experienced fatty atrophic change within any one of the foot muscles. NCV was positive in 79% of the MRI-positive lesions. MRI provides detailed information on ankle anatomy, which includes that of tarsal tunnel and beyond. Pathologic conditions that cause or mimic tarsal tunnel syndrome are well demonstrated. MRI can enhance surgical planning by indicating the extent of decompression required, and help with further patient management. Patients with tarsal tunnel syndrome can greatly benefit from preoperative MRI. However, it should be noted that not all cases with tarsal tunnel syndrome have MRI-demonstrable causes.

  14. The Usefulness of the Preoperative Magnetic Resonance Imaging Findings in the Evaluation of Tarsal Tunnel Syndrome

    International Nuclear Information System (INIS)

    Jung, Hyun Jin; Lee, Sheen Woo; Jeong, Yu Mi; Choi, Hye Young; Kim, Hyung Sik; Park, Hong Gi; Kwak, Ji Hoon

    2012-01-01

    The purpose of this study was to access the diverse conditions that lead to the clinical manifestations of tarsal tunnel syndrome and evaluate the usefulness of magnetic resonance imaging (MRI) in preoperative evaluation. Thirty-three patients who underwent ankle MRI and surgery under the impression of tarsal tunnel syndrome were retrospectively analyzed. The findings on ankle MRI were categorized into space occupying lesions within the tarsal tunnel, space occupying lesions of the tunnel wall, and non-space occupying lesions. Associated plantar muscle atrophy was also evaluated. Medical records were reviewed for correlation of nerve conduction velocity (NCV) and surgical findings. There were 21 space occupying lesions of the tarsal tunnel, and eight lesions of tarsal tunnel wall. There were three cases with accessory muscle, three with tarsal coalition, five with ganglion cysts, one neurogenic tumor, five flexor retinaculum hypertrophy, three varicose veins, and nine with tenosynovitis of the posterior tibialis, flexor digitorum longus, or flexor hallucis longus tendon. One patient was found to have a deltoid ligament sprain. Of the 32, eight patients experienced fatty atrophic change within any one of the foot muscles. NCV was positive in 79% of the MRI-positive lesions. MRI provides detailed information on ankle anatomy, which includes that of tarsal tunnel and beyond. Pathologic conditions that cause or mimic tarsal tunnel syndrome are well demonstrated. MRI can enhance surgical planning by indicating the extent of decompression required, and help with further patient management. Patients with tarsal tunnel syndrome can greatly benefit from preoperative MRI. However, it should be noted that not all cases with tarsal tunnel syndrome have MRI-demonstrable causes.

  15. Celiac artery compression syndrome with bilateral Bochdalek hernia

    International Nuclear Information System (INIS)

    Kara, K.; Verim, S.; Bozkurt, Y.; Tasar, M.

    2012-01-01

    Full text: Introduction: Celiac artery compression syndrome or median arcuate ligament syndrome is rare and controversial condition. The definition of the syndrome relies on a combination of both clinical and radiographic features. It typically occurs in young patients, who may present with epigastric pain and weight loss. Bochdalek hernia is the most common congenital diaphragmatic hernia in adults. Bilaterality of this pathology is rare. There are not many reports about the associated pathologies to Bochdalek hernia. Objectives and tasks: We aimed to demonstrate the computed tomography (CT) angiography findings of celiac artery compression syndrome with Bochdalek hernia that has detected incidentally. Materials and methods: A CT angiography was performed to 32-year-old patient having postphelebitic syndrome for the possible diagnosis as pulmonary embolus. Results: At the imaging pulmonary arteries and the branches were normal. Celiac artery compression syndrome with Bochdalek Hernia was detected incidentally. A %75 stenosis at the origin of celiac artery and post stenotic dilatation after the stenosis was seen due to the compression. A poster medial defect at the diaphragm was seen as an additional finding for the cause of Bochdalek hernia. Conclusion: Many incidental finding can be detected at vascular and non vascular area in the routine CT angiography imaging. The pathologies like celiac artery compression syndrome and congenital diaphragm pathologies can be detected easily at CT angiography method

  16. High-resolution computed tomography findings in eight patients with hantavirus pulmonary syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Barbosa, Diego de Lacerda; Hochhegger, Bruno; Souza Junior, Arthur Soares; Zanetti, Glaucia; Escuissato, Dante Luiz; Meirelles, Gustavo de Souza Portes; Funari, Marcelo Buarque de Gusmao; Marchiori, Edson, E-mail: edmarchiori@gmail.com [Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ (Brazil); Santa Casa de Porto Alegre, Porto Alegre, RS (Brazil); Faculdade de Medicina de Sao Jose do Rio Preto (FAMERP), SP (Brazil); Ultra X, Sao Jose do Rio Preto, SP (Brazil); Universidade Federal do Parana (UFPR), Curitiba, PR (Brazil); Universidade Federal de Sao Paulo (UNIFESP), Sao Paulo, SP (Brazil); Grupo Fleury, Sao Paulo, SP (Brazil); Universidade de Sao Paulo (FM/USP), Sao Paulo, SP (Brazil). Faculdade de Medicina

    2017-05-15

    Objective: The purpose of this study was to describe the high-resolution computed tomography (HRCT) findings in patients with hantavirus pulmonary syndrome (HPS). Materials and Methods: We retrospectively reviewed HRCT findings from eight cases of HPS. All patients were men, aged 19-70 (mean, 41.7) years. Diagnoses were established by serological test (enzyme-linked immunosorbent assay) in all patients. Two chest radiologists analyzed the images and reached decisions by consensus. Results: The predominant HRCT findings were ground-glass opacities (GGOs) and smooth inter- and intralobular septal thickening, found in all eight cases; however, the crazy-paving pattern was found in only three cases. Pleural effusion and peribronchovascular thickening were observed in five patients. The abnormalities were bilateral in all patients. Conclusion: The predominant HRCT findings in patients with HPS were GGOs and smooth inter- and intralobular septal thickening, which probably correlate with the histopathologic findings of pulmonary edema. (author)

  17. Brain imaging findings of patients with congenital cataracts, facial dysmorphism neuropathy syndrome

    International Nuclear Information System (INIS)

    Zlatareva, D.; Penev, L.; Hadjidekov, V.; Chamova, T.; Guergeltcheva, V.; Tournev, I.; Tournev, I.; Bojinova, V.; Kaprelian, A.; Tzoneva, D.

    2012-01-01

    Congenital cataracts, facial dysmorphism neuropathy (CCFDN) syndrome is a rare genetic disorder of autosomal recessive inheritance, observed in patients of Gypsy ancestry. All patients are homozygous for the same mutation in the CTDP1 gene mapping to 18qter. The clinical manifestations of the disease include congenital cataracts, facial dysmorphism, peripheral neuropathy due to primary hypomyelination, intellectual impairment and involvement of central nervous system.The aim of this study is to analyze CNS magnetic resonance imaging findings of patients with CCFDN syndrome and to apply severity score system. MRI of 20 patients (10 children - 4 girls and 6 boys and 10 adults - 6 women and 4 men with CCFDN was performed on 1,5T unit. We apply severity score system (previously used for metachromatic leukodystrophy) to evaluate patients with CCFDN which was adapted to the changes observed in CCFDN patients. This score system assessed WM involvement, as well as the presence of cerebral and cerebellar atrophy. We have found pathologic findings in 19 patients (95%). White matter hyperintensities were found in 18 and cerebral atrophy in 18 patients. The severity score have varied from 0 to 18 points. In contrast to previous studies we have found higher frequency of white matter hyperintensities. The findings are more prominent with patients' age. The most common MRI findings are cerebral atrophy and periventricular hyperintensities. This study gives the first detailed description of MRI findings in CCFDN syndrome patients where severity score system was applied. The score system could be applied in follow-up studies to evaluate progression of CNS findings. (authors)

  18. Clinical features and imaging findings in a case of Capgras syndrome.

    Science.gov (United States)

    Luca, Maria; Bordone, Andrea; Luca, Antonina; Patti, Andrea; Sortino, Giuseppe; Calandra, Carmela

    2013-01-01

    Capgras syndrome consists of the delusional belief that a person or persons have been replaced by doubles or impostors. It can occur in the context of both psychiatric and organic illness, and seems to be related to lesions of the bifrontal and right limbic and temporal regions. Indeed, magnetic resonance imaging has revealed brain lesions in patients suffering from Capgras syndrome. This case study reports the findings of a thorough diagnostic evaluation in a woman suffering from Capgras syndrome and presenting with the following clinical peculiarities: obsessive modality of presentation of the delusional ideation, intrusiveness of such ideation (that even disturbed her sleep), as well as a sense of alienation and utter disgust towards the double. These characteristics bring to mind the typical aspects of obsessive-compulsive disorder. Neuroanatomic investigation, through magnetic resonance imaging, performed on this patient showed alteration of the bilateral semioval centers, which are brain regions associated with the emotion of disgust and often show alterations in subjects suffering from obsessive-compulsive disorder. Hence, neuroimaging allows researchers to put forward the hypothesis of a common neuroanatomic basis for Capgras syndrome and obsessive-compulsive disorder, at least for cases in which the delusional ideation is associated with deep feelings of disgust and presents with a certain pervasiveness.

  19. Clinical features and imaging findings in a case of Capgras syndrome

    Science.gov (United States)

    Luca, Maria; Bordone, Andrea; Luca, Antonina; Patti, Andrea; Sortino, Giuseppe; Calandra, Carmela

    2013-01-01

    Capgras syndrome consists of the delusional belief that a person or persons have been replaced by doubles or impostors. It can occur in the context of both psychiatric and organic illness, and seems to be related to lesions of the bifrontal and right limbic and temporal regions. Indeed, magnetic resonance imaging has revealed brain lesions in patients suffering from Capgras syndrome. This case study reports the findings of a thorough diagnostic evaluation in a woman suffering from Capgras syndrome and presenting with the following clinical peculiarities: obsessive modality of presentation of the delusional ideation, intrusiveness of such ideation (that even disturbed her sleep), as well as a sense of alienation and utter disgust towards the double. These characteristics bring to mind the typical aspects of obsessive-compulsive disorder. Neuroanatomic investigation, through magnetic resonance imaging, performed on this patient showed alteration of the bilateral semioval centers, which are brain regions associated with the emotion of disgust and often show alterations in subjects suffering from obsessive-compulsive disorder. Hence, neuroimaging allows researchers to put forward the hypothesis of a common neuroanatomic basis for Capgras syndrome and obsessive-compulsive disorder, at least for cases in which the delusional ideation is associated with deep feelings of disgust and presents with a certain pervasiveness. PMID:23950650

  20. Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study.

    Directory of Open Access Journals (Sweden)

    Danielle Di Cavalcanti

    Full Text Available To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome.An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP, Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants. In 80 infants, the test was not performed because it was not available at that time. All infants had negative serology for HIV, syphilis, rubella, cytomegalovirus and toxoplasmosis. A complete transthoracic two-dimensional, M-mode, continuous wave and pulsed wave Doppler and color Doppler echocardiographic (PHILIPS HD11XE or HD15 examination was performed on all infants.14/103 (13.5% echocardiograms were compatible with congenital heart disease: 5 with an ostium secundum atrial septal defect, 8 had a hemodynamically insignificant small apical muscular ventricular septal defect and one infant with dyspnea had a large membranous ventricular septal defect. The echocardiograms considered normal included 45 infants with a persistent foramen ovale and 16 with a minimum patent ductus arteriosus.Preliminarily this study suggests that congenital Zika syndrome may be associated with an increase prevalence of congenital heart disease. However the types of defects noted were septal defects, a proportion of which would not be hemodynamically significant.

  1. Case of Joubert syndrome. CT findings of brainstem and review of literature

    Energy Technology Data Exchange (ETDEWEB)

    Suzuki, Hisaharu; Nakazato, Akihiko; Ikota, Hiroko; Koide, Hiroyoshi (Saitama Medical School (Japan)); Yasaka, Atsushi; Nakada, Yoshitaka

    1983-01-01

    Joubert et al. first reported a familial syndrome which showed episodic tachypena, abnormal eye movement, mental and motor retardation. Since then eighteen cases have been reported in the world. In this paper, we reported a male baby with Joubert syndrome who was observed since the newborn period. He showed episodic tachypnea (respiratory rate over 100/min), apnea, severe mental and motor retardation, no normal eye movements, occipital meningocele, high arched palate and poor sucking. CT scan revealed vermian agenesis, hypoplasia and deformity of brainstem, enlarged fourth ventricle and cisterna magna. EEG showed episodic discharges. Laboratory test investigations including amino acids, lactate, pyruvate, ammonia, chromosomal analysis, IVP and renogram showed no abnormal findings. He showed poor development and at eleventh month of age he died at home because of respiratory arrest. Similar syndromes were reported by Koya et al., Dekaban, Gardner et al., D'Agostino et al. and Friede. They reported syndromes consisting of abnormal respiration, abnormal eye movements, mental and motor retardation, occipital meningocele, retinal degeneration and polycystic kidney. Some causative events may have occurred at 6 to 7 weeks of gestation affecting central nervous system as well as other organs.

  2. CT findings of swyer-james-macleod syndrome in adults: are there any different findings with aging

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Mi Jin; Kim, Joung Sook; Kim, Ji Young; Kim, Soung Hee; Jeong, Myeong Ja; Kim, Soo Hyun; Kim, Jae Hyung [Sanggye Paik Hospital, Inje University College of Medicine, Seoul (Korea, Republic of); Bae, Sang Jin [National Police Hospital, Seoul (Korea, Republic of); Woo, Jeong Joo [Eulji Hospital, Eulji University College of Medicine, Daejeon (Korea, Republic of)

    2007-02-15

    We wanted to evaluate whether there is any different finding on CT with aging for the patients suffering with adult Swyer-James-MacLeod Syndrome (SJMS). We included 11 patients (7 males and 4 females) who underwent chest CT scan among 18 patients who were suspected of suffering with SJMS on chest radiographs. The range of age was from 28 to 85 years (mean: 58.5). We evaluated the diameter of both the main pulmonary artery (MPA) with its ratio, and the diameter of the pulmonary trunk (PT) to evaluate the possibility of pulmonary arterial hypertension, and the presence or absence of bronchiectasis. We also evaluated the relationships between these findings and aging. SJMS affected the left lung in 10 of 11 patients. The mean diameter of the main pulmonary artery of the normal lung was 2.5 cm and it was 1.6 cm in the involved site. The mean ratio of the normal MPA diameter to the involved one was 1.6 and this did not correlate with age ({rho} > 0.1). The mean diameter of the pulmonary trunk was 2.8 cm and this increased with age ({rho} < 0.05). There was bronchiectasis in 6 of 11 patients, and the ratio of bronchiectasis did not correlate with age ({rho} > 0.5). SJMS absolutely affected the left lung much more than right lung. All the patients demonstrated about 1.6 times the compensatory hypertrophy of MPA of the normal lung compared with that of the affected lung on chest CT, which was irrespective of age. The presence or absence of bronchiectasis has no correlation with age.

  3. Clinical features and imaging findings in a case of Capgras syndrome

    Directory of Open Access Journals (Sweden)

    Luca M

    2013-08-01

    Full Text Available Maria Luca,1 Andrea Bordone,1 Antonina Luca,2 Andrea Patti,1 Giuseppe Sortino,3 Carmela Calandra11Department of Medical and Surgery Specialties, Psychiatry Unit, 2Department GF Ingrassia, Section of Neuroscience, 3Department of Diagnostic Imaging, Radiology Unit, University Hospital Policlinico-Vittorio Emanuele, Catania, Sicily, ItalyAbstract: Capgras syndrome consists of the delusional belief that a person or persons have been replaced by doubles or impostors. It can occur in the context of both psychiatric and organic illness, and seems to be related to lesions of the bifrontal and right limbic and temporal regions. Indeed, magnetic resonance imaging has revealed brain lesions in patients suffering from Capgras syndrome. This case study reports the findings of a thorough diagnostic evaluation in a woman suffering from Capgras syndrome and presenting with the following clinical peculiarities: obsessive modality of presentation of the delusional ideation, intrusiveness of such ideation (that even disturbed her sleep, as well as a sense of alienation and utter disgust towards the double. These characteristics bring to mind the typical aspects of obsessive-compulsive disorder. Neuroanatomic investigation, through magnetic resonance imaging, performed on this patient showed alteration of the bilateral semioval centers, which are brain regions associated with the emotion of disgust and often show alterations in subjects suffering from obsessive-compulsive disorder. Hence, neuroimaging allows researchers to put forward the hypothesis of a common neuroanatomic basis for Capgras syndrome and obsessive-compulsive disorder, at least for cases in which the delusional ideation is associated with deep feelings of disgust and presents with a certain pervasiveness.Keywords: Capgras syndrome, magnetic resonance imaging, electroencephalography, obsessive-compulsive disorder, semioval centers

  4. Chronological Evolution of Magnetic Resonance Imaging Findings in Children With Febrile Infection-Related Epilepsy Syndrome.

    Science.gov (United States)

    Rivas-Coppola, Marianna S; Shah, Namrata; Choudhri, Asim F; Morgan, Robin; Wheless, James W

    2016-02-01

    To describe and analyze the chronological evolution of the radiological findings in seven children with febrile infection-related epilepsy syndrome. This is a retrospective study describing the radiological findings and evolution in seven children with febrile infection-related epilepsy syndrome who presented from 2009 to 2013. The children all fit the defined clinical criteria for febrile infection-related epilepsy syndrome; all had a history of normal psychomotor development who presented with acute-onset catastrophic partial status epilepticus associated with a febrile illness or unspecific infectious process. The children were identified from the author's weekly review of the pediatric inpatient service, and then the data were collected and analyzed retrospectively. Six males and one female ranging from 3 months to 9 years of age presented with status epilepticus preceded by a febrile illness. Extensive investigations for infectious, autoimmune, and metabolic etiologies were unremarkable. Multiple antiepileptic medications were attempted, including drug-induced coma in all of them, with poor response. Immunotherapy with intravenous steroids or intravenous immunoglobulin (three patients had both) was tried in six of seven patients with a poor response. Ketogenic diet was initiated in four of seven patients with limited response. Serial magnetic resonance imaging studies, done from the initial presentation through 18 months of follow-up, showed evolution from normal imaging to severe cerebral atrophy. Progressive cytotoxic edema involving mostly bilateral hippocampi and temporal lobes was appreciated in one to three weeks. At one month from seizure onset, mild to moderate cerebral atrophy and hippocampal sclerosis was appreciated that continued to progress over the next year. After six to twelve months, most of the patients showed moderate to severe cerebral atrophy and by one year, cerebellar atrophy was also appreciated. Febrile infection-related epilepsy

  5. Impingement syndrome of the ankle following supination external rotation trauma: MR imaging findings with arthroscopic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Schaffler, Gottfried J. [Department of Radiology, University of California San Francisco, 350 Parnassus Avenue, Suite 150, San Francisco, CA 94117 (United States); Department of Radiology, University Hospital Graz, Auenbruggerplatz 9, 8036 Graz (Austria); Tirman, Phillip F.J.; Stoller, David W. [San Francisco Magnetic Resonance Center, 3333 California Street, Suite 105, San Francisco, CA 94118 (United States); Genant, Harry K. [Department of Radiology, University of California San Francisco, 350 Parnassus Avenue, Suite 150, San Francisco, CA 94117 (United States); Ceballos, Cecar; Dillingham, Michael F. [Sports Orthopedics and Rehabilitation, 2884 Sand Hill Rd., Suite 110, Menlo Park, CA 94025 (United States)

    2003-06-01

    Our objective was to identify MR imaging findings in patients with syndesmotic soft tissue impingement of the ankle and to investigate the reliability of these imaging characteristics to predict syndesmotic soft tissue impingement syndromes of the ankle. Twenty-one ankles with chronic pain ultimately proven to have anterior soft tissue impingement syndrome were examined by MR imaging during January 1996 to June 2001. The MR imaging protocol included sagittal and coronal short tau inversion recovery (STIR), sagittal T1-weighted spin echo, axial and coronal proton-density, and T2-weighted spin-echo sequences. Nineteen ankles that underwent MR imaging during the same period of time and that had arthroscopically proven diagnosis different than impingement syndrome served as a control group. Fibrovascular scar formations distinct from the syndesmotic ligaments possibly related to syndesmotic soft tissue impingement were recorded. Arthroscopy was performed subsequently in all patients and was considered the gold standard. The statistical analysis revealed an overall frequency of scarred syndesmotic ligaments of 70% in the group with ankle impingement. Fibrovascular scar formations distinct from the syndesmotic ligaments presented with low signal intensity on T1-weighted images and remained low to intermediate in signal intensity on T2-weighted MR imaging. Compared with arthroscopy, MR imaging revealed a sensitivity of 89%, a specificity of 100%, and a diagnostic accuracy of 93% for scarred syndesmotic ligaments. The frequency of scar formation distinct from the syndesmotic ligaments in patients with impingement syndrome of the ankle was not statistically significantly higher than in the control group. In contrast to that, anterior tibial osteophytes and talar osteophytes were statistically significantly higher in the group with anterior impingement than in the control group. Conventional MR imaging was found to be insensitive for the diagnosis of syndesmotic soft tissue

  6. Cooperative Research to Evaluate an Incidental Catch Distribution Forecast

    Directory of Open Access Journals (Sweden)

    Sara M. Turner

    2017-05-01

    Full Text Available Concern over incidental catches in commercial fisheries has been increasing, and while simple mitigation strategies have been effective, few effective mitigation strategies have been established for more complex species interactions. Incidental catches of alewife (Alosa pseudoharengus and blueback herring (A. aestivalis in the commercial Atlantic herring (Clupea harengus fishery have received substantial attention on the Northeast U.S. continental shelf, despite an existing bycatch avoidance program. This study evaluates the utility of existing species distribution forecasts to predict river herring catches in the southern New England small mesh bottom trawl Atlantic herring fishery, with the ultimate goal of incorporating incidental catch forecasts into the bycatch avoidance program. Commercial Atlantic herring bottom trawl vessels assisted with field-based evaluation of alewife, blueback herring, and Atlantic herring species distribution forecast models. Vessels were equipped with conductivity, temperature, and depth probes, and sampling occurred throughout the fishery season (January–March. Locations of expected low and high forecasted incidental catches were sampled, as well as locations the captain expected to find low and high incidental catches. This allowed us to sample within the spatial area the fishery occurs, and to evaluate the forecasted conditions, and predictions, at the spatial scale of the fishery. Catch differences between high and low probability stations were small and variable, as were differences in modeled probability of species presence. No differences were observed between observations at model-predicted stations and captain-selected stations. The sampling provided a better understanding of the potential effectiveness of distribution forecasts for further reducing incidental catches. Existing models have limited use at the spatial scale of this fishery, but could be improved by developing models with fishery

  7. Birt-Hogg-Dubé syndrome: characteristic CT findings differentiating it from other diffuse cystic lung diseases.

    Science.gov (United States)

    Lee, Jung Eun; Cha, Yoon Ki; Kim, Jeung Sook; Choi, Jin Ho

    2017-01-01

    Birt-Hogg-Dubé (BHD) syndrome is an uncommon, autosomal dominant, multiorgan systemic disorder manifesting as cutaneous fibrofolliculomas, lung cysts with or without spontaneous pneumothorax, and renal tumors. Spontaneous pneumothorax and lung cysts on chest computed tomography (CT) should lead to the inclusion of BHD syndrome in the differential diagnosis, because these findings may develop earlier than other clinical manifestations. Here, we review and describe the characteristic findings of BHD syndrome. The number, shape, size, and distribution of the lung cysts can help to differentiate BHD syndrome from other diffuse cystic lung diseases. Knowledge of the chest CT findings of BHD syndrome may lead to a correct diagnosis and the initiation of an appropriate work-up in order to prevent pneumothorax and for the early detection of renal tumors.

  8. Bouveret's syndrome: CT and ultrasonography findings. Sindrome de Bouveret: hallazgos en ecografia y TC

    Energy Technology Data Exchange (ETDEWEB)

    Galant Herrero, J.; Ripolles Gonzalez, T.; Martinez Rodrigo, J.; Marti Bonmati, L.; Ferrer Puchol, M.D.

    1993-10-01

    Bouveret's syndrome is a very rare cause of obstruction of gastric emptying. It is produced by the migration of a biliary calculus through a cholecystogastric or cholecystoduodenal fistula. We present a case of cholecystogastric fistula associated with this syndrome, and the ultrasonographic and computerized tomography findings. Author (6 refs)

  9. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.

    NARCIS (Netherlands)

    Ceruti, S.; Stinckens, C.I.C.; Cremers, C.W.R.J.; Casselman, J.W.

    2002-01-01

    OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome. STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome. SETTING: Department of medical imaging and magnetic

  10. INCIDENTAL VOCABULARY LEARNING THROUGH READING

    OpenAIRE

    Holly Warzecha, M.A. TESOL

    2017-01-01

    The purpose of the following paper is to take a closer look at the benefits of incidental learning through reading, with a specific focus on vocabulary acquisition. The teaching of vocabulary has traditionally been an explicit process where the target vocabulary is taken out of context and taught separately. However, this kind of explicit teaching and learning may only take into account a form-meaning connection. Therefore, this paper explores research on incidental learning and specifically ...

  11. Computed tomography findings in 10 cases of iliac vein compression (May-Thurner) syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Oguzkurt, Levent [Baskent University, Adana Teaching and Medical Research Center, Department of Radiology, Adana (Turkey)]. E-mail: loguzkurt@yahoo.com; Tercan, Fahri [Baskent University, Adana Teaching and Medical Research Center, Department of Radiology, Adana (Turkey); Pourbagher, M. Ali [Baskent University, Adana Teaching and Medical Research Center, Department of Radiology, Adana (Turkey); Kizilkilic, Osman [Baskent University, Adana Teaching and Medical Research Center, Department of Radiology, Adana (Turkey); Turkoz, Riza [Baskent University, Adana Teaching and Medical Research Center, Department of Thoracic and Cardiovascular Surgery, Adana (Turkey); Boyvat, Fatih [Baskent University, Faculty of Medicine, Department of Radiology, Ankara (Turkey)

    2005-09-01

    Objective: To present the computed tomography (CT) findings for the iliac veins of 10 patients who had left-sided lower extremity deep vein thrombosis due to iliac vein compression syndrome. Materials and methods: The CT findings for 10 cases of left-sided acute or chronic deep vein thrombosis caused by iliac vein compression syndrome were retrospectively evaluated. The patients were five women and five men (mean age {+-} S.D., 49.9 {+-} 15.6 years). In each patient with iliac vein compression syndrome, the diagnosis of the compression was established by venography performed during endovascular treatment. Diameter of the left common iliac vein was also measured in 14 control subjects without any lower extremity venous disease for comparison. Results: In all 10 cases, CT images in the transverse plane demonstrated the left common iliac vein being compressed by the overlying right common iliac artery. The mean diameter at the origin of the left common iliac vein (3.5 mm) in patients group was much smaller than the mean diameter of the same vein (11.5 mm) in the control group (p < 0.01). The mean percent stenosis of the left common iliac vein due to compression by the artery was 68%. Conclusion: Pelvic CT images in the transverse plane are useful for detecting iliac vein compression by the overlying right common iliac artery in patients with left-sided deep vein thrombosis. Radiologists should be aware of this imaging finding of iliac vein compression by the artery where the inferior vena cava bifurcates into the common iliac veins.

  12. Computed tomography findings in 10 cases of iliac vein compression (May-Thurner) syndrome

    International Nuclear Information System (INIS)

    Oguzkurt, Levent; Tercan, Fahri; Pourbagher, M. Ali; Kizilkilic, Osman; Turkoz, Riza; Boyvat, Fatih

    2005-01-01

    Objective: To present the computed tomography (CT) findings for the iliac veins of 10 patients who had left-sided lower extremity deep vein thrombosis due to iliac vein compression syndrome. Materials and methods: The CT findings for 10 cases of left-sided acute or chronic deep vein thrombosis caused by iliac vein compression syndrome were retrospectively evaluated. The patients were five women and five men (mean age ± S.D., 49.9 ± 15.6 years). In each patient with iliac vein compression syndrome, the diagnosis of the compression was established by venography performed during endovascular treatment. Diameter of the left common iliac vein was also measured in 14 control subjects without any lower extremity venous disease for comparison. Results: In all 10 cases, CT images in the transverse plane demonstrated the left common iliac vein being compressed by the overlying right common iliac artery. The mean diameter at the origin of the left common iliac vein (3.5 mm) in patients group was much smaller than the mean diameter of the same vein (11.5 mm) in the control group (p < 0.01). The mean percent stenosis of the left common iliac vein due to compression by the artery was 68%. Conclusion: Pelvic CT images in the transverse plane are useful for detecting iliac vein compression by the overlying right common iliac artery in patients with left-sided deep vein thrombosis. Radiologists should be aware of this imaging finding of iliac vein compression by the artery where the inferior vena cava bifurcates into the common iliac veins

  13. Van Wyk and Grumbach syndrome revisited: imaging and clinical findings in pre- and postpubertal girls

    International Nuclear Information System (INIS)

    Browne, Lorna P.; Guillerman, R.P.; Boswell, Hillary B.; Crotty, Eric J.; O'Hara, Sara M.; Birkemeier, Krista L.

    2008-01-01

    In 1960 Van Wyk and Grumbach described a syndrome of juvenile hypothyroidism, precocious puberty and ovarian enlargement. These findings undergo complete regression with thyroid hormone replacement therapy. This diagnosis can be made on the basis of imaging findings and thyroid function analysis, avoiding surgery. To relate the distinctive clinical and imaging features and putative pathophysiological mechanism of a series of patients with Van Wyk and Grumbach syndrome (VWGS). Patients with VWGS diagnosed at two large children's hospitals over a 6-year period beginning in 1999 were retrospectively reviewed. A literature review was also conducted. Five female patients were diagnosed with cystic ovarian enlargement and hypothyroidism at ages ranging from 9 to 17 years. Isosexual precocious puberty was found in prepubescent patients. Associated findings included delayed bone age, ascites, and pleural and pericardial effusions. Ovarian cyst involution occurred following treatment of the hypothyroidism. The association of primary hypothyroidism with cystic ovarian enlargement and precocious puberty is important to recognize. In the absence of suspected ovarian torsion, surgery is unnecessary, as cyst regression occurs after appropriate thyroid hormone replacement. Noncompliance with hormone replacement therapy should be considered when cystic ovarian enlargement is noted in patients with a history of hypothyroidism. (orig.)

  14. Van Wyk and Grumbach syndrome revisited: imaging and clinical findings in pre- and postpubertal girls

    Energy Technology Data Exchange (ETDEWEB)

    Browne, Lorna P.; Guillerman, R.P. [Texas Children' s Hospital, Department of Diagnostic Imaging, Houston, TX (United States); Boswell, Hillary B. [Texas Children' s Hospital, Department of Gynecology, Houston, TX (United States); Crotty, Eric J.; O' Hara, Sara M.; Birkemeier, Krista L. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States)

    2008-05-15

    In 1960 Van Wyk and Grumbach described a syndrome of juvenile hypothyroidism, precocious puberty and ovarian enlargement. These findings undergo complete regression with thyroid hormone replacement therapy. This diagnosis can be made on the basis of imaging findings and thyroid function analysis, avoiding surgery. To relate the distinctive clinical and imaging features and putative pathophysiological mechanism of a series of patients with Van Wyk and Grumbach syndrome (VWGS). Patients with VWGS diagnosed at two large children's hospitals over a 6-year period beginning in 1999 were retrospectively reviewed. A literature review was also conducted. Five female patients were diagnosed with cystic ovarian enlargement and hypothyroidism at ages ranging from 9 to 17 years. Isosexual precocious puberty was found in prepubescent patients. Associated findings included delayed bone age, ascites, and pleural and pericardial effusions. Ovarian cyst involution occurred following treatment of the hypothyroidism. The association of primary hypothyroidism with cystic ovarian enlargement and precocious puberty is important to recognize. In the absence of suspected ovarian torsion, surgery is unnecessary, as cyst regression occurs after appropriate thyroid hormone replacement. Noncompliance with hormone replacement therapy should be considered when cystic ovarian enlargement is noted in patients with a history of hypothyroidism. (orig.)

  15. Heterochromia iridis and pertinent clinical findings in patients with glaucoma associated with Sturge-Weber syndrome.

    Science.gov (United States)

    Aggarwal, Nalini K; Gandham, Sai B; Weinstein, Rebecca; Saltzmann, Robert; Walton, David S

    2010-01-01

    To examine the clinical and gonioscopic findings in patients with glaucoma associated with Sturge-Weber syndrome. Retrospective review of clinical findings of all patients with Sturge-Weber syndrome who presented between January 1978 and December 2003. Koeppe gonioscopy was performed under general anesthesia and findings were photographed when feasible. Iris color was documented by color sketch or photograph at initial presentation. Fisher exact test was used to determine whether the presence of heterochromia was statistically higher in the glaucomatous group. Fifty-five patients who met inclusion criteria were identified, of whom 44 (80%) had glaucoma. Unilateral glaucoma was diagnosed in 30 eyes and bilateral glaucoma in 14 eyes, yielding 58 eyes with glaucoma and 52 eyes without. Gonioscopic examination revealed distinct anatomic abnormalities in the anterior chamber angle in 32 (55%) of the glaucomatous eyes in contrast to the normal fellow eyes in patients with unilateral glaucoma and to the patients without glaucoma. Heterochromia iridis with darker iris on the glaucomatous side was present in 11 of the 30 patients with unilateral glaucoma (37%, P heterochromia iridis may be judicious in these patients. Copyright 2010, SLACK Incorporated.

  16. Ocular Findings in Children With 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Gokturk, Bahar; Topcu-Yilmaz, Pinar; Bozkurt, Banu; Yildirim, Mahmut Selman; Guner, Sukru Nail; Sayar, Esra Hazar; Reisli, Ismail

    2016-07-01

    To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222]. Copyright 2016, SLACK Incorporated.

  17. Hepatic Scintigraphic Findings of Budd-Chiari Syndrome due to Inferior Vena Caval Obstruction

    International Nuclear Information System (INIS)

    Kim, Sung Hoon; Chung, Soo Kyo; Byun, Jae Young; Lee, Sung Yong; Shinn, Kyung Sub; Kim, Choon Yul; Bahk, Yong Whee

    1988-01-01

    Budd-Chiari syndrome (BCS) is a rare clinical entity characterized by post-sinusoidal portal hypertension caused by the obstruction to the hepatic vein outflow. The diagnosis is suggested by hepatic scintigraphy and is usually confirmed by hepatic venography, inferior vena cavography and biopsy. The scintigraphic finding of BCS caused by the obstruction of main hepatic vein has been reported to consist typically of hypertrophy of the caudate lobe with increased radionuclide accumulation. Such a typical finding has been accounted for by the fact that the venous outflow from the caudate lobe is preserved when the main hepatic vein is obstructed. But usually, the hepatic venous outflow from the caudate lobe is also obstructed in BCS due to inferior vena caval obstruction. So hepatic scintigraphic findings of BCS due to inferior vena caval obstruction show different findings as compared with the BCS due to hepatic vein obstruction. We evaluate the hepatic scintigrams of the 13 cases of BCS due to inferior vena caval obstruction and review the literatures. The results are as follows: 1) We cannot observe the caudate lobe hypertrophy with increased uptake, which is known as a classic finding in BCS due to hepatic vein obstruction. 2) The most prominent hepatic scintigraphic findings of BCS are nonhomogenous uptake in the liver with extrahepatic uptake in the all cases. 3) We can see cold areas at the superior aspect of right hepatic lobe in 7 cases (54%). This is a useful finding suggesting BCS due to inferior vena caval obstruction.

  18. MRI findings in Tolosa-Hunt syndrome before and after systemic corticosteroid therapy

    International Nuclear Information System (INIS)

    Cakirer, Sinan

    2003-01-01

    Tolosa-Hunt syndrome (THS) is characterized by painful ophthalmoplegia due to a granulomatous inflammation in the cavernous sinus. Corticosteroid therapy dramatically resolves both the clinical and radiological findings of THS. We present MRI findings of six patients with a clinical history of at least one episode of unilateral or bilateral orbital-periorbital pain, clinical findings of associated paresis of one or more of 3rd, 4th, 5th or 6th cranial nerves. All of the patients revealed an enlargement of the symptomatic cavernous sinus on magnetic resonance imaging (MRI) scans. Five patients revealed total resolution of the clinical findings within 1-8 weeks, following systemic corticosteroid treatment. One patient revealed only minor regression of clinical findings within 2 weeks after the initiation of the treatment, so the cavernous sinus lesion was reevaluated as meningioma on MRI, and the patient underwent surgical resection of the mass with resultant histopathological finding of cavernous sinus meningioma. A follow-up MRI scan was performed for five patients at the end of 8-weeks of steroid therapy. Three of these five patients showed total resolution of the cavernous sinus lesions whereas two of them revealed a partial regression of the cavernous sinus lesions. MRI findings before and after systemic corticosteroid therapy are important diagnostic criteria to put the definitive diagnosis of THS and to differentiate it from other cavernous sinus lesions that simulate THS both clinically and radiologically

  19. MRI findings in Tolosa-Hunt syndrome before and after systemic corticosteroid therapy

    Energy Technology Data Exchange (ETDEWEB)

    Cakirer, Sinan E-mail: scakirer@yahoo.com

    2003-02-01

    Tolosa-Hunt syndrome (THS) is characterized by painful ophthalmoplegia due to a granulomatous inflammation in the cavernous sinus. Corticosteroid therapy dramatically resolves both the clinical and radiological findings of THS. We present MRI findings of six patients with a clinical history of at least one episode of unilateral or bilateral orbital-periorbital pain, clinical findings of associated paresis of one or more of 3rd, 4th, 5th or 6th cranial nerves. All of the patients revealed an enlargement of the symptomatic cavernous sinus on magnetic resonance imaging (MRI) scans. Five patients revealed total resolution of the clinical findings within 1-8 weeks, following systemic corticosteroid treatment. One patient revealed only minor regression of clinical findings within 2 weeks after the initiation of the treatment, so the cavernous sinus lesion was reevaluated as meningioma on MRI, and the patient underwent surgical resection of the mass with resultant histopathological finding of cavernous sinus meningioma. A follow-up MRI scan was performed for five patients at the end of 8-weeks of steroid therapy. Three of these five patients showed total resolution of the cavernous sinus lesions whereas two of them revealed a partial regression of the cavernous sinus lesions. MRI findings before and after systemic corticosteroid therapy are important diagnostic criteria to put the definitive diagnosis of THS and to differentiate it from other cavernous sinus lesions that simulate THS both clinically and radiologically.

  20. Imaging findings in the rare catastrophic variant of the primary antiphospholipid syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Thuerl, Christina; Altehoefer, Carsten; Laubenberger, Joerg [Freiburg Univ. (Germany). Abt. Radiologie; Spyridonidis, Alexandros [Freiburg Univ. (DE). Abt. Innere Medizin 1 (Haematologie und Onkologie)

    2002-03-01

    We report imaging findings in a case of the rare catastrophic variant of antiphospholipid syndrome (CAPS) characterized by widespread microvascular occlusions, which may lead to multiple organ failure. We present a case of a 66-year-old woman with bone marrow necrosis, acute acalculous cholecystitis (AAC), focal liver necrosis, subtle patchy splenic infarctions, and bilateral adrenal infarction. The demonstration of multiple microvascular organ involvement (three or more) is crucial for the diagnosis of the catastrophic variant of APS. This can be performed radiologically intra-vitam. Imaging can even reveal subclinical microinfarctions, which are often only diagnosed at autopsy. (orig.)

  1. Imaging findings in the rare catastrophic variant of the primary antiphospholipid syndrome

    International Nuclear Information System (INIS)

    Thuerl, Christina; Altehoefer, Carsten; Laubenberger, Joerg

    2002-01-01

    We report imaging findings in a case of the rare catastrophic variant of antiphospholipid syndrome (CAPS) characterized by widespread microvascular occlusions, which may lead to multiple organ failure. We present a case of a 66-year-old woman with bone marrow necrosis, acute acalculous cholecystitis (AAC), focal liver necrosis, subtle patchy splenic infarctions, and bilateral adrenal infarction. The demonstration of multiple microvascular organ involvement (three or more) is crucial for the diagnosis of the catastrophic variant of APS. This can be performed radiologically intra-vitam. Imaging can even reveal subclinical microinfarctions, which are often only diagnosed at autopsy. (orig.)

  2. Whole body computed tomographic findings of each one case with primary aldosteronism and Cushing syndrome

    International Nuclear Information System (INIS)

    Kamata, Shuji; Kawamura, Koro; Nakamura, Motoyuki

    1980-01-01

    We here report each one case with primary aldosteronism (male, 28 years old) and Cushing syndrome (female, 37 years old). Both of the cases showed characteristic clinical signs of hypertension and typical laboratory findings of adreno-hormonal assays. In performance of whole body computed tomography, clear pictures of tumorous adenomas in both cases were taken and the sizes of adenomas in picture were completely same as the masses obtained by the lateral adrenectomies. As a result, the whole body computed tomography is very useful to diagnose the diseases of adrenal adenoma and hyperplasia. (author)

  3. Radiological findings in three acquired immunodeficiency syndrome patients with Rhodococcus equi pneumonia

    International Nuclear Information System (INIS)

    Liu Jinxin; Tang Xiaoping; Zhang Lieguang

    2011-01-01

    Objective: To study the imaging appearances of Rhodococcus equi pneumonia in three patients with acquired immunodeficiency syndrome ( AIDS). Methods: Thoracic imaging appearances of' Rhodococcus equi pneumonia in three patients with AIDS were retrospectively analyzed. Results: The chest radiograph showed patchy consolidations and small nodules (n=3), large consolidations with multiple cavitations (n=2). CT showed large lobar or segmental consolidations with multiple cavitations (n=2), patchy consolidations (n=2), bronchiectasis (n=1), multiple small centrilobular nodules (n=2) and tree-in-bud patterns (n=2). Conclusion: The most common radiological findings in AIDS patients with Rhodococcus equi pulmonary infection are large consolidations with multiple cavitations and multiple centrilobular nodules. (authors)

  4. Imaging findings in a child with calcineurin inhibitor-induced pain syndrome after bone marrow transplant for beta thalassemia major

    Energy Technology Data Exchange (ETDEWEB)

    Ayyala, Rama S.; Arnold, Staci D.; Bhatia, Monica; Dastgir, Jahannaz [Columbia University Medical Center, Morgan Stanley Children' s Hospital, Department of Radiology, New York, NY (United States)

    2016-10-15

    Calcineurin inhibitor-induced pain syndrome is an entity recognized in patients on immunosuppressive therapy after transplantation. Diagnosis is characterized by onset of pain beginning in the setting of an elevated calcineurin-inhibitor trough level. Reducing the medication dose relieves symptoms. Imaging findings can be nonspecific, including bone marrow edema and periosteal reaction. We present the unique case of calcineurin inhibitor-induced pain syndrome in a child and review the imaging findings. (orig.)

  5. Imaging findings in a child with calcineurin inhibitor-induced pain syndrome after bone marrow transplant for beta thalassemia major

    International Nuclear Information System (INIS)

    Ayyala, Rama S.; Arnold, Staci D.; Bhatia, Monica; Dastgir, Jahannaz

    2016-01-01

    Calcineurin inhibitor-induced pain syndrome is an entity recognized in patients on immunosuppressive therapy after transplantation. Diagnosis is characterized by onset of pain beginning in the setting of an elevated calcineurin-inhibitor trough level. Reducing the medication dose relieves symptoms. Imaging findings can be nonspecific, including bone marrow edema and periosteal reaction. We present the unique case of calcineurin inhibitor-induced pain syndrome in a child and review the imaging findings. (orig.)

  6. CT-findings in pain syndromes originated from thoraco-lumbar junction

    International Nuclear Information System (INIS)

    Dimitrov, I.; Karadjova, M.; Malchanova, V.

    2007-01-01

    The thoraco-lumbar junction syndrome imitates, as far as clinical symptoms are concerned, low back pain, caused by disc protrusion in the lower lumbar vertebral segments. It is manifested by referred pain in the area, innervated by posterior and anterior primary rami (dorsal and ventral rami), belonging to thoraco-lumbar junction vertebral segments (Th11-L2). Eighty one patients with clinically diagnosed thoraco-lumbar junction syndrome underwent CT-investigations, that aimed establishing pathological processes, leading to this clinical symptomatology. 148 vertebral levels were examined. In 67 patients we scanned two consecutive levels to find the type of change of the zygapophyseal joints. We found facet tropism (asymmetry) in 72 patients (88.8%) or in 117 levels (79.6%), degenerated faced joints in 63 patients (77.8%), pathology of the intervertebral disc - in 33 patients (43.1%) including 5 patients (6.2%) with disc prolapse. When investigating on two subsequent segments (Th11-Th12 and Th12-L1) sudden anatomical change in orientation of facets occurred in 55 patients (82%). Our findings support the hypothesis of the facet-joint origin of this ailment. (authors)

  7. Dermatoglyphic features in Prader-Willi syndrome with respect to chromosomal findings

    Science.gov (United States)

    Reed, Terry; Butler, Merlin G.

    2017-01-01

    Dermatoglyphic findings were compared in 38 Prader-Willi syndrome (PWS) patients and 270 normal controls. Twenty-one of the PWS patients had an interstitial deletion of the proximal long arm of chromosome 15 and seventeen PWS cases had normal chromosomes. Findings in PWS are not diagnostic but do show some consistent deviations that can be used in the clinical evaluation of PWS patients. These include a displacement of the axial triradius away from the normal proximal position, an excess of whorls primarily on the thumbs, radial termination of the palmar A mainline, and lack of arches on the big toe. Deletion PWS patients were much more homogeneous than non-deletion cases with respect to plantar patterns. The previously reported deficit of plantar pattern intensity was restricted only to deletion PWS and was characterized by a lack of plantar interdigital II–IV patterns with almost exclusively hallucal distal loops. PMID:6713710

  8. What are the most common first-trimester ultrasound findings in cases of Turner syndrome?

    Science.gov (United States)

    Wiechec, Marcin; Knafel, Anna; Nocun, Agnieszka; Wiercinska, Ewa; Ludwin, Artur; Ludwin, Inga

    2017-07-01

    To identify the most common first-trimester ultrasound findings in Turner syndrome (TS). To evaluate which first-trimester findings can be best used to predict the likelihood of TS. This was a prospective study, based on singleton pregnancies. The referrals included 6210 patients. Scan protocol covered a review of the early fetal anatomy and markers of aneuploidy. Study population comprised 5644 pregnancies: 5613 with a normal karyotype and 31 cases of TS. Statistically significant differences (p  3.5 mm and right dominant heart (RDH) augmented the risk of TS risk by 991 and 314 times, respectively. First-trimester sonography is a feasible method to identify the most characteristic features of TS fenotype. When the first-trimester pattern of TS is considered, a highly thickened NT, FHR above the 95th percentile, abnormal ductus venosus velocimetry, fetal hydrops, and RDH should be specifically searched for.

  9. Ocular abnormalities in congenital Zika syndrome: are the ophthalmoscopic findings "the top of the iceberg"?

    Science.gov (United States)

    de Oliveira Dias, João Rafael; Ventura, Camila V; de Paula Freitas, Bruno; Prazeres, Juliana; Ventura, Liana O; Bravo-Filho, Vasco; Aleman, Tomas; Ko, Albert Icksang; Zin, Andréa; Belfort, Rubens; Maia, Mauricio

    2018-04-23

    Zika virus (ZIKV) is an arbovirus mainly transmitted to humans by mosquitoes from Aedes genus. Other ways of transmission include the perinatal and sexual routes, blood transfusion, and laboratory exposure. Although the first human cases were registered in 1952 in African countries, outbreaks were only reported since 2007, when entire Pacific islands were affected. In March 2015, the first cases of ZIKV acute infection were notified in Brazil and, to date, 48 countries and territories in the Americas have confirmed local mosquito-borne transmission of ZIKV. Until 2015, ZIKV infection was thought to only cause asymptomatic or mild exanthematous febrile infections. However, after explosive ZIKV outbreaks in Polynesia and Latin American countries, it was confirmed that ZIKV could also lead to Guillain-Barré syndrome and congenital birth abnormalities. These abnormalities, which can include neurologic, ophthalmologic, audiologic, and skeletal findings, are now considered congenital Zika syndrome (CZS). Brain abnormalities in CZS include cerebral calcifications, malformations of cortical development, ventriculomegaly, lissencephaly, hypoplasia of the cerebellum and brainstem. The ocular findings, which are present in up to 70% of infants with CZS, include iris coloboma, lens subluxation, cataract, congenital glaucoma, and especially posterior segment findings. Loss of retinal pigment epithelium, the presence of a thin choroid, a perivascular choroidal inflammatory infiltrate, and atrophic changes within the optic nerve were seen in histologic analyses of eyes from deceased fetuses. To date, there is no ZIKV licensed vaccines or antiviral therapies are available for treatment. Preventive measures include individual protection from mosquito bites, control of mosquito populations and the use of barriers measures such as condoms during sexual intercourse or sexual abstinence for couples either at risk or after confirmed infection. A literature review based on studies that

  10. MRI findings in the patients with the presumptive clinical diagnosis of Tolosa-Hunt syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Cakirer, Sinan [Department of Radiology, Neuroradiology Section, Istanbul Sisli Etfal Hospital, 81120 Istanbul (Turkey)

    2003-01-01

    The aim of this study was to present our experience in MRI diagnosis of 23 patients with the clinical findings suggesting Tolosa-Hunt syndrome (THS). Cranial MRI studies of the patients with a clinical history of at least one episode of unilateral or bilateral orbital and periorbital pain, and associated paresis of one or more of third to sixth cranial nerves, were performed on a 1.5-T MRI scanner. Whereas 5 patients had the diagnosis of THS, paracavernous meningiomas in 4 patients, pituitary macroadenomas with cavernous sinus infiltration in 3 patients, Meckel's cave neurinoma in 1 patient, and suprasellar epidermoid in 1 patient were surgically proven MRI findings. Other pathological MRI findings were leptomeningeal metastases in 3 patients, granulomatous pachymeningitis sequelae in 2 patients, and aneurysm with compression on cavernous sinus in 1 patient. Three patients had normal MRI findings. The incidence of radiologically proven diagnosis of THS among the patients with the clinical findings suggesting THS seemed to be low in our study. In conclusion, MRI is the most valuable imaging technique to distinguish THS from other THS-like entities, and permits a precise assessment, management, and therapeutic planning of the underlying pathological conditions. (orig.)

  11. Hepatic lipidosis and other test findings in two captive adult porcupines (Erethizon dorsatum) dying from a "sudden death syndrome".

    Science.gov (United States)

    Barigye, Robert; Schamber, Ev; Newell, Teresa K; Dyer, Neil W

    2007-11-01

    Routine postmortem examination and histologic evaluation of tissue sections demonstrated hepatic lipidosis (HL) in 2 adult captive porcupines with a history of sudden death. The male porcupine had a markedly enlarged pale liver that microscopically showed large unilocular vacuoles within hepatocellular cytoplasm. The periparturient female had similar but less marked hepatic lesions and an incidental pulmonary mycosis. These findings suggest HL as an important differential of spontaneous death in captive porcupines. It is hypothesized that in addition to the widely documented causes, HL in captive porcupines may be specifically associated with nutritional imbalances caused by the feeding of unsuitable commercial diets. The possible association of the condition with dietary and other factors in captive porcupines needs to be thoroughly investigated.

  12. Aicardi syndrome: a case report and radiologic findings; Sindrome de Aicardi: relato de caso e achados radiologicos

    Energy Technology Data Exchange (ETDEWEB)

    Granzotto, Enrico; Prado, Cecilia Hissae Miyake Almeida; Barros, Andre Della Barba; Botter, Carlos Eduardo [Clinica Radiologica Documenta Ltda., Ribeirao Preto, SP (Brazil)]. E-mail: gram79@gmail.com; Mendes, Rozana de Miranda [Santa Casa de Ribeirao Preto, SP (Brazil); Granzotto, Ticiana [Curso de Especializacao em Oftalmologia Professor Ivo Correa Meyer de Porto Alegre, RS (Brazil)

    2008-07-01

    The authors report the findings of Aicardi syndrome, a disease of unknown etiology composed of multiple spasms, chorioretinal lacunae and agenesis of the corpus callosum. They present a case of Aicardi syndrome with characteristic clinical presentation and magnetic resonance imaging findings. The disease, despite being considered rare, has characteristic imaging findings. Over the past years magnetic resonance imaging has improved its ability in demonstrating other findings besides agenesis of the corpus callosum, making the radiologist's role very important in the diagnostic suspicion of this disease. (author)

  13. Incidental Detection of Arteria Lusoria During Transradial Coronary Intervention.

    Science.gov (United States)

    Moorthy, Nagaraja; Setty, Natraj; Kharge, Jayashree; Raghu, Thagachagere R; Nanjappa, Manjunath C

    2017-08-01

    Transradial access has become popular and preferred approach in coronary interventions due to high success rate, low risk of complications and patients' comfort. However various anatomical variations and anomalies may pose technical challenge. Arteria lusoria is an uncommon condition which is technically challenging and may warrant cross-over to alternate access. We report a middle aged male presenting with acute coronary syndrome in which arteria lusoria was incidentally detected during right transradial coronary intervention.

  14. Carotid ultrasonographic and brain computerized tomographic findings in patients with vascular ocular syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Iwamoto, Toshihiko; Matsushima, Chikage; Shimizu, Souichirou; Takasaki, Masaru; Iwasaki, Takuya; Usui, Masahiko [Tokyo Medical Coll. (Japan)

    2002-02-01

    To clarify the characteristics of cerebrovascular lesions in subtypes of vascular ocular syndrome, including amaurosis fugax (AF), retinal artery occlusion (RAO), and retinal vein occlusion (RVO), 93 patients with vascular ocular syndrome were studied by means of carotid ultrasonography (US) and brain computerized tomography (CT). The subjects comprised 21 patients with AF, 37 with RAO, and 35 with RVO who were sequentially given these diagnoses by the department of ophthalmology. On the basis of US findings, carotid lesions were defined as the presence of plaque or stenotic changes. CT findings were assessed for the presence and distribution of low-density areas (LDAs). Mean age was similar in each group, ranging from 64.5 to 67.4 years. The RAO group had high rates of men, hypertension, and smokers. US showed that the prevalence of carotid lesions ipsilateral to the affected eye was high in the RAO group and that severe stenosis and ulcerated plaque were present in 28.6% of the AF group and 45.9% of the RAO group. On CT examination, cerebral infarctions appeared as LDAs in about 10% of the patients in each group, and the incidence and distribution of LDAs were similar. Of 13 patients with cerebral infarction, only 2 were presumably due to carotid lesions; the others had a variety of causes. The discrepancy between US and CT findings was attributed to the small number of patients with cerebral infarction, since most patients had visual defects as an initial symptom. Our results suggest that extracranial carotid lesions, considered to be a major risk factor for stroke, should be carefully assessed in patients with AF or RAO to prevent further stroke. (author)

  15. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.

    Science.gov (United States)

    Angulo, M A; Butler, M G; Cataletto, M E

    2015-12-01

    Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. There are three main genetic subtypes in PWS: paternal 15q11-q13 deletion (65-75 % of cases), maternal uniparental disomy 15 (20-30 % of cases), and imprinting defect (1-3 %). DNA methylation analysis is the only technique that will diagnose PWS in all three molecular genetic classes and differentiate PWS from Angelman syndrome. Clinical manifestations change with age with hypotonia and a poor suck resulting in failure to thrive during infancy. As the individual ages, other features such as short stature, food seeking with excessive weight gain, developmental delay, cognitive disability and behavioral problems become evident. The phenotype is likely due to hypothalamic dysfunction, which is responsible for hyperphagia, temperature instability, high pain threshold, hypersomnia and multiple endocrine abnormalities including growth hormone and thyroid-stimulating hormone deficiencies, hypogonadism and central adrenal insufficiency. Obesity and its complications are the major causes of morbidity and mortality in PWS. An extensive review of the literature was performed and interpreted within the context of clinical practice and frequently asked questions from referring physicians and families to include the current status of the cause and diagnosis of the clinical, genetics and endocrine findings in PWS. Updated information regarding the early diagnosis and management of individuals with Prader-Willi syndrome is important for all physicians and will be helpful in anticipating and managing or modifying complications associated with this rare obesity-related disorder.

  16. Twin-twin transfusion syndrome: cerebral ischemia is not the only fetal MR imaging finding

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [University of Cincinnati Medical Center, Department of Radiology, Cincinnati Children' s Hospital Medical Center, Cincinnati, OH (United States); Cincinnati Children' s Hospital, Department of Radiology, Cincinnati, OH (United States); Calvo-Garcia, Maria A.; O' Hara, Sara M.; Racadio, Judy M. [University of Cincinnati Medical Center, Department of Radiology, Cincinnati Children' s Hospital Medical Center, Cincinnati, OH (United States); Crombleholme, Timothy M. [University of Cincinnati Medical Center, Department of Surgery, Cincinnati Children' s Hospital Medical Center, Cincinnati, OH (United States)

    2007-01-15

    Twin-twin transfusion syndrome (TTTS) is a complication of monochorionic/diamniotic twin pregnancies. An imbalance of blood flow occurs through placental anastomoses, causing potentially significant morbidity and mortality in both twins. Although the sonographic findings of TTTS are well documented, we believe that MR imaging is a valuable adjunct. We describe the fetal MR imaging findings associated with TTTS. From 2003 to 2005, 37 consecutive MR imaging studies were performed on multiple-gestation pregnancies. Of the 37, 25 were consistent with TTTS, correlated and confirmed by sonographic criteria. MR fetal abnormalities were documented. Cerebral ischemia, which could not be demonstrated by sonography, was delineated well by MR imaging. New findings noted on fetal MR imaging were enlargement of cerebral venous sinuses in both twins, dilatation of the renal collecting system in the recipient, lung lesions in the recipient and cerebral malformations in the donor. MR imaging is an important adjunct in TTTS imaging. Its benefit over sonography is its clear definition of cerebral pathology, which is important for intervention and counseling. The new findings, particularly in the urinary tract and cerebral venous sinuses, also help support the diagnosis of TTTS and might reveal additional consequences of the altered hemodynamics that occur in TTTS. (orig.)

  17. MR imaging findings suggestive of posterior reversible encephalopathy syndrome in adolescents with systemic lupus erythematosus

    International Nuclear Information System (INIS)

    Muscal, Eyal; De Guzman, Marietta M.; Myones, Barry L.; Traipe, Elfrides; Hunter, Jill V.; Brey, Robin L.

    2010-01-01

    Endothelial damage, hypertension and cytotoxic medications may serve as risk factors for the posterior reversible encephalopathy syndrome (PRES) in systemic lupus erythematosus. There have been few case reports of these findings in pediatric lupus patients. We describe clinical and neuroimaging findings in children and adolescents with lupus and a PRES diagnosis. We identified all clinically acquired brain MRIs of lupus patients at a tertiary care pediatric hospital (2002-2008). We reviewed clinical features, conventional MRI and diffusion-weighted imaging (DWI) findings of patients with gray- and white-matter changes suggestive of vasogenic edema and PRES. Six pediatric lupus patients presenting with seizures and altered mental status had MRI findings suggestive of PRES. In five children clinical and imaging changes were seen in conjunction with hypertension and active renal disease. MRI abnormalities were diffuse and involved frontal regions in five children. DWI changes reflected increased apparent diffusivity coefficient (unrestricted diffusion in all patients). Clinical and imaging changes significantly improved with antihypertensive and fluid management. MRI changes suggestive of vasogenic edema and PRES may be seen in children with active lupus and hypertension. The differential diagnosis of seizures and altered mental status should include PRES in children, as it does in adults. (orig.)

  18. Twin-twin transfusion syndrome: cerebral ischemia is not the only fetal MR imaging finding

    International Nuclear Information System (INIS)

    Kline-Fath, Beth M.; Calvo-Garcia, Maria A.; O'Hara, Sara M.; Racadio, Judy M.; Crombleholme, Timothy M.

    2007-01-01

    Twin-twin transfusion syndrome (TTTS) is a complication of monochorionic/diamniotic twin pregnancies. An imbalance of blood flow occurs through placental anastomoses, causing potentially significant morbidity and mortality in both twins. Although the sonographic findings of TTTS are well documented, we believe that MR imaging is a valuable adjunct. We describe the fetal MR imaging findings associated with TTTS. From 2003 to 2005, 37 consecutive MR imaging studies were performed on multiple-gestation pregnancies. Of the 37, 25 were consistent with TTTS, correlated and confirmed by sonographic criteria. MR fetal abnormalities were documented. Cerebral ischemia, which could not be demonstrated by sonography, was delineated well by MR imaging. New findings noted on fetal MR imaging were enlargement of cerebral venous sinuses in both twins, dilatation of the renal collecting system in the recipient, lung lesions in the recipient and cerebral malformations in the donor. MR imaging is an important adjunct in TTTS imaging. Its benefit over sonography is its clear definition of cerebral pathology, which is important for intervention and counseling. The new findings, particularly in the urinary tract and cerebral venous sinuses, also help support the diagnosis of TTTS and might reveal additional consequences of the altered hemodynamics that occur in TTTS. (orig.)

  19. MR imaging findings suggestive of posterior reversible encephalopathy syndrome in adolescents with systemic lupus erythematosus

    Energy Technology Data Exchange (ETDEWEB)

    Muscal, Eyal; De Guzman, Marietta M.; Myones, Barry L. [Texas Children' s Hospital, Baylor College of Medicine and Pediatric Rheumatology Center, Houston, TX (United States); Traipe, Elfrides; Hunter, Jill V. [Texas Children' s Hospital, Baylor College of Medicine and Diagnostic Imaging, Houston, TX (United States); Brey, Robin L. [University of Texas Health Science Center at San Antonio, Department of Neurology, San Antonio, TX (United States)

    2010-07-15

    Endothelial damage, hypertension and cytotoxic medications may serve as risk factors for the posterior reversible encephalopathy syndrome (PRES) in systemic lupus erythematosus. There have been few case reports of these findings in pediatric lupus patients. We describe clinical and neuroimaging findings in children and adolescents with lupus and a PRES diagnosis. We identified all clinically acquired brain MRIs of lupus patients at a tertiary care pediatric hospital (2002-2008). We reviewed clinical features, conventional MRI and diffusion-weighted imaging (DWI) findings of patients with gray- and white-matter changes suggestive of vasogenic edema and PRES. Six pediatric lupus patients presenting with seizures and altered mental status had MRI findings suggestive of PRES. In five children clinical and imaging changes were seen in conjunction with hypertension and active renal disease. MRI abnormalities were diffuse and involved frontal regions in five children. DWI changes reflected increased apparent diffusivity coefficient (unrestricted diffusion in all patients). Clinical and imaging changes significantly improved with antihypertensive and fluid management. MRI changes suggestive of vasogenic edema and PRES may be seen in children with active lupus and hypertension. The differential diagnosis of seizures and altered mental status should include PRES in children, as it does in adults. (orig.)

  20. Private Arbitration of Incidental Public Law Issues

    DEFF Research Database (Denmark)

    Werlauff, Erik

    2009-01-01

     The article discusses the incidental public law issues which can arise in an arbitration case, e.g. concerning power, heating, natural gas and other public facility legislation, national or Community legal restrictive trade practices law, and rules on state administration approval of the terms...... by arbitration, and where the award is nullifiable only if its findings are in violation of public policy, the ordre public. The article relies on UNCITRAL's Model Arbitration Law, the new Danish arbitration act (DAA), national European case law, and literature and case law of the European Court....

  1. [Pathogenesis and Laboratory Findings in Antiphospholipid Syndrome, Especially Associated with Lupus Anticoagulant].

    Science.gov (United States)

    Ieko, Masahiro; Naito, Sumiyoshi; Yoshida, Mika; Takahashi, Nobuhiko

    2015-10-01

    Antiphospholipid syndrome (APS), an acquired thrombotic condition, is a complex clinical state characterized by the presence of circulating antiphospholipid antibodies in patients with thrombosis or pregnancy morbidity. Revised APS classification criteria are used for diagnosis, which include at least one clinical criterion (thrombosis or pregnancy loss) and at least one of the laboratory criteria [anticardiolipin antibodies, anti-β2GPI antibodies, lupus anticoagulant (LA)]. LA is also an independent risk factor for developing thrombosis, though some LA-positive cases have been reported to have a bleeding symptom. Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) is a rare disorder characterized by a bleeding tendency due to low prothrombin activity in patients with LA, and has recently been reported not only in children but also in adults We have encountered LA cases with bleeding and low coagulation factor activities except for prothrombin. Based on our findings, we propose that LA-positive cases with a bleeding symptom and characterized by low coagulation factor activity including prothrombin be termed lupus anticoagulant-associated coagulopathy (LAAC). Furthermore, coagulation factor autoantibodies are often detected in LAAC patients; thus, correct measurement of LA is important to distinguish LAAC patients from those possessing an inhibitor to coagulation factors such as acquired hemophilia A as well as to select the optimal therapeutic strategy.

  2. Duplex ultrasonography in the hemorrhagic fever with renal syndrome; Correlation with laboratory findings

    International Nuclear Information System (INIS)

    Han, Chun Hee; Cho, K. S.; Auh, Y. h.; Park, C. S.; Park, S. K.; Kim, S. B.

    1994-01-01

    Assuming that the duplex Doppler sonography might be useful in predicting the disease evolution of hemorrhagic fever with renal syndrome, we compared the resistive index (RI) with the clinical and laboratory findings in 18 patients. We underwent 30 duplex Doppler examinations in 18 patients: one examination in nine, two examinations in six, and three examinations in three patients. Duplex Dopper waveforms were obtained from the main, segmental,interlobar, and arcuate arteries of both kidneys, and the RI was calculated for each study. In oliguric phase, the mean RI was high (average, 0.94), and the serum BUN(averate, 92.3mg/dl) and creatinine(average, 10.4mg/dl) levels were elevated. In diuretic phase the mean RI was normalized (average, 0.7), and the serum BUN(average, 31.1mg/dl)and serum creatinine (average, 2.9mg/dl) levels were low. There was statistically significant correlation between the mean RI and the serum levels of BUN and creatinine and 24 hour urine output (P<0.001). We conclude that the mean RI is a useful indicator in predicting the disease evolution in patients with hemorrhagic fever with renal syndrome

  3. Atypical manifestations of reversible posterior leukoencephalopathy syndrome: findings on diffusion imaging and ADC mapping

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, K.J.; You, W.J.; Jeong, S.L.; Lee, J.W.; Kim, B.S.; Lee, J.H.; Hahn, S.T. [Dept. of Radiology, The Catholic Univ. of Korea, St. Mary' s Hospital, Seoul (Korea); Yang, D.W.; Son, Y.M. [Dept. of Neurology, The Catholic Univ. of Korea, St. Mary' s Hospital, Seoul (Korea)

    2004-12-01

    Typically, reversible posterior leukoencephalopathy syndrome (RPLS) involves the parieto-occipital lobes. When regions of the brain other than the parieto-occipital lobes are predominantly involved, the syndrome can be called atypical RPLS. The purpose of this study is to find radiological and pathophysiological features of atypical RPLS by using diffusion-weighted imaging (D-WI). We retrospectively reviewed seven patients (two with eclampsia, one with cyclosporine neurotoxicity, and four with hypertensive encephalopathy) with atypical MR manifestations of RPLS. Changes in signal intensity on T2-weighted imaging (T2-WI) and D-WI, and ADC ratio, were analyzed. In patients with atypical manifestation of RPLS, high signal intensities on T2-WI were noted in the frontal lobe, basal ganglia, thalamus, brainstem, and subcortical white matter in regions other than the parieto-occipital lobes. These areas of increased signal intensities on T2-WI showed increased ADC values, representing vasogenic edema in all seven patients. This result should be very useful in differentiating atypical RPLS from other metabolic brain disorders that affect the same sites with cytotoxic edema. (orig.)

  4. Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life

    Energy Technology Data Exchange (ETDEWEB)

    Carvalho-Neto, Arnolfo de; Ono, Sergio Eiji; Cardoso, Georgina de Melo; Santos, Mara Lucia Schmitz Ferreira; Celidonio, Izabela [Hospital Pequeno Principe, Curitiba, PR (Brazil)], e-mail: ono.sergio@gmail.com

    2009-06-15

    The oculocerebrorenal syndrome of Lowe (OCRL), was first recognized as a distinct disease in 1952 by Drs. Lowe, Terrey and MacLachlan at Massachusetts General Hospital, in Boston, USA, describing three male children with organic aciduria, decreased renal ammonia production, hydrophtalmos and mental retardation. The X-linked recessive inheritance pattern was recognized first by LeFebvre. It is present in all races, with a predominance in those of Caucasian and Asian ancestries. Rarely females are affected. It is a very rare disease, with estimated prevalence in the general population of 1 in 500,000. In USA the Lowe Syndrome Association (LSA) documented 190 living patients in the year 2000 (0.67 x million inhabitants). It is caused by a mutation in the gene encoding oculocerebrorenal- Lowe protein (OCRL1), isolated in 1992, linked to the Xq24-q26 region of the X chromosome,4-6. Approximately 60% of OCRL patients demonstrate a loss of OCRL gene expression, and the definitive laboratory test, that can be used for prenatal diagnosis, is the biochemical assay for deficiency of phosphatidylinositol 4,5-biphosphate 5-phosphate in cultured fibroblasts. The classic triad of eye, central nervous system, and kidney involvement are required for the diagnosis of Lowe's syndrome. Cataract is present at birth in all patients and glaucoma is detected within the first year of life. Hypotonia compromises suction and causes serious respiratory problems in the first period of life. Motor development is retarded and mental retardation is moderate or severe in almost all cases. Obsessive-compulsive behavior is typical. Seizure is seen in approximately 50% of the patients over 18 years old. Renal disease is primarily characterized by renal Fanconi syndrome but many children are asymptomatic at birth. Renal involvement is initially related to bicarbonate, salt and water wasting, causing failure to thrive. Later, a significant number of patients develop chronic renal failure. The

  5. Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life

    International Nuclear Information System (INIS)

    Carvalho-Neto, Arnolfo de; Ono, Sergio Eiji; Cardoso, Georgina de Melo; Santos, Mara Lucia Schmitz Ferreira; Celidonio, Izabela

    2009-01-01

    The oculocerebrorenal syndrome of Lowe (OCRL), was first recognized as a distinct disease in 1952 by Drs. Lowe, Terrey and MacLachlan at Massachusetts General Hospital, in Boston, USA, describing three male children with organic aciduria, decreased renal ammonia production, hydrophtalmos and mental retardation. The X-linked recessive inheritance pattern was recognized first by LeFebvre. It is present in all races, with a predominance in those of Caucasian and Asian ancestries. Rarely females are affected. It is a very rare disease, with estimated prevalence in the general population of 1 in 500,000. In USA the Lowe Syndrome Association (LSA) documented 190 living patients in the year 2000 (0.67 x million inhabitants). It is caused by a mutation in the gene encoding oculocerebrorenal- Lowe protein (OCRL1), isolated in 1992, linked to the Xq24-q26 region of the X chromosome,4-6. Approximately 60% of OCRL patients demonstrate a loss of OCRL gene expression, and the definitive laboratory test, that can be used for prenatal diagnosis, is the biochemical assay for deficiency of phosphatidylinositol 4,5-biphosphate 5-phosphate in cultured fibroblasts. The classic triad of eye, central nervous system, and kidney involvement are required for the diagnosis of Lowe's syndrome. Cataract is present at birth in all patients and glaucoma is detected within the first year of life. Hypotonia compromises suction and causes serious respiratory problems in the first period of life. Motor development is retarded and mental retardation is moderate or severe in almost all cases. Obsessive-compulsive behavior is typical. Seizure is seen in approximately 50% of the patients over 18 years old. Renal disease is primarily characterized by renal Fanconi syndrome but many children are asymptomatic at birth. Renal involvement is initially related to bicarbonate, salt and water wasting, causing failure to thrive. Later, a significant number of patients develop chronic renal failure. The treatment

  6. Breast varices: imaging findings of an unusual presentation of collateral pathways in superior vena caval syndrome

    International Nuclear Information System (INIS)

    Oezdemir, Ayseguel; Ilgit, Erhan T.; Konus, Oeznur L.; Cetin, Meltem; Oezsunar, Yelda

    2000-01-01

    Imaging findings are presented of an unusual pathway of collateral circulation consisting of bilateral and diffuse dilated breast veins from a patient with long standing superior vena caval syndrome. The main importance of this case is the extent of the collateral development through the breast veins, serving as the major pathway of collateral circulation. Identification of this unusual collateral development, which resembles breast varices, was performed with contrast-enhanced chest CT scans, digital subtraction venography, color Doppler ultrasonography, and mammographic studies. Collateral development was secondary to a long segment idiopathic venous occlusion involving bilateral subclavian and brachiocephalic veins as well as vena cava superior. We conclude that dilated breast veins when detected on any imaging modality should raise the suspicion of central venous obstruction

  7. Churg-Strauss Syndrome with Cardiac Involvement: A Case Report with CT and MRI Findings

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Seong Joo; Cho, Young Jun; Kim, Keum; Hwang, Cheol Mok; Kim, Dae Ho [Dept. of Radiology, Konyang University College of Medicine, Daegu (Korea, Republic of); Choi, Eu Gene [Dept. of Internal Medicine, Konyang University College of Medicine, Daegu (Korea, Republic of)

    2012-02-15

    This is a case report of Churg-Strauss Syndrome (CSS) associated with cardiac involvement which is demonstrated in chest CT and cardiac MRI (CMR) without specific cardiac symptoms. A 32-year-old woman had a 3-year history of bronchial asthma, chronic sinusitis, and otitis media. The patient had various typical findings of CSS. The patient had no specific cardiac symptoms or signs such as chest pain, palpitations, syncope, or murmur, but she had diffuse low attenuation lesions in the inner wall of the left ventricle (LV) in contrast-enhanced CT. This corresponded to the area of subendocardial hyperenhancement in delayed contrast-enhanced CMR images. She was treated with steroids for 2 months. Follow-up delayed contrast-enhanced CMR of the LV showed a decrease in the size of the subendocardial enhancement area, and she had no symptoms. Therefore, the radiologist and clinician both should pay careful attention to observe possible cardiac involvement in case of CSS.

  8. Abnormal Auditory Brainstem Response (ABR Findings in a Near-Normal Hearing Child with Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Bahram Jalaei

    2017-01-01

    Full Text Available Introduction: Noonan syndrome (NS is a heterogeneous genetic disease that affects many parts of the body. It was named after Dr. Jacqueline Anne Noonan, a paediatric cardiologist.Case Report: We report audiological tests and auditory brainstem response (ABR findings in a 5-year old Malay boy with NS. Despite showing the marked signs of NS, the child could only produce a few meaningful words. Audiological tests found him to have bilateral mild conductive hearing loss at low frequencies. In ABR testing, despite having good waveform morphology, the results were atypical. Absolute latency of wave V was normal but interpeak latencies of wave’s I-V, I-II, II-III were prolonged. Interestingly, interpeak latency of waves III-V was abnormally shorter.Conclusion:Abnormal ABR results are possibly due to abnormal anatomical condition of brainstem and might contribute to speech delay.

  9. Imaging Findings of Central Nervous System Vasculitis Associated with Goodpasture's Syndrome: a Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jee Young; Ahn, Kook Jin; Jung, Jung Im; Jung, So Lyung; Kim, Bum Soo; Hahn, Seong Tae [College of Medicine, The Catholic University of Korea, Seoul (Korea, Republic of)

    2007-12-15

    We report a rare case of CNS vasculitis associated with Goodpasture's syndrome in a 34-year-old man, who presented with a seizure and sudden onset of right sided weakness. He also had recurrent hemoptysis of one month's duration. Goodpasture's syndrome is histologically diagnosed by intense linear deposits of IgG along the glomerular basement membrane in both renal and lung tissues. oodpasture's syndrome is a rare disease, characterized by rapidly progressive glomerulonephritis, diffuse pulmonary hemorrhage and circulating antiglomerular basement membrane antibody (anti-GBM antibody). Central nervous system (CNS) manifestations in Goodpasture's syndrome are extremely rare, with only a few cases having been reported in the literature (8 10). Therefore, we present our imaging findings of CNS vasculitis associated with Goodpasture's syndrome, together with a review of the relevant literature. In summary, CNS vasculitis associated with Goodpasture's syndrome is extremely rare. Awareness of the imaging findings, as well as the clinical significance of CNS vasculitis associated with Goodpasture's syndrome, can be helpful in making the correct diagnosis and subsequent management of this rare condition.

  10. Ocular manifestations of Apert and Crouzon syndromes: qualitative and quantitative findings

    DEFF Research Database (Denmark)

    Kreiborg, Sven; Cohen, M Michael

    2010-01-01

    There are significant differences in the ocular manifestations of Apert and Crouzon syndromes. Here, we present qualitative and quantitative data about the oculo-orbital region to demonstrate these differences. Although ocular protosis and hypertelorism characterize both disorders, the nature...... protrusion of the lateral orbital wall. The implications account for some of the differences encountered. Asymmetry is associated with Apert syndrome frequently. Exotropia is found in Crouzon syndrome, whereas the V pattern is more characteristic in Apert syndrome with divergent upgaze and esotropic downgaze....... Subluxation of the eyeglobe is found in some cases of Crouzon syndrome but is not found in Apert syndrome. Optic atrophy found in approximately 20% of Crouzon syndrome patients is not characteristic of Apert syndrome. Structural alterations of the extraocular muscles have been associated with some cases...

  11. Thrombophlebitis of the internal jugular vein (Lemierre syndrome) - Clinical and CT findings

    International Nuclear Information System (INIS)

    Kim, Bo Yeon; Yoon, Dae Young; Lim, Kyoung Ja; Seo, Young Lan; Yun, Eun Joo; Choi, Chul Soon; Bae, Sang Hoon; Kim, Hyeong Chul; Kim, Eun Soo; Baek, Sora

    2013-01-01

    Background: Thrombophlebitis of the internal jugular vein (IJV) secondary to neck infection (so-called Lemierre syndrome) is a rare disease. Purpose: To evaluate the clinical and CT findings in patients with thrombophlebitis of the IJV. Material and Methods: The clinical and contrast-enhanced neck CT findings were retrospective analyzed in 10 patients (eight men, two women; mean age, 62.9±8.3 years) with thrombophlebitis of the IJV. Results: Five patients (50%) had complications, including pneumonia (n = 3), neck abscess (n = 1), and thrombophlebitis of cerebral venous sinus (n = 1). All patients, except two who were lost to follow-up, had improved after antibiotics and anticoagulation therapy. Nine (90%) patients had underlying infectious processes in the neck. Contrast-enhanced neck CT of 12 IJVs (five right, three left, and two bilateral) affected by thrombophlebitis demonstrated > 5 cm in length (n = 8, 67%), ovoid shape (n = 7, 58%), complete occlusion of the lumen (n = 10, 83%), circumferential (n = 11, 92%), smooth (n = 8, 67%), and thick (=4 mm) (n = 8, 67%) rim enhancement, and adjacent soft tissue swelling (n = 11, 92%). Conclusion: Contrast-enhanced CT is useful in the diagnosis of thrombophlebitis of the IJV; characteristic CT findings of this unusual entity may be the main clue to the correct diagnosis

  12. The relation between serum vitamin D levels and clinical findings of fibromyalgia syndrome

    Directory of Open Access Journals (Sweden)

    Nurcan Kılıç Baygutalp

    2014-09-01

    Full Text Available Objective:This study was performed to identify serum 25-OH vitamin D levels and to investigate the relationship between 25-OH vitamin D and clinical findings on patients with fibromyalgia syndrome (FMS. Methods:Nineteen premenopausal women with FMS who were diagnosed according to ACR 1990 fibromyalgia diagnostic criteria and 24 premenopausal healthy women as control group were included in the study. Serum 25-OH vitamin D levels were determined in both patient and control groups. Widespread body pain, headache, fatigue, morning stiffness, sleep disorder, the number of tender points, Fibromyalgia Impact Questionnaire (FIQ scores and Beck depression scores were evaluated as clinical findings in patients with FMS. Results:Serum 25-OH vitamin D levels were significantly lower in patients with FMS than those in control group (p=0.01. There were significantly negative correlations between 25-OH vitamin D levels and widespread body pain (r=-0.731, Beck depression scores (r=-0.777, headache (r=-0.629, and sleep disorder (r=-0.767 in the FMS group (p<0.01. Conclusion: It was concluded that 25-OH vitamin D deficiency may be related to the clinical findings such as widespread body pain, depression, headache and sleep disorder in patients with FMS.

  13. Thrombophlebitis of the internal jugular vein (Lemierre syndrome) - Clinical and CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Bo Yeon; Yoon, Dae Young; Lim, Kyoung Ja; Seo, Young Lan; Yun, Eun Joo; Choi, Chul Soon; Bae, Sang Hoon [Dept. of Radiology, Kangdong Seong-Sim Hospital, Hallym Univ. Coll. of Medicine, Seoul (Korea, Republic of)], e-mail: evee0914@chollian.net; Kim, Hyeong Chul [Dept. of Radiology, Chuncheon Sacred Heart Hospital, Hallym Univ. Coll. of Medicine, Kangwon-do (Korea, Republic of); Kim, Eun Soo [Dept. of Radiology, Hallym Univ. Sacred Heart Hospital, Hallym Univ. Coll. of Medicine, Gyeonggi-do (Korea, Republic of); Baek, Sora [Dept. of Nuclear Medicine, Kangdong Seong-Sim Hospital, Hallym Univ. Coll. of Medicine, Seoul (Korea, Republic of)

    2013-07-15

    Background: Thrombophlebitis of the internal jugular vein (IJV) secondary to neck infection (so-called Lemierre syndrome) is a rare disease. Purpose: To evaluate the clinical and CT findings in patients with thrombophlebitis of the IJV. Material and Methods: The clinical and contrast-enhanced neck CT findings were retrospective analyzed in 10 patients (eight men, two women; mean age, 62.9{+-}8.3 years) with thrombophlebitis of the IJV. Results: Five patients (50%) had complications, including pneumonia (n = 3), neck abscess (n = 1), and thrombophlebitis of cerebral venous sinus (n = 1). All patients, except two who were lost to follow-up, had improved after antibiotics and anticoagulation therapy. Nine (90%) patients had underlying infectious processes in the neck. Contrast-enhanced neck CT of 12 IJVs (five right, three left, and two bilateral) affected by thrombophlebitis demonstrated > 5 cm in length (n = 8, 67%), ovoid shape (n = 7, 58%), complete occlusion of the lumen (n = 10, 83%), circumferential (n = 11, 92%), smooth (n = 8, 67%), and thick (=4 mm) (n = 8, 67%) rim enhancement, and adjacent soft tissue swelling (n = 11, 92%). Conclusion: Contrast-enhanced CT is useful in the diagnosis of thrombophlebitis of the IJV; characteristic CT findings of this unusual entity may be the main clue to the correct diagnosis.

  14. Ultrasound findings in EHEC-associated hemolytic-uremic syndrome and their clinical relevance.

    Science.gov (United States)

    Reising, Ansgar; Hafer, Carsten; Hiss, Marcus; Kielstein, Jan T; Menne, Jan; Gueler, Faikah; Beneke, Jan; Linnenweber-Held, Silvia; Haller, Hermann; Einecke, Gunilla

    2016-04-01

    Hemolytic-uremic syndrome (HUS) and acute kidney injury (AKI) after infection with Shiga toxin-producing E. coli (EHEC) are clinically important complications. We present a retrospective analysis of abdominal ultrasound findings in patients with HUS caused by EHEC O104:H4 (n = 41). We assessed intrarenal resistance indices and quantitated kidney parenchymal density by the kidney/liver intensity ratio using computer-based image analysis. Findings in EHEC-HUS were compared to those in AKI due to other reasons (n = 60) and 19 healthy volunteers. Kidneys in EHEC-HUS patients showed severe morphologic changes with striking parenchymal echogenicity. Renal resistance index was increased in HUS (0.80 ± 0.08) compared to patients with AKI due to glomerulopathy (0.69 ± 0.08, p dialysis treatment had higher parenchymal density (1.58 ± 0.08) compared to those without dialysis (1.14 ± 0.05, p = 0.0004). Extrarenal findings in EHEC-HUS included hepatomegaly (45%), splenomegaly (39%), ascites (84%) and pleural effusions (84%). Patients with EHEC-HUS had a characteristic constellation of morphologic abnormalities on ultrasound examination, indicating that the effects of HUS are not limited to the kidney but include multiple organs, possibly mediated through systemic capillary leakage. Assessment of parenchymal echogenicity contributes to the differential diagnosis of AKI. Parameters reflecting renal perfusion correlated with severity of disease and thus may have prognostic value in future patient evaluation.

  15. MR of the pituitary in patients with Prader-Willi syndrome: size determination and imaging findings

    International Nuclear Information System (INIS)

    Miller, L.; Angulo, M.; Price, D.; Taneja, S.

    1996-01-01

    Prader-Willi syndrome (PWS) is an unusual genetic disorder characterized by short stature, obesity, hypogonadism, hypotonia, cognitive impairment, and dysmorphic facies. There is an interstitial deletion of the proximal long arm of chromosome 15 in about 70% of patients. Some of these clinical features suggest a central hypothalamic/pituitary dysfunction, and recent investigations have demonstrated a marked impairment in spontaneous growth hormone (GH) secretion. We studied 15 GH-deficient PWS patients by magnetic resonance imaging (MRI) to determine whether there was a diminution in the gross morphological size of the anterior pituitary gland, the site of GH synthesis. We also set out to catalog the pertinent imaging findings in this patient population. Our results indicate that this is the first report documenting pituitary size by MRI in PWS patients. No statistically significant difference was found in the height of the anterior pituitary gland in PWS patients compared with either normal children or children with isolated GH deficiency. An interesting imaging finding is that three of 15 patients (20%) demonstrated complete absence of the posterior pituitary bright spot (PPBS), and a fourth patient demonstrated a small PPBS. These observations reflect an objective physiologic disturbance in the hypothalamus. The clinical and radiologic implications of these findings are discussed. (orig.)

  16. Comparison of colonic transit time findings between spastic pelvic floor syndrome and normal on defecogram

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Seung Kwon; Choi, Sang Hee; Chung, Il Gyu; Lim, Hyo Keun; Choo, Sung Wook; Rhee, Poong Lyul [Samsung Medical Center, Seoul (Korea, Republic of)

    1998-05-01

    The purpose of this study is to evaluate colonic transit time (CTT) in patients with spastic pelvic floor syndrome (SPFS) diagnosed by defecography and compare findings with those of patients with normal defecography. Over a recent 15-month period, 140 patients underwent both defecography and CTT test because of chronic idiopathic constipation. Of these, 54 with SPFS diagnosed by defecography and 49 controls with normal defecography were included in our study. CTT test involved the radiopaque marker method. Subjects ingested 24 markers at 9:00 Am on three consecutive days and a plain film of the abdomen was obtained on day 4. We calculated total and segmental CTT test findings in the two groups. Delayed total CTT was found in 35% of patients (19/54) with SPFS. Segmental CTT in the right, left and rectosigmoid colon was delayed in 31 % of patients (15/49) with SPFS. Segmental CTT in the right, left and rectosigmoid colon was delayed in 19 % (10/54), 44 % (24/54), and 31 % of cases (17/54), respectively. Total CTT was delayed in 31 % of patients (15/49) with normal defecography. In this group, segmental CTT in the left colon was delayed in 39 % of cases. There was no significant difference in CTT findings between the SPFS and normal groups on defecogram. (author). 18 refs., 2 tabs., 5 figs.

  17. Pulmonary involvement in Churg-Strauss syndrome: an analysis of CT, clinical, and pathologic findings

    International Nuclear Information System (INIS)

    Kim, Yoon Kyung; Lee, Kyung Soo; Chong, Semin; Chung, Myung Jin; Yi, Chin A.; Kim, Ha Young; Chung, Man Pyo; Han, Joungho

    2007-01-01

    We tried to assess retrospectively thin-section CT findings of Churg-Strauss syndrome (CSS) in 25 patients and to compare these findings with clinical and histopathologic findings. Of 25 patients, 19 (76%) had parenchymal abnormalities at CT; small nodules (n = 12; 63%), ground-glass opacity (n = 10; 53%), bronchial wall thickening (n = 10; 53%), and consolidation (n = 8; 42%). Parenchymal abnormalities (n = 19) were categorizable as an airway pattern in 11 and an airspace pattern in eight. Patients with an airway pattern (n = 5) had obstructive (n = 3) or combined (n = 2) PFT results, whereas those with an airspace pattern (n = 4) had restrictive (n = 3) or obstructive (n = 1) results. Parenchymal opacities at CT corresponded histologically to areas of eosinophilic pneumonia, necrotizing granulomas, and granulomatous vasculitis; small nodules to eosinophilic bronchiolitis and peribronchiolar vasculitis; and bronchial wall thickening to airway wall eosinophil and lymphocyte infiltration. Patients with airspace pattern responded more readily to treatment than those with airway pattern. CT shows lung parenchymal abnormalities in about three-quarters of CSS patients and these abnormalities can be categorized as airspace or airway patterns. This classification helps predict PFT data, underlying histopathology, and treatment response. (orig.)

  18. Pulmonary involvement in Churg-Strauss syndrome: an analysis of CT, clinical, and pathologic findings

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yoon Kyung; Lee, Kyung Soo; Chong, Semin; Chung, Myung Jin; Yi, Chin A.; Kim, Ha Young [Samsung Medical Center, Sungkyunkwan University School of Medicine, Department of Radiology and Center for Imaging Science, Seoul (Korea); Chung, Man Pyo [Samsung Medical Center, Sungkyunkwan University School of Medicine, Division of Pulmonary and Critical Care Medicine, Department of Medicine, Seoul (Korea); Han, Joungho [Samsung Medical Center, Sungkyunkwan University School of Medicine, Department of Pathology, Seoul (Korea)

    2007-12-15

    We tried to assess retrospectively thin-section CT findings of Churg-Strauss syndrome (CSS) in 25 patients and to compare these findings with clinical and histopathologic findings. Of 25 patients, 19 (76%) had parenchymal abnormalities at CT; small nodules (n = 12; 63%), ground-glass opacity (n = 10; 53%), bronchial wall thickening (n = 10; 53%), and consolidation (n = 8; 42%). Parenchymal abnormalities (n = 19) were categorizable as an airway pattern in 11 and an airspace pattern in eight. Patients with an airway pattern (n = 5) had obstructive (n = 3) or combined (n = 2) PFT results, whereas those with an airspace pattern (n = 4) had restrictive (n = 3) or obstructive (n = 1) results. Parenchymal opacities at CT corresponded histologically to areas of eosinophilic pneumonia, necrotizing granulomas, and granulomatous vasculitis; small nodules to eosinophilic bronchiolitis and peribronchiolar vasculitis; and bronchial wall thickening to airway wall eosinophil and lymphocyte infiltration. Patients with airspace pattern responded more readily to treatment than those with airway pattern. CT shows lung parenchymal abnormalities in about three-quarters of CSS patients and these abnormalities can be categorized as airspace or airway patterns. This classification helps predict PFT data, underlying histopathology, and treatment response. (orig.)

  19. Comparison of colonic transit time findings between spastic pelvic floor syndrome and normal on defecogram

    International Nuclear Information System (INIS)

    Kim, Seung Kwon; Choi, Sang Hee; Chung, Il Gyu; Lim, Hyo Keun; Choo, Sung Wook; Rhee, Poong Lyul

    1998-01-01

    The purpose of this study is to evaluate colonic transit time (CTT) in patients with spastic pelvic floor syndrome (SPFS) diagnosed by defecography and compare findings with those of patients with normal defecography. Over a recent 15-month period, 140 patients underwent both defecography and CTT test because of chronic idiopathic constipation. Of these, 54 with SPFS diagnosed by defecography and 49 controls with normal defecography were included in our study. CTT test involved the radiopaque marker method. Subjects ingested 24 markers at 9:00 Am on three consecutive days and a plain film of the abdomen was obtained on day 4. We calculated total and segmental CTT test findings in the two groups. Delayed total CTT was found in 35% of patients (19/54) with SPFS. Segmental CTT in the right, left and rectosigmoid colon was delayed in 31 % of patients (15/49) with SPFS. Segmental CTT in the right, left and rectosigmoid colon was delayed in 19 % (10/54), 44 % (24/54), and 31 % of cases (17/54), respectively. Total CTT was delayed in 31 % of patients (15/49) with normal defecography. In this group, segmental CTT in the left colon was delayed in 39 % of cases. There was no significant difference in CTT findings between the SPFS and normal groups on defecogram. (author). 18 refs., 2 tabs., 5 figs

  20. MRI findings of the brainstem of the neuro-Behcet syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Fujiki, Naoto; Tashiro, Kunio; Yamada, Takayoshi; Ito, Kazunori; Honma, Sanae; Doi, Shizuki; Moriwaka, Fumio

    1987-10-01

    We reported three cases of neuro-Behcet's syndrome which showed brainstem lesions on MRI compatible with the clinical symptoms. In Case 1, MRI showed a large, abnormal signal-intensity area in the pons and small, abnormal signal-intensity areas at the right cerebral peduncle, the bilateral basal ganglia, and the left thalamus. These lesions disappeared on MRI, in accordance with the remission of clinical symptoms. On the other hand, CT showed no positive findings. In Case 2, an abnormal signal-intensity area was disclosed at the left cerebral peduncle on MRI. This lesion was also identified on the CT scan. In Case 3, an abnormal signal-intensity area was present in the pons on MRI. In this case, CT showed no positive findings. In Cases 2 and 3, these lesions seemed to represent inflammatory or necrotic areas attributable to vasculitis;however, the extensive brainstem lesion seen on the MRI of Case 1 was a quite unique finding, for which no exact pathophysiological explanation is possible at the present time.

  1. Lower motor neuron findings after upper motor neuron injury: Insights from postoperative supplementary motor area syndrome

    Directory of Open Access Journals (Sweden)

    Jeffrey E Florman

    2013-03-01

    Full Text Available Hypertonia and hypereflexia are classically described responses to upper motor neuron injury. However, acute hypotonia and areflexia with motor deficit are hallmark findings after many central nervous system insults such as acute stroke and spinal shock. Historic theories to explain these contradictory findings have implicated a number of potential mechanisms mostly relying on the loss of descending corticospinal input as the underlying etiology. Unfortunately, these simple descriptions consistently fail to adequately explain the pathophysiology and connectivity leading to acute hyporeflexia and delayed hypereflexia that result from such insult. This article highlights the common observation of acute hyporeflexia after central nervous system insults and explores the underlying anatomy and physiology. Further, evidence for the underlying connectivity is presented and implicates the dominant role of supraspinal inhibitory influence originating in the supplementary motor area descending through the corticospinal tracts. Unlike traditional explanations, this theory more adequately explains the findings of postoperative supplementary motor area syndrome in which hyporeflexive motor deficit is observed acutely in the face of intact primary motor cortex connections to the spinal cord. Further, the proposed connectivity can be generalized to help explain other insults including stroke, atonic seizures, and spinal shock.

  2. MRI Findings of Syndrome of Acute Bilateral Symmetrical Basal Ganglia Lesions in Diabetic Uremia: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Xin Cao

    2016-01-01

    Full Text Available The syndrome of acute bilateral basal ganglia lesions is an uncommon clinical occurrence exhibiting acute onset of movement abnormalities, which can be seen almost exclusively among patients with chronic renal failure, especially in the setting of concurrent diabetes mellitus. Symmetrical lesions located in basal ganglia demonstrated in MRI are typical manifestation of this syndrome. Our study includes routine MRI examination, MRS, 3D-ASL, and SWI findings, which have been rarely reported and will contribute to diagnosing more cases about this syndrome.

  3. Clinical Characteristics and Prognosis of Incidentally Detected Lung Cancers

    Directory of Open Access Journals (Sweden)

    S. Quadrelli

    2015-01-01

    Full Text Available Objective. To evaluate clinical characteristics and outcomes in incidentally detected lung cancer and in symptomatic lung cancer. Material and Methods. We designed a retrospective study including all patients undergoing pulmonary resection with a curative intention for NSCLC. They were classified into two groups according to the presence or absence of cancer-related symptoms at diagnosis in asymptomatic (ASX—incidental diagnosis—or symptomatic. Results. Of the 593 patients, 320 (53.9% were ASX. In 71.8% of these, diagnosis was made by chest X-ray. Patients in the ASX group were older (P=0.007, had a higher prevalence of previous malignancy (P=0.002, presented as a solitary nodule more frequently (P<0.001, and were more likely to have earlier-stage disease and smaller cancers (P=0.0001. A higher prevalence of incidental detection was observed in the last ten years (P=0.008. Overall 5-year survival was higher for ASX (P=0.001. Median survival times in pathological stages IIIB-IV were not significantly different. Conclusion. Incidental finding of NSCLC is not uncommon even among nonsmokers. It occurred frequently in smokers and in those with history of previous malignancy. Mortality of incidental diagnosis group was lower, but the better survival was related to the greater number of patients with earlier-stage disease.

  4. 25 CFR 700.199 - Incidental expenses.

    Science.gov (United States)

    2010-04-01

    ... 25 Indians 2 2010-04-01 2010-04-01 false Incidental expenses. 700.199 Section 700.199 Indians THE... Expenses § 700.199 Incidental expenses. (a) Eligible costs. Subject to the limitations in paragraphs (b) and (c) of this section, the incidental expenses to be paid are those actually incurred by the...

  5. Liver and spleen MRI findings in virus-associated hemophagocytic syndrome in a patient with acute lymphocytic leukemia

    International Nuclear Information System (INIS)

    Zilkha, A.; Madan, V.; Leonidas, J.C.; Valderrama, E.

    1998-01-01

    Virus-associated hemophagocytic syndrome is characterized by the phagocytosis of erthythrocytes and other blood elements in multiple organ systems, especially the liver and spleen. Magnetic resonance imaging (MRI) can suggest this diagnosis in the proper clinical setting by demonstrating multiple, rounded signal voids in the spleen corresponding to hemosiderin deposition. We report a patient with virus-associated hemophagocytic syndrome during the course of acute lymphocytic leukemia and MRI findings that suggested the preoperative diagnosis. (orig.)

  6. Liver and spleen MRI findings in virus-associated hemophagocytic syndrome in a patient with acute lymphocytic leukemia

    Energy Technology Data Exchange (ETDEWEB)

    Zilkha, A.; Madan, V.; Leonidas, J.C. [Division of Pediatric Radiology, Island Jewish Medical Center, New Hyde Park, NY (United States); Valderrama, E. [Department of Pathology, Long Island Jewish Medical Center, New Hyde Park, NY (United States)

    1998-12-01

    Virus-associated hemophagocytic syndrome is characterized by the phagocytosis of erthythrocytes and other blood elements in multiple organ systems, especially the liver and spleen. Magnetic resonance imaging (MRI) can suggest this diagnosis in the proper clinical setting by demonstrating multiple, rounded signal voids in the spleen corresponding to hemosiderin deposition. We report a patient with virus-associated hemophagocytic syndrome during the course of acute lymphocytic leukemia and MRI findings that suggested the preoperative diagnosis. (orig.) With 1 fig., 4 refs.

  7. Congenital high airway obstruction syndrome: MR/US findings, effect on management, and outcome

    Energy Technology Data Exchange (ETDEWEB)

    Mong, Andrew; Johnson, Ann M.; Kramer, Sandra S.; Jaramillo, Diego [Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Coleman, Beverly G. [Hospital of the University of Pennsylvania, Department of Radiology, Philadelphia, PA (United States); Hedrick, Holly L.; Flake, Alan; Johnson, Mark; Wilson, R.D.; Adzick, N.S. [Children' s Hospital of Philadelphia, The Center for Fetal Diagnosis and Treatment, Philadelphia, PA (United States); Kreiger, Portia [Children' s Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Philadelphia, PA (United States)

    2008-11-15

    Congenital high airway obstruction syndrome (CHAOS) is a rare disorder defined as any fetal abnormality that obstructs the larynx or trachea. Prompt airway intervention at delivery after accurate prenatal diagnosis may allow survival of this otherwise fatal condition. To identify prenatal MRI findings in CHAOS, to compare these findings with those of fetal US, to determine if imaging alters diagnosis and management decisions, and to correlate prenatal with postnatal imaging findings. Records and MRI scans of ten fetuses with CHAOS were reviewed, and the findings correlated with outside and same-day fetal US and postnatal imaging findings. Fetal lung volumes were measured on MRI scans. Large lung volumes were found in 90% of the fetuses. Increased lung signal intensity, inverted diaphragm, and a dilated, fluid-filled lower airway were identified in all. The obstruction level was identified in 90%. MRI changed screening US diagnosis in 70%, but was concordant with the tertiary care US imaging in 90%. Seven fetuses were terminated or died in utero, and three fetuses survived after ex utero intrapartum tracheostomy placement. Autopsy or bronchoscopy performed in 60% confirmed CHAOS. Postnatal chest radiographs and CT showed hyperinflation, while US and fluoroscopy showed diminished diaphragmatic motion. MRI demonstrates large lung volumes, increased lung signal intensity, inverted diaphragm, and dilated fluid-filled lower airway, and usually identifies the obstruction level. The degree of correlation between MRI and tertiary prenatal US is high, but CHAOS is frequently misdiagnosed on screening US. Correct diagnosis may enable planned airway management. Voluminous lungs and diaphragmatic abnormalities persist on postnatal imaging. (orig.)

  8. Congenital high airway obstruction syndrome: MR/US findings, effect on management, and outcome

    International Nuclear Information System (INIS)

    Mong, Andrew; Johnson, Ann M.; Kramer, Sandra S.; Jaramillo, Diego; Coleman, Beverly G.; Hedrick, Holly L.; Flake, Alan; Johnson, Mark; Wilson, R.D.; Adzick, N.S.; Kreiger, Portia

    2008-01-01

    Congenital high airway obstruction syndrome (CHAOS) is a rare disorder defined as any fetal abnormality that obstructs the larynx or trachea. Prompt airway intervention at delivery after accurate prenatal diagnosis may allow survival of this otherwise fatal condition. To identify prenatal MRI findings in CHAOS, to compare these findings with those of fetal US, to determine if imaging alters diagnosis and management decisions, and to correlate prenatal with postnatal imaging findings. Records and MRI scans of ten fetuses with CHAOS were reviewed, and the findings correlated with outside and same-day fetal US and postnatal imaging findings. Fetal lung volumes were measured on MRI scans. Large lung volumes were found in 90% of the fetuses. Increased lung signal intensity, inverted diaphragm, and a dilated, fluid-filled lower airway were identified in all. The obstruction level was identified in 90%. MRI changed screening US diagnosis in 70%, but was concordant with the tertiary care US imaging in 90%. Seven fetuses were terminated or died in utero, and three fetuses survived after ex utero intrapartum tracheostomy placement. Autopsy or bronchoscopy performed in 60% confirmed CHAOS. Postnatal chest radiographs and CT showed hyperinflation, while US and fluoroscopy showed diminished diaphragmatic motion. MRI demonstrates large lung volumes, increased lung signal intensity, inverted diaphragm, and dilated fluid-filled lower airway, and usually identifies the obstruction level. The degree of correlation between MRI and tertiary prenatal US is high, but CHAOS is frequently misdiagnosed on screening US. Correct diagnosis may enable planned airway management. Voluminous lungs and diaphragmatic abnormalities persist on postnatal imaging. (orig.)

  9. Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment.

    Science.gov (United States)

    Roshan Lal, Tamanna R; Kliewer, Mark A; Lopes, Thelma; Rebsamen, Susan L; O'Connor, Julia; Grados, Marco A; Kimball, Amy; Clemens, Julia; Kline, Antonie D

    2016-06-01

    Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to anatomic abnormalities on neuro-imaging studies has not, however, been established. Anatomic abnormalities in the brain and central nervous system specific to CdLS have been observed, including changes in the white matter, brainstem, and cerebellum. We hypothesize that location and severity of brain abnormalities correlate with clinical phenotype in CdLS, as seen in other developmental disorders. In this study, we retrospectively evaluated brain MRI studies of 15 individuals with CdLS and compared these findings to behavior at the time of the scan. Behavior was assessed using the Aberrant Behavior Checklist (ABC), a validated behavioral assessment tool with several clinical features. Ten of fifteen (67%) of CdLS patients had abnormal findings on brain MRI, including cerebral atrophy, white matter changes, cerebellar hypoplasia, and enlarged ventricles. Other findings included pituitary tumors or cysts, Chiari I malformation and gliosis. Abnormal behavioral scores in more than one behavioral area were seen in all but one patient. All 5 of the 15 (33%) patients with normal structural MRI studies had abnormal ABC scores. All normal ABC scores were noted in only one patient and this was correlated with moderately abnormal MRI changes. Although our cohort is small, our results suggest that abnormal behaviors can exist in individuals with CdLS in the setting of relatively normal structural brain findings. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. Correlation of diagnostic imaging and autopsy findings of eight patients with acquired immune deficiency syndrome

    International Nuclear Information System (INIS)

    Li Hongjun; Zhang Yuzhong; Cheng Jingliang

    2009-01-01

    Objective: To investigate the imaging findings with pathologic correlation in patients with acquired immune deficiency syndrome (AIDS). Methods: Imaging findings, autopsy and pathological data were retrospectively analyzed in eight patients with AIDS. Routine CT scanning of different body parts was performed during their hospitalization. CT scanning was performed from the skull to the pelvis immediately following their death. After routine formalin fixing, 7 cadavers were cross sectioned for autopsy in freezing state and 1 for gross autopsy. Tissues were obtained from each sections and organs for pathological examinations. Results: The autopsy data showed parasitic infections (5 cases), bacterial infections (3 cases), fungal infections (2 cases), virus infections (2 cases), lymphoma (1 case) and cerebrovascular diseases (1 case)in eight patients with AIDS. The CT scanning demonstrated symmetrical ground glass liked shadows with pulmonary hilus as the center in 5 cases of pulmonary PCP infection; pulmonary patchy shadows, scattering distribution of nodular shadows, extensive military nodular shadows with even distribution and tuberculous pleurisy; cloudy shadows for 2 cases of fungi infection with multiple foci of chronic inflammation; pulmonary net-like parenchymal changes for 2 cases of pulmonary CMV infection; thickened intestinal wall and narrowed intestinal lumen for 1 case of intestinal tumor; low density shadows of brain tissue for 1 case of CMV encephalitis and MRI findings of high T 1 and high T 2 signals as well as MRA findings of broken vascular channels in liquefied areas of brain tissues; patchy low density areas inside a cyst of brain for one case of brain toxoplasmosis infection; multiple small patchy low density areas in cerebral basal ganglia for one case of brain cryptococcus infection. Conclusions: In AIDS patients, infection and tumor may occur in various organs resulting in complex symptoms, which makes it more complicated and difficult to make

  11. Beckwith-Wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Baldisserotto, Matteo; Peletti, Adriana Barcellos; Araujo, Manoel Angelo de; Pertence, Ana Paula Cardoso; Dora, Marcelo Dourado; Maciel, Elines Oliva; Gaiger, Ana Maria [Hospital da Crianca Conceicao, Departamento de Radiologia, Porto Alegre, RS (Brazil)

    2005-11-01

    Beckwith-Wiedemann syndrome is characterized by a group of clinical abnormalities, the most frequent of which are omphalocele, macroglossia, gigantism, neonatal hypoglycemia and umbilical hernia. The association of this syndrome with malignant tumors is well documented. We report a child with this syndrome associated with bilateral adrenal pheochromocytoma. (orig.)

  12. MRI findings in 77 children with non-syndromic autistic disorder.

    Directory of Open Access Journals (Sweden)

    Nathalie Boddaert

    Full Text Available BACKGROUND: The clinical relevance of MR scanning in children with autism is still an open question and must be considered in light of the evolution of this technology. MRI was judged to be of insufficient value to be included in the standard clinical evaluation of autism according to the guidelines of the American Academy of Neurology and Child Neurology Society in 2000. However, this statement was based on results obtained from small samples of patients and, more importantly, included mostly insufficient MRI sequences. Our main objective was to evaluate the prevalence of brain abnormalities in a large group of children with a non-syndromic autistic disorder (AD using T1, T2 and FLAIR MRI sequences. METHODOLOGY: MRI inspection of 77 children and adolescents with non-syndromic AD (mean age 7.4+/-3.6 was performed. All met the DSM-IV and ADI -R criteria for autism. Based on recommended clinical and biological screenings, we excluded patients with infectious, metabolic or genetic diseases, seizures or any other neurological symptoms. Identical MRI inspections of 77 children (mean age 7.0+/-4.2 without AD, developmental or neurological disorders were also performed. All MRIs were acquired with a 1.5-T Signa GE (3-D T1-FSPGR, T2, FLAIR coronal and axial sequences. Two neuroradiologists independently inspected cortical and sub-cortical regions. MRIs were reported to be normal, abnormal or uninterpretable. PRINCIPAL FINDINGS: MRIs were judged as uninterpretable in 10% (8/77 of the cases. In 48% of the children (33/69 patients, abnormalities were reported. Three predominant abnormalities were observed, including white matter signal abnormalities (19/69, major dilated Virchow-Robin spaces (12/69 and temporal lobe abnormalities (20/69. In all, 52% of the MRIs were interpreted as normal (36/69 patients. CONCLUSIONS: An unexpectedly high rate of MRI abnormalities was found in the first large series of clinical MRI investigations in non-syndromic autism

  13. Surgical evaluation of magnetic resonance imaging findings in piriformis muscle syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pecina, Hrvoje Ivan; Boric, Igor [Clinical Hospital ' ' Sestre Milosrdnice' ' , Department of Radiology, Zagreb (Croatia); Smoljanovic, Tomislav; Pecina, Marko [University of Zagreb, Department of Orthopedic Surgery, School of Medicine, Zagreb (Croatia); Duvancic, Davor [Outpatients Clinic and Clinic for Diagnostic Procedures, Zagreb (Croatia)

    2008-11-15

    The objective of this study was to evaluate the accuracy of magnetic resonance imaging (MRI) in the diagnosis of the piriformis muscle syndrome (PMS). In ten patients, seven female and three male, with a long history of clinical symptoms of the PMS, an MRI was performed as the last preoperative diagnostic tool. All patients were imaged using 2T MR system (Elscint, Haifa, Israel). Axial and coronal spin-echo, fast spin-echo (FSE), and fat-suppressed FSE-weighted images were made through the pelvic region with 3-mm section thickness and a 0.5-mm gap to show the whole piriformis muscle and the course of sciatic nerve on its way out of the pelvis. A routine examination also included axial fast spin-echo T2, three-dimensional gradient echo. In seven cases, an MRI abnormality for the PMS was found. In two women, the MRI demonstrated a bigastric appearance of the piriformis muscle with a tendinous portion between the muscle heads and the course of the common peroneal nerve through the muscle between the tendinous portions of the muscle. In one female patient, the common peroneal nerve passed through the hypertrophied piriformis muscle. In four patients, the MRI showed a hypertrophied aspect of the piriformis muscle and an anteriorly displaced sciatic nerve. All MRI findings were confirmed surgically. In three patients, no apparent abnormalities could be observed, but after a surgical treatment, i.e., a tenotomy of the piriformis muscle and neurolysis of the sciatic nerve, all symptoms disappeared. In piriformis muscle syndrome, MRI may demonstrate signal abnormalities of the sciatic nerve as well as its relationship with the normal and abnormal piriformis muscle. (orig.)

  14. Chronic exertional compartment syndrome of the forearm in motocross racers: findings on MRI

    International Nuclear Information System (INIS)

    Gielen, Jan Louis; Peersman, Benjamin; Dyck, Pieter van; Vanhoenacker, Filip; Peersman, Geert; Roelant, Ella; Roeykens, Johan

    2009-01-01

    The purpose of this prospective study was to demonstrate the findings of MRI in motocross racers with chronic exertional compartment syndrome (CECS) of the forearm. Racers with proven CECS and without CECS and male individuals not involved in strenuous activities with the forearm were included. Signal intensity (SI) and signal-to-noise ratio (SNR) obtained before and after exercise were compared (D-SNR). Magnetic resonance imaging after exercise showed an increase in SI and SNR in the muscles on T2-WI. The SI increase was obvious in the flexor digitorum superficialis (FDS) and profundus (FDP) in all CECS patients. In addition, a minor SI and SNR increase in the extensor carpi radialis longus (ECRL) was noted. In the non-symptomatic group of motocross racers, there was only a minor increase in SI and the SNR, which was similar in the FDP and ECRL muscles. In the untrained individuals a remarkable increase in the SI and SNR of the FDS/FDP-ECRL was noted. This increased SI and SNR was not present in the majority of non-symptomatic racers. Post-exertional MRI produces significant findings in CECS of the forearm. The motocross racers without post-exertional oedema in the FDP/FDS had no CECS. (orig.)

  15. Chronic exertional compartment syndrome of the forearm in motocross racers: findings on MRI

    Energy Technology Data Exchange (ETDEWEB)

    Gielen, Jan Louis [Antwerp University Hospital, Department of Radiology, Antwerp (Belgium); Antwerp University Hospital, Multidisciplinary Department of Sports Medicine, Antwerp (Belgium); Peersman, Benjamin; Dyck, Pieter van; Vanhoenacker, Filip [Antwerp University Hospital, Department of Radiology, Antwerp (Belgium); Peersman, Geert [ZNA, Department of Orthopaedic Surgery, Antwerp (Belgium); Roelant, Ella [Antwerp University Hospital, Department of Scientific Coordination, Antwerp (Belgium); Roeykens, Johan [Antwerp University Hospital, Multidisciplinary Department of Sports Medicine, Antwerp (Belgium)

    2009-12-15

    The purpose of this prospective study was to demonstrate the findings of MRI in motocross racers with chronic exertional compartment syndrome (CECS) of the forearm. Racers with proven CECS and without CECS and male individuals not involved in strenuous activities with the forearm were included. Signal intensity (SI) and signal-to-noise ratio (SNR) obtained before and after exercise were compared (D-SNR). Magnetic resonance imaging after exercise showed an increase in SI and SNR in the muscles on T2-WI. The SI increase was obvious in the flexor digitorum superficialis (FDS) and profundus (FDP) in all CECS patients. In addition, a minor SI and SNR increase in the extensor carpi radialis longus (ECRL) was noted. In the non-symptomatic group of motocross racers, there was only a minor increase in SI and the SNR, which was similar in the FDP and ECRL muscles. In the untrained individuals a remarkable increase in the SI and SNR of the FDS/FDP-ECRL was noted. This increased SI and SNR was not present in the majority of non-symptomatic racers. Post-exertional MRI produces significant findings in CECS of the forearm. The motocross racers without post-exertional oedema in the FDP/FDS had no CECS. (orig.)

  16. Solitary rectal ulcer syndrome: clinical, endoscopic, histological and anorectal manometry findings in north Indian patients.

    Science.gov (United States)

    Behera, M K; Dixit, V K; Shukla, S K; Ghosh, J K; Abhilash, V B; Asati, P K; Jain, A K

    2015-01-01

    Solitary rectal ulcer syndrome (SRUS) is a chronic, benign defecation disorder often related to excessive straining. SRUS is diagnosed on the basis of clinical symptoms, endoscopic and histological findings. All patients diagnosed with SRUS by colonoscopy and confirmed by histopathology from October 2012 to August 2014 in the Department of Gastroenterology, Institute of Medical Sciences, Banaras Hindu University, India, were included in the study. Out of 92 patients, thirty-four patients underwent anorectal manometry. Twenty age-matched healthy volunteers were also studied with anorectal manometry to serve as controls. Mean age of the group was 41 ± 19 years with age range of 10-82 years; males were 58 (63%) with male to female ratio of 1.7:1. Bleeding per rectum was present in 83%, constipation in 46.7%, abdominal pain in 27.2%, and diarrhea in 25% of the patients. On endoscopy, ulcerative lesions were seen in 83% patients of whom solitary and multiple lesions were present in 44% and 39%, respectively. Polypoidal lesions were reported in 17.4% whilst rectal polyps and erythematous mucosa were found in 5.4% and 2.2%, respectively. Histological examination revealed fibromuscular obliteration in 100% of patients, surface ulceration in 70.6% and crypt distortion in 20.65% of patients. Anal relaxation and balloon expulsion test was significantly abnormal in SRUS patients compared to healthy controls (53% vs. 20%, p ulcerative lesions the most common endoscopic finding. Fecal evaluation disorder was more prevalent inpatients with SRUS.

  17. [Usefulness of cephalometry and pharyngeal findings in the primary diagnosis of obstructive sleep apnea syndrome].

    Science.gov (United States)

    Kitamura, Takuro; Sakabe, Akiko; Ueda, Narihisa; Shiomori, Teruo; Udaka, Tsuyoshi; Ohbuchi, Toyoaki; Suzuki, Hideaki

    2008-11-01

    We studied the usefulness of cephalometry and pharyngeal findings in determining efficient primary diagnosis of obstructive sleep apnea syndrome (OSAS). Subjects were 171 adult men with sleep-disordered breathing, who underwent cephalometry and polysomnography (PSG) and had pharyngeal findings evaluated by modified Mallampati grade (MMP) and palatine tonsil size. An apnea-hypopnea index (AHI) of > or = 15 in PSG was considered to indicate OSAS. We analyzed the correlation between AHI and other parameters and conducted stepwise multiple regression analysis to predict AHI, and studied the screening performance of prediction equations using a receiver operating characteristic (ROC) curve. Of the 8 cephalometric parameters examined, the length of the soft palate (PNS-P; p = 0.011) and the distance from the mandibular plane to the hyoid bone (MP-H; p (a) > (b). Sensitivity and of equation (c) with a cutoff of 15 were 0.95 and specificity 0.25. These results indicate that both cephalometric parameters and pharyngeal indices should be included in conducting an efficient primary diagnosis for OSAS.

  18. F-18 FDG PET scan findings in patients with pulmonary involvement in the hypereosinophilic syndrome

    International Nuclear Information System (INIS)

    Lee, Jae Hoon; Kim, Tae Hoon; Yun, Mi Jin

    2005-01-01

    Hypereosinophilic syndrome (HES) is an infiltrative disease of eosinophils affecting multiple organs including the lung. F-18 2-fluoro-2-deoxyglucose (F-18 FDG) may accumulate at sites of inflammation or infection, making interpretation of whole body PET scan difficult in patients with cancer. This study was to evaluate the PET findings of HES with lung involvement and to find out differential PET features between lung malignancy and HES with lung involvement. F-18 FDG PET and low dose chest CT scan was performed for screening of lung cancer. Eight patients who showed ground-glass attenuation (GGA) and consolidation on chest CT scan with peripheral blood eosinophilia were included in this study. The patients with history of parasite infection, allergy and collagen vascular disease were excluded. CT features and FDG PET findings were meticulously evaluated for the distribution of GGA and consolidation and nodules on CT scan and mean and maximal SUV of abnormalities depicted on F-18 FDG PET scan. In eight patients, follow-up chest CT scan and FDG PET scan were done one or two weeks after initial study. F-18 FDG PET scan identified metabolically active lesions in seven out of eight patients. Maximal SUV was ranged from 2.8 to 10.6 and mean SUV was ranged from 2.2 to 7.2. Remaining one patient had maximal SUV of 1.3. On follow-up FDG PET scan taken on from one to four weeks later showed decreased degree of initially noted FDG uptakes or migration of previously noted abnormal FDG uptakes. Lung involvement in the HES might be identified as abnormal uptake foci on FDG PET scan mimicking lung cancer. Follow-up FDG PET and CT scan for the identification of migration or resolution of abnormalities and decrement of SUV would be of help for the differentiation between lung cancer and HES with lung involvement

  19. [Mucocutaneous lymph node syndrome in Austria. Four cases with one fatal outcome. 2. Pathological findings].

    Science.gov (United States)

    Becker, H; Höfler, H; Urban, C; Grubbauer, H M; Beitzke, A

    1981-07-01

    First pathoanatomic case report of mucocutaneous lymph-node syndrome (MCLS) from Austria: A 3 1/2 year old boy was admitted to the Pediatric Department with a six day history of fever and bilateral conjunctivitis. He showed a maculous exanthema, red and fissuring lips, reddened tonsils and a coated tongue. Submandibular lymph nodes were swollen (1 cm diameter); ESR 128/138; peripheral leukocytosis 17 x 10(9)/l. On the tenth day of illness membranous desquamation from the fingertips and a strawberry tongue was observed. The ECG showed a myocardial infarction in the apical portion of the left ventricle. The boy died on the 25th day of illness. Pathological findings were found predominantly in the heart: Coronary arteries showed fibrous thickening of intimal layer, focal destruction of elastic membrane and aneurysms in both arteries. The aneurysm in the descending branch of the left coronary artery was 15 mm long and had a maximum diameter of 8 mm. It was completely occluded by a thrombus. Recurring anteroseptal myocardial infarction. Other investigated arteries were not affected. Tonsils as well as (paratracheal and parapancreatic) lymph-nodes showed a few ceroid pigment containing histiocytes.

  20. A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings

    Directory of Open Access Journals (Sweden)

    Da-Peng Sun

    2017-06-01

    Full Text Available AIM: To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome (ARS and characterize the molecular defect in PITX2 in the family. METHODS: Patients presented with typical ARS from a Chinese family were investigated. We performed genome-wide linkage scan and exome sequencing to identify the pathogenic mutations. Candidate mutations were verified for co-segregation in the whole pedigree using Sanger sequencing. Real-time polymerase chain reaction (RT-PCR and Western blotting were performed to verify the expression of the pathogenic gene. RESULTS: Genome-wide linkage and exome sequencing analyses showed PITX2 as the disease candidate gene. A>G substitution at position -11 of 3’ss of exon 5 (IVS5-11A>G that co-segregated with the disease phenotype was discovered in the family. The PITX2 messenger ribonucleic acid and protein levels were about 50% lower in patients with ARS than in unaffected family members in the family. CONCLUSION: Our findings implicate the first intronic mutation of the PITX2 gene in the pathogenesis of a severe form of ARS in a Chinese family. This study highlights the importance of a systematic search for intronic mutation in ARS cases for which no mutations in the exons of PITX2 have been found.

  1. Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome

    Directory of Open Access Journals (Sweden)

    Kuanshu Li

    2017-01-01

    Full Text Available Purpose. To describe a Chinese family with Axenfeld-Rieger syndrome (ARS and report our novel genetic findings. Methods. Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were found. Results. Through the ophthalmologic examinations, 8 subjects were diagnosed as ARS and 1 subject was normal. A homozygous mutation c.1139_1141dupGCG(p.Gly380_Ala381insGly and a heterozygous mutation c.1359_1361dupCGG(p.Gly456_Gln457insGly in FOXC1 were identified in all subjects. The mutation (c.-10-30T>C was identified in PITX2 in subjects III-1 and III-3. Conclusions. We found novel gene mutations in a Chinese family with ARS, which provides us with a better understanding of the gene mutation spectrum of ARS and the assistance for the genetic counseling and gene-specific therapy in the future.

  2. Neurological Dysfunction Associated with Antiphospholipid Syndrome: Histopathological Brain Findings of Thrombotic Changes in a Mouse Model

    Directory of Open Access Journals (Sweden)

    Lea Ziporen

    2004-01-01

    Full Text Available The aim of this work was to study the pathological processes underlying neurological dysfunctions displayed by BALB/C mice induced with experimental antiphospholipid syndrome (APS, as we have previously reported. Experimental APS was induced in female BALB/C mice by immunization with a pathogenic monoclonal anticardiolipin (aCL antibody, H-3 (n=10, or an irrelevant immunoglobulin in controls (n=10. Mice immunized with H-3 developed clinical and neurological manifestations of APS, including: embryo resorption, thrombocytopenia neurological defects and behavioral disturbances. In mouse sera, the titer of various autoantibodies were elevated, including: anti-phospholipids (aPLs, anti-2 glycoprotein-I (β2GPI, anti-endothelial cell antibodies (AECA and low titer of anti-dsDNA antibodies. Five months after APS induction, mice were sacrificed and brain tissue specimens were processed for hematoxylin and eosin (H&E, immunofluorescence staining and transmission electron microscopy (TEM. H&E staining of cortical tissue derived from all APS mice revealed mild inflammation, localized mainly in the meninges. Prominent IgG deposits in the large vessel walls and perivascular IgG leakage were observed by immunofluorescence. No large thrombi were observed in large vessels. However, EM evaluation of cerebral tissue revealed pathological changes in the microvessels. Thrombotic occlusion of capillaries in combination with mild inflammation was the main finding and may underlie the neurological defects displayed by mice with APS.

  3. Immune Recovery Syndrome in the HIV-positive patient: Radiological Findings of Paradoxical Reactions

    International Nuclear Information System (INIS)

    Martinez, E.; Sanchez, M. A.; Torres, M.; Benito, J.; Avila, A.

    2004-01-01

    To describe immune recovery syndrome (IRS) and related radiological findings in HIV-positive patients. To alert radiologists to the ever-increasingly frequent appearance of paradoxical reactions (PR) in granulomatous diseases under antiretroviral treatment. We present a retrospective study of 9 adult HIV-positive patients who showed IRS, 6 cases of tuberculosis (TBC), 2 cases of atypical mycobacterium and a case of sarcoidosis. At the time of IRS/PR diagnosis, any suspicion of infectious activity was excluded through the use of appropriate microbiological tests. clinical and radiological characteristics of the above mentioned cases are analyze here. All patients experienced a clinical and/or radiological worsening of condition following variable periods of antiretroviral and/or anti-tuberculosis treatment, and coinciding with viral load decrease and CD4-T-lymphocyte recovery. Diagnosis of IRS/PR was clinical in five cases and radiological in four. In all but one case, antiretroviral treatment had at some time been previously administered. IRS/PR is a diagnosis of exclusion which must be included in the differential diagnosis of newly appearing lesions or worsening of already existing ones in HIV-positive patients that have recently begun antiretroviral and/or anti-tuberculosis treatment. Such should be done after excluding drug resistance, treatment non-adherence and intercurrent disease. (Author) 8 refs

  4. Fluctuating serotonergic function in premenstrual dysphoric disorder and premenstrual syndrome: findings from neuroendocrine challenge tests.

    Science.gov (United States)

    Inoue, Y; Terao, T; Iwata, N; Okamoto, K; Kojima, H; Okamoto, T; Yoshimura, R; Nakamura, J

    2007-02-01

    Premenstrual dysphoric disorder (PMDD) has been assumed to be a subtype of premenstrual syndrome (PMS) with depressive symptoms, such as depressive mood, tension, anxiety, and mood liability during luteal phase. At present, no conclusion has been established about serotonergic function in PMDD. The purpose of this study was to investigate the serotonergic function of PMDD subjects in comparison to PMS without PMDD subjects and normal controls via neuroendocrine challenge tests. Twenty-four women (seven with PMDD, eight with PMS without PMDD, and nine normal controls) were tested on three occasions (follicular phase, early luteal phase, and late luteal phase) receiving paroxetine 20 mg orally as a serotonergic probe at 8:00 A: .M: . Plasma ACTH and cortisol were measured prior to the administration and every hour for 6 h thereafter. As a whole, there were significant differences in serotonergic function measured by ACTH and cortisol responses to paroxetine challenge across these three groups. PMDD subjects showed higher serotonergic function in follicular phase but lower serotonergic function in luteal phase, compared with women with PMS without PMDD and normal controls. The present findings suggest that PMDD women have fluctuating serotonergic function across their menstrual cycles and that the pattern may be different from PMS without PMDD.

  5. Trapped neutrophil syndrome in a Border Collie dog: clinical, clinico-pathologic, and molecular findings.

    Science.gov (United States)

    Mizukami, Keijiro; Shoubudani, Tomoaki; Nishimoto, Seira; Kawamura, Ryuta; Yabuki, Akira; Yamato, Osamu

    2012-06-01

    Trapped neutrophil syndrome (TNS) is an autosomal recessive inherited neutropenia known in Border Collies since the 1990's. Recently, the causative mutation has been identified in the canine VPS13B gene and a DNA-based diagnosis has now become available. The present paper describes clinical and clinico-pathologic findings in a Border Collie with TNS that was molecularly diagnosed for the first time in Japan. In a 10-week-old male Border Collie with microgenesis and symptoms related to recurrent infections, a hematological examination revealed severe leukopenia due to neutropenia, suggesting the dog to be affected by inherited neutropenic immunodeficiency. Direct DNA sequencing demonstrated that the dog was homozygous for the causative mutation of TNS and both its parents were heterozygous carriers. In addition, a simple and rapid polymerase chain reaction-based length polymorphism analysis coupled with microchip electrophoresis was developed for the genotyping of TNS. This assay could discriminate clearly all genotypes, suggesting that it was suitable for both individual diagnosis and large-scale surveys for prevention.

  6. Posterior Reversible Encephalopathy Syndrome in Pediatric Cancer: Clinical and Radiologic Findings

    Directory of Open Access Journals (Sweden)

    Saadiya Javed Khan

    2017-12-01

    Full Text Available Purpose: Posterior reversible encephalopathy syndrome (PRES is associated with a range of medical conditions and medications. In this retrospective analysis, we present 19 pediatric patients with PRES who had undergone chemotherapy. Methods: We identified four female and 15 male patients diagnosed with PRES on the basis of clinical and radiologic features. Patient charts were reviewed from January 2013 to June 2016 after authorization from the institutional review board. Results: The average age of patients with PRES was 7 years. Primary diagnoses were non-Hodgkin lymphoma (n = 9, acute pre–B-cell leukemia (n = 5, relapsed pre–B-cell leukemia (n = 2, Hodgkin lymphoma (n = 2, and Ewing sarcoma (n = 1. PRES occurred during induction chemotherapy in 12 patients. Sixteen patients had hypertension when they developed PRES. Most of these patients (n = 13 were receiving corticosteroids on diagnosis of PRES. Common clinical features were hypertension, seizures, and altered mental status. With the exclusion of three patients, all others required antiepileptic therapy. Ten of these patients underwent additional magnetic resonance imaging. Ten patients are still alive. Conclusion: In patients who presented to our center with signs and symptoms of hypertension, seizures, visual loss, or altered mental status, PRES was mostly seen in those who were undergoing systemic and intrathecal chemotherapy. Approximately 40% of the patients had reversal of clinical and radiologic findings. Antiepileptic medications were discontinued after being seizure free for approximately 6 months.

  7. Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome.

    Science.gov (United States)

    Bayram, M; Yildirim, M; Seymen, F

    2015-02-01

    The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities. The aim of this case report is to present clinical and oral findings of an 8-year-old boy who had been diagnosed with SGBS. This patient had supernumerary nipples on the right side, cubitus valgus webbed fingers, scoliosis, umbilical hernia, a coarse face, macrocephaly, hypertelorism, a short broad nose, a wide mouth, a straight facial profile and hearing loss. The patient also had macroglossia, diastemas, over-retained primary tooth, absent mandibular permanent central incisors, and highly arched palate. Lateral cephalometric analysis revealed a large anterior cranial base, a large maxilla and mandible, a large inferior face height, and skeletal Class III jaw relationship. After extraction of the over-retained primary central tooth, a partial prosthesis was fabricated in order to maintain function. The patient has been recalled regularly at 6-month intervals for 2 years. Over the following years the prosthesis was replaced due to facial growth. Long term follow-up is essential for the patient with SGBS. Preventive dental care, including oral hygiene instructions, diet counselling and the use of fluoride has been implemented.

  8. Dilated dysplastic vestibule: a new computed tomographic finding in patients with large vestibular aqueduct syndrome.

    Science.gov (United States)

    Emmrich, Julius V; Fatterpekar, Girish M

    2011-01-01

    Large vestibular aqueduct syndrome (LVAS) is one of the most common anomalies of the inner ear. The purpose of our study was to evaluate the vestibule for associated aberrations. In particular, we assessed the vestibular volume in patients with LVAS, compared it to an age-matched control population, and evaluated the relationship between the size of the vestibular aqueduct and the vestibule. We reviewed studies of high-resolution computed tomography of temporal bone of 24 consecutive patients with LVAS (15 girls and 9 boys; average age, 8.1 years). Of these, 21 patients had bilateral LVAS and 3 patients had unilateral LVAS. Each ear was evaluated for the size of the vestibular aqueduct and the volume of the vestibule. Similar measurements were obtained in an age-matched control population (28 girls and 18 boys; average age, 8.3 years). The volume of the vestibule was found to be significantly enlarged in patients with LVAS compared to the control population (right ear, P vestibular aqueduct and corresponding increase in the volume of the vestibule (right side, P < 0.01; left side, P < 0.01). A dilated dysplastic vestibule is a consistently associated finding in patients with LVAS.

  9. Is dissociative amnesia a culture-bound syndrome? Findings from a survey of historical literature.

    Science.gov (United States)

    Pope, Harrison G; Poliakoff, Michael B; Parker, Michael P; Boynes, Matthew; Hudson, James I

    2007-02-01

    Natural human psychological phenomena, such as depression, anxiety, delusions, hallucinations and dementia, are documented across the ages in both fictional and non-fictional works. We asked whether 'dissociative amnesia' was similarly documented throughout history. We advertised in three languages on more than 30 Internet web sites and discussion groups, and also in print, offering US$1000 to the first individual who could find a case of dissociative amnesia for a traumatic event in any fictional or non-fictional work before 1800. Our search generated more than 100 replies; it produced numerous examples of ordinary forgetfulness, infantile amnesia and biological amnesia throughout works in English, other European languages, Latin, Greek, Arabic, Sanskrit and Chinese before 1800, but no descriptions of individuals showing dissociative amnesia for a traumatic event. If dissociative amnesia for traumatic events were a natural psychological phenomenon, an innate capacity of the brain, then throughout the millennia before 1800, individuals would presumably have witnessed such cases and portrayed them in non-fictional works or in fictional characters. The absence of cases before 1800 cannot reasonably be explained by arguing that our ancestors understood or described psychological phenomena so differently as to make them unrecognizable to modern readers because spontaneous complete amnesia for a major traumatic event, in an otherwise lucid individual, is so graphic that it would be recognizable even through a dense veil of cultural interpretation. Therefore, it appears that dissociative amnesia is not a natural neuropsychological phenomenon, but instead a culture-bound syndrome, dating from the nineteenth century.

  10. Optical coherence tomography findings and successful repair of retina detachment in Knobloch syndrome.

    Science.gov (United States)

    Ebrahimiadib, Nazanin; Modjtahedi, Bobeck S; Ferenchak, Kevin; Papakostas, Thanos D; Mantagos, Jason S; Vavvas, Demetrios G

    2017-01-01

    A 7-year-old Afghani girl was referred to the retina clinic of Massachusetts Eye and Ear for a chronic-appearing, macula-off retinal detachment in the left eye. On examination, best-corrected visual acuity was 20/400 in the right eye and 20/800 in the left eye. She had bilateral horizontal nystagmus. Ophthalmoscopy revealed prominent choroidal vessels, chorioretinal atrophy in the macular area, attenuated retinal vasculature, and pale optic discs bilaterally. Spectral domain optical coherence tomography demonstrated atrophy of the choriocapillaris and the retinal pigment epithelium, retinal thinning, and abnormal foveal contour. In the right eye, findings were reminiscent of dome shape maculopathy with an adjacent lesion suspicious for inactive choroidal neovascularization. A suspected diagnosis of Knobloch syndrome was confirmed by genetic testing, which showed a homozygous variant in exon 33 of the COL18A1 gene defined as c.3213dupC. She underwent cryotherapy and scleral buckling surgery in the left eye and remained attached bilaterally at 3 years' follow-up, with progressive myopia and best-corrected visual acuity of 20/100 in the right eye and 20/125 in the left eye.

  11. Salivary flow rate and oral findings in Prader-Willi syndrome: a case-control study.

    Science.gov (United States)

    Saeves, Ronnaug; Nordgarden, Hilde; Storhaug, Kari; Sandvik, Leiv; Espelid, Ivar

    2012-01-01

    BACKGROUND. Prader-Willi syndrome (PWS) is a rare complex multisystemic genetic disorder. AIM. The objective of this study was to provide a systematic assessment of whole saliva secretion and oral manifestations associated with PWS. DESIGN. Fifty individuals (5-40 years) with PWS and an age- and sex-matched control group were included. Whole saliva was collected. All participants underwent an anamnestic interview. Radiological and dental clinical examinations were carried out to identify hypodontia, dental caries, enamel defects and gingival inflammation. RESULTS. Mean whole salivary flow rate was 0.12 ± 0.11 mL/min in the study group compared with 0.32 ± 0.20 mL/min in the control group (P 19 years was significantly lower in PWS (P = 0.04) compared with the controls. There was no significant difference in the prevalence of dental caries in the primary dentition or in the frequency of enamel defects in the permanent dentition between the two groups. Median Gingival Index was significantly higher in the Prader-Willi group compared with the controls (P = 0.02). CONCLUSIONS. Low salivary flow is a consistent finding in PWS. Nevertheless, despite dry mouth and dietary challenges, dental caries is not increased in Norwegian individuals with PWS. © 2011 The Authors. International Journal of Paediatric Dentistry © 2011 BSPD, IAPD and Blackwell Publishing Ltd.

  12. Increased pain sensitivity is not associated with electrodiagnostic findings in women with carpal tunnel syndrome.

    Science.gov (United States)

    de la Llave-Rincón, Ana Isabel; Fernández-de-las-Peñas, César; Laguarta-Val, Sofia; Alonso-Blanco, Cristina; Martínez-Perez, Almudena; Arendt-Nielsen, Lars; Pareja, Juan A

    2011-01-01

    To determine the differences in widespread pressure pain and thermal hypersensitivity in women with minimal, moderate, and severe carpal tunnel syndrome (CTS) and healthy controls. A total of 72 women with CTS (19 with minimal, 18 with moderate, and 35 with severe) and 19 healthy age-matched women participated. Pressure pain thresholds were bilaterally assessed over the median, ulnar, and radial nerves, the C5 to C6 zygapophyseal joint, the carpal tunnel, and the tibialis anterior muscle. In addition, warm and cold detection thresholds and heat and cold pain thresholds were bilaterally assessed over the carpal tunnel and the thenar eminence. All outcome parameters were assessed by an assessor blinded to the participant's condition. No significant differences in pain parameters among patients with minimal, moderate, and severe CTS were found. The results showed that PPT were significantly decreased bilaterally over the median, ulnar, and radial nerve trunks, the carpal tunnel, C5 to C6 zygapophyseal joint, and the tibialis anterior muscle in patients with minimal, moderate, or severe CTS as compared with healthy controls (all, P<0.001). In addition, patients with CTS also showed lower heat pain threshold and reduced cold pain threshold compared with controls (P<0.001). No significant sensory differences between minimal, moderate, or severe CTS were found. The similar widespread pressure and thermal hypersensitivity in patients with minimal, moderate, or severe CTS and pain intensity suggests that increased pain sensitivity is not related to electrodiagnostic findings.

  13. Interstitial lung disease in anti-synthetase syndrome: Initial and follow-up CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Debray, Marie-Pierre, E-mail: marie-pierre.debray@bch.aphp.fr [AP-HP, Bichat-Claude Bernard Hospital, Department of Radiology, 46, rue Henri Huchard, 75877 Paris Cedex 18 (France); Borie, Raphael, E-mail: raphael.borie@bch.aphp.fr [AP-HP, Bichat-Claude Bernard Hospital, Department of Pneumology A and Centre de Compétence Maladies Pulmonaires rares, DHU Fire 46, rue Henri Huchard, 75877 Paris Cedex 18 (France); Inserm, U1152, Paris (France); Revel, Marie-Pierre, E-mail: marie-pierre.revel@htd.aphp.fr [AP-HP, Cochin Hospital, Department of Radiology, 27, Rue du Fg Saint Jacques, 75679 Paris Cedex 14 (France); Naccache, Jean-Marc, E-mail: jean-marc.naccache@tnn.aphp.fr [AP-HP, Avicenne Hospital, Department of Pneumology and Centre de Compétence Maladies Pulmonaires rares, Bobigny (France); AP-HP, Tenon Hospital, Department of Pneumology and Centre de Compétence Maladies Pulmonaires rares, 4, rue de la Chine, 75020 Paris (France); Khalil, Antoine, E-mail: antoine.khalil@tnn.aphp.fr [AP-HP, Tenon Hospital, Department of Radiology, 4, rue de la Chine, 75020 Paris (France); Toper, Cécile, E-mail: cecile.toper@gmail.com [AP-HP, Tenon Hospital, Department of Pneumology and Centre de Compétence Maladies Pulmonaires rares, 4, rue de la Chine, 75020 Paris (France); Israel-Biet, Dominique, E-mail: dominique.israel-biet@egp.aphp.fr [Université Paris Descartes and AP-HP, Department of Pneumology, Georges Pompidou European Hospital, 20, rue Leblanc, 75015 Paris (France); and others

    2015-03-15

    Purpose: To describe the initial and follow-up CT features of interstitial lung disease associated with anti-synthetase syndrome (AS-ILD). Materials and methods: Two independent thoracic radiologists retrospectively analysed thin-section CT images obtained at diagnosis of AS-ILD in 33 patients (17 positive for anti-Jo1, 13 for anti-PL12, and three for anti-PL7 antibodies). They evaluated the pattern, distribution and extent of the CT abnormalities. They also evaluated the change in findings during follow-up (median 27 months; range 13–167 months) in 26 patients. Results: At diagnosis, ground-glass opacities (100%), reticulations (87%) and traction bronchiectasis (76%) were the most common CT findings. Consolidations were present in 45% of patients. A non-specific interstitial pneumonia (NSIP), organizing pneumonia (OP) or mixed NSIP-OP CT pattern were observed in 15 out of 33 (45%), seven out of 33 (21%) and eight out of 33 (24%) patients, respectively, whereas the CT pattern was indeterminate in three patients. During follow-up, consolidations decreased or disappeared in 11 out of 12 patients (92%), among which seven within the first 6 months, but honeycombing progressed or appeared in ten out of 26 patients (38%) and overall disease extent increased in nine out of 26 patients (35%). Conclusion: CT features at diagnosis of AS-ILD mainly suggest NSIP and OP, isolated or in combination. Consolidations decrease or disappear in most cases but the disease may progress to fibrosis in more than one third of patients.

  14. Grammatical Constructions in Cri du Chat Syndrome--Findings from a Case Study

    Science.gov (United States)

    Kristoffersen, Kristian Emil

    2009-01-01

    The literature on grammatical skills in persons with Cri du chat syndrome (CCS) is very limited, and the need for more knowledge in this area is thus evident, in particular for speech and language therapists working with individuals with this syndrome. This case study report describes the syntactic skills of a 14-year-old Norwegian girl with CCS.…

  15. Anterior interosseous nerve syndrome diagnosis and intraoperative findings: A case report

    Directory of Open Access Journals (Sweden)

    Abdulla Aljawder

    2016-01-01

    Conclusion: Clinical suspicion should arise in the presence of isolated paralysis of the AIN-supplied muscles. MRI and electrodiagnostic studies will confirm the diagnosis and identify the etiology. The optimal treatment of AIN syndrome has not been established. We recommend surgical intervention in confirmed AIN syndrome from compression neuropathy, refractive to conservative therapy.

  16. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

    Directory of Open Access Journals (Sweden)

    Dichter Gabriel S

    2012-07-01

    Full Text Available Abstract This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders, neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder, and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome. We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

  17. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients

    NARCIS (Netherlands)

    Myers, K.A.; Mandelstam, S.A.; Ramantani, G.; Rushing, E.J.; Vries, B.B. de; Koolen, D.A.; Scheffer, I.E.

    2017-01-01

    OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous

  18. A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings

    NARCIS (Netherlands)

    Bhuiyan, Z. A.; Zilfalil, B. A.; Hennekam, R. C. M.

    2006-01-01

    The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs. The prevalence is estimated to be one per 10,000. Recently, several independent groups proved that

  19. Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study.

    Science.gov (United States)

    Handler, Marc Z; Derrick, Kristina M; Lutz, Richard E; Morrell, Dean S; Davenport, Marsha L; Armstrong, April W

    2013-05-01

    The absence of data on the prevalence of pilomatricoma among patients with Turner syndrome served as the catalyst for this multicenter investigation. To ascertain the prevalence of pilomatricoma among patients with Turner syndrome and to determine any association between the development of pilomatricomas and the use of exogenous hormones in patients with Turner syndrome. A retrospective medical record review from January 1, 2000, through January 1, 2010, was performed of all patients with Turner syndrome. Data on pilomatricomas and the use of hormone therapy were collected. University of California-Davis Medical Center, University of Nebraska Medical Center, and The University of North Carolina at Chapel Hill. Patients with a diagnosis of Turner syndrome. Prevalence of concomitant pilomatricoma and diagnosis of Turner syndrome. Secondary outcome measures included the use of the exogenous hormones estrogen or recombinant human growth hormone (rhGH). In total, 311 patients with Turner syndrome were identified from these 3 institutions. Among them, 8 patients (2.6%) were diagnosed as having pilomatricomas. Before the development of pilomatricomas, 5 patients had been treated with rhGH but not estrogen, 1 patient had received estrogen but not rhGH, and 2 patients did not receive either therapy. Although the prevalence of pilomatricoma among the general population is unknown, this study demonstrates a high prevalence (2.6%) of pilomatricomas among patients with Turner syndrome. No apparent relationship was noted among our patients or in the literature between the use of rhGH and the development of pilomatricomas.

  20. Multimodality cardiac imaging in Turner syndrome.

    Science.gov (United States)

    Mortensen, Kristian H; Gopalan, Deepa; Nørgaard, Bjarne L; Andersen, Niels H; Gravholt, Claus H

    2016-06-01

    Congenital and acquired cardiovascular diseases contribute significantly to the threefold elevated risk of premature death in Turner syndrome. A multitude of cardiovascular anomalies and disorders, many of which deleteriously impact morbidity and mortality, is frequently left undetected and untreated because of poor adherence to screening programmes and complex clinical presentations. Imaging is essential for timely and effective primary and secondary disease prophylaxis that may alleviate the severe impact of cardiovascular disease in Turner syndrome. This review illustrates how cardiovascular disease in Turner syndrome manifests in a complex manner that ranges in severity from incidental findings to potentially fatal anomalies. Recommendations regarding the use of imaging for screening and surveillance of cardiovascular disease in Turner syndrome are made, emphasising the key role of non-invasive and invasive cardiovascular imaging to the management of all patients with Turner syndrome.

  1. INCIDENTAL VOCABULARY LEARNING THROUGH READING

    Directory of Open Access Journals (Sweden)

    Holly Warzecha, M.A. TESOL

    2017-04-01

    Full Text Available The purpose of the following paper is to take a closer look at the benefits of incidental learning through reading, with a specific focus on vocabulary acquisition. The teaching of vocabulary has traditionally been an explicit process where the target vocabulary is taken out of context and taught separately. However, this kind of explicit teaching and learning may only take into account a form-meaning connection. Therefore, this paper explores research on incidental learning and specifically looks at what it takes to acquire new vocabulary incidentally through reading while considering the coverage rates of texts, how many words must be known already from the text, how many repetitions it takes to learn a word, types of texts that promote learning, and the effects of pairing students‘ reading with learner tasks. After reviewing many studies, it can be concluded that more reading is better. More specifically, extensive reading of chosen novels at an appropriate level and interest to the students showed important gains in vocabulary. In addition, readings that were supplemented with additional activities that focused on both form and meaning showed an even higher increase in word retention.

  2. The Incidental Thyroid Lesion in Parathyroid Disease Management

    Directory of Open Access Journals (Sweden)

    Uthman Alamoudi MD

    2017-03-01

    Full Text Available Objective The incidental thyroid lesion is a common finding during general imaging studies. Their management has been the subject of numerous studies and recommendations. Parathyroid disease workup necessitates imaging investigation of the adjacent thyroid gland and therefore provides a unique window to the perioperative management of thyroid incidentaloma. The specific prevalence of incidental thyroid lesions in the context of parathyroid disease is unknown. We seek to investigate its prevalence during parathyroid workup and surgery and to ascertain if there was a change in management of these patients. Study Design Five-year retrospective database review. Setting Tertiary care medical center. Subjects and Methods The source and indication for referral, preoperative investigation findings, and management of the incidental thyroid lesions were examined. The actual procedure performed and final pathology results were assessed. Results A total of 98 patients and 106 operations, including revision surgeries, were identified. There were 21 incidental thyroid lesions (21.4% detected, whereby 15 patients underwent fine-needle aspirations and 12 subsequently had diagnostic hemithyroidectomies. This decision was made preoperatively in 5 patients and intraoperatively in 7 patients at the time of parathyroid surgery. Along with other pathologies, there were 7 patients with micropapillary thyroid carcinoma identified. Conclusions In our series, the prevalence of incidental thyroid lesion and thyroid malignancy is comparable to the general population. The management of the initial parathyroid disease in our patients was altered by the imaging and cytological findings of these thyroid lesions. This has implications on perioperative counseling of the thyroid and parathyroid disease.

  3. [Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports].

    Science.gov (United States)

    Nasser, Luciano Sólia; Paranaíba, Lívia Maris Ribeiro; Frota, Ana Cláudia; Gomes, Andreia; Versiani, Gisele; Martelli Júnior, Hercílio

    2012-10-01

    To describe the clinical and imaginological features of two families with Waardenburg syndrome: type I and II, with emphasis on ophthalmic manifestations, as well as the pattern of genetic inheritance. We conducted a clinical study involving two families affected by Waardenburg syndrome, and through the pedigree, determined the present pattern of genetic inheritance. Analyses were performed including the measurement of visual acuity, the presence of dystopia cantorum (telecanthus), evaluation of iris color and retinal mapping, as well as dermatological and otological examinations. The pedigree of the family affected by the Waardenburg syndrome type I showed an autosomal dominant mode of transmission. The syndrome was present at 85.71% of patients. The dystopia cantorum was the most frequent feature, followed by the white streak on the skin of the forehead, hypopigmentation of the iris and retina and deafness. The Waardenburg syndrome family type II had 33.33% of family members affected by the syndrome. No member had dystopia cantorum and hypopigmentation of the iris. Three patients had sensorineural hearing loss (12.5%), associated with white forelock and achromatic spots confluent by the body. This study shows the importance of the ophthalmologist in aiding the diagnosis of this rare genetic condition, since it includes ocular disorders such as telecanthus, hypopigmentation of the iris and retina. The cantorum dystopia is the main diagnostic criterion to differentiate type I and II syndrome and should be done by a trained ophthalmologist. The families are in medical monitoring, receiving genetic guidelines and care related to eye protection.

  4. The Ultrasonographic Findings of Trigger Points of Myofascial Pain Syndrome in a Rabbit Model

    International Nuclear Information System (INIS)

    Moon, Kyung Mi; Park, Seog Hee; Lee, Sang Heon; Kim, Joo Hyun; Kim, Han Kyum

    2005-01-01

    Myofascial pain syndrome (MPS) is a common cause of musculoskeletal pain. Myofascial trigger points (MTrPs) have been repeatedly described by numerous authors. However, there have been few studies in which their existence and behavior was supported and their location confirmed. The purpose of this study was to determine whether diagnostic ultrasonography is an objective diagnostic tool which is able to significantly identify or detect the soft tissue changes in the region of clinically identified active MTrPs by using a rabbit experimental model. Ten MPS model rabbits were used in this study. We made an MPS animal model by causing the rabbits to overuse one leg for 3 weeks by cutting the contralateral L4 spinal nerve root. We compared the ultrasonographic findings of the taut band at pre-OP with those at post-OP during the consecutive three week period. To find the taut bands of the muscle, after skin exposure, the muscles were gently rubbed or pinched with the thumb and index finger on the two opposing surfaces of the muscle across the direction of the fibers. Then, the muscle was held in the same way, but with a 5-8 MHz stick probe being used in place of the thumb. After the palpation of various muscles, we selected the hardest and largest myofascial trigger nodule, in order to observe the ultrasonographic and power Doppler findings of the MPS. The size, shape, echogenecity and vascularity of the MTrPs were observed. The analysis of the results of the ultrasonography revealed that all MTrPs have a hyperechoic area. The mean thickness of the hyperechoic lesion in the biceps was 0.96±0.14 cm in the MPS site (at pre-OP?), and 0.49±0.12 cm at post-OP 3weeks (p < 0.01). The hyperechoic lesions in all of the studied biceps femoris of the rabbits were observed by high resolution ultrasonography. No definitively decreased vascularity was observed within the hyperechoic area by power Doppler imaging. Until now, there has been no objective method for the diagnosis of MPS

  5. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.

    Science.gov (United States)

    Koczkowska, Magdalena; Wierzba, Jolanta; Śmigiel, Robert; Sąsiadek, Maria; Cabała, Magdalena; Ślężak, Ryszard; Iliszko, Mariola; Kardaś, Iwona; Limon, Janusz; Lipska-Ziętkiewicz, Beata S

    2017-02-01

    Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there are some individuals with clinical features resembling the syndrome who are eventually diagnosed with genomic disorders affecting other chromosomal regions. The objective of this study was to evaluate the additive value of high-resolution array-CGH testing in the cohort of 41 patients with clinical features of 22q11.2 deletion syndrome and negative results of standard cytogenetic diagnostic testing (karyotype and FISH for 22q11.2 locus). Array-CGH analysis revealed no aberrations at chromosomes 22 or 10 allegedly related to the syndrome. Five (12.2 %) patients were found to have other genomic imbalances, namely 17q21.31 microdeletion syndrome (MIM#610443), 1p36 deletion syndrome (MIM#607872), NF1 microduplication syndrome (MIM#613675), chromosome 6pter-p24 deletion syndrome (MIM#612582) and a novel interstitial deletion at 3q26.31 of 0.65 Mb encompassing a dosage-dependent gene NAALADL2. Our study demonstrates that the implementation of array-CGH into the panel of classic diagnostic procedures adds significantly to their efficacy. It allows for detection of constitutional genomic imbalances in 12 % of subjects with negative result of karyotype and FISH targeted for 22q11.2 region. Moreover, if used as first-tier genetic test, the method would provide immediate diagnosis in ∼40 % phenotypic 22q11.2 deletion subjects.

  6. Mondini deformity in a case of Turner syndrome. A radiological finding.

    Science.gov (United States)

    Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel

    2012-01-01

    Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. Copyright © 2010 Elsevier España, S.L. All rights reserved.

  7. Hallervorden Spatz syndrome: magnetic resonance findings. Case report; Sindrome de Hallervorden Spatz: achados na ressonancia magnetica. Relato de caso

    Energy Technology Data Exchange (ETDEWEB)

    Farage, Luciano; Castro, Mario Augusto Padula; Macedo, Tulio Augusto Alves [Universidade Federal de Uberlandia, MG (Brazil). Hospital de Clinicas. Setor de Radiologia; Assis, Marcelo Cardoso de [Universidade Federal de Uberlandia, MG (Brazil). Faculdade de Medicina. Dept. de Cirurgia; Souza, Lincoln Pereira de; Freitas, Luiz Oliveira de [Universidade Federal de Uberlandia, MG (Brazil). Dept. de Clinica Medica

    2004-09-01

    Hallervorden-Spatz syndrome is a neuro degenerative disease, autosomic recessive with two clinical features: early and late onset. Psychiatric, pyramidal and extrapyramidal signs are present in the late subtype. We report the case of a 41-old woman with extrapyramidal signs. Magnetic resonance imaging (MRI) showed the eye-of-the-tiger sign in the medial globus pallidus. This is due to a gliosis (increased signal) and accumulation of surrounding iron (decreased signal intensity) in long T R sequences. There is a strong relationship between MRI findings and the gene mutation responsible for this disease. It makes the MRI sensible for diagnosing this syndrome. (author)

  8. [Autism spectrum disorders in adulthood: clinical and neuropsychological findings of Aspergers syndrome diagnosed late in life].

    Science.gov (United States)

    Lehnhardt, F-G; Gawronski, A; Volpert, K; Schilbach, L; Tepest, R; Huff, W; Vogeley, K

    2011-05-01

    High-functioning autism (HFA) and Aspergers syndrome (AS) are autism spectrum disorders (ASD) characterised by disturbances in social interaction, both verbal and non-verbal communication and repetitive and/or restrictive behaviour since early childhood. Symptoms appear generally during early childhood and adolescence. The increasing need to clarify diagnostic queries in advanced age led to the constitution of specialised outpatient clinics for adults involving a growing amount of HFA/AS subjects diagnosed late in life. However, thus far neuropsychological data about this group are scarce. We present a subgroup of 39 patients with HFA/AS (mean age at diagnosis 31.1 ± 8.9 years) who were consecutively diagnosed at the autism outpatient clinic at the Department of Psychiatry at the University Hospital Cologne. Autistic symptoms (autism spectrum quotient; AQ), depressive symptoms (Beck depression inventory; BDI), general intelligence (HAWIE-R), social cognition ("theory of mind", ToM) and executive functioning (COWAT) were systematically studied in comparison to a control group matched for age, education, gender and intelligence (n = 39). HFA/AS subjects presented higher AQ scores (40.4 ± 5.2) as opposed to the healthy controls (13.5 ± 4.8). Neuropsychologically, patients showed deficits in social cognition, executive functions and in subtests of HAWIE-R related to verbal comprehension and perceptual organisation as opposed to the healthy control group. The diagnosis of autistic disorders in adulthood basically relies on the clinical assessment of autistic core symptoms which were corroborated by high AQ values. The self-rating instrument AQ was found to be highly discriminative between the HFA/AS group and the healthy control group. The neuropsychological profile of adult HFA/AS patients diagnosed late in life is compatible with that of previously investigated HFA/AS populations. These findings show that such basic autism-associated deficits persist until

  9. Imaging and clinical findings in large endolymphatic duct and sac syndrome.

    Science.gov (United States)

    Koesling, Sabrina; Rasinski, Christine; Amaya, Beatrice

    2006-01-01

    Large endolymphatic duct and sac syndrome (LEDS) is known as the most common kind of inner ear malformations, which is radiologically detectable. Nevertheless, nowadays many questions are not fully cleared and LEDS is relatively unknown among general radiologists. The aim of this study was to evaluate the incidence of LEDS in the own patient population and to present our experiences regarding imaging findings, clinical presentation and follow up. Based on a complete recording of all patients, sent from ENT department to radiology, we identified all radiological diagnosed cases of inner ear malformations including LEDS and all patients in whom an inner ear malformation was clinically suspected. The retrospective study included clinical records, HR-CT and MRI performed between 1994 and 2002. Among 169 patients (338 ear), 17 of patients (median age: 12 years) and 28 ears, respectively, had enlarged endolymphatic structures. In 10 patients - 6% - (15 ears), no other abnormalities were detected, called isolated LEDS, seven patients showed additional inner ear abnormalities. One patient showed a labyrinthine hemorrhage after sudden hearing loss. Audiometric data revealed sensorineural hearing loss in 22 ears, deafness in 5 ears and normal hearing in 1 case of 28 ears. In 10 (67%) of 15 ears with isolated LEDS, the hearing loss was downward-fluctuating progressive. Twelve patients (eight with isolated LEDS) had partly repeated sudden hearing losses. A trigger for worsening of hearing was found in five patients. A correlation between the severity of morphological changes on imaging and the degree of hearing disturbances could not be detected. Only four young patients underwent a radiological examination within the first or second year after onset of hearing loss. Three patients received a cochlear implant. LEDS might be the cause of progressive hearing loss and repeated acute hearing losses in children and young adults. Imaging plays an important role in making the

  10. Comparison of electrophysiological findings in axonal and demyelinating Guillain-Barre syndrome

    Science.gov (United States)

    Yadegari, Samira; Nafissi, Shahriar; Kazemi, Neda

    2014-01-01

    Background: Incidence and predominant subtype of Guillain-Barre syndrome (GBS) differs geographically. Electrophysiology has an important role in early diagnosis and prediction of prognosis. This study is conducted to determine the frequent subtype of GBS in a large group of patients in Iran and compare nerve conduction studies in axonal and demyelinating forms of GBS. Methods: We retrospectively evaluated the medical records and electrodiagnostic study (EDS) of 121 GBS patients who were managed in our hospital during 11 years. After regarding the exclusion criteria, patients classified as three groups: acute inflammatory demyelinating polyneuropathy (AIDP), acute motor axonal neuropathy (AMAN), and acute motor sensory axonal neuropathy (AMSAN). The most frequent subtype and then electrophysiological characteristic based on the time of EDS and their cerebrospinal fluid (CSF) profile were assessed. Results: Among 70 patients finally included in the study, 67% were men. About 63%, 23%, and 14% had AIDP, AMAN, and AMSAN, respectively. AIDP patients represented a wider range of ages compared with other groups. Higher levels of CSF protein, abnormal late responses and sural sparing were more frequent in AIDP subtype. Five AMSAN patients also revealed sural sparing. Conduction block (CB) was observed in one AMAN patient. Prolonged F-wave latency was observed only in AIDP cases. CB and inexcitable sensory nerves were more frequent after 2 weeks, but reduced F-wave persistency was more prominent in the early phase. Conclusion: AIDP was the most frequent subtype. Although the electrophysiology and CSF are important diagnostic tools, classification should not be made based on a distinct finding. PMID:25422732

  11. Chest roentgenographic findings of thymic size and shape in respiratory distress syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Young Ho; Yoon, Sung Do; Sung, Ki Yeal; Park, Seog Hee; Kim, Jong Woo; Bahk, Yong Whee [Catholic Medical College, Seoul (Korea, Republic of)

    1984-09-15

    Thymic size can be affected by both exogenous and endogenous glucocorticoids. Development of the respiratory distress syndrome (RDS) is influenced by adrenal cortical function. Thus, thymic size in RDS is considered to be enlarged due to decreased adrenal cortical function. To find whether the presence of RDS correlates with the thymus, the size and shape of the thymus were evaluated in the radiographs of premature infants with RDS, without RDS (control prematurity) and normal infants. The subjects were consisted of chest films of Korean premature infants, 120 with RDS, 60 without RDS, and 60 of normal infants taken at the Department of Radiology, Our Lady of Mercy Hospital during the period of 62 months since January 1978. Relative size of the thymus was determine by cardiothymic/thoracic ratio (CT /T ratio). Grading and location of the thymic prominence as well as incidence of the shape were examined. And all the relations among the radiographs of RDS, control prematurity and normal infants were analyzed. The results were as follows: 1. The CT/T ratio of premature infants with RDS was significantly greater than that of control prematurity and normal infants (P< 0.01). 2. The incidence of bilateral thymic prominence was more frequent in premature infant with RDS than in control prematurity and normal infants (P<0.05). 3. The frequency of thymic prominence was greater in the right than left side in all the three groups (P<0.05). 4. As in the shape of the thymus, a rounded type was most frequent, and a triangular type was least frequent in all three groups. 5. Incident of RDS was very low (9.8%) when the CT/T ratio is below 0.3 and it was very high (90.9%) when the CT/T ratio is above 0.49.

  12. Imaging and clinical findings in large endolymphatic duct and sac syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Koesling, Sabrina [University of Halle, Department of Radiology, E-Grube-Street 40, D-06097 Halle (Germany)]. E-mail: sabrina.koesling@medizin.uni-halle.de; Rasinski, Christine [University of Halle, Department of Otorhinolaryngology (Germany); Amaya, Beatrice [University of Halle, Department of Radiology, E-Grube-Street 40, D-06097 Halle (Germany)

    2006-01-15

    Objective: Large endolymphatic duct and sac syndrome (LEDS) is known as the most common kind of inner ear malformations, which is radiologically detectable. Nevertheless, nowadays many questions are not fully cleared and LEDS is relatively unknown among general radiologists. The aim of this study was to evaluate the incidence of LEDS in the own patient population and to present our experiences regarding imaging findings, clinical presentation and follow up. Materials and methods: Based on a complete recording of all patients, sent from ENT department to radiology, we identified all radiological diagnosed cases of inner ear malformations including LEDS and all patients in whom an inner ear malformation was clinically suspected. The retrospective study included clinical records, HR-CT and MRI performed between 1994 and 2002. Results: Among 169 patients (338 ear), 17 of patients (median age: 12 years) and 28 ears, respectively, had enlarged endolymphatic structures. In 10 patients - 6% - (15 ears), no other abnormalities were detected, called isolated LEDS, seven patients showed additional inner ear abnormalities. One patient showed a labyrinthine hemorrhage after sudden hearing loss. Audiometric data revealed sensorineural hearing loss in 22 ears, deafness in 5 ears and normal hearing in 1 case of 28 ears. In 10 (67%) of 15 ears with isolated LEDS, the hearing loss was downward-fluctuating progressive. Twelve patients (eight with isolated LEDS) had partly repeated sudden hearing losses. A trigger for worsening of hearing was found in five patients. A correlation between the severity of morphological changes on imaging and the degree of hearing disturbances could not be detected. Only four young patients underwent a radiological examination within the first or second year after onset of hearing loss. Three patients received a cochlear implant. Conclusions: LEDS might be the cause of progressive hearing loss and repeated acute hearing losses in children and young

  13. Imaging and clinical findings in large endolymphatic duct and sac syndrome

    International Nuclear Information System (INIS)

    Koesling, Sabrina; Rasinski, Christine; Amaya, Beatrice

    2006-01-01

    Objective: Large endolymphatic duct and sac syndrome (LEDS) is known as the most common kind of inner ear malformations, which is radiologically detectable. Nevertheless, nowadays many questions are not fully cleared and LEDS is relatively unknown among general radiologists. The aim of this study was to evaluate the incidence of LEDS in the own patient population and to present our experiences regarding imaging findings, clinical presentation and follow up. Materials and methods: Based on a complete recording of all patients, sent from ENT department to radiology, we identified all radiological diagnosed cases of inner ear malformations including LEDS and all patients in whom an inner ear malformation was clinically suspected. The retrospective study included clinical records, HR-CT and MRI performed between 1994 and 2002. Results: Among 169 patients (338 ear), 17 of patients (median age: 12 years) and 28 ears, respectively, had enlarged endolymphatic structures. In 10 patients - 6% - (15 ears), no other abnormalities were detected, called isolated LEDS, seven patients showed additional inner ear abnormalities. One patient showed a labyrinthine hemorrhage after sudden hearing loss. Audiometric data revealed sensorineural hearing loss in 22 ears, deafness in 5 ears and normal hearing in 1 case of 28 ears. In 10 (67%) of 15 ears with isolated LEDS, the hearing loss was downward-fluctuating progressive. Twelve patients (eight with isolated LEDS) had partly repeated sudden hearing losses. A trigger for worsening of hearing was found in five patients. A correlation between the severity of morphological changes on imaging and the degree of hearing disturbances could not be detected. Only four young patients underwent a radiological examination within the first or second year after onset of hearing loss. Three patients received a cochlear implant. Conclusions: LEDS might be the cause of progressive hearing loss and repeated acute hearing losses in children and young

  14. Therapy service use among individuals with fragile X syndrome: findings from a US parent survey.

    Science.gov (United States)

    Martin, G E; Ausderau, K K; Raspa, M; Bishop, E; Mallya, U; Bailey, D B

    2013-09-01

    Fragile X syndrome (FXS) is known to be associated with a range of developmental challenges, yet the occurrence and intensity of therapy services along with associated factors have not been determined. In a US national survey, caregivers provided information regarding the therapy services received by their sons (n = 1013) and daughters (n = 283) with FXS (from birth to 63 years; mean = 15.6 years, SD = 10.6). Caregivers reported (1) type, (2) amount, (3) location, and (4) overall satisfaction with services. Associations with other child variables and family income were also examined. Key findings included that 72% of males and 47% of females were currently receiving at least one type of therapy service; the most common services for both males and females were speech-language therapy (ST) and occupational therapy (OT). Overall, males were more likely to receive therapy services as well as a greater number of services than females. Autism status was significantly associated with both males and females receiving ST and males receiving OT and behaviour management therapy. Therapies were provided in a variety of locations, and parents were generally satisfied with the amount and quality of therapy services. Age-related declines were evident in the use of services for both males and females, with very few individuals receiving any therapy services after 20 years of age. This study provides a baseline description of the current state of therapy services for children with FXS, laying a foundation for future research and recommendations for service provision and policy. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID.

  15. Preliminary clinical findings on NEUMUNE as a potential treatment for acute radiation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Stickney, Dwight R; Groothuis, Jessie R; Ahlem, Clarence; Kennedy, Mike; Miller, Barry S; Onizuka-Handa, Nanette; Schlangen, Karen M; Destiche, Daniel; Reading, Chris; Garsd, Armando; Frincke, James M [Harbor Biosciences, 9171 Towne Centre Drive, Suite 180, San Diego, CA 92122 (United States)

    2010-12-01

    5-androstenediol (5-AED) has been advanced as a possible countermeasure for treating the haematological component of acute radiation syndrome (ARS). It has been used in animal models to stimulate both innate and adaptive immunity and treat infection and radiation-induced immune suppression. We here report on the safety, tolerability and haematologic activity of 5-AED in four double-blinded, randomized, placebo-controlled studies on healthy adults including elderly subjects. A 5-AED injectable suspension formulation (NEUMUNE) or placebo was administered intramuscularly as either a single injection, or once daily for five consecutive days at doses of 50, 100, 200 or 400 mg. Subjects (n = 129) were randomized to receive NEUMUNE (n = 95) or the placebo (n = 34). NEUMUNE was generally well-tolerated; the most frequent adverse events were local injection site reactions (n = 104, 81%) that were transient, dose-volume dependent, mild to moderate in severity, and that resolved over the course of the study. Blood chemistries revealed a transient increase (up to 28%) in creatine phosphokinase and C-reactive protein levels consistent with intramuscular injection and injection site irritation. The blood concentration profile of 5-AED is consistent with a depot formulation that increases in disproportionate increments following each dose. NEUMUNE significantly increased circulating neutrophils (p < 0.001) and platelets (p < 0.001) in the peripheral blood of adult and elderly subjects. A dose-response relationship was identified. Findings suggest that parenteral administration of 5-AED in aqueous suspension may be a safe and effective means to stimulate innate immunity and alleviate neutropenia and thrombocytopenia associated with ARS.

  16. Fetal macrosomia as an important indicator of fetal malformation syndrome: ultrasonic findings of two cases

    NARCIS (Netherlands)

    EA Pley; PA de Jong; MD E.J.M. Wouters

    1989-01-01

    Two extraordinary cases of fetal macrosomia are presented. It is discussed that extreme fetal growth should raise the suspicion of a malformation syndrome and deserves thorough antenatal ultrasonographic examination.

  17. Cracked tooth syndrome: diagnosis, treatment and correlation between symptoms and post-extraction findings.

    Science.gov (United States)

    Ehrmann, E H; Tyas, M J

    1990-04-01

    Although the cracked tooth syndrome has been known for over twenty years, it frequently remains undiagnosed because the condition is not sufficiently well recognized. Cracked tooth syndrome has been defined as an incomplete fracture of the dentine in a vital posterior tooth, and must be distinguished from a split tooth. A diagnosis can often be made by means of the history, and must be confirmed by reproducing the patient's symptoms. The ideal treatment consists of applying a stainless steel band to the tooth, with cessation of symptoms confirming the diagnosis, followed by a full coverage restoration. Case histories illustrating the syndrome are presented, and a further case is reported where a diagnosis of cracked tooth syndrome was made, and the tooth extracted, sectioned and stained to show the nature of the cracks and their relationship to the pulp.

  18. Hemolysis, hemorrhage, headache, and hidden abortion: imaging findings in antiphospholipid syndrome

    International Nuclear Information System (INIS)

    Mahnken, A.H.; Brandenburg, V.M.; Haage, P.; Guenther, R.W.; Frank, R.D.

    2003-01-01

    Antiphospholipid antibodies are associated with arterial and venous thromboses, recurrent pregnancy loss, and organ infarction. Any vascular region can be affected. We present a 20-year-old woman suffering from secondary antiphospholipid syndrome with a unique combination of multifocal venous thromboses, pulmonary embolism, spontaneous abortion, and splenic infarction. Diversity of clinical symptoms and diagnostic imaging modalities are discussed with emphasis on cross-sectional imaging. The syndrome should be suspected in patients with thromboses and organ infarctions of otherwise undetermined etiology. (orig.)

  19. Hemolysis, hemorrhage, headache, and hidden abortion: imaging findings in antiphospholipid syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mahnken, A.H.; Brandenburg, V.M.; Haage, P.; Guenther, R.W. [Dept. of Diagnostic Radiology, Univ. Hospital, Univ. of Technology, Aachen (Germany); Frank, R.D. [Dept. of Nephrology and Immunology, Univ. of Technology, Aachen (Germany)

    2003-12-01

    Antiphospholipid antibodies are associated with arterial and venous thromboses, recurrent pregnancy loss, and organ infarction. Any vascular region can be affected. We present a 20-year-old woman suffering from secondary antiphospholipid syndrome with a unique combination of multifocal venous thromboses, pulmonary embolism, spontaneous abortion, and splenic infarction. Diversity of clinical symptoms and diagnostic imaging modalities are discussed with emphasis on cross-sectional imaging. The syndrome should be suspected in patients with thromboses and organ infarctions of otherwise undetermined etiology. (orig.)

  20. Neuroimaging findings (ultrasonography, CT, MRI) in 3 infants with congenital rubella syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yamashita, Y.; Matsuishi, T.; Murakami, Y. (Kurume Univ. (Japan). Dept. of Pediatrics and Child Health); Shoji, H. (Kurume Univ. (Japan). Dept. of Otolaryngology); Hashimoto, T. (St. Mary' s Hospital, Kurume (Japan). Dept. of Neonatology); Utsunomiya, H. (St. Mary' s Hospital, Kurume (Japan). Dept. of Neuroradiology); Araki, H. (Iizuka Hospital (Japan). Dept. of Pediatrics)

    1991-12-01

    Neuroimaging observations of three infants with congenital rubella syndrome are reported. We have observed congenital rubella syndrome lesions in the subependymal area, the basal ganglia and the deep white matter. Cranial ultrasonography defines subependymal cysts, calcification and possible vascular changes in the basal ganglia while MRI is the most sensitive to minor atrophic changes and white matter lesions. Although CT defines calcification, it is less sensitive than MRI to white matter changes and does not demonstrate subependymal cysts. (orig.).

  1. Neuroimaging findings (ultrasonography, CT, MRI) in 3 infants with congenital rubella syndrome

    International Nuclear Information System (INIS)

    Yamashita, Y.; Matsuishi, T.; Murakami, Y.; Shoji, H.; Hashimoto, T.; Utsunomiya, H.; Araki, H.

    1991-01-01

    Neuroimaging observations of three infants with congenital rubella syndrome are reported. We have observed congenital rubella syndrome lesions in the subependymal area, the basal ganglia and the deep white matter. Cranial ultrasonography defines subependymal cysts, calcification and possible vascular changes in the basal ganglia while MRI is the most sensitive to minor atrophic changes and white matter lesions. Although CT defines calcification, it is less sensitive than MRI to white matter changes and does not demonstrate subependymal cysts. (orig.)

  2. Kaposi sarcoma related to acquired immunodeficiency syndrome: hepatic findings on computed tomography and magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Costa, Daniel Nobrega da; Viana, Publio Cesar Cavalcante; Maciel, Rosangela Pereira; Rocha, Manoel de Souza; Gebrim, Eloisa Maria Mello Santiago [Universidade de Sao Paulo (USP), SP (Brazil). Hospital das Clinicas. Inst. de Radiologia]. E-mail: dnobrega@gmail.com

    2008-03-15

    Kaposi sarcoma is a neoplasm associated with immunosuppressive conditions, and involving blood and lymphatic vessels. It is the most frequent intrahepatic neoplasm in patients with acquired immunodeficiency syndrome. Computed tomography and magnetic resonance imaging demonstrate multiple small nodules, prominence and contrast-enhancement of periportal branches due to the presence of the neoplastic tissue. The authors report a case of a 47-year-old male patient with acquired immunodeficiency syndrome presenting disseminated Kaposi sarcoma. (author)

  3. Wallenberg's lateral medullary syndrome: diffusion-weighted imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Kitis, O.; Calli, C.; Yunten, N.; Kocaman, A.; Sirin, H. [Ege Univ., Izmir (Turkey). Dept. of Radiology

    2004-02-01

    To investigate the efficacy of diffusion-weighted imaging in patients with Wallenberg's lateral medullary syndrome. Thirteen patients with Wallenberg's lateral medullary syndrome were examined with conventional and echoplanar diffusion-weighted magnetic resonance (MR) imaging in a 1.5 T magnetic resonance unit. MR examinations were obtained in the acute or subacute stage of clinical syndrome, and diffusion-weighted imaging (DWI) was considered to be positive for infarction when an increase in signal was seen on b = 1000 s/mm2 images in the posterolateral medullary localization. DWIs were positive in 12 patients in the acute or subacute stages of this clinical syndrome. A false-negative result was obtained in only one patient examined within the first day, 10 h after onset of the symptoms. In the visual evaluation of the DWI, the contrast between normal and infarcted brainstem area was better in the high b-value images than in the apparent diffusion coefficient map images. DWI is a valuable technique for examining patients presenting with the signs and symptoms of Wallenberg's syndrome and high b-value images can provide complementary data to T2-weighted images. However, because most of our case group were in either the acute or subacute stage, true sensitivity of the method in the hyperacute stage of the syndrome remains unclear.

  4. Clinical and oral findings in an Afro-Brazilian family with Gorlin-Goltz syndrome: case series and literature review.

    Science.gov (United States)

    da Silva Pierro, Viviane Santos; Marins, Marcello Roter; Borges de Oliveira, Renata Cabral; Cortezzi, Wladimir; Janini, Maria Elisa; Maia, Lucianne Cople

    2015-01-01

    Gorlin-Goltz syndrome (GGS) seems to be unusual in black persons. The authors present an Afro-Brazilian family case report of GGS. The main complaint of the index case was a painless swelling of the left mandible, which was diagnosed as an odontogenic keratocyst. Further classical features of the Syndrome were present in this patient. Other two family members were diagnosed as cases of GGS and one of them presented 11 clinical findings characteristic of the syndrome. From the three cases reported, two of them presented five major diagnostic criteria for the GGS, and the diagnosis was only made because of an oral complaint. This case series emphasizes the importance of carefully examining the patient and close relatives for signs of GGS, even if they belong to an ethnic group in which this diagnosis is unusual. © 2014 Special Care Dentistry Association and Wiley Periodicals, Inc.

  5. Informative value of radiological findings recorded from cervical spine with reference to clinical symptoms in patients with cervical syndrome

    International Nuclear Information System (INIS)

    Loreck, D.; Kuehn, A.; Conradi, E.

    1991-01-01

    Static X-rays recorded at two planes from the cervical spine of 286 patients were evaluated and were compared to findings obtained from 50 probands without complaints. The patients complained about problems relating to vertebrogenic pain syndrome of the cervical spine, including vertigo of cervical origin. They were grouped by four sets of clinical symptoms (cephalgia, vertigo, locally delimited complaints and cervicobrachial syndrome). No statistically significant differences were found to exist among the groups of probands with regard to radiographic morphology, static condition nor impairment of relations. Particular reference is made in this paper to reversible function disorders and their major role among the multifactorial causes of the cervical syndrome. Indications are derived from these observations for primary X-ray examination of the cervical spine. (orig.) [de

  6. Clinical characteristics and prognosis of incidentally detected lung cancers.

    Science.gov (United States)

    Quadrelli, S; Lyons, G; Colt, H; Chimondeguy, D; Buero, A

    2015-01-01

    To evaluate clinical characteristics and outcomes in incidentally detected lung cancer and in symptomatic lung cancer. We designed a retrospective study including all patients undergoing pulmonary resection with a curative intention for NSCLC. They were classified into two groups according to the presence or absence of cancer-related symptoms at diagnosis in asymptomatic (ASX)—incidental diagnosis—or symptomatic. Of the 593 patients, 320 (53.9%) were ASX. In 71.8% of these, diagnosis was made by chest X-ray. Patients in the ASX group were older (P = 0.007), had a higher prevalence of previous malignancy (P = 0.002), presented as a solitary nodule more frequently (P ASX (P = 0.001). Median survival times in pathological stages IIIB-IV were not significantly different. Incidental finding of NSCLC is not uncommon even among nonsmokers. It occurred frequently in smokers and in those with history of previous malignancy. Mortality of incidental diagnosis group was lower, but the better survival was related to the greater number of patients with earlier-stage disease.

  7. 78 FR 33357 - Takes of Marine Mammals Incidental to Specified Activities; Taking Marine Mammals Incidental to...

    Science.gov (United States)

    2013-06-04

    ... confidence in these values is unknown. Table 3--Marine Mammal Density Estimates Density Species (animals/km\\2... unintentional taking of marine animals occurring incidental to the shock testing which involved large explosives... Marine Mammals Incidental to Specified Activities; Taking Marine Mammals Incidental to Conducting...

  8. Experts' opinions on the benefit of an incidental prenatal diagnosis of sex chromosomal aneuploidy: a qualitative interview survey

    NARCIS (Netherlands)

    Pieters, J.J.P.M.; Verhaak, C.M.; Braat, D.D.M.; van Leeuwen, E.; Smits, A.P.T.

    2012-01-01

    OBJECTIVE: Incidental findings in prenatal diagnostic testing may or may not have clear prognostic significance for the phenotype. We studied experts' opinions of the benefit and disadvantage of an incidental prenatal diagnosis of a sex chromosomal aneuploidy (SCA). METHODS: We interviewed 16

  9. Clinical and radiological findings in a case of non-syndromic oligodontia

    International Nuclear Information System (INIS)

    Jimenez Carrillo, Francisco J.

    2002-01-01

    A case of congenital absence of eleven dental pieces without association to syndromes is presented. An integral clinical examination of the patient's dental pieces has determined a case of oligodontia. Congenital absence of all permanent teeth described in the clinical examination are presented by orthopantomography radiography. Impressions with irreversible hydrocolloid are realized to complete the diagnostic. The case described of oligodontia has developed without presenting relation to some syndrome as Down syndrome or ectodermal dysplasia. Genes have played a very important role in the etiology of dental anomalies, according to the existing evidence. Mutation has been identified as the cause of dental defects in some of the genes in humans. The maxillary teeth developed in the marginal areas of the dental lamina have pretended to be the dental pieces more susceptible to be without form [es

  10. Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome.

    Science.gov (United States)

    Marchisio, Paola; Selicorni, Angelo; Bianchini, Sonia; Milani, Donatella; Baggi, Elena; Cerutti, Marta; Larizza, Lidia; Principi, Nicola; Esposito, Susanna

    2014-07-01

    Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder in which hearing loss (HL) has been reported. However, no data are available concerning the association between audiological findings, clinical severity score and genotype. The study involved 44 pediatric patients aged 1-18 years with a confirmed diagnosis of CdLS, all of whom underwent a full otolaryngological and audiological examination. The presence of NIPBL and SMC1 mutations was also evaluated. According to the severity of clinical phenotypes, 12 (27.3%) children were mild, 15 (34.1%) were moderate and 17 (38.6%) were severe. Thirty-eight children (86%) had OME. Eight children had normal hearing, including one (12.5%) with a severe phenotype. Bilateral sensorineural hearing loss (SNHL) was diagnosed in 10 children (22.7%): the degree of HL was severe in 8 (80%), all with a severe phenotype. Conductive hearing loss (CHL) was present in 26 patients (59.1%), of whom 8 (30.8%) had a severe phenotype. A severe phenotype was more prevalent among the patients with moderate to severe HL (10/16, 62.5%) than among those with slight/mild HL or normal hearing (7/28, 25.0% p=0.013). NIPBL mutations were detected in 22 patients (50%): 13 (59.1%) with truncating mutations, four (18.2%) with missense mutations, and five (22.7%) with splicing mutations. The frequency of NIPBL truncating mutations was similar in the children with SNHL and those with CHL, whereas this kind of mutation was not found in children with normal hearing. Together with SNHL, CHL is an important cause of HL in children with CdLS, and can be associated with a severe phenotype. Moreover, CHL can be associated with NIPBL mutations, particularly truncating mutations. These results highlight the importance of the early identification of audiological problems in children with CdLS and their precise genetic characterization. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  11. MRI findings in an atypical case of Kearns-Sayre syndrome: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Sacher, M.; Fatterpekar, G.M.; Edelstein, S.; Naidich, T.P. [Department of Radiology, Mount Sinai Medical Center, New York, NY (United States); Sansaricq, C. [Department of Medical Genetics, Mount Sinai Medical Center, New York, NY (United States)

    2005-04-01

    MR imaging features of mitochondrial encephalomyopathies, lactic acidosis, and stroke-like episodes, Kearns-Sayre/Pearson syndrome have been described in the literature. We describe extensive white matter changes with abnormal signal intensity lesions involving the deep gray nuclei and myelinated white matter tracts in an 18-year-old female with a large-scale 7.4 kb mitochondrial DNA deletion and a atypical presentation of Kearns-Sayre syndrome. Restricted diffusion due to status spongiosus at the involved sites is also discussed.

  12. MRI findings in an atypical case of Kearns-Sayre syndrome: a case report.

    Science.gov (United States)

    Sacher, Michael; Fatterpekar, Girish M; Edelstein, Simon; Sansaricq, Claude; Naidich, Thomas P

    2005-04-01

    MR imaging features of mitochondrial encephalomyopathies, lactic acidosis, and stroke-like episodes, Kearns-Sayre/Pearson syndrome have been described in the literature. We describe extensive white matter changes with abnormal signal intensity lesions involving the deep gray nuclei and myelinated white matter tracts in an 18-year-old female with a large-scale 7.4 kb mitochondrial DNA deletion and a atypical presentation of Kearns-Sayre syndrome. Restricted diffusion due to status spongiosus at the involved sites is also discussed.

  13. Functional hemispherotomy in Rasmussen syndrome in the absence of classic MRI findings

    Directory of Open Access Journals (Sweden)

    Yasunori Nagahama

    2017-01-01

    Full Text Available A 7-year-old previously healthy girl presented with a left-sided focal seizure without impaired consciousness and subsequently developed epilepsia partialis continua. Initial MRI was normal, and the subsequent images only showed a focal T2/FLAIR hyperintense area without cortical atrophy. She was diagnosed with Rasmussen syndrome by pathology and promptly treated with functional hemispherotomy. Rasmussen syndrome is a rare progressive neurological disorder, the only definitive cure for which is hemispheric disconnection. The disease presents a management dilemma, especially early in disease course without characteristic neuroimaging features. A high index of suspicion, multidisciplinary approach, and clear timely communication with the family are critical.

  14. Finding a Face in the Crowd: Testing the Anger Superiority Effect in Asperger Syndrome

    Science.gov (United States)

    Ashwin, Chris; Wheelwright, Sally; Baron-Cohen, Simon

    2006-01-01

    Social threat captures attention and is processed rapidly and efficiently, with many lines of research showing involvement of the amygdala. Visual search paradigms looking at social threat have shown angry faces "pop-out" in a crowd, compared to happy faces. Autism and Asperger Syndrome (AS) are neurodevelopmental conditions…

  15. Histological findings in unclassified sudden infant death, including sudden infant death syndrome

    NARCIS (Netherlands)

    G. Liebrechts-Akkerman (Germaine); J.V.M.G. Bovée (Judith); L.C.D. Wijnaendts (Liliane); A. Maes (Ann); P.G.J. Nikkels (Peter); R.R. de Krijger (Ronald)

    2013-01-01

    textabstractOur objective was to study histological variations and abnormalities in unclassified sudden infant death (USID), including sudden infant death syndrome (SIDS), in The Netherlands. Two hundred Dutch USID cases between 1984 and 2005 were identified. The histology slides and autopsy reports

  16. Mothers' Use of Substantive Deixis and Nouns with Their Children with Down Syndrome: Some Discrepant Findings.

    Science.gov (United States)

    Cardoso-Martins, Claudia; Mervis, Carolyn B.

    1990-01-01

    The speech of mothers of six children with Down syndrome was compared to that of mothers of nonretarded children, when subjects were aged 17-38 months. No significant differences were observed between the two groups for either proportion of substantive deixis or proportion of nouns (as opposed to pronouns). (Author/JDD)

  17. Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis

    DEFF Research Database (Denmark)

    Mertz, Line Granild Bie; Christensen, Rikke Nøhr; Vogel, Ida

    2013-01-01

    Angelman syndrome (AS) is a neurogenetic disorder caused by loss of expression of the maternal imprinted gene UBE3A on chromosome 15q11.2-q13. Clinical features of AS include severe intellectual disability, a happy disposition, ataxia, mandibular prognatism, and epilepsy. Our objectives were...

  18. A rare combination of findings revealed by MR imaging in the Marfan syndrome

    International Nuclear Information System (INIS)

    Kleimaker, G.; Ehrenheim C.; Rittierodt, M.; Jaster, S.; Hundeshagen, H.

    1996-01-01

    We report on the case of a 16-year-old boy known to have suffered form the Marfan syndrome for the past ten years. Even though he could not be regarded as a text-book perfect example, he showed some rare manifestations of the disease. Particular attention is given to the diagnostic possibilities offered by MR imaging. (orig./MG) [de

  19. Cerebrospinal fluid findings in Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathies

    DEFF Research Database (Denmark)

    Illes, Zsolt; Blaabjerg, Morten

    2017-01-01

    The classic immunologic alteration of the cerebrospinal fluid (CSF) in Guillain-Barré syndrome (GBS), albuminocytologic dissociation, has been known since the original paper by Guillain, Barré, and Strohl. Albuminocytologic dissociation has been also described in other forms of the GBS spectrum...

  20. Osteopathia striata: A characteristic X-ray finding in focal dermal hypoplasia (Goltz-Gorlin syndrome)

    International Nuclear Information System (INIS)

    Barthels, W.; Boepple, D.; Petzel, H.

    1982-01-01

    Two cases of the very rare Goltz-Gorlin syndrome are presented. The relationship of osteopathia striata and focal dermal hypoplasia is discussed, and it is concluded that the osteopathia striata represents the characteristic picture of this ectopic mesodermal abnormality. (orig.)

  1. Articulation Rate and Vowel Space Characteristics of Young Males with Fragile X Syndrome: Preliminary Acoustic Findings

    Science.gov (United States)

    Zajac, David J.; Roberts, Joanne E.; Hennon, Elizabeth A.; Harris, Adrianne A.; Barnes, Elizabeth F.; Misenheimer, Jan

    2006-01-01

    Purpose: Increased speaking rate is a commonly reported perceptual characteristic among males with fragile X syndrome (FXS). The objective of this preliminary study was to determine articulation rate--one component of perceived speaking rate--and vowel space characteristics of young males with FXS. Method: Young males with FXS (n = 38), …

  2. Oral and extraoral manifestationse of sturge-Weber syndrome: A rare finding

    Directory of Open Access Journals (Sweden)

    Amitandra K Tripathi

    2016-01-01

    Full Text Available Sturge-Weber syndrome (SWS is a rare congenital developmental disorder characterized by unilateral cutaneous vascular malformation (nevus flammeus or port-wine stains in association with ipsilateral leptomeningeal angiomatosis and glaucoma. This article presents a case of SWS associated with gingival hyperplasia and pyogenic granuloma.

  3. Oral and extraoral manifestationse of sturge-Weber syndrome: A rare finding

    OpenAIRE

    Amitandra K Tripathi; Mohammad Arif Khan; Krishna Deo; Ranjan Mani Tripathi

    2016-01-01

    Sturge-Weber syndrome (SWS) is a rare congenital developmental disorder characterized by unilateral cutaneous vascular malformation (nevus flammeus or port-wine stains) in association with ipsilateral leptomeningeal angiomatosis and glaucoma. This article presents a case of SWS associated with gingival hyperplasia and pyogenic granuloma.

  4. Persistent Mullerian Duct Syndrome presenting as irreducible inguinal hernia – A surprise surgical finding!

    OpenAIRE

    Sekhon, V.; Luthra, M.; Jevalikar, G.

    2017-01-01

    Persistent Mullerian Duct Syndrome (PMDS) is diagnosed as a discrepancy between masculine external genitalia and female internal genitalia during surgery for cryptorchidism or inguinal hernia. Approximately 200 cases have been reported in the literature so far, most of whom are adults. We discuss the management in an infant presenting with irreducible inguinal hernia with contralateral undescended testis.

  5. Leptomeningeal neurons are a common finding in infants and are increased in sudden infant death syndrome

    NARCIS (Netherlands)

    Rickert, Christian H.; Gross, Oliver; Nolte, Kay W.; Vennemann, Mechtild; Bajanowski, Thomas; Brinkmann, Bernd

    Developmental abnormalities of the brain, in particular, the brainstem potentially affecting centers for breathing, circulation and sleep regulation, are thought to be involved in the etiology of sudden infant death syndrome (SIDS). In order to investigate whether leptomeningeal neurons could serve

  6. MRI findings in people with epilepsy and nodding syndrome in an ...

    African Journals Online (AJOL)

    Background: Onchocerciasis has been implicated in the pathogenesis of epilepsy. The debate on a potential causal relationship between Onchocerca volvulus and epilepsy has taken a new direction in the light of the most recent epidemic of nodding syndrome. Objective: To document MRI changes in people with different ...

  7. Natural evolution of fundus autofluorescence findings in multiple evanescent white dot syndrome: a long-term follow-up.

    Science.gov (United States)

    Dell'Omo, Roberto; Mantovani, Alessandro; Wong, Roger; Konstantopoulou, Kalliroi; Kulwant, Sehmi; Pavesio, Carlos E

    2010-10-01

    The purpose of the study was to investigate the natural evolution of fundus autofluorescence (FAF) findings in eyes with multiple evanescent white dot syndrome. This was a retrospective, observational case series of nine eyes of eight consecutive patients with multiple evanescent white dot syndrome who underwent color fundus photographs, fluorescein and indocyanine green angiography, and FAF photography in two referral practices. The mean follow-up was 8.6 months (range, 3-14 months). In the acute/ subacute phase, FAF showed 1) hypoautofluorescent areas, ≤50 μm in size, mostly concentrated around the optic disk and posterior pole; and 2) areas of increased autofluorescence usually found in correspondence to the white dots seen ophthalmoscopically. During the follow-up period, some of the hypoautofluorescent areas faded away, others persisted; the areas originally showing increased autofluorescence variably tended to: 1) become smaller and more demarcated; 2) retract centripetally becoming small hyper-autofluorescent areas surrounded by an hypoautofluorescent halo; 3) turn into areas of decreased autofluorescence; or 4) disappear without becoming hypofluorescent. Multiple evanescent white dot syndrome represents a unique model to study the natural evolution of FAF findings in chorioretinal affections, from the acute phase to resolution; FAF findings, evaluated along with fluorescein and indocyanine green angiography features, can expand our understanding about retinal pigment epithelium and retinal involvement in this rare chorioretinal disorder.

  8. Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging.

    Science.gov (United States)

    Shields, Carol L; Nickerson, Stephanie J; Al-Dahmash, Saad; Shields, Jerry A

    2013-09-01

    Waardenburg syndrome typically manifests with congenital iris pigmentary abnormalities, but careful inspection can reveal additional posterior uveal pigmentary abnormalities. To demonstrate iris and choroidal hypopigmentation in patients with Waardenburg syndrome. Retrospective review of 7 patients referred for evaluation of presumed ocular melanocytosis. To describe the clinical and imaging features of the anterior and posterior uvea. In all patients, the diagnosis of Waardenburg syndrome was established. The nonocular features included white forelock in 4 of 7 (57%), tubular nose in 5 of 6 (83%), and small nasal alae in 5 of 6 (83%) patients. In 2 patients, a hearing deficit was documented on audiology testing. Family history of Waardenburg syndrome was elicited in 5 of 7 (71%) patients. Ocular features (7 patients) included telecanthus in 5 (71%), synophrys in 2 (29%), iris hypopigmentation in 5 (71%), and choroidal hypopigmentation in 5 (71%) patients. No patient had muscle contractures or Hirschsprung disease. Visual acuity was 20/20 to 20/50 in all patients. Iris hypopigmentation in 8 eyes was sector in 6 (75%) and diffuse (complete) in 2 (25%). Choroidal hypopigmentation in 9 eyes (100%) showed a sector pattern in 6 (67%) and a diffuse pattern in 3 (33%). Anterior segment optical coherence tomography revealed the hypopigmented iris to be thinner and with shallower crypts than the normal iris. Posterior segment optical coherence tomography showed a normal retina in all patients, but the subfoveal choroid in the hypopigmented region was slightly thinner (mean, 197 μm) compared with the opposite normal choroid (243 μm). Fundus autofluorescence demonstrated mild hyperautofluorescence (scleral unmasking) in hypopigmented choroid and no lipofuscin abnormality. Waardenburg syndrome manifests hypopigmentation of the iris and choroid with imaging features showing a slight reduction in the thickness of the affected tissue.

  9. Otologic and audiologic findings in 22q11.2 deletion syndrome.

    Science.gov (United States)

    Verheij, E; Kist, A L; Mink van der Molen, A B; Stegeman, I; van Zanten, G A; Grolman, W; Thomeer, H G X M

    2017-02-01

    Hearing loss is frequently present in the 22q11.2 deletion syndrome. Our aim was to describe the audiologic and otologic features of patients with 22q11.2 deletion syndrome. We conducted a retrospective cohort study in a single tertiary referral center. We reviewed medical files of all patients with 22q11.2 deletion syndrome who visited an otolaryngologist, plastic surgeon or speech therapist, for audiologic or otologic features. Hearing loss was defined as a pure tone average (of 0.5, 1, 2, and 4 kHz) of >20 decibel hearing level. Audiograms were available for 102 of 199 included patients, out of which 163 ears were measured in the required frquencies (0.5-4 kHz). Median age at time of most recent audiogram was 7 years (range 3-29 years). In 62 out of 163 ears (38%), hearing loss was present. Most ears had conductive hearing loss (n = 58) and 4 ears had mixed hearing loss. The severity of hearing loss was most frequently mild (pure tone average of ≤40 decibel hearing level). In 22.5% of ears, otitis media with effusion was observed at time of most recent audiogram. Age was not related to mean air conduction hearing thresholds or to otitis media with effusion (p = 0.43 and p = 0.11, respectively). In conclusion, hearing loss and otitis media are frequently present in patients with 22q11.2 deletion syndrome. Moreover, our results suggest that children with 22q11.2 deletion syndrome remain susceptible for otitis media as they age.

  10. [Late diagnosis of Morquio syndrome. Clinical histopathological findings in a rare mucopolysaccharidosis].

    Science.gov (United States)

    Gösele, S; Dithmar, S; Holz, F G; Völcker, H E

    2000-08-01

    The Morquio syndrome is a rare autosomal-recessive mucopolysaccharidosis. The Morquio syndrome is characterized by a reduced activity of N-acetylgalactosamine-6-sulfate-sulfatase (type A), or beta-galactosidase (type B). This deficiency leads to a lysosomal storage disease with accumulation of keratan sulfate und chondroitin-6-sulfate in connective tissue, skeletal system und teeth. Consequently, abnormalities of the skeletal system, aortic valvular disease and dental abnormalities occur. Ophthalmologically, diffuse corneal opacification and alterations of the trabecular meshwork--occasionally leading to glaucoma--can be found. A 44-year-old woman asked for perforating corneal transplantation because of corneal clouding on both eyes. Besides, she suffered from dwarfism of unclear reason. The diffuse corneal clouding and the dwarfism suggested a systemic-metabolic disease. Thus, further radiologic and medical investigation was started. Radiologically, a kyphoscoliosis, a pectus carinatum, a luxation of both hips, and a gonarthrosis were recognized. Fibroblast culture of a skin biopsy showed reduced activity of N-acetyl-galactosamine-6-sulfate-sulfatase. This was the proof of Morquio syndrome type A. The explanted corneal button showed granules of acid mucopolysaccharides. Those were in the epithelial and endothelial cells and in the corneal stroma. To our knowledge, a Morquio syndrome has never been diagnosed with an adult and only after the ophthalmologist gave a hint. This can only be explained by the comparative mild expression of the disease in this patient. Diagnosis of Morquio syndrome is important because the frequent odontoid hypoplasia can lead to a deadly atlanto-axial instability, if not treated.

  11. Migrating transient bone marrow edema syndrome of the knee: MRI findings in a new case

    Energy Technology Data Exchange (ETDEWEB)

    Gaeta, Michele; Mazziotti, Silvio; Minutoli, Fabio; Vinci, Sergio; Blandino, Alfredo [Institute of Radiological Sciences, Policlinico ' ' G. Martino' ' , University of Messina, Via Consolare Valeria, Gazzi, 98100 Messina (Italy)

    2002-07-01

    We report a case of transient bone marrow edema syndrome migrating within two different compartments of the same knee. This unusual pattern of migration of the marrow edema, which has been previously described only in three cases of transient osteoporosis, may raise the suspicion of an aggressive disease. Radiologists should be aware of this phenomenon in order to avoid an aggressive management of this self-limiting disease. (orig.)

  12. MR findings of Mayer-Rokiansky-Kuster-Hause syndrome: two cases report

    International Nuclear Information System (INIS)

    Kim, Tae Hoon

    1997-01-01

    Magnetic resonance imaging (MRI) was used to study Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in two 21-year-old women. In one ase MRI revealed that fluid filled an area of the uterus measuring about 4x4cm, but that the ovaeies were normal; in the other case, a rudimentary uterus and normal ovaries were seen. MRI is useful both in the planning of surgical management and in evaluating the details of pelvic anatomy and uterine morphologic characteristics.=20

  13. The characteristics of syndrome X based on 201Tl-SPECT, 18 FDG-PET and histopathologic findings

    International Nuclear Information System (INIS)

    Satake, Osamichi

    1999-01-01

    Syndrome X is a microvascular disease. However, the relationship between microvascular ischemia and histopathological findings remains unknown. The present study was performed to evaluate the myocardial perfusion and metabolism of patients with Syndrome X using 201 Tl-SPECT and 18 FDG-PET, and to clarify the morphological characteristics with a ventricular myocardial biopsy. We examined 24 patients with Syndrome X and 5 patients with myocarditis as a control group. In the study using 201 Tl-SPECT and 18 FDG-PET, we evaluated the presence or absence of myocardial ischemia. We calculated the Standardized Uptake Value (SUV) (%dose/ml) of 18 FDG, and analyzed quantitatively the degree of ischemia. For histopathologic study on coronary microcirculation, we performed a right ventricular myocardial biopsy. The biopsies were examined light and electron microscopically. The semithin sections, stained with toluidine blue, were projected onto a screen. Microvessels were counted and the ratio of microvascular luminal narrowing and the number of microvessels per unit area were determined. The study using 201 Tl-SPECT and 18 FDG-PET showed that hypoperfusion of 201 Tl was found in 17 of 24 (71%) patients during 201 Tl-loaded myocardial scanning together with redistribution of 201 Tl at the same regions; 18 FDG-uptake were found in all 24 patients during 18 FDG-PET performed under resting and fasting conditions; the SUV of 18 FDG in the Syndrome X group (0.025±0.039 %dose/ml) was significantly different from that of the control group (0.003±0.002 %dose/ml) (p<0.01). Histopathological observations under the both light and electron microscope showed that an increment in number of the endothelial cells with swelling, a marked luminal narrowing due to the hypertrophy of the arteriolar media and the capillary walls, and a compression of the capillaries were shown in all the patients; the ratio of luminal narrowing of microvessels in the Syndrome X group was significantly higher than

  14. Incidental Learning of Melodic Structure of North Indian Music.

    Science.gov (United States)

    Rohrmeier, Martin; Widdess, Richard

    2017-07-01

    Musical knowledge is largely implicit. It is acquired without awareness of its complex rules, through interaction with a large number of samples during musical enculturation. Whereas several studies explored implicit learning of mostly abstract and less ecologically valid features of Western music, very little work has been done with respect to ecologically valid stimuli as well as non-Western music. The present study investigated implicit learning of modal melodic features in North Indian classical music in a realistic and ecologically valid way. It employed a cross-grammar design, using melodic materials from two modes (rāgas) that use the same scale. Findings indicated that Western participants unfamiliar with Indian music incidentally learned to identify distinctive features of each mode. Confidence ratings suggest that participants' performance was consistently correlated with confidence, indicating that they became aware of whether they were right in their responses; that is, they possessed explicit judgment knowledge. Altogether our findings show incidental learning in a realistic ecologically valid context during only a very short exposure, they provide evidence that incidental learning constitutes a powerful mechanism that plays a fundamental role in musical acquisition. Copyright © 2016 Cognitive Science Society, Inc.

  15. Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.

    Science.gov (United States)

    Chang, Ta C; Bauer, Mislen; Puerta, Herminia S; Greenberg, Matthew B; Cavuoto, Kara M

    2017-12-01

    Frank-ter Haar syndrome (FTHS) is an autosomal recessive disorder characterized by abnormalities that affect the development of bone, heart, and eyes. We report a sibling pair with FTHS caused by a homozygous, novel mutation pLys133Glnfs*13 in the SH3PXD2B gene: one sibling had bilateral ocular hypertension and unilateral colobomas of iris, choroid and retina; the other, unilateral myelinated nerve fiber layer of the optic disk and papilledema due to idiopathic intracranial hypertension. Both children had refractive amblyopia and megalocornea. Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  16. Congenital gluteus maximus contracture syndrome--a case report with review of imaging findings.

    Science.gov (United States)

    Kotha, Vamshi Krishna; Reddy, Rajasekhar; Reddy, M Venkateshwar; Moorthy, Rangubatla Sathyanrayana; Kishan, Tatikonda Venkat

    2014-04-01

    Although the clinical features of gluteus maximus contracture syndrome have been frequently described, imaging features have been seldom described. Most commonly reported cases are those following intramuscular injection in the gluteal region although congenital contracture is an uncommon but important occurrence. This condition has most often been reported in children of school going age. These patients often present with difficulty in squatting, limitation of hip motion or specific deformities and often require surgical correction. We describe the plain radiography, ultrasonography (USG) and magnetic resonance imaging (MRI) features of this condition in a patient with no previous known history of intramuscular injections.

  17. Congenital gluteus maximus contracture syndrome - a case report with review of imaging findings

    Science.gov (United States)

    Kotha, Vamshi Krishna; Reddy, Rajasekhar; Reddy, M. Venkateshwar; Moorthy, Rangubatla Sathyanrayana; Kishan, Tatikonda Venkat

    2014-01-01

    Although the clinical features of gluteus maximus contracture syndrome have been frequently described, imaging features have been seldom described. Most commonly reported cases are those following intramuscular injection in the gluteal region although congenital contracture is an uncommon but important occurrence. This condition has most often been reported in children of school going age. These patients often present with difficulty in squatting, limitation of hip motion or specific deformities and often require surgical correction. We describe the plain radiography, ultrasonography (USG) and magnetic resonance imaging (MRI) features of this condition in a patient with no previous known history of intramuscular injections. PMID:24967033

  18. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

    Science.gov (United States)

    Edwards, Timothy J.; Sherr, Elliott H.; Barkovich, A. James

    2014-01-01

    The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field. PMID:24477430

  19. Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases.

    Science.gov (United States)

    Plaiasu, Vasilica; Ochiana, Diana; Motei, Gabriela; Anca, Ioana; Georgescu, Adrian

    2010-07-01

    Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management.

  20. Lung morphology in acute respiratory distress syndrome (ARDS): comparison of chest X-ray and CT findings

    International Nuclear Information System (INIS)

    Keske, U.; Pappert, D.; Lewandowski, K.; Gerlach, H.; Hierholzer, J.; Hosten, N.; Schneider, M.; Paust, E.; Falke, K.J.; Felix, R.

    1994-01-01

    Lung morphology of the acute respiratory distress syndrome (ARDS) was analyzed in chest X-ray and computed tomography (CT). 81 patients with ARDS were examined (409 chest X-rays, 95 of those were compared with CTs). CT showed increased lung densities mostly in the dependent posterior, paravertebral lungs. In chest X-rays, these areas superimpose to the perihilar lung and thus cause the chest X-ray finding of a 'central', perihilar oedema. Bronchopneumograms, which are a frequent finding in ARDS, are mostly caused by the increased lung density in the dependent parts of the lungs. Systematic comparison of chest X-ray and CT-findings enables a better understanding of the chest X-ray morphology of ARDS. (orig.) [de

  1. Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome.

    Science.gov (United States)

    Yamada, Keitaro; Toribe, Yasuhisa; Kimizu, Tomokazu; Kimura, Sadami; Ikeda, Tae; Mogami, Yukiko; Yanagihara, Keiko; Mano, Toshiyuki; Suzuki, Yasuhiro

    2014-10-01

    To evaluate the prognostic importance of electroencephalography (EEG) findings at cessation of epileptic spasms for seizure outcome. We reviewed 71 children with West syndrome (cryptogenic 14) who had obtained control of epileptic spasms with initial treatment (adrenocorticotropic hormone (ACTH) 37, high-dose vitamin B6 2, and antiepileptic drugs 32). According to the EEG findings at control of epileptic spasms, the subjects were divided into three groups: normal group (no epileptic activity, n=12), abnormal group (residual epileptic activity without hypsarrhythmia, n=53), and hypsarrhythmic group (persisting hypsarrhythmia, n=6). Overall, 47 (66%) of the 71 patients (cryptogenic 4) had experienced relapses of seizures (epileptic spasms 23 and focal seizure 24) after initial control of epileptic spasms. Within symptomatic cases, seizure relapse rate varied widely from 0% (Down syndrome) to 100% (tuberous sclerosis), depending on underlying causes. Seizure relapse depended on the EEG findings at control of epileptic spasms. The normal group had a significantly lower seizure relapse rate (17%) in comparison with the abnormal group (75%), the hypsarrhythmic group (83%), and the epileptiform (abnormal plus hypsarrhythmic, 76%) group. No significant difference in seizure relapse rate was observed between non-hypsarrhythmic (normal plus abnormal, 65%) and hypsarrhythmic groups. At the last follow-up, normal group children also showed a favorable seizure prognosis (seizure control 100%). A favorable seizure prognosis is associated with the disappearance of epileptic activity, but not the resolution of hypsarrhythmic pattern on EEG at control of epileptic spasms. We suggest that effective treatment for West syndrome should produce both cessation of epileptic spasms and disappearance of epileptic activity on EEG. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  2. Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.

    Science.gov (United States)

    Adadi, N; Lahrouchi, N; Bouhouch, R; Fellat, I; Amri, R; Alders, M; Sefiani, A; Bezzina, C; Ratbi, I

    2017-04-02

    Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. Cardiac symptoms arise mostly in early childhood and consist of syncopal episodes during periods of stress, exercise, or fright and are associated with a high risk of sudden cardiac death. Jervell and Lange-Nielsen syndrome is caused by homozygous or compound heterozygous mutations in KCNQ1 on 11p15.5 or KCNE1 on 1q22.1-q22.2. We report the case of a 10-year-old Moroccan boy with congenital hearing loss and severely prolonged QT interval who presented with multiple episodes of syncope. His parents are first-degree cousins. We performed Sanger sequencing and identified a homozygous variant in KCNQ1 (c.1343dupC, p.Glu449Argfs*14). The identification of the genetic substrate in this patient confirmed the clinical diagnosis of Jervell and Lange-Nielsen syndrome and allowed us to provide him with appropriate management and genetic counseling to his family. In addition, this finding contributes to our understanding of genetic disease in the Moroccan population.

  3. Thin-section chest CT findings in systemic lupus erythematosus with antiphospholipid syndrome: A comparison with systemic lupus erythematosus without antiphospholipid syndrome

    International Nuclear Information System (INIS)

    Oki, Hodaka; Aoki, Takatoshi; Saito, Kazuyoshi; Yamashita, Yoshiko; Hanamiya, Mai; Hayashida, Yoshiko; Tanaka, Yoshiya; Korogi, Yukunori

    2012-01-01

    Purpose: To assess thin-section chest CT findings in systemic lupus erythematosus (SLE) with antiphospholipid syndrome (APS), in comparison with SLE without APS. Materials and methods: We retrospectively reviewed the medical records and thin-section CT findings of 17 consecutive patients with an established diagnosis of SLE with APS, comparing with 37 consecutive SLE patients without APS, between 2004 and 2008, and patients who had other autoimmune disease, such as Sjögren syndrome, were excluded. No significant differences were seen between the two groups in age, gender, smoking habits, or history of steroid pulse and biological therapy. CT images of 2 mm thickness obtained with a 16- or 64-detector row CT were retrospectively evaluated by two radiologists in consensus on ultra high-resolution gray-scale monitors. Results: The frequency of thin-section CT abnormalities was higher in SLE with APS group (82%) than in SLE without APS group (43%). Ground-glass opacity (59%), architectural distortion (47%), reticulation (41%), enlarged peripheral pulmonary artery (29%), and mosaic attenuation (29%) were significantly more common in the SLE with APS group than in the SLE without APS group (Fisher's exact test, p < 0.01). Conclusion: SLE patients with APS have increased prevalence of thin-section chest CT abnormalities than those without APS.

  4. A fatal case of middle east respiratory syndrome corona virus infection in South Korea: Cheat radiography and CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seung Eun; Kim, Hyo Lim; Choi, Su Mi [Dept. of Internal Medicine, Yeouido St. Mary' s Hospital, The Catholic University of Korea College of Medicine, Seoul (Korea, Republic of)

    2016-06-15

    The outbreak of Middle East Respiratory Syndrome Corona Virus (MERS-CoV) infection in South Korea originated from Saudi Arabia. This virus shows high infectivity, and causes outbreaks of severe febrile respiratory infections in health care-associated settings. Herein, we reported a fatal case of MERS-CoV infection with a focus on the pulmonary radiologic findings. The initial chest computed tomography and radiographs of our patient showed ground-glass opacity in patchy distribution, followed by rapid progression of consolidation and pleural effusion in serial studies.

  5. A fatal case of middle east respiratory syndrome corona virus infection in South Korea: Cheat radiography and CT findings

    International Nuclear Information System (INIS)

    Lee, Seung Eun; Kim, Hyo Lim; Choi, Su Mi

    2016-01-01

    The outbreak of Middle East Respiratory Syndrome Corona Virus (MERS-CoV) infection in South Korea originated from Saudi Arabia. This virus shows high infectivity, and causes outbreaks of severe febrile respiratory infections in health care-associated settings. Herein, we reported a fatal case of MERS-CoV infection with a focus on the pulmonary radiologic findings. The initial chest computed tomography and radiographs of our patient showed ground-glass opacity in patchy distribution, followed by rapid progression of consolidation and pleural effusion in serial studies

  6. An Isolated Pulmonary Hematoma Mimicking a Lung Tumor as the Initial Finding of Vascular Ehlers-Danlos Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Eun Ju; Lee, Ki Nam; Choi, Pil Jo [Dept. of Radiology, Dong-A University Medicine Center, Dong-A University College of Medicine, Busan (Korea, Republic of); Ki, Chang Seok [Dept. of Radiology, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2012-09-15

    The vascular type of Ehlers-Danlos syndrome (vEDS) is an uncommon inherited disorder characterized by abnormalities in type III collagen, presenting itself as arterial dissection or rupture. We report a case of an isolated pulmonary hematoma mimicking a lung tumor in an 18-year-old man which turned out to be the initial finding of vEDS. Pneumothorax and hemothorax occurred repeatedly for 15 months following the surgical removal of the mass, and were treated by repeated left upper and lower lobectomy and thoracotomy. The diagnosis of vEDS was confirmed by pathologic and genetic studies.

  7. Incidental breast carcinoma in reduction mammoplasty.

    Science.gov (United States)

    Huysmans, Michaël; Bronckaers, Marc; Schillebeeckx, Charlotte; Servaes, Dirk

    2017-10-01

    The objective of this study was to analyze the incidence and treatment options of occult cancer or atypical lesions found in the histopathological examination of reduction mammoplasty (RM) specimens. The role of preoperative mammography and systematic histopathological examination are discussed. We performed a retrospective single-center database review of all patients who underwent a RM between January 2005 and December 2014. Preoperative examination, histopathological findings and follow-up were documented. A total of 1045 patients underwent RM, of which 97% were bilateral (1021). All patients received a mammography and routine clinical examination to exclude cancer preoperatively. The overall mean patient age was 40.2 years (14.2-73.4). A total of 19 patients (1.18%) had significant histopathological findings, all of whom were over 40 years of age. There were 4 incidental carcinomas (0.38%), of which 2 were DCIS (0.19%) and 2 invasive ductal carcinomas (0.19%). Incidence of postoperative diagnosis of occult breast cancer in RM specimens remains low, but poses significant therapeutic challenges. While emphasis should lay on preoperative diagnostics, routine histological analysis of RM specimens is recommended.

  8. Incidental mastoid opacification in children on MRI

    International Nuclear Information System (INIS)

    Singh, Sumit; Kuruva, Manohar; Rettiganti, Mallikarjuna Rao; Qin, Curtis; Hegde, Shilpa V.

    2016-01-01

    The opacification the mastoid cavity is frequently reported by radiologists on cross-sectional imaging done for non-otological indications. It is well known that presence of fluid the mastoid does not amount to mastoiditis. This study seeks to provide an evidence-based confirmation of this known finding. The purpose of our study was to determine the prevalence of mastoid opacification in children undergoing outpatient brain MRI examination. Our study included 515 outpatient children who had brain MRI for indications other than mastoiditis or otitis media from January 2014 to March 2014. Children with history of skull base trauma or radiation were excluded. The age range was 15 days to 18 years. The overall prevalence of mastoid opacification was determined using one sample proportion and exact 95% Clopper-Pearson confidence intervals. The prevalence of mastoid opacification was analyzed based on gender, age and presenting symptoms using chi-square test of association. One hundred ten children (21.4%) had mastoid opacification. Younger patients tended to have higher opacification rates with the prevalence in children younger than 1 year of age and between 1 and 2 years of age as high as 41.7% (20/48) and 47.5% (38/80), respectively. The diagnosis of mastoiditis in children should not be based upon a radiologist's report of finding fluid or mucosal thickening in the mastoid air cells as incidental opacification the mastoid is seen frequently. (orig.)

  9. Incidental mastoid opacification in children on MRI

    Energy Technology Data Exchange (ETDEWEB)

    Singh, Sumit; Kuruva, Manohar [University of Arkansas for Medical Sciences, Pediatric Radiology, Little Rock, AR (United States); Rettiganti, Mallikarjuna Rao [University of Arkansas for Medical Sciences and Arkansas Children' s Hospital Research Institute, Biostatistics Program, Department of Pediatrics, Little Rock, AR (United States); Qin, Curtis [Georgetown University Hospital, Radiology, Washington, DC (United States); Hegde, Shilpa V. [University of Pittsburgh Medical Centre, Section of Neuroradiology, Pittsburgh, PA (United States)

    2016-05-15

    The opacification the mastoid cavity is frequently reported by radiologists on cross-sectional imaging done for non-otological indications. It is well known that presence of fluid the mastoid does not amount to mastoiditis. This study seeks to provide an evidence-based confirmation of this known finding. The purpose of our study was to determine the prevalence of mastoid opacification in children undergoing outpatient brain MRI examination. Our study included 515 outpatient children who had brain MRI for indications other than mastoiditis or otitis media from January 2014 to March 2014. Children with history of skull base trauma or radiation were excluded. The age range was 15 days to 18 years. The overall prevalence of mastoid opacification was determined using one sample proportion and exact 95% Clopper-Pearson confidence intervals. The prevalence of mastoid opacification was analyzed based on gender, age and presenting symptoms using chi-square test of association. One hundred ten children (21.4%) had mastoid opacification. Younger patients tended to have higher opacification rates with the prevalence in children younger than 1 year of age and between 1 and 2 years of age as high as 41.7% (20/48) and 47.5% (38/80), respectively. The diagnosis of mastoiditis in children should not be based upon a radiologist's report of finding fluid or mucosal thickening in the mastoid air cells as incidental opacification the mastoid is seen frequently. (orig.)

  10. Relative Preference and Localized Food Affect Predator Space Use and Consumption of Incidental Prey.

    Directory of Open Access Journals (Sweden)

    Tyler E Schartel

    Full Text Available Abundant, localized foods can concentrate predators and their foraging efforts, thus altering both the spatial distribution of predation risk and predator preferences for prey that are encountered incidentally. However, few investigations have quantified the spatial scale over which localized foods affect predator foraging behavior and consumption of incidental prey. In spring 2010, we experimentally tested how point-source foods altered how generalist predators (white-footed mice, Peromyscus leucopus utilized space and depredated two incidental prey items: almonds (Prunus dulcis; highly profitable and maple seeds (Acer saccharum; less profitable. We estimated mouse population densities with trapping webs, quantified mouse consumption rates of these incidental prey items, and measured local mouse activity with track plates. We predicted that 1 mouse activity would be elevated near full feeders, but depressed at intermediate distances from the feeder, 2 consumption of both incidental prey would be high near feeders providing less-preferred food and, 3 consumption of incidental prey would be contingent on predator preference for prey relative to feeders providing more-preferred food. Mouse densities increased significantly from pre- to post-experiment. Mean mouse activity was unexpectedly greatest in control treatments, particularly <15 m from the control (empty feeder. Feeders with highly preferred food (sunflower seeds created localized refuges for incidental prey at intermediate distances (15 to 25m from the feeder. Feeders with less-preferred food (corn generated localized high risk for highly preferred almonds <10 m of the feeder. Our findings highlight the contingent but predictable effects of locally abundant food on risk experienced by incidental prey, which can be positive or negative depending on both spatial proximity and relative preference.

  11. [Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene].

    Science.gov (United States)

    Capataz Ledesma, M; Méndez Pérez, P; Rodríguez López, R; Galán Gómez, E

    2013-02-01

    Allgrove syndrome (triple A) is a rare autosomal recessive disease. The classic triad includes, congenital adrenal insufficiency due to ACTH resistance, achalasia of the cardia and alacrimia. Neurological abnormalities are associated with autonomic neuropathy, sensory and motor defects, deafness, mental retardation, Parkinsonism and dementia. The gene responsible is the ADRACALIN or AAAS encoding a protein called ALADIN. We report a case of a 19 year-old male, assessed when he was 10 years old in our department due to suspected storage disease. Mild mental and language retardation, hypernasal voice, sensory-motor neuropathy with autonomic involvement and signs of spastic paraparesis, alacrimia. gastroesophageal reflux, and achalasia. Molecular studies showed to mutations, the undescribed p.Tyr 19 Cys, and IVS14 +1 G. Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  12. Oral findings in Rett syndrome: a systematic review of the dental literature.

    Science.gov (United States)

    Fuertes-González, María-Cristina; Silvestre, Francisco-Javier; Almerich-Silla, José-Manuel

    2011-01-01

    Rett syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. The present review describes the 35 cases of RS published in the indexed literature (Medline)--the first corresponding to 1985 and the last to the year 2007. Certain oral manifestations of the disease are derived from the drug treatment prescribed to control the disease, while others are common to other clinical conditions characterized by convulsion activity, difficulties for correct oral hygiene, walking problems and/or an excess of oral/digital-manual habits. In any case, bruxism is the oral habit most frequently associated with RS--the treatment of which remains the subject of controversy.

  13. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.

    Science.gov (United States)

    Myers, Kenneth A; Mandelstam, Simone A; Ramantani, Georgia; Rushing, Elisabeth J; de Vries, Bert B; Koolen, David A; Scheffer, Ingrid E

    2017-06-01

    This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping. Additional subjects were included who approached us after the family support group brought attention to our research via social media. Inclusion criteria were genetic testing results demonstrating 17q21.31 deletion or KANSL1 mutation, and at least one seizure. Thirty-one individuals were studied, aged 2-35 years. Median age at seizure onset was 3.5 years, and 9 of 22 had refractory seizures 2 years after onset. Focal impaired awareness seizures were the most frequent seizure type occurring in 20 of 31, usually with prominent autonomic features. Twenty-one patients had prolonged seizures and, at times, refractory status epilepticus. Electroencephalography (EEG) showed focal/multifocal epileptiform discharges in 20 of 26. MRI studies of 13 patients were reviewed, and all had structural anomalies. Corpus callosum dysgenesis, abnormal hippocampi, and dilated ventricles were the most common, although periventricular nodular heterotopia, focal cortical dysplasia, abnormal sulcation, and brainstem and cerebellum abnormalities were also observed. One patient underwent epilepsy surgery for a lesion that proved to be an angiocentric glioma. The typical epilepsy phenotype of KdVS involves childhood-onset focal seizures that are prolonged and have prominent autonomic features. Multifocal epileptiform discharges are the typical EEG pattern. Structural brain abnormalities may be universal, including signs of abnormal neuroblast migration and abnormal axonal guidance. Epilepsy surgery should

  14. The Epidemiology of Irritable Bowel Syndrome in the US Military: Findings from the Millennium Cohort Study.

    Science.gov (United States)

    Riddle, Mark S; Welsh, Marleen; Porter, Chad K; Nieh, Chiping; Boyko, Edward J; Gackstetter, Gary; Hooper, Tomoko I

    2016-01-01

    Functional gastrointestinal disorders occur more frequently among deployed veterans, although studies evaluating the relative impact of risk factors, including stress and antecedent infectious gastroenteritis (IGE), are limited. We examined risk factors for new-onset irritable bowel syndrome (IBS) among active duty participants in the military's Millennium Cohort Study. Medical encounter data from 2001 to 2009, limited to Cohort members on active duty, were used to identify incident IBS cases (any and highly probable). IGE was identified using medical encounter or self-report. Covariate data were obtained from the Millennium Cohort Study surveys and analyzed using Cox proportional hazards methods. Overall, 41,175 Cohort members met the eligibility criteria for inclusion and 314 new-onset cases of IBS were identified among these. Significant risk factors (adjusted hazard ratio, 95% confidence interval) included antecedent IGE (2.05, 1.53-2.75), female gender (1.96, 1.53-2.52), number of life stressors (1: 1.82, 1.37-2.41; 2: 2.86, 2.01-4.06; 3+: 6.69, 4.59-9.77), and anxiety syndrome (1.74, 1.17-2.58). Limited to highly probable IBS, a stronger association with antecedent IGE was observed, particularly when based on medical encounter records (any IGE: 2.20, 1.10-4.43; medical encounter IGE only: 2.84, 1.33-6.09). Precedent anxiety or depression and IGE interacted with increased IBS risk compared with IGE alone. These results confirm previous studies on the association between sociodemographic or life stressors and IBS. IGE was significantly associated with IBS risk. Whether deployed or not, US service members often encounter repeated exposure to high levels of stress, which, combined with other environmental factors such as IGE, may result in long-term debilitating functional gastrointestinal disorders.

  15. Incidental papillary fibroelastoma of the tricuspid valve

    OpenAIRE

    Strecker, Thomas; Scheuermann, Sabine; Nooh, Ehab; Weyand, Michael; Agaimy, Abbas

    2014-01-01

    Primary cardiac tumors are very rare, papillary fibroelastoma (PFE) being the second most common benign tumor of the heart in previous series. However, as a consequence of increased imaging examinations, incidental PFE may represent the most common cardiac tumor. Their clinical presentation varies from incidental asymptomatic masses to severe life-threatening cardiovascular complications necessitating emergency surgery. Here we report the diagnostic evaluation and successful surgical resectio...

  16. Risk of appendicitis in patients with incidentally discovered appendicoliths.

    Science.gov (United States)

    Khan, Muhammad Sohaib; Chaudhry, Mustafa Belal Hafeez; Shahzad, Noman; Tariq, Marvi; Memon, Wasim Ahmed; Alvi, Abdul Rehman

    2018-01-01

    An appendicolith-related appendiceal obstruction leading to appendicitis is a commonly encountered surgical emergency that has clear evidence-based management plans. However, there is no consensus on management of asymptomatic patients when appendicoliths are found incidentally. The objective of this study was to determine the risk of appendicitis in patients with an incidental finding of the appendicolith. A retrospective matched cohort study of patients with appendicolith discovered incidentally on computed tomographic scan from January 2008 to December 2014 at our institution was completed. The size and position of the appendicolith were ascertained. The study group was matched by age and gender to a control group. Both groups were contacted and interviewed regarding development of appendicitis. In total, 111 patients with appendicolith were successfully contacted and included in the study. Mean age was found to be 38 ± 15 y with 36 (32%) of the study population being females. Mean length of appendix was 66 ± 16 mm, and mean width was 5.8 ± 0.9 mm. Mean size of the appendicolith was 3.6 ± 1.1 mm (1.4-7.8 mm). Fifty-eight percent of appendicoliths was located at the proximal end or whole of appendix, 31% at mid area, and 11% at the distal end of appendix. All patients of the study and control groups were contacted, and at a mean follow-up of 4.0 ± 1.7 y, there was no occurrence of acute appendicitis in either group. Patients with incidentally discovered appendicolith on radiological imaging did not develop appendicitis. Hence, the risk of developing acute appendicitis for these patients does not seem higher than the general population. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. PROMOTING INCIDENTAL VOCABULARY LEARNING THROUGH VERBAL DRAMATIZATION OF WORDS

    Directory of Open Access Journals (Sweden)

    Looi-Chin Ch’ng

    2014-12-01

    Full Text Available Despite the fact that explicit teaching of vocabulary is often practised in English as a Second Language (ESL classrooms, it has been proven to be rather ineffective, largely because words are not taught in context. This has prompted the increasing use of incidental vocabulary learning approach, which emphasises on repeated readings as a source for vocabulary learning. By adopting this approach, this study aims to investigate students’ ability in learning vocabulary incidentally via verbal dramatization of written texts. In this case, readers’ theatre (RT is used as a way to allow learners to engage in active reading so as to promote vocabulary learning. A total of 160 diploma students participated in this case study and they were divided equally into two groups, namely classroom reading (CR and RT groups. A proficiency test was first conducted to determine their vocabulary levels. Based on the test results, a story was selected as the reading material in the two groups. The CR group read the story through a normal reading lesson in class while the RT group was required to verbally dramatize the text through readers’ theatre activity. Then, a post-test based on vocabulary levels was carried out and the results were compared. The findings revealed that incidental learning was more apparent in the RT group and their ability to learn words from the higher levels was noticeable through higher accuracy scores. Although not conclusive, this study has demonstrated the potential of using readers’ theatre as a form of incidental vocabulary learning activity in ESL settings.

  18. Empty sella syndrome in a male child with failure to thrive.

    Science.gov (United States)

    Rath, Debasmita; Sahoo, Ranjan Kumar; Choudhury, Jasashree; Dash, Dillip Kumar; Mohapatra, Anuspandana

    2015-01-01

    Empty sella syndrome (ESS) is commonly seen in adult and is considered as an infrequent finding in childhood. It may be diagnosed incidentally on imaging in asymptomatic children. However, most of the children with ESS present with features of hypothalamic-pituitary dysfunction. We report a case of ESS in a child with features of failure to thrive as well as hypopituitarism and review the literature briefly on the subject.

  19. F 18 FDG PET/CT Findings of Spontaneous Mesenteric Fibromatosis in a Patient with Gardner's Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Sohn, Myung Hee; Jeong, Young Jin; Lim, Seok Tae; Kim, Dong Wook; Jeong, Hwan Jeong; Yim, Chang Yeol [Chonbuk National Univ. Medical School and Hospital, Jeonju (Korea, Republic of)

    2011-06-15

    Gardner's syndrome (GS), a variant of familial adenomatous polyposis, is an autosomal dominant disease. Originally, Gardner described a syndrome consisting of hereditary intestinal polyposis With osteomas and multiple cutaneous and subcutaneous lesions. The syndrome was later modified by the addition of other features, such as dental abnormalities, abdominal fibromatosis, and a number of malignant tumors. the principal cutaneous lesions that have been described in GS are epidermoid cysts. Other cutaneous lesions include fibromas, lipomas, leiomyomas, neurofibromas, and pigmented skin lesions. Fibromatoses are histologically benign, but locally aggressive fibrous tumors consisting of mature fibroblasts within an extensive collagen matrix. Most cases are sporadic, but there is a clear association with familial adenomatous polyposis and GS, suggesting a link with a mutation of the APC gene on chromosome 5q22. Fibromatosis occurs in 3.5%-29% of patients with GS, and is more likely to be multiple and to involve the mesentery and abdominal wall rather than being an isolated form. Clinically, fibromatosis presents as a painless firm soft tissue mass. Most cases of fibromatosis are believed to be precipitated by surgical trauma, however, a few cases of spontaneous occurrence have been reported. In our patient, no history of abdominal surgery or trauma was present. In addition, an abdominal CT obtained 2 years ago revealed no abnormality. Although the radiological features of fibromatosis on CT or MR have been described in the literature, F 18 FDG PET or PET/CT findings are rarely reported. The F 18 FDG uptake in patients with fibromatosis ranged from low to moderate grade and was generally heterogenous with a few tiny foci of relatively intense uptake or relatively homogenous. The areas of higher FDG metabolism are likely to represent more cellular and mitotically active areas. Mesenteric fibromatosis has similar findings to extra abdominal lesions.

  20. Association of symptoms with urodynamic findings in men with overactive bladder syndrome.

    Science.gov (United States)

    Al-Zahrani, Ali A; Gajewski, Jerzy B

    2012-12-01

    Study Type--Therapy (review) Level of Evidence 4. What's known on the subject? and What does the study add? It is known that overactive bladder (OAB) symptoms correlate weakly with urodynamic findings, especially in female patients. The study shows that OAB symptoms also correlate weakly with urodynamic findings in male patients. More than third of male patients with OAB symptoms had evidence of BOO. The study finds that a pressure flow study is of benefit in the evaluation of this group of patients. • To assess the correlation between overactive bladder (OAB) symptoms with urodynamic (UD) findings in men. • We conducted a retrospective study of all UD studies involving men with OAB symptoms. • All UD studies were carried out at a single centre from 1994 to 2009 and were reported by one urology specialist. • There were 668 UD reports included in the final analysis. All patients had symptoms of urgency with or without urgency incontinence (UI). • There was a weak correlation between OAB symptoms and UD findings. • All storage symptoms, except frequency, correlated with a finding of detrusor overactivity (DO). • Severity of urgency correlated inversely with a finding of bladder outlet obstruction (BOO). • Both nocturia and frequency correlated inversely with maximum cystometric capacity. • More than 75% of patients had concomitant voiding symptoms. Severity of voiding symptoms (slow stream and incomplete emptying) correlated inversely with documentation of DO. Voiding symptoms were predictors of BOO, while severe urgency was a negative predictor for BOO. • There were weak correlations between OAB symptoms and UD findings. Most men with OAB symptoms had concomitant voiding symptoms and more than a third (43%) of these had evidence of BOO. • A pressure flow study is of benefit in the evaluation of patients with OAB symptoms. © 2012 THE AUTHORS. BJU INTERNATIONAL © 2012 BJU INTERNATIONAL.