WorldWideScience

Sample records for embolism syndrome presented

  1. Pulmonary embolism as the primary presenting feature of nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Pallavi Periwal

    2016-01-01

    Full Text Available A 36-year-old previously healthy male presented with subacute onset of shortness of breath and chest pain. He was diagnosed with bilateral extensive pulmonary embolism (PE. In the absence of any predisposing factors, an extensive workup for unprovoked thrombophilia was done. During the course of his illness, the patient developed anasarca and was diagnosed to be suffering from nephrotic syndrome (NS, secondary to membranous glomerulopathy. Although, thrombotic complications are commonly associated with NS, it is unusual for PE to be the primary presenting feature in these patients.

  2. Duplex ultrasound evidence of fat embolism syndrome

    Directory of Open Access Journals (Sweden)

    Abdallah Naddaf, MD

    2016-12-01

    Full Text Available Fat embolism syndrome is a potentially fatal disease process most commonly associated with long-bone and pelvic fractures. Reports describing ultrasound evidence of fat emboli are restricted to echocardiography. We propose a new objective finding on venous duplex ultrasound imaging of the lower extremities as a useful diagnostic criterion by presenting the case reports of two patients with acute long-bone fractures, possibly leading to earlier orthopedic fixation and allocation of resources to those patients at higher risk of fat embolism syndrome.

  3. Fat embolism syndrome: a review of the literature | Mustapha ...

    African Journals Online (AJOL)

    Fat embolism syndrome is a serious manifestation of fat embolism phenomenon characterized clinically by triad of dyspnoea, petechiae and mental confusion and usually follows long bone fractures. Its classic presentation consists of an asymptomatic interval followed by pulmonary and neurologic manifestations combined ...

  4. Clinical study on embolization syndromes after splenic arterial embolization

    International Nuclear Information System (INIS)

    Liu Minhua; Zhou Rumin

    2004-01-01

    Objective: To analyze the reaction of splenic arterial embolization (embolization syndromes) using 3 different materials together with the therapeutic methods. Methods: Thirty nine patients of cirrhosis with hypersplenism and hypersplenotrophy, 11 of them were treated with steel coils, 15 with gelfoam, 13 with the PVA. The embolized area was approximately 60% of the whole splenic area. Results: Thirty nine cases obtained the curative effect. The blood white cell and platelet counts were normal or close to normal. The rates of splenic pain in steel coils group, gelfoam group and PVA group were 81.8%, 100% and 100% respectively. The duration of serious pain were 2-5 d, 1-7 d and 1-7 d in coil group, gelfoam group and PVA group respectively. 33 patients had moderate fever around 38.5 degree C and 8 patients had eructation after embolization. The symptoms disappeared after using antibiotics, dexamethasone and analgesic. Conclusions: The algetic grade of splenic arterial embolization was inverse proportional with the size of embolus. The correct management could effectively control the symptoms of postembolization of the spleen

  5. The clinical presentation of pulmonary embolism

    International Nuclear Information System (INIS)

    Otto, A.C.; Dunn, M.; Van der Merwe, B.; Katz, M.

    2004-01-01

    Full text: Introduction: Pulmonary embolism is often misdiagnosed by many clinicians because of confusion with pulmonary infarction. According to present literature, the latter seldomly occurs, thus pleuritic pain and hemoptysis are usually absent. The purpose of our study was to re-evaluate the clinical presentation of pulmonary embolism with specific reference to the presence of pulmonary hypertension and pulmonary infarction. Materials and methods: Ethical committee approval was obtained to study fifteen patients with abnormal lung perfusion and high probability for pulmonary embolism retrospectively. Clinical data will be presented in table format. Appropriate symptoms and signs not mentioned was considered absent. Specific investigations not available was considered not done. Results: Will be displayed in table format. The main findings can be summarized as follows: 1. Dyspnea was present in all the patients; 2. Pleuritic pain and hemoptysis was absent in all the patients; 3. None of the patients had clinical signs of pulmonary hypertension or infarction; 4. The available special investigations confirmed the above mentioned findings. Conclusion: The absence of pulmonary infarction and pulmonary hypertension with submassive pulmonary embolism (<60% of pulmonary vascular bed occluded) was reconfirmed and should be emphasized more in clinical practice. (author)

  6. A Case of Turner Syndrome with Multiple Embolic Infarcts

    Directory of Open Access Journals (Sweden)

    Cindy W. Yoon

    2016-09-01

    Full Text Available Only a few cases of Turner syndrome (TS with ischemic stroke have been reported. Various arteriopathies of the cerebral arteries, including fibromuscular dysplasia, congenital hypoplasia, moyamoya syndrome, and premature atherosclerosis have been assumed to be the cause of ischemic stroke in TS. There has been no case report of a TS patient presenting with an embolic stroke pattern without any cerebral arteriopathy. A 28-year-old woman with TS was referred to our hospital because of abnormal brain magnetic resonance imaging (MRI findings. She underwent brain MRI at the referring hospital because she experienced sudden-onset diffuse headache. Diffusion-weighted imaging revealed multiple acute embolic infarcts in different vascular territories. Intracranial and extracranial arterial disease was not detected on cerebral magnetic resonance angiography and carotid sonography. Embolic source workups, including transthoracic and transesophageal echocardiography, Holter monitoring, and transcranial Doppler shunt study, were all negative. Hypercoagulability and vasculitis panels were also negative. Our patient was diagnosed with cryptogenic embolic stroke. This is the first report of a TS patient with an embolic stroke pattern. Our case shows that ischemic stroke in TS could be due to embolism as well as the various cerebral arteriopathies documented in previous reports.

  7. Pulmonary embolism presenting with ST segment elevation in inferior leads

    Directory of Open Access Journals (Sweden)

    Muzaffer Kahyaoğlu

    2017-03-01

    Full Text Available Acute pulmonary embolism is a form of venous thromboembolism that is widespread and sometimes mortal. The clinical presentation of pulmonary embolism is variable and often nonspecific making the diagnosis challenging. In this report, we present a case of pulmonary embolism characterized by ST segment elevation in inferior leads without reciprocal changes in the electrocardiogram.

  8. STUDIES ON THE SYNDROME OF FAT EMBOLIZATION.

    Science.gov (United States)

    SPROULE, B J; BRADY, J L; GILBERT, J A

    1964-05-30

    Three patients, all of whom were well-muscled young adult males who had suffered fractures of long bones, were studied by means of measurement of ventilatory function and arterial blood gases. They had degrees of mental change varying from mild confusion to stupor. Anemia, hypocalcemia, skin petechiae and radiologic pulmonary infiltrates were demonstrated in all three.In the absence of any clinical cyanosis, profound arterial O(2) desaturation was demonstrated in all. Physiologic studies indicated that the desaturation was the result of a diffusion defect early in the course of the syndrome and later from venous admixture. The lungs were stiff and the work of breathing was increased. The anemia appeared to be hemolytic in type.It is suggested that anemia, hypocalcemia and arterial O(2) desaturation may contribute significantly to the cerebral symptomatology associated with the syndrome of fat embolization.

  9. Pulmonary Embolism as the Initial Presentation of Testicular Carcinoma

    Science.gov (United States)

    Berber, Ilhami; Erkurt, Mehmet Ali; Ulutas, Ozkan; Ediz, Caner; Nizam, Ilknur; Kırıcı Berber, Nurcan; Unlu, Serkan; Koroglu, Reyhan; Koroglu, Mustafa; Akpolat, Nusret

    2013-01-01

    Objective. The risk of pulmonary embolism is well recognized as showing an increase in oncological patients. We report a case presenting with pulmonary embolism initially, which was then diagnosed with testicular cancer. Clinical Presentation and Intervention. A 25-year-old man was admitted to the emergency department with a complaint of dyspnoea. Thoracic tomography, lung ventilation/perfusion scintigraphy, and an increased D-dimer level revealed pulmonary embolism. For the aetiology of pulmonary embolism, a left orchiectomy was performed and the patient was diagnosed with a germinal cell tumour of the testicle. Conclusion. In this paper, we present a patient for whom pulmonary embolism was the initial presentation, and a germinal cell tumour was diagnosed later during the search for the aetiology. PMID:24383024

  10. Embolization to treat pelvic congestion syndrome and vulval varicose veins.

    NARCIS (Netherlands)

    Vleuten, C.J.M. van der; Kempen, J.A.L. van; Schultze Kool, L.J.

    2012-01-01

    OBJECTIVE: To evaluate the efficacy of embolization for treating the symptoms of pelvic congestion syndrome (PCS). METHODS: Twenty-one women with PCS who were treated with embolization at Radboud University Nijmegen Medical Centre between 2003 and 2008 were sent a questionnaire about their symptoms

  11. Pelvic pain syndrome - successful treatment by ovarian vein embolization : a case report

    International Nuclear Information System (INIS)

    Yun, Ji Young; Hahn, Seong Tai; Lee, Jae Mun; Kim, Choon Yul; Yim, Jung Ik; Jang, Jae Soon; Kim, Sang Woo; Kim Jae Kwang; Sun, Hee Sik; Shinn, Kyung Sub

    1998-01-01

    Pelvic pain syndrome or pelvic congestion syndrome, with no apparent organic cause, is a common gynecological disorder. Ovarian varix, one of the causes of this syndrome, presents a difficult diagnostic and therapeutic problem, though surgical ligation of the ovarian vein is an effective method of treatment. although ovarian vein embolization has been recently developed as a useful alternative, no previous reports have described this procedure in Korea. We report a case of pelvic pain syndrome successfully treated by ovarian vein embolization. (author). 10 refs., 3 figs

  12. Cortical Blindness In Fat Embolism Syndrome Following Fracture Manipulative Procedure

    Directory of Open Access Journals (Sweden)

    A Shahrulazua

    2010-03-01

    Full Text Available Fat embolism syndrome is a well-recognised sequela of long bone trauma as well as intramedullary orthopaedic procedures. However, it has rarely been described following manipulation, reduction of fracture, and application of external fixator. Furthermore, bilateral ocular blindness is seldom the first manifestation; instead respiratory and other cerebral symptoms being most common. We describe a case with this rare presentation in a patient who underwent a trial of closed reduction, then open reduction of a femur fracture, followed by external fixation performed at day 47 post-initial trauma.

  13. Mucous plug syndrome. A pulmonary embolism mimic

    International Nuclear Information System (INIS)

    Bray, S.T.; Johnstone, W.H.; Dee, P.M.; Pope, T.L. Jr.; Teates, C.D.; Tegtmeyer, C.J.

    1984-01-01

    Reported are ten instances of major bronchial obstruction by mucous plugs in eight patients during which the clinical features resembled pulmonary embolism. Perfusion lung studies showed significantly diminished perfusion of the involved portions of the lungs. The chest radiographs generally did not, however, reflect the severity of the airway obstruction and in some instances were completely normal. The ventilation studies indicated the extent and severity of the obstruction and matched with the perfusion scans. Pulmonary arteriograms were performed in three patients and gave direct evidence of focally diminished lung perfusion without embolism. The physiologic mechanisms underlying the condition are discussed

  14. Unprovoked Pulmonary Embolism in a Young Patient with Marfan Syndrome.

    Science.gov (United States)

    Pak, Stella; Kilgore, Andrew; Thornhill, Rosanne; Rako, Kyle; Meier, Ali; Pora, Gavriella; Costello, Jillian M; Dee, Christine

    2017-09-05

    Marfan syndrome is a rare connective tissue disorder with a prevalence of approximately 2 to 3 per 10,000 individuals. There have been some reports of young patients with Marfan syndrome developing arteriovenous thromboembolism. These events were unprovoked and recurrent. Owing to its rarity, hypercoagulopathy and other metabolic derangement in patients with Marfan syndrome remains largely unknown. Herein, we report a case of a young man with Marfan syndrome who had myocardial infarction and pulmonary embolism. We hope that this case adds to the scant body of knowledge about this patient population.

  15. Amniotic fluid embolism and isolated coagulopathy: atypical presentation of amniotic fluid embolism.

    LENUS (Irish Health Repository)

    Awad, I T

    2012-02-03

    A 41-year-old multigravida presented at 32 weeks of gestation with polyhydramnios and an anencephalic fetus. Abnormal bleeding as a result of disseminated intravascular coagulation complicated an emergency Caesarean section for severe abdominal pain thought to be due to uterine rupture. Massive transfusion with blood products was necessary and the abdomen packed to control bleeding. The patient was transferred to the intensive care unit where she made a slow but complete recovery. Amniotic fluid embolism with atypical presentation of isolated coagulopathy is the likely diagnosis in this case. The case serves to demonstrate that amniotic fluid embolism may present with symptoms and signs other than the classical pattern of dyspnoea, cyanosis and hypotension.

  16. Alveolar hemorrhage in a case of fat embolism syndrome: A case report with short systemic review

    Directory of Open Access Journals (Sweden)

    Sananta Kumar Dash

    2013-01-01

    Full Text Available Fat embolism and fat embolism syndrome (FES are well-known complications of long bone fracture and surgery involving manipulation of skeletal elements. Many non-traumatic causes of FES have been suggested but they constitute only a small portion. FES presents with classical symptoms of petechiae, hypoxemia, central nervous system symptoms along with other features such as tachycardia and pyrexia. Diagnosis of FES relies on clinical judgment rather than objective findings such as emboli present in the retinal vessels on fundoscopy, fat globules present in urine and sputum, a sudden inexplicable drop in hematocrit or platelet values, increasing erythrocyte sedimentation rate.

  17. Embolization of Incompetent Pelvic Veins for the Treatment of Recurrent Varicose Veins in Lower Limbs and Pelvic Congestion Syndrome

    International Nuclear Information System (INIS)

    Meneses, Luis; Fava, Mario; Diaz, Pía; Andía, Marcelo; Tejos, Cristian; Irarrazabal, Pablo; Uribe, Sergio

    2013-01-01

    We present our experience with embolization of incompetent pelvic veins (IPV) in women with recurrence of varicose veins (VV) in lower limbs, as well as symptoms of pelvic congestion syndrome (PCS), after first surgery. In addition, we evaluated the effects of embolization in decreasing the symptoms of VV before surgery as well as its effects on PCS symptoms. We included 10 women who had consulted a vascular surgeon because of recurrent VV in lower limbs after surgery. All of these patients were included in the study because they also had symptoms of PCS, probably due to IPV. In patients who had confirmed IPV, we performed embolization before a second surgery. VV and PCS were assessed before and at 3 months after embolization (before the second surgery) using a venous clinical severity score (VCSS) and a visual analog pain scale (VAS), respectively. Patients were controlled between 3 and 6 months after embolization. Paired Student t test analysis was used for comparing data before and after embolization. Fifteen vein segments in 10 women were suitable for embolization. There was a significant (p < 0.001) decrease of VCSS after embolization, and recurrence of VV was not detected within a period of 6 months. There was also significant (p < 0.01) relief of chronic pelvic pain related to PCS evaluated using VAS at 3 months after embolization. Embolization decreases the risk of VV recurrence after surgery and also improves PCS symptoms in women with VV in lower limbs and IPV.

  18. Embolization of Incompetent Pelvic Veins for the Treatment of Recurrent Varicose Veins in Lower Limbs and Pelvic Congestion Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Meneses, Luis, E-mail: lmeneseq@gmail.com; Fava, Mario; Diaz, Pia; Andia, Marcelo [Pontificia Universidad Catolica de Chile, Radiology Department and Biomedical Imaging Center (Chile); Tejos, Cristian; Irarrazabal, Pablo [Pontificia Universidad Catolica de Chile, Biomedical Imaging Center (Chile); Uribe, Sergio, E-mail: suribe@med.puc.cl [Pontificia Universidad Catolica de Chile, Radiology Department and Biomedical Imaging Center (Chile)

    2013-02-15

    We present our experience with embolization of incompetent pelvic veins (IPV) in women with recurrence of varicose veins (VV) in lower limbs, as well as symptoms of pelvic congestion syndrome (PCS), after first surgery. In addition, we evaluated the effects of embolization in decreasing the symptoms of VV before surgery as well as its effects on PCS symptoms. We included 10 women who had consulted a vascular surgeon because of recurrent VV in lower limbs after surgery. All of these patients were included in the study because they also had symptoms of PCS, probably due to IPV. In patients who had confirmed IPV, we performed embolization before a second surgery. VV and PCS were assessed before and at 3 months after embolization (before the second surgery) using a venous clinical severity score (VCSS) and a visual analog pain scale (VAS), respectively. Patients were controlled between 3 and 6 months after embolization. Paired Student t test analysis was used for comparing data before and after embolization. Fifteen vein segments in 10 women were suitable for embolization. There was a significant (p < 0.001) decrease of VCSS after embolization, and recurrence of VV was not detected within a period of 6 months. There was also significant (p < 0.01) relief of chronic pelvic pain related to PCS evaluated using VAS at 3 months after embolization. Embolization decreases the risk of VV recurrence after surgery and also improves PCS symptoms in women with VV in lower limbs and IPV.

  19. Intimal sarcoma of the pulmonary artery presenting as pulmonary embolism

    OpenAIRE

    Plata, María Camila; Rey, Diana Lucía; Villaquirán, Claudio; Rosselli, Diego

    2017-01-01

    SUMMARY Pulmonary artery sarcomas are extremely rare; due to their insidious growth, diagnosis occurs late and prognosis is poor. We present the case of a 33-year-old woman with a history of dyspnea, chest pain and syncope. An obstructing mass on the right ventricle, main pulmonary artery and right branch were interpreted as a possible pulmonary embolism. RESUMEN Los sarcomas de la arteria pulmonar son extremadamente raros; debido a su crecimiento lento y silencioso, el diagnóstico suele s...

  20. Conns' syndrome - atypical presentations

    International Nuclear Information System (INIS)

    Kumar, K V S Hari; Modi, K D; Jha, Sangeeta; Jha, Ratan

    2009-01-01

    Primary hyperaldosteronism (Conns' syndrome) commonly presents with a combination of clinical features of hypokalemia and hypertension. Atypical presentations like normotension, normokalemia and neurological ailments are described in few cases. We encountered two such cases, the first presenting with acute neurological complaint and second case having insignificant hypertension. Both the patients had a characteristic biochemical and imaging profile consistent with primary hyperaldosteronism and responded to surgical resection of adrenal adenoma. (author)

  1. 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)

  2. Rett syndrome: EEG presentation.

    Science.gov (United States)

    Robertson, R; Langill, L; Wong, P K; Ho, H H

    1988-11-01

    Rett syndrome, a degenerative neurological disorder of girls, has a classical presentation and typical EEG findings. The electroencephalograms (EEGs) of 7 girls whose records have been followed from the onset of symptoms to the age of 5 or more are presented. These findings are tabulated with the Clinical Staging System of Hagberg and Witt-Engerström (1986). The records show a progressive deterioration in background rhythms in waking and sleep. The abnormalities of the background activity may only become evident at 4-5 years of age or during stage 2--the Rapid Destructive Stage. The marked contrast between waking and sleep background may not occur until stage 3--the Pseudostationary Stage. In essence EEG changes appear to lag behind clinical symptomatology by 1-3 years. An unexpected, but frequent, abnormality was central spikes seen in 5 of 7 girls. They appeared to be age related and could be evoked by tactile stimulation in 2 patients. We hypothesize that the prominent 'hand washing' mannerism may be self-stimulating and related to the appearance of central spike discharges.

  3. Fibrocartilaginous embolic myelopathy: demographics, clinical presentation, and functional outcomes.

    Science.gov (United States)

    Moore, Brittany J; Batterson, Anna M; Luetmer, Marianne T; Reeves, Ronald K

    2018-05-25

    Retrospective cohort study. To describe the demographics, clinical presentation, and functional outcomes of fibrocartilaginous embolic myelopathy (FCEM). Academic inpatient rehabilitation unit in the midwestern United States. We retrospectively searched our database to identify patients admitted between January 1, 1995 and March 31, 2016, with a high probability of FCEM. Demographic, clinical, and functional outcome measures, including Functional Independence Measure (FIM) information was obtained by chart review. We identified 31 patients with findings suggestive of FCEM (52% male), which was 2% of the nontraumatic spinal cord injury population admitted to inpatient rehabilitation. The age distribution was bimodal, with peaks in the second and sixth-to-seventh decades. The most common clinical presentation was acute pain and rapid progression of neurologic deficits consistent with a vascular myelopathy. Only three patients (10%) had FCEM documented as a diagnostic possibility. Most patients had paraplegia and neurologically incomplete injuries and were discharged to home. Nearly half of the patients required no assistive device for bladder management at discharge, but most were discharged with medications for bowel management. Median FIM walking locomotion score for all patients was 5, but most patients were discharged using a wheelchair for primary mobility. Median motor FIM subscale score was 36 at admission and 69 at discharge, with a median motor efficiency of 1.41. FCEM may be underdiagnosed and should be considered in those with the appropriate clinical presentation, because their functional outcomes may be more favorable than those with other causes of spinal cord infarction.

  4. Combined Endovascular Treatment with Distal Radial Artery Coil Embolization and Angioplasty in Steal Syndrome Associated with Forearm Dialysis Fistula

    Energy Technology Data Exchange (ETDEWEB)

    Tercan, Fahri, E-mail: ftercan@yahoo.com; Koçyiğit, Ali, E-mail: alkoc@yahoo.com [Pamukkale University, Department of Radiology, School of Medicine (Turkey); Güney, Bünyamin [Muğla Sıtkı Kocman University, Department of Radiology, School of Medicine (Turkey)

    2016-09-15

    PurposeThe present study was performed to define the results of the endovascular treatment with angioplasty and distal radial artery embolization in ischemic steal syndrome associated with forearm arteriovenous accesses.MethodThe cases referred to our interventional radiology unit with symptoms and physical examination findings suggestive of ischemic steal syndrome were retrospectively evaluated first by Doppler ultrasonography, and then by angiography. Cases with proximal artery stenosis were applied angioplasty, and those with steal syndrome underwent coil embolization to distal radial artery.ResultsOf 589 patients who underwent endovascular intervention for dialysis arteriovenous fistulae (AVF)-associated problems, 6 (1.01 %) (5 female, 1 males; mean age 62 (range 41–78) with forearm fistula underwent combined endovascular treatment for steal syndrome. In addition to steal phenomenon, there were stenosis and/or occlusion in proximal radial and/or ulnar artery in 6 patients concurrently. Embolization of distal radial artery and angioplasty to proximal arterial stenoses were performed in all patients. Ischemic symptoms were eliminated in all patients and the AVF were in use at the time of study. In one patient, ischemic symptoms recurring 6 months later were alleviated by repeat angioplasty of ulnar artery.ConclusionIn palmar arch steal syndrome affecting forearm fistulae, combined distal radial embolization and angioplasty is also an effective treatment method in the presence of proximal radial and ulnar arterial stenoses and occlusions.

  5. Use of Extracorporeal Membrane Oxygenation in a Fulminant Course of Amniotic Fluid Embolism Syndrome Immediately after Cesarean Delivery

    Directory of Open Access Journals (Sweden)

    Jae Ha Lee

    2016-08-01

    Full Text Available Amniotic fluid embolism is rare but is one of the most catastrophic complications in the peripartum period. This syndrome is caused by a maternal anaphylactic reaction to the introduction of fetal material into the pulmonary circulation. When amniotic fluid embolism is suspected, the immediate application of extracorporeal mechanical circulatory support such as veno-arterial extracorporeal membrane oxygenation (ECMO or cardiopulmonary bypass should be considered. Without the application of extracorporeal mechanical circulatory support, medical supportive care might not be sufficient to maintain cardiopulmonary stabilization in severe cases of amniotic fluid embolism. In this report, we present the case of a 36-year-old pregnant woman who developed an amniotic fluid embolism immediately after a cesarean section. Her catastrophic event started with the sudden onset of severe hypoxia, followed by circulatory collapse within 8 minutes. The veno-arterial mode of extracorporeal membrane oxygenation was initiated immediately. She was successfully resuscitated but with impaired cognitive function. Thus, urgent ECMO should be considered when amniotic fluid embolism syndrome is suspected in patients presenting acute cardiopulmonary collapse.

  6. Unusual presentation of Klinefelter syndrome

    Science.gov (United States)

    Das, Chanchal; Sahana, Pranab Kumar; Sengupta, Nilanjan; Roy, Mukut; Dasgupta, Ranen

    2013-01-01

    Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. Case Note: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. Karyotyping showed 47,XXY. Conclusion: This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease PMID:24910838

  7. Catastrophic antiphospholipid syndrome and pulmonary embolism in a 3-year-old child

    International Nuclear Information System (INIS)

    Olivier, Carine; Blondiaux, Eleonore; Dacher, Jean-Nicolas; Blanc, Thierry; Borg, Jeanne-Yvonne

    2006-01-01

    We report a rare example of catastrophic antiphospholipid syndrome (CAPS) in a young child. A 3-year-old girl with no previous medical history presented with extensive and recurrent thromboses. The diagnosis of CAPS was based on the occurrence of cardiopulmonary embolism in the child with a high titre of autoantibodies directed against phospholipids and beta-2-glycoprotein 1. In spite of a relatively rapid diagnosis and multiple treatments, the outcome was unfavourable. Multimodality imaging, including both ultrasonography and spiral CT, allowed close follow-up of the thromboses. (orig.)

  8. Catastrophic antiphospholipid syndrome and pulmonary embolism in a 3-year-old child

    Energy Technology Data Exchange (ETDEWEB)

    Olivier, Carine; Blondiaux, Eleonore; Dacher, Jean-Nicolas [University Hospital of Rouen, Department of Radiology, Rouen (France); Blanc, Thierry [University Hospital of Rouen, Department of Neonatal Medicine, Rouen (France); Borg, Jeanne-Yvonne [University Hospital of Rouen, Haematology Laboratory, Rouen (France)

    2006-08-15

    We report a rare example of catastrophic antiphospholipid syndrome (CAPS) in a young child. A 3-year-old girl with no previous medical history presented with extensive and recurrent thromboses. The diagnosis of CAPS was based on the occurrence of cardiopulmonary embolism in the child with a high titre of autoantibodies directed against phospholipids and beta-2-glycoprotein 1. In spite of a relatively rapid diagnosis and multiple treatments, the outcome was unfavourable. Multimodality imaging, including both ultrasonography and spiral CT, allowed close follow-up of the thromboses. (orig.)

  9. Atypical presentations of Wolframs syndrome

    Directory of Open Access Journals (Sweden)

    S Saran

    2012-01-01

    Full Text Available Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.

  10. The clinical value of pulmonary perfusion imaging complicated with pulmonary embolism in children of nephrotic syndrome

    International Nuclear Information System (INIS)

    Lin Jun; Chen Ning; Miao Weibing; Peng Jiequan; Jiang Zhihong; Wu Jing

    2001-01-01

    To investigate the clinical features of complicated with pulmonary embolism nephrotic syndrome in children. 99m Tc-MAA pulmonary perfusion imaging was performed on 30 nephrotic syndrome in children with elevated plasma D-dimer. Results shown that 14 of 30 patients were found to have pulmonary embolism (46.7%). Pulmonary perfusion imaging showed an involvement of 1 pulmonary segment in 3 cases, 2 segments in 2 cases and over 3 segments in other 9 cases. Among them, there were 7 segments involved in one case. After two weeks of heparin anti-coagulative therapy, most cases showed a recovery. The result of this study suggested that pulmonary embolism is a common complication of nephrotic syndrome. Pulmonary perfusion imaging is simple, effective and accurate method for the diagnosis of pulmonary embolism, and it also can help to assess the value of clinical therapy

  11. Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome.

    Science.gov (United States)

    Küçüktaşçi, Kazim; Semiz, Serap; Balci, Yasemin Işik; Özsari, Tamer; Gürses, Dolunay; Önem, Gökhan; Saçar, Mustafa; Düzcan, Füsun; Yüksel, Doğangün; Semiz, Ender

    2016-10-01

    Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject. Thrombus identified in the right atrium using echocardiography was treated by emergency thrombectomy. Homozygous mutation in the methylenetetrahydrofolate reductase gene C677T, heterozygous factor-V Leiden mutation, and active protein C resistance were identified in the patient. The patient was lost because of a recurring episode of pulmonary embolism on the 86th day of hospitalization. We present this case to highlight the need for investigating hereditary thrombosis risk factors in diabetic patients in whom thromboembolism develops.

  12. Embolization of Life-Threatening Arterial Rupture in Patients with Vascular Ehlers–Danlos Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Okada, Takuya, E-mail: okabone@gmail.com [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Interventional Radiology Department (France); Frank, Michael, E-mail: michael.frank@egp.aphp.fr [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Rare Vascular Diseases Reference Center (France); Pellerin, Olivier, E-mail: olivier@pellerin.as; Primio, Massimiliano Di, E-mail: massimiliano.di.primio@gmail.com; Angelopoulos, Georgios, E-mail: giorginos78@msn.com [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Interventional Radiology Department (France); Boughenou, Marie-Fazia, E-mail: marie-fazia.boughenou@egp.aphp.fr [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Anesthesia and Surgical Intensive Care Unit (France); Pagny, Jean-Yves, E-mail: jean-yves.pagny@egp.aphp.fr [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Interventional Radiology Department (France); Messas, Emmanuel, E-mail: emmanuel.messas@egp.aphp.fr [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Rare Vascular Diseases Reference Center (France); Sapoval, Marc, E-mail: marc.sapoval2@egp.aphp.fr [Assistance Publique des Hôpitaux de Paris, Georges Pompidou European Hospital, Interventional Radiology Department (France)

    2013-05-09

    PurposeTo evaluate the safety and efficacy of transarterial embolization of life-threatening arterial rupture in patients with vascular Ehlers–Danlos syndrome (vEDS) in a single tertiary referral center.MethodsWe retrospectively analyzed transarterial embolization for vEDS performed at our institution from 2000 to 2012. The indication of embolization was spontaneous arterial rupture or pseudoaneurysm with acute bleeding. All interventions used a percutaneous approach through a 5F or less introducer sheath. Embolic agents were microcoils and glue in 3 procedures, glue alone in 2, and microcoils alone in 2.ResultsFive consecutive vEDS patients were treated by 7 embolization procedures (4 women, mean age 29.8 years). All procedures were successfully performed. Two patients required a second procedure for newly arterial lesions at a different site from the first procedure. Four of the five patients were still alive after a mean follow-up of 19.4 (range 1–74.7) months. One patient died of multiple organ failure 2 days after procedure. Minor procedural complications were observed in 3 procedures (43 %), all directly managed during the same session. Remote arterial lesions occurred after 3 procedures (43 %); one underwent a second embolization, and the other 2 were observed conservatively. Puncture site complication was observed in only one procedure (14 %).ConclusionEmbolization for vEDS is a safe and effective method to manage life-threatening arterial rupture.

  13. Embolization of Life-Threatening Arterial Rupture in Patients with Vascular Ehlers–Danlos Syndrome

    International Nuclear Information System (INIS)

    Okada, Takuya; Frank, Michael; Pellerin, Olivier; Primio, Massimiliano Di; Angelopoulos, Georgios; Boughenou, Marie-Fazia; Pagny, Jean-Yves; Messas, Emmanuel; Sapoval, Marc

    2014-01-01

    PurposeTo evaluate the safety and efficacy of transarterial embolization of life-threatening arterial rupture in patients with vascular Ehlers–Danlos syndrome (vEDS) in a single tertiary referral center.MethodsWe retrospectively analyzed transarterial embolization for vEDS performed at our institution from 2000 to 2012. The indication of embolization was spontaneous arterial rupture or pseudoaneurysm with acute bleeding. All interventions used a percutaneous approach through a 5F or less introducer sheath. Embolic agents were microcoils and glue in 3 procedures, glue alone in 2, and microcoils alone in 2.ResultsFive consecutive vEDS patients were treated by 7 embolization procedures (4 women, mean age 29.8 years). All procedures were successfully performed. Two patients required a second procedure for newly arterial lesions at a different site from the first procedure. Four of the five patients were still alive after a mean follow-up of 19.4 (range 1–74.7) months. One patient died of multiple organ failure 2 days after procedure. Minor procedural complications were observed in 3 procedures (43 %), all directly managed during the same session. Remote arterial lesions occurred after 3 procedures (43 %); one underwent a second embolization, and the other 2 were observed conservatively. Puncture site complication was observed in only one procedure (14 %).ConclusionEmbolization for vEDS is a safe and effective method to manage life-threatening arterial rupture

  14. Blue toe syndrome treated with sympathectomy in a patient with acute renal failure caused by cholesterol embolization

    Directory of Open Access Journals (Sweden)

    Min-Gang Kim

    2013-12-01

    Full Text Available Blue toe syndrome is the most frequent manifestation of tissue ischemia caused by cholesterol embolization (CE, which can lead to amputation of affected lower extremities, if severe. However, any effective treatment is lacking. We experienced a case of spontaneously presenting blue toe syndrome and concomitant acute renal failure in a patient with multiple atherosclerotic risk factors. CE was confirmed by renal biopsy. Despite medical treatment including prostaglandin therapy and narcotics, the toe lesion progressed to gangrene with worsening ischemic pain. Therefore, we performed lumbar sympathectomy, which provided dramatic pain relief as well as an adequate blood flow to the ischemic lower extremities, resulting in healing of the gangrenous lesion and avoiding toe amputation. This is the first reported case of a patient with intractable ischemic toe syndrome caused by CE that was treated successfully by sympathectomy. Our observations suggest that sympathectomy may be beneficial in some patients with CE-associated blue toe syndrome.

  15. Burning mouth syndrome: Present perspective

    OpenAIRE

    Ramesh Parajuli

    2015-01-01

    Introduction: Burning mouth syndrome is characterized by chronic oral pain or burning sensation affecting the oral mucosa in the absence of obvious visible mucosal lesions. Patient presenting with the burning mouth sensation or pain is frequently encountered in clinical practice which poses a challenge to the treating clinician. Its exact etiology remains unknown which probably has multifactorial origin. It often affects middle or old age women and it may be accompanied by xerostomia and alte...

  16. Choriocarcinoma as cause of pulmonary embolism: Presentation of a case

    International Nuclear Information System (INIS)

    Medina Gonzalez, Maria Elena; Rodriguez Reyna, Juan Carlos; Nip Fabero, Olga J

    2009-01-01

    This is the case of a 21 years old, black, female patient admitted at the Teaching Territorial Hospital of Cardenas 'Dr Julio M Aristegui Villamil' presenting breathlessness, dry cough, without expectoration, no fever and affection of the general status. She died a week after the admission in a picture of arrhythmia . The conclusion of the necropsy was pulmonary thromboembolism of tumor origin (choriocarcinoma) in both pulmonary arteries

  17. Dissecting Vertebral Artery Aneurysm Presenting Regrowth After Stent-Assisted Coil Embolization in Acute Stage.

    Science.gov (United States)

    Hijikata, Takamichi; Baba, Eiichi; Shirokane, Kazutaka; Tsuchiya, Atsushi; Nomura, Motohiro

    2018-06-01

    For a case of dissecting vertebral artery aneurysm (DVAA) in a dominant vertebral artery (VA) or posterior inferior cerebellar artery (PICA)-involving lesion, stent-assisted coil embolization (SACE) is an effective technique to preserve blood flow of the VA. A 41-year-old man presented with subarachnoid hemorrhage. Angiography demonstrated DVAA on the left VA just distal to the PICA, and the right VA was thinner than the left. For this case, SACE was performed to preserve the left VA and PICA. On the 10th day, angiography showed recurrence of the dissection. The dissected portion had thickened and extended to both distal and proximal sides involving the PICA origin and proximal portion to the PICA. A second endovascular embolization was performed and the recurrent dissecting aneurysm was embolized including the main VA cavity. In cases of DVAA, there is a possibility of recurrence after SACE, if a dissecting cavity remains unembolized. Therefore, total embolization is necessary under close observation from multiple angles, including the down-the-barrel view.

  18. Waardenburg syndrome presenting with constipation since birth.

    Science.gov (United States)

    Gupta, R; Sharma, S B; Mathur, P; Agrawal, L D

    2014-12-01

    Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung's disease. A 10-day-old full-term male neonate of Waardenburg syndrome presented with constipation since birth along with features of small bowel obstruction. Exploratory laparotomy revealed distended proximal jejunal and ileal loops along with microcolon; an ileostomy was performed. Postoperatively patient developed sepsis and died. Histopathology confirmed total colonic aganglionosis. Suspect familial Shah-Waardenburg syndrome in a neonate of Waardenburg syndrome presenting with constipation since birth or intestinal obstruction.

  19. Unusual Presentation of Recurrent Pyogenic Bilateral Psoas Abscess Causing Bilateral Pulmonary Embolism by Iliac Vein Compression

    OpenAIRE

    Ijaz, Mohsin; Sakam, Sailaja; Ashraf, Umair; Marquez, Jose Gomez

    2015-01-01

    Patient: Male, 47 Final Diagnosis: Bilateral psoas abscess • acute lower extremity deep vein thrombosis • bilateral pulmonary embolism Symptoms: Progressive left leg swelling • productive cough with whitish sputum • right flank pain Medication: Antibiotics and anticoagulation Clinical Procedure: CT-guided percutaneous drain placement Specialty: Internal Medicine/Critical Care Objective: Unusual presentation Background: Psoas abscesses are a known cause of back pain, but they have not been rep...

  20. Isolated transient aphasia at emergency presentation is associated with a high rate of cardioembolic embolism.

    Science.gov (United States)

    Wasserman, Jason K; Perry, Jeffrey J; Dowlatshahi, Dar; Stotts, Grant; Sivilotti, Marco L A; Worster, Andrew; Emond, Marcel; Sutherland, Jane; Stiell, Ian G; Sharma, Mukul

    2015-11-01

    A cardiac source is often implicated in strokes where the deficit includes aphasia. However, less is known about the etiology of isolated aphasia during transient ischemic attack (TIA). Our objective was to determine whether patients with isolated aphasia are likely to have a cardioembolic etiology for their TIA. We prospectively studied a cohort of TIA patients in eight tertiary-care emergency departments. Patients with isolated aphasia were identified by the treating physician at the time of emergency department presentation. Patients with dysarthria (i.e., a phonation disturbance) were not included. Potential cardiac sources for embolism were defined as atrial fibrillation on history, electrocardiogram, Holter monitor, atrial fibrillation on echocardiography, or thrombus on echocardiography. Of the 2,360 TIA patients identified, 1,155 had neurological deficits at the time of the emergency physician assessment and were included in this analysis, and 41 had isolated aphasia as their only neurological deficit. Patients with isolated aphasia were older (73.9±10.0 v. 67.2±14.5 years; p=0.003), more likely to have a history of heart failure (9.8% v. 2.6%; p=0.027), and were twice as likely to have any cardiac source of embolism (22.0% v. 10.6%; p=0.037). Isolated aphasia is associated with a high rate of cardioembolic sources of embolism after TIA. Emergency patients with isolated aphasia diagnosed with a TIA warrant a rapid and thorough assessment for a cardioembolic source.

  1. Renal Artery Embolization of Perirenal Hematoma in Hemorrhagic Fever with Renal Syndrome: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Hee Seok; Lee, Yong Seok; Lim, Ji Hyon; Kim, Kyung Soo; Yoon, Yup [Dongguk University College of Medicine, Goyang (Korea, Republic of); Hwang, Jae Cheol [Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan (Korea, Republic of)

    2007-08-15

    Hemorrhagic fever with renal syndrome (HFRS) is an acute viral disease characterized by fever, hemorrhage and renal failure. Among the various hemorrhagic complications of HFRS, spontaneous rupture of the kidney and perirenal hematoma are very rare findings. We report here on a case of HFRS complicated by massive perirenal hematoma, and this was treated with transcatheter arterial embolization. Hemorrhagic fever with renal syndrome (HFRS) is an acute infectious disease caused by hantavirus. HFRS is clinically characterized by fever, renal failure and hemorrhage in organs such as lung, kidney, spleen and the pituitary gland. Renal medullary hemorrhage is a well-known complication in the kidney, but spontaneous rupture of the kidney and perirenal hematoma in HFRS is rare, and patients showing continuous bleeding and massive perirenal hematoma have often been surgically treated. We report here on a case of HFRS complicated by massive perirenal hematoma, and the patient was treated with transcatheter arterial embolization. In summary, spontaneous rupture of the kidney and perirenal hematoma is a rare complication of HFRS. We report here on a case of HFRS that caused massive perirenal hematoma, and this was treated with superselective renal artery embolization.

  2. Renal Artery Embolization of Perirenal Hematoma in Hemorrhagic Fever with Renal Syndrome: A Case Report

    International Nuclear Information System (INIS)

    Choi, Hee Seok; Lee, Yong Seok; Lim, Ji Hyon; Kim, Kyung Soo; Yoon, Yup; Hwang, Jae Cheol

    2007-01-01

    Hemorrhagic fever with renal syndrome (HFRS) is an acute viral disease characterized by fever, hemorrhage and renal failure. Among the various hemorrhagic complications of HFRS, spontaneous rupture of the kidney and perirenal hematoma are very rare findings. We report here on a case of HFRS complicated by massive perirenal hematoma, and this was treated with transcatheter arterial embolization. Hemorrhagic fever with renal syndrome (HFRS) is an acute infectious disease caused by hantavirus. HFRS is clinically characterized by fever, renal failure and hemorrhage in organs such as lung, kidney, spleen and the pituitary gland. Renal medullary hemorrhage is a well-known complication in the kidney, but spontaneous rupture of the kidney and perirenal hematoma in HFRS is rare, and patients showing continuous bleeding and massive perirenal hematoma have often been surgically treated. We report here on a case of HFRS complicated by massive perirenal hematoma, and the patient was treated with transcatheter arterial embolization. In summary, spontaneous rupture of the kidney and perirenal hematoma is a rare complication of HFRS. We report here on a case of HFRS that caused massive perirenal hematoma, and this was treated with superselective renal artery embolization

  3. Embolization of the Systemic Arterial Supply via a Detachable Silicon Balloon in a Child with Scimitar Syndrome

    International Nuclear Information System (INIS)

    Sahin, Sinan; Celebi, Ahmet; Yalcin, Yalim; Saritas, Mustafa; Bilal, Mehmet S.; Celik, Levent

    2005-01-01

    Scimitar syndrome is a rare congenital disorder. It is characterized by partial or total abnormal venous drainage of the right lung into the inferior vena cava, which is often associated with anomalous systemic arterial supply to the right lung, congenital cardiac anomalies, hypoplasia of the right lung and bronchial anomalies. Symptoms depend on the degree of the shunt and severity of the associated anomalies, which determine the treatment. We present a 6-year-old boy who was diagnosed as having the adult form of scimitar syndrome during evaluation for recurrent pulmonary infections, and underwent embolization with a detachable silicon balloon of the anomalous systemic arterial supply from the abdominal aorta to the right lower lung lobe. Successful elective surgery was performed 6 months later, in which right pulmonary veins were directed to the left atrium using a Gore-Tex patch by creating an intra-atrial tunnel. The patient has been symptom-free period during 6 months of follow-up, which supports the idea that recurrent pulmonary infections can be eliminated by embolization of the anomalous arterial supply

  4. Transcatheter ovarian vein embolization for pelvic congestion syndrome: short-term outcome

    Energy Technology Data Exchange (ETDEWEB)

    Park, Ji Seon; Oh, Joo Hyeong; Yoon, Yup; Huh, Joo Yup [College of Medicine, Kyunghee Univ., Seoul (Korea, Republic of); Jeong, Yu Mee [College of Medicine, Dongguk Univ., Seoul (Korea, Republic of)

    2002-04-01

    To evaluate the short-term therapeutic effectiveness of ovarian vein embolization using coils for pelvic congestion syndrome (PCS), a common cause of chronic pelvic pain, and to determine patient satisfaction. Forty-four multiparous women aged 26-73 (mean, 39.9) years in whom chronic pelvic pain due to unknown causes had lasted for more than six months, and whose gynecologic findings and laboratory data suggested PCS, underwent transabdominal or transvaginal ultrasonography and selective ovarian venography. PSC was finally diagnosed in 21 of th 44, who underwent 22 ovarian vein embolizations (in one case, bilaterally). The simple pain rating system was used at admission, with a 'minimal' or 'moderate' grade representing discomfort in daily life, and 'severe; indicating the need for medication. Indications for coil embolization included dilatation of the ovarian vein to a diameter of more than 6 mm, reflux involving an incompetent valve, congestion of the pelvic venous plexus (involving the stasis of contrast media), and /or opacification of the ipsilateral internal iliac vein (or contralateral filling). Embolizations were undertaken using coils of optimal size and number, and the mean follow-up period was 217 (31-267) days. By means of a telephone questionnaire, the outcome was classified as a cure, pain reduction, or 'no change, or aggravation', and on the basis of whether or not they would opt for the same treatment, or recommend embolization to others, patient satisfaction was graded as 'substantial', 'moderate', or 'absent'. Venous occlusion was confirmed at postembolization venography in all 22 cases. Clinical treatment led to symptomatic relief in 76.2% of patients a cure in 33.3%(7/21), pain reduction in 42.9%(9/21) and no imchage, or aggravation, in 23.8%(5/21). Eighteen patients (85.5%) were very (9/21, 42.9%) or moderately (9/21, 42.9%) satisfied with coil embolization. In two, the coil

  5. Transcatheter ovarian vein embolization for pelvic congestion syndrome: short-term outcome

    International Nuclear Information System (INIS)

    Park, Ji Seon; Oh, Joo Hyeong; Yoon, Yup; Huh, Joo Yup; Jeong, Yu Mee

    2002-01-01

    To evaluate the short-term therapeutic effectiveness of ovarian vein embolization using coils for pelvic congestion syndrome (PCS), a common cause of chronic pelvic pain, and to determine patient satisfaction. Forty-four multiparous women aged 26-73 (mean, 39.9) years in whom chronic pelvic pain due to unknown causes had lasted for more than six months, and whose gynecologic findings and laboratory data suggested PCS, underwent transabdominal or transvaginal ultrasonography and selective ovarian venography. PSC was finally diagnosed in 21 of th 44, who underwent 22 ovarian vein embolizations (in one case, bilaterally). The simple pain rating system was used at admission, with a 'minimal' or 'moderate' grade representing discomfort in daily life, and 'severe; indicating the need for medication. Indications for coil embolization included dilatation of the ovarian vein to a diameter of more than 6 mm, reflux involving an incompetent valve, congestion of the pelvic venous plexus (involving the stasis of contrast media), and /or opacification of the ipsilateral internal iliac vein (or contralateral filling). Embolizations were undertaken using coils of optimal size and number, and the mean follow-up period was 217 (31-267) days. By means of a telephone questionnaire, the outcome was classified as a cure, pain reduction, or 'no change, or aggravation', and on the basis of whether or not they would opt for the same treatment, or recommend embolization to others, patient satisfaction was graded as 'substantial', 'moderate', or 'absent'. Venous occlusion was confirmed at postembolization venography in all 22 cases. Clinical treatment led to symptomatic relief in 76.2% of patients a cure in 33.3%(7/21), pain reduction in 42.9%(9/21) and no imchage, or aggravation, in 23.8%(5/21). Eighteen patients (85.5%) were very (9/21, 42.9%) or moderately (9/21, 42.9%) satisfied with coil embolization. In two, the coil migrated, and was successfully retrieved using a snare loop. In this

  6. Metabolic syndrome presenting as abdominal pain

    Directory of Open Access Journals (Sweden)

    Mohammed Y Al-Dossary

    2017-01-01

    Full Text Available Metabolic syndrome represents a sum of risk factors that lead to the occurrence of cardiovascular and cerebrovascular events. The early detection of metabolic syndrome is extremely important in adults who are at risk. Although the physiopathological mechanisms of the metabolic syndrome are not yet clear, insulin resistance plays a key role that could explain the development of type 2 diabetes mellitus in untreated metabolic syndrome patients. Here, we present the case of a 26-year-old male who was diagnosed with metabolic syndrome and severe hypertriglyceridemia after presenting with abdominal pain. Although hypertriglyceridemia and hyperglycemia are the most common predictors of metabolic syndrome, clinicians need to be vigilant for unexpected presentations in patients at risk for metabolic syndrome. This case sheds light on the importance of early detection.

  7. Fat embolism syndrome in femoral shaft fractures: does the initial treatment make a difference?

    Directory of Open Access Journals (Sweden)

    Janio Jose Alves Bezerra Silva

    Full Text Available ABSTRACT Objective: To identify the risk factors correlated with the initial treatment performed. Methods: This is a retrospective study involving a total of 272 patients diagnosed with femoral shaft fractures. Of the patients, 14% were kept at rest until the surgical treatment, 52% underwent external fixation, 10% received immediate definitive treatment, and 23% remained in skeletal traction (23% until definitive treatment., Results: There were six cases of fat embolism syndrome (FES, which showed that , polytrauma is the main risk factor for its development and that initial therapy was not important. Conclusion: Polytrauma patients have a greater chance of developing FES and there was no influence from the initial treatment.

  8. A rare presentation of Klippel-Trenaunay syndrome

    Directory of Open Access Journals (Sweden)

    Tanweer Karim

    2014-01-01

    Full Text Available The Klippel-Trenaunay syndrome (KTS is a congenital disorder characterized by capillary malformation, varicosities and bony and soft tissue hypertrophy. This disease has several morbidities like bleeding, deep venous thrombosis, embolic complications and in some cases enlargement of limb that may require amputation. Vascular malformations are segmented and never cross midline. However, we came across a case, a 45-year-old male, who presented with varicosity of veins and deformity of left lower limb besides cavernous hemangiomas (port-wine stains scattered all over his face, chest, back, gluteal region, groin and legs since birth. Multiple paravertebral soft tissue masses and bladder hypertrophy were also noted due to involving neurofibromatosis. Simultaneous occurrence of KTS and neurofibromatosis is rarely seen in clinical practice.

  9. Embolization as an Alternative Treatment of Insulinoma in a Patient with Multiple Endocrine Neoplasia Type 1 Syndrome

    International Nuclear Information System (INIS)

    Peppa, Melpomeni; Brountzos, Elias; Economopoulos, Nicolaos; Boutati, Eleni; Pikounis, Vasilios; Patapis, Paul; Economopoulos, Theofanis; Raptis, Sotirios A.; Hadjidakis, Dimitrios

    2009-01-01

    Insulinoma is a rare neuroendocrine tumor, most commonly originating from the pancreas, which is either sporadic or familial as a component of multiple endocrine neoplasia type 1 syndrome (MEN1). It is characterized by increased insulin secretion leading to hypoglycemia. Surgical removal is considered the treatment of choice, with limited side effects and relatively low morbidity and mortality, both being improved by the laparoscopic procedure. We present the case of a 30-year-old patient with MEN1 and recurrent insulinoma with severe hypoglycemic episodes who could not be surgically treated due to the adherence of the tumor to large blood vessels and to prior multiple surgical operations. He was treated by repeated embolization using spherical polyvinyl alcohol particles, resulting in shrinkage of the tumor, improvement of the frequency and severity of the hypoglycemic episodes, and better quality of life.

  10. Clinical presentation and in-hospital death in acute pulmonary embolism: does cancer matter?

    Science.gov (United States)

    Casazza, Franco; Becattini, Cecilia; Rulli, Eliana; Pacchetti, Ilaria; Floriani, Irene; Biancardi, Marco; Scardovi, Angela Beatrice; Enea, Iolanda; Bongarzoni, Amedeo; Pignataro, Luigi; Agnelli, Giancarlo

    2016-09-01

    Cancer is one of the most common risk factors for acute pulmonary embolism (PE), but only few studies report on the short-term outcome of patients with PE and a history of cancer. The aim of the study was to assess whether a cancer diagnosis affects the clinical presentation and short-term outcome in patients hospitalized for PE who were included in the Italian Pulmonary Embolism Registry. All-cause and PE-related in-hospital deaths were also analyzed. Out of 1702 patients, 451 (26.5 %) of patients had a diagnosis of cancer: cancer was known at presentation in 365, or diagnosed during the hospital stay for PE in 86 (19 % of cancer patients). Patients with and without cancer were similar concerning clinical status at presentation. Patients with cancer less commonly received thrombolytic therapy, and more often had an inferior vena cava filter inserted. Major or intracranial bleeding was not different between groups. In-hospital all-cause death occurred in 8.4 and 5.9 % of patients with and without cancer, respectively. At multivariate analysis, cancer (OR 2.24, 95 % CI 1.27-3.98; P = 0.006) was an independent predictor of in-hospital death. Clinical instability, PE recurrence, age ≥75 years, recent bed rest ≥3 days, but not cancer, were independent predictors of in-hospital death due to PE. Cancer seems a weaker predictor of all-cause in-hospital death compared to other factors; the mere presence of cancer, without other risk factors, leads to a probability of early death of 2 %. In patients with acute PE, cancer increases the probability of in-hospital all-cause death, but does not seem to affect the clinical presentation or the risk of in-hospital PE-related death.

  11. Predicting in-hospital death during acute presentation with pulmonary embolism to facilitate early discharge and outpatient management.

    Directory of Open Access Journals (Sweden)

    Jerrett K Lau

    Full Text Available Pulmonary embolism continues to be a significant cause of death. The aim was to derive and validate a risk prediction model for in-hospital death after acute pulmonary embolism to identify low risk patients suitable for outpatient management.A confirmed acute pulmonary embolism database of 1,426 consecutive patients admitted to a tertiary-center (2000-2012 was analyzed, with odd and even years as derivation and validation cohorts respectively. Risk stratification for in-hospital death was performed using multivariable logistic-regression modelling. Models were compared using receiver-operating characteristic-curve and decision curve analyses.In-hospital mortality was 3.6% in the derivation cohort (n = 693. Adding day-1 sodium and bicarbonate to simplified Pulmonary Embolism Severity Index (sPESI significantly increased the C-statistic for predicting in-hospital death (0.71 to 0.86, P = 0.001. The validation cohort yielded similar results (n = 733, C-statistic 0.85. The new model was associated with a net reclassification improvement of 0.613, and an integrated discrimination improvement of 0.067. The new model also increased the C-statistic for predicting 30-day mortality compared to sPESI alone (0.74 to 0.83, P = 0.002. Decision curve analysis demonstrated superior clinical benefit with the use of the new model to guide admission for pulmonary embolism, resulting in 43 fewer admissions per 100 presentations based on a risk threshold for admission of 2%.A risk model incorporating sodium, bicarbonate, and the sPESI provides accurate risk prediction of acute in-hospital mortality after pulmonary embolism. Our novel model identifies patients with pulmonary embolism who are at low risk and who may be suitable for outpatient management.

  12. Primary antiphospholipid syndrome presenting with homonymous quadrantanopsia.

    Science.gov (United States)

    Yang, Hee Kyung; Moon, Ki Won; Ji, Min Jung; Han, Sang Beom; Hwang, Jeong-Min

    2018-06-01

    To report a case of primary antiphospholipid syndrome presenting with isolated homonymous superior quadrantanopsia. A 50-year-old Korean man presented with subjective visual disturbance for 1 month. Visual field testing showed a right homonymous superior quadrantanopsia. Brain magnetic resonance imaging (MRI) revealed an old infarct in his left occipital lobe and multiple lesions in other areas of the brain. Laboratory tests showed a marked increase in serum anti-β2 glycoprotein I antibody, which remained elevated after 12 weeks. He was diagnosed with primary antiphospholipid syndrome and started anticoagulation therapy. This is the first case report of primary antiphospholipid syndrome presenting with isolated homonymous quadrantanopsia. Antiphospholipid syndrome should be considered as a differential diagnosis in patients with homonymous visual field defects accompanying multiple cerebral infarcts.

  13. Impact of delay in clinical presentation on the diagnostic management and prognosis of patients with suspected pulmonary embolism

    NARCIS (Netherlands)

    Den Exter, Paul L.; Van Es, Josien; Erkens, Petra M.G.; Van Roosmalen, Mark J.G.; Van Den Hoven, Pim; Hovens, Marcel M.C.; Kamphuisen, Pieter W.; Klok, Frederikus A.; Huisman, Menno V.

    2013-01-01

    Rationale: The nonspecific clinical presentation of pulmonary embolism (PE) frequently leads to delay in its diagnosis. Objectives: This study aimed to assess the impact of delay in presentation on the diagnostic management and clinical outcome of patients with suspected PE. Methods: In 4,044

  14. Impact of delay in clinical presentation on the diagnostic management and prognosis of patients with suspected pulmonary embolism

    NARCIS (Netherlands)

    Den Exter, P. L.; Van Es, J.; Erkens, P. G. M.; Roosmalen, M.; Hoven, P.; Hovens, M.; Kamphuisen, P. W.; Klok, F. A.; Huisman, M.

    Background: The non-specific clinical presentation of pulmonary embolism (PE) frequently leads to delay in its diagnosis. Aims: To assess the impact of delay in presentation on the diagnostic management and clinical outcome of patients with suspected PE. Methods: For this post-hoc analysis, we used

  15. Pulmonary embolism in the elderly: a review on clinical, instrumental and laboratory presentation

    Directory of Open Access Journals (Sweden)

    Luca Masotti

    2008-06-01

    Full Text Available Luca Masotti1,8, Patrick Ray2, Marc Righini3, Gregoire Le Gal4, Fabio Antonelli5, Giancarlo Landini1, Roberto Cappelli6, Domenico Prisco7, Paola Rottoli81Internal Medicine, Cecina Hospital, Cecina, Italy; 2Department of Emergency Medicine, Centre Hospitalo-Universitaire Pitié-Salpêtrière, Université Pierre et Marie Curie-Paris 6, Paris, France; 3Division of Angiology and Hemostasis, Geneva University Hospital and Faculty of Medicine, Geneva, Switzerland; 4Department of Internal Medicine and Chest Diseases, Brest University Hospital, Brest, France; 5Clinical Chemistry, Cecina Hospital, Cecina, Italy; 6Department of Internal, Cardiovascular and Geriatric Medicine, University of Siena, Siena, Italy; 7Department of Critical Care Medicine, Thrombosis Centre, Careggi Hospital, Florence, Italy; 8Departiment of Clinical Medicine and Immunological Sciences, Division of Respiratory Diseases, University of Siena, Siena, ItalyObjective: Diagnosis of pulmonary embolism (PE remains difficult and is often missed in the elderly due to nonspecific and atypical presentation. Diagnostic algorithms able to rule out PE and validated in young adult patients may have reduced applicability in elderly patients, which increases the number of diagnostic tools use and costs. The aim of the present study was to analyze the reported clinical presentation of PE in patients aged 65 and more.Materials and Methods: Prospective and retrospective English language studies dealing with the clinical, instrumental and laboratory aspects of PE in patients more than 65 and published after January 1987 and indexed in MEDLINE using keywords as pulmonary embolism, elderly, old, venous thromboembolism (VTE in the title, abstract or text, were reviewed.Results: Dyspnea (range 59%–91.5%, tachypnea (46%–74%, tachycardia (29%–76%, and chest pain (26%–57% represented the most common clinical symptoms and signs. Bed rest was the most frequent risk factor for VTE (15%–67%; deep vein

  16. Metabolic syndrome pathophysiology and clinical presentation.

    Science.gov (United States)

    Handelsman, Yehuda

    2009-01-01

    Metabolic syndrome is a relatively new definition, designed to help the health care practitioner to easily identify people at risk for the development of cardiovascular disease and diabetes. With the obesity epidemic, we are witnessing an epidemic of multiple-risk patients. Insulin resistance is the perceived pathophysiology of metabolic syndrome and defines its clinical presentation. Hypertension, dyslipedemia, polycystic ovarian syndrome, fatty liver disease, pre-diabetes, sleep and breathing disorder, certain cancers, and cognitive impairment are many of the presentations of the syndrome; patients with any of these conditions are at a high risk of developing cardiovascular disease and diabetes. The metabolic syndrome helps identify people at risk to allow early intervention for prevention. Lifestyle modification is the most important part of the management of people with the syndrome. Lately medications--though none approved by the U.S. Food and Drug Administration (FDA)--have been recommended by major medical societies when lifestyle modification is not enough or when it fails.

  17. Xylem resistance to embolism: presenting a simple diagnostic test for the open vessel artefact.

    Science.gov (United States)

    Torres-Ruiz, José M; Cochard, Hervé; Choat, Brendan; Jansen, Steven; López, Rosana; Tomášková, Ivana; Padilla-Díaz, Carmen M; Badel, Eric; Burlett, Regis; King, Andrew; Lenoir, Nicolas; Martin-StPaul, Nicolas K; Delzon, Sylvain

    2017-07-01

    Xylem vulnerability to embolism represents an essential trait for the evaluation of the impact of hydraulics in plant function and ecology. The standard centrifuge technique is widely used for the construction of vulnerability curves, although its accuracy when applied to species with long vessels remains under debate. We developed a simple diagnostic test to determine whether the open-vessel artefact influences centrifuge estimates of embolism resistance. Xylem samples from three species with differing vessel lengths were exposed to less negative xylem pressures via centrifugation than the minimum pressure the sample had previously experienced. Additional calibration was obtained from non-invasive measurement of embolism on intact olive plants by X-ray microtomography. Results showed artefactual decreases in hydraulic conductance (k) for samples with open vessels when exposed to a less negative xylem pressure than the minimum pressure they had previously experienced. X-Ray microtomography indicated that most of the embolism formation in olive occurs at xylem pressures below -4.0 MPa, reaching 50% loss of hydraulic conductivity at -5.3 MPa. The artefactual reductions in k induced by centrifugation underestimate embolism resistance data of species with long vessels. A simple test is suggested to avoid this open vessel artefact and to ensure the reliability of this technique in future studies. © 2017 The Authors. New Phytologist © 2017 New Phytologist Trust.

  18. Primary Antiphospholipid Syndrome: Unusual Presentation in a ...

    African Journals Online (AJOL)

    A 72 year old man with a history of TIAs and stroke with unexplained moderately raised ESR presented a year later with rapid deterioration of vision in his left eye because of central retinal vein occlusion. Primary antiphospholipid syndrome is found in patients with history of arterial or venous thromboembolism, ...

  19. Symptomatology, Clinical Presentation and Basic Work up in Patients with Suspected Pulmonary Embolism

    DEFF Research Database (Denmark)

    Madsen, Poul Henning; Hess, Søren

    2017-01-01

    Basic knowledge of pulmonary embolism is relevant to most practicing physicians. Many medical specialties care for patients with increased risk of pulmonary embolism, why recognition of relevant symptoms, a thorough medical history, assessment of the clinical condition of the patient and possibly......-ray and biochemical analyses are appropriate. In addition, lung ultrasound and echocardiography are indicated in many of these patients. The information available from the medical history, clinical assessment and basic investigation form the basis on which the decision about further diagnostic imaging and intensity...... of treatment and monitoring can be made. These decisions can be guided by clinical scoring systems like the Wells score, revised Geneva score and the PESI....

  20. Fatal Peritoneal Bleeding Following Embolization of a Carotid-Cavernous Fistula in Ehlers-Danlos Syndrome Type IV

    International Nuclear Information System (INIS)

    Usinskiene, Jurgita; Mazighi, Mikael; Bisdorff, Annouk; Houdart, Emmanuel

    2006-01-01

    We report the case of a 25-year-old woman treated for a spontaneous carotid-cavernous fistula in a context of Ehlers-Danlos syndrome type IV. Embolization with a transvenous approach was achieved without complications; however, the patient died 72 hr later of massive intraperitoneal bleeding. At autopsy, no lesion of the digestive arteries was identified. Possible causes of this bleeding are discussed

  1. Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    K K Singh

    2015-01-01

    Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement. Renal involvement in various forms has been seen in BBS. Cases with nephrotic range proteinuria not responding to steroid have been described in this syndrome. Here we report a case of BBS who presented with nephrotic range proteinuria. The biopsy findings were suggestive of minimal change disease. The child responded well to steroid therapy and remains in remission.

  2. NEPHROTIC SYNDROME: PAST, PRESENT AND FUTURE

    Directory of Open Access Journals (Sweden)

    M. S. Ignatova

    2017-01-01

    Full Text Available This literature review is focused to change our ideas about the etiology, pathogenesis and treatment tactics of the nephrotic syndrome  in recent decades. The change in the treatment outcomes of the primary nephrotic syndrome in connection with the emergence of new  therapy technologies, is shown. Features of the course, examination and therapy of congenital and infantile nephrotic syndrome and  the possibility of the debut of a nephrotic syndrome associated with various gene mutations and at an older age are presented. Principal differences in diagnostic and therapeutic approaches are accentuated depending on the cause of the development of the disease.  Modern syndromological and pathogenetic methods of therapy of primary nephrotic syndrome are presented, and the immediate opportunities for the introduction of new treatment technologies based on the use of monoclonal antibodies, are shown.

  3. Intrapartum diagnostic of Roberts syndrome - case presentation.

    Science.gov (United States)

    Socolov, Răzvan Vladimir; Andreescu, Nicoleta Ioana; Haliciu, Ana Maria; Gorduza, Eusebiu Vlad; Dumitrache, Florentin; Balan, Raluca Anca; Puiu, Maria; Dobrescu, Mihaela Amelia; Socolov, Demetra Gabriela

    2015-01-01

    Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.

  4. Comparison of post-embolization syndrome in the treatment of patients with unresectable hepatocellular carcinoma: Trans-catheter arterial chemo-embolization versus Yttrium-90 glass microspheres

    International Nuclear Information System (INIS)

    Goin, J.E.; Roberts, C.A.; Dancey, J.E.; Sickles, C.J.; Leung, D.A.; Soulen, M.C.

    2004-01-01

    Post-embolization syndrome (PES) occurs in most patients who undergo trans-catheter arterial chemoembolization (TACE) for treatment of unresectable hepatocellular carcinoma (HCC). Intra-hepatic arterial administration of TheraSphere, yttrium-90 glass microspheres, is an alternative treatment for unresectable HCC that does not require embolization of major vessels and may have a more favorable toxicity profile than TACE. This paper compares the incidence of PES after TACE vs. TheraSphere treatment in unresectable HCC patients. Data for 29 TACE-treated and 34 TheraSphere-treated patients were evaluated for PES. PES toxicities (i.e., nausea, vomiting, fever in the absence of infection, and abdominal pain) were scored according to Southwest Oncology Group (SWOG) toxicity criteria. PES was defined as a total score for the four toxicities of 2 or greater. Survival was defined from the date of treatment to the date of death. TACE patients underwent one to seven treatment procedures; TheraSphere patients underwent one to two treatment procedures. The incidence of PES was 3.8-times (95% confidence interval 1.6-16.3) higher after TACE [20/29(69%)] than after TheraSphere [6/34 (18%)] treatment; this difference was statistically significant (p=.003). Median survival was similar for TheraSphere (N=20; 378 days, CI 209-719) and TACE (N=29; 343 days, CI 217-511) patients. It was concluded that treatment of unresectable HCC with TheraSphere results in a much lower incidence of PES compared to TACE. Since TheraSphere is a pure beta emitter; it can potentially be administered safely on an outpatient basis, and appears to be at least as efficacious as TACE on survival with fewer treatments per patient. (author)

  5. Antiphospholipid Antibody Syndrome Presenting with Hemichorea

    Directory of Open Access Journals (Sweden)

    Yezenash Ayalew

    2012-01-01

    Full Text Available A 25-year-old Bangladeshi lady presented to neurology with a three-month history of involuntary movements of her right arm, associated with loss of power. There was progression to the right leg, and she subsequently developed episodes of slurred speech and blurred vision. At the time of presentation, she was 12 weeks pregnant and the symptoms were reported to have started at conception. Past medical history was unremarkable apart from one first trimester miscarriage and there was no significant family history suggestive of a hereditary neurological condition. MRI of the head revealed no abnormalities but serology showed positive antinuclear antibodies (ANAs at a titre of 1/400. Further investigations revealed strongly positive anticardiolipin antibodies (>120 and positive lupus anticoagulant antibodies. The patient had a second miscarriage at 19 weeks gestation strengthening the possibility that the chorea was related to antiphospholipid antibody syndrome and she was started on a reducing dose of Prednisolone 40 mg daily and aspirin 300 mg daily. Six months later, she had complete resolution of neurological symptoms. There are several reports of chorea as a feature of antiphospholipid syndrome, but no clear consensus on underlying pathophysiology.

  6. Paradoxical cerebral air embolism

    International Nuclear Information System (INIS)

    Lopez-Negrete, L.; Garcia-Lozano, J.; Sanchez, J. L.; Sala, J.

    2000-01-01

    We present a fatal case of intracranial air embolism produced by the passage of intravenous air to the arteries owing to the existence of a patent foremen ovale associated with pulmonary hypertension, which permitted a right-left shunt (paradoxical embolism). The pathophysiological mechanisms of pneumcephalus and paradoxical embolism are discussed and the pertinent literature is reviewed. (Author) 6 refs

  7. Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia

    Directory of Open Access Journals (Sweden)

    Sung Won Lee

    2015-06-01

    Full Text Available Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.

  8. De morseir syndrome presenting as ambiguous genitalia.

    Science.gov (United States)

    Thukral, Anubhav; Chitra, S; Chakraborty, Partho P; Roy, Ajitesh; Goswami, Soumik; Bhattacharjee, Rana; Dutta, Deep; Maisnam, Indira; Ghosh, Sujoy; Mukherjee, Satinath; Chowdhury, Subhankar

    2012-12-01

    A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity. The patient was found to have bilateral cryptorchidism with proximal penile hypospadias, microphallus with a proportionate dwarfism with mildly delayed bone age, and karyotype 46XY. Euthyroid with normal steroid axis, growth hormone insufficient as suggested by auxology, low IGF1, and poor response to clonidine stimulation. MRI brain shows hypoplastic corpus callosum, hypoplastic anterior pituitary, and ectopic posterior pituitary bright spot. The patient underwent laparoscopic removal of right intrabdominal testis and orchidoplexy was performed on the left one. Testicular biopsy revealed no malignancy and growth hormone replacement was initiated. The patient awaits definitive repair of hypospadias. As a provisional diagnosis of combined growth hormone and gonadotropin deficiency, most probable diagnosis is septo-optic dysplasia or de moseir syndrome leading to genital ambiguity.

  9. Duane Syndrome. Presentation of a case.

    Directory of Open Access Journals (Sweden)

    Pedra Palmero Aragón

    2010-04-01

    Full Text Available It was carried out an observational descriptive prospective longitudinal study including the period from march 2008 till june 20, 2008 in the Ophthalmology Service of the Provincial Educational Pediatric Hospital: “José Martí Pérez” in Sancti Spiritus, with the objective to identify the clinical and epidemiological characteristics of a patient with Duane Syndrome who went to consultation without receiving previous ophthalmological attention, the diagnosis age was determined, which was tardy, bracket the most affected eye and the kind of Duane, and also if there was any refractive defect and the presence of amblyopia , identifying the criteria for being operated, for collecting data a format was completed by the specialists, which included observation, interrogatory, ophthalmological medical record of the ill person and pictures, these elements allowed us to make a correct analysis. With the previous information we arrived as a conclusion that is all about a patient with 28 years of age who lives in Sancti Spiritus Municipality, with White skin, male, carried on the Duane Syndrome type I, unilateral left. A light Hypermetropia was presented in both eyes as a refractive defect, accompanied by a light bilateral amplyopia in the right eye and moderate in the left eye. It is necessary to stay that the patient was under surgical criterium by esotropia of more than 15 degrees in PPM and unacceptable torticollis although the time of evolution; there were no difficulties related to the surgical act. The postoperative picture can reflect the result of the surgery.

  10. Cogan's syndrome: present and future directions.

    LENUS (Irish Health Repository)

    Murphy, Grainne

    2009-08-01

    Cogan\\'s syndrome, typified by the combination of interstitial keratitis and immune-mediated sensorineural hearing loss, is a rare condition, and commonly associated with a diagnostic delay. Using a standard search protocol, we review the literature to date, focusing on a number of key areas pertaining to diagnosis, presentation and treatment. Using a case illustration of atypical disease which led to fulminant aortic regurgitation, we highlight the need for continued and collaborative research in order to identify negative prognostic factors and thus tailor therapeutic regimens. Atypical Cogan\\'s syndrome is more commonly associated with systemic manifestations than typical disease, and may be refractory to immunosuppressive treatment. We discuss the application of laboratory (e.g antibodies targeting inner ear antigens) and radiological (PET-CT) aids to disease confirmation and detection of sub-clinical vascular inflammation. As illustrated by the included case description, some patients remain refractory to intense immunosuppression and delineation of adverse prognostic factors which may direct treatment, perhaps including the use of PET-CT, will contribute in the future to improving patient outcomes.

  11. [Embolic stroke by thrombotic non bacterial endocarditis in an Antiphospholipid Syndrome patient].

    Science.gov (United States)

    Graña, D; Ponce, C; Goñi, M; Danza, A

    2016-01-01

    The antiphospholipid syndrome (APS) is an acquired thrombophilia, considered a systemic autoimmune disorder. We report a patient with APS who presented multiple cerebral infarcts (stroke) as a complication of a thrombotic non bacterial endocarditis. We review the literature focused on the physiological mechanism that produce this disease and its complications. Clinical features and their prognostic value and the different therapeutic options were also studied.

  12. ANCA-Negative Churg-Strauss Syndrome Presenting as Acute Multiple Cerebral Infarcts: A Case Report.

    Science.gov (United States)

    Psychogios, Klearchos; Evmorfiadis, Ilias; Dragomanovits, Spyros; Stavridis, Athanasios; Takis, Konstantinos; Kaklamanis, Loukas; Stathis, Pantelis

    2017-03-01

    Eosinophilic granulomatosis with polyangiitis (EGPA, previously named Churg-Strauss syndrome) is a form of necrotizing vasculitis occurring in patients with asthma and eosinophilia. Ischemic stroke is a relatively rare complication of the disease. We report a case of a 63-year-old woman with multiple embolic infarcts, hypereosinophilia (for >7 years), and skin rash. Elevated cardiac enzymes and cardiac magnetic resonance imaging were consistent with endomyocarditis. The simultaneous presence of history of asthma, sinusitis, hypereosinophilia, and vasculitis led to the diagnosis of EGPA. This case contributes to the recent debate of the 2 possible presentations of the disease according to the ANCA (antineutrophil cytoplasmic antibodies) status. We furthermore underscore the need for careful differential diagnosis of the "ANCA negative" cases with persistent hypereosinophilia from the idiopathic hypereosinophilic syndrome. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  13. Fat embolism syndrome in long bone trauma following vehicular accidents: Experience from a tertiary care hospital in north India

    Directory of Open Access Journals (Sweden)

    Parvaiz A Koul

    2013-01-01

    Full Text Available Background: Fat embolism syndrome (FES is a clinical problem arising mainly due to fractures particularly of long bones and pelvis. Not much literature is available about FES from the Indian subcontinent. Materials and Methods: Thirty-five patients referred/admitted prospectively over a 3-year period for suspected FES to a north Indian tertiary care center and satisfying the clinical criteria proposed by Gurd and Wilson, and Schonfeld were included in the study. Clinical features, risk factors, complications, response to treatment and any sequelae were recorded. Results: The patients (all male presented with acute onset breathlessness, 36-120 hours following major bone trauma due to vehicular accidents. Associated features included features of cerebral dysfunction ( n = 24, 69%, petechial rash (14%, tachycardia (94% and fever (46%. Hypoxemia was demonstrable in 80% cases, thrombocytopenia in 91%, anemia in 94% and hypoalbuminemia in 59%. Bilateral alveolar infiltrates were seen on chest radiography in 28 patients and there was evidence of bilateral ground glass appearance in 5 patients on CT. Eleven patients required ventilatory assistance whereas others were treated with supportive management. Three patients expired due to associated sepsis and respiratory failure, whereas others recovered with a mean hospital stay of 9 days. No long term sequelae were observed. Conclusion: FES remains a clinical challenge and is a diagnosis of exclusion based only on clinical grounds because of the absence of any specific laboratory test. A high index of suspicion is required for diagnosis and initiating supportive management in patients with traumatic fractures, especially in those having undergone an invasive orthopedic procedure.

  14. De morseir syndrome presenting as ambiguous genitalia

    Directory of Open Access Journals (Sweden)

    Anubhav Thukral

    2012-01-01

    Full Text Available Background: A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity. Materials and Methods: The patient was found to have bilateral cryptorchidism with proximal penile hypospadias, microphallus with a proportionate dwarfism with mildly delayed bone age, and karyotype 46XY. Euthyroid with normal steroid axis, growth hormone insufficient as suggested by auxology, low IGF1, and poor response to clonidine stimulation. MRI brain shows hypoplastic corpus callosum, hypoplastic anterior pituitary, and ectopic posterior pituitary bright spot. Results: The patient underwent laparoscopic removal of right intrabdominal testis and orchidoplexy was performed on the left one. Testicular biopsy revealed no malignancy and growth hormone replacement was initiated. The patient awaits definitive repair of hypospadias. Conclusion: As a provisional diagnosis of combined growth hormone and gonadotropin deficiency, most probable diagnosis is septo-optic dysplasia or de moseir syndrome leading to genital ambiguity.

  15. Pelvic artery embolization in gynecological bleeding

    International Nuclear Information System (INIS)

    Hausegger, K.A.; Schreyer, H.; Bodhal, H.

    2002-01-01

    The most common reasons for gynecological bleeding are pregnancy-related disorders, fibroids of the uterus, and gynecological malignances. Transarterial embolization is an effective treatment modality for gynecological bleeding regardless of its etiology. Depending on the underlying disease, a different technique of embolization is applied. In postpartal bleeding a temporary effect of embolization is desired, therefore gelatine sponge is used as embolizing agent. In fibroids and malignant tumors the effect should permanent, therefore PVA particles are used. Regardless the etiology, the technical and clinical success of transarterial embolization is at least 90%. In nearly every patient a post-embolization syndrome can be observed, represented by local pain and fever. This post-embolization syndrome usually does not last longer than 3 days. If embolization is performed with meticulous attention to angiographic technique and handling of embolic material, ischemic damage of adjacent organs is rarely observed. Transarterial embolization should be an integrative modality in the treatment of gynecological bleeding. (orig.) [de

  16. Brain fat embolism

    International Nuclear Information System (INIS)

    Sugiura, Yoshihiro; Kawamura, Yasutaka; Suzuki, Hisato; Yanagimoto, Masahiro; Goto, Yukio

    1994-01-01

    Recently CT and MR imaging have demonstrated that cerebral edema is present in cases of fat embolism syndrome. To simulate this we have made a model of brain-fat embolism in rats under MR imaging. In 20 rats, we did intravenous injection of heparinized blood, 1.5 ml·kg -1 taken from femoral bone marrow cavity. Twenty four hours after the injection, we examined the MR images (1.5 tesla, spin-echo method) of brains and histologic findings of brains and lungs were obtained. In 5 of 20 rats, high signal intensity on T2-weighted images and low signal intensity on T1-weighted images were observed in the area of the unilateral cerebral cortex or hippocampus. These findings showed edema of the brains. They disappeared, however, one week later. Histologic examinations showed massive micro-fat emboli in capillaries of the deep cerebral cortex and substantia nigra, but no edematous findings of the brain were revealed in HE staining. In pulmonary arteries, we also found large fat emboli. We conclude that our model is a useful one for the study of brain fat embolism. (author)

  17. Anticoagulant Treatment of Deep Vein Thrombosis and Pulmonary Embolism: The Present State of the Art.

    Science.gov (United States)

    Thaler, Johannes; Pabinger, Ingrid; Ay, Cihan

    2015-01-01

    Venous thromboembolism (VTE), a disease entity comprising deep vein thrombosis (DVT) and pulmonary embolism (PE), is a frequent and potentially life-threatening event. To date different agents are available for the effective treatment of acute VTE and the prevention of recurrence. For several years, the standard of care was the subcutaneous application of a low molecular weight heparin (LMWH) or fondaparinux, followed by a vitamin K antagonist (VKA). The so-called direct oral anticoagulants (DOAC) were introduced rather recently in clinical practice for the treatment of VTE. DOAC seem to have a favorable risk-benefit profile compared to VKA. Moreover, DOAC significantly simplify VTE treatment because they are administered in fixed doses and no routine monitoring is needed. Patients with objectively diagnosed DVT or PE should receive therapeutic anticoagulation for a minimum of 3 months. Whether a patient ought to receive extended treatment needs to be evaluated on an individual basis, depending mainly on risk factors determined by characteristics of the thrombotic event and patient-related factors. In specific patient groups (e.g., pregnant women, cancer patients, and elderly patients), treatment of VTE is more challenging than that in the general population and additional issues need to be considered in those patients. The aim of this review is to give an overview of the currently available treatment modalities of acute VTE and secondary prophylaxis. In particular, specific aspects regarding the initiation of VTE treatment, duration of anticoagulation, and specific patient groups will be discussed.

  18. Treatment of deep vein thrombosis and pulmonary embolism: The present state of the art

    Directory of Open Access Journals (Sweden)

    Johannes eThaler

    2015-07-01

    Full Text Available AbstractVenous thromboembolism (VTE, a disease entity comprising deep vein thrombosis (DVT and pulmonary embolism (PE, is a frequent and potentially life-threatening event. To date different agents are available for the effective treatment of acute VTE and the prevention of recurrence. For several years the standard of care was the subcutaneous application of a low molecular weight heparin (LMWH or fondaparinux, followed by a vitamin K antagonist (VKA. The so-called direct oral anticoagulants (DOACs were introduced rather recently in clinical practice for the treatment of VTE. DOACs seem to have a favourable risk-benefit profile compared to VKAs. Moreover, DOACs significantly simplify VTE treatment, because they are administered in fixed doses and no routine monitoring is needed.Patients with objectively diagnosed DVT or PE should receive therapeutic anticoagulation for a minimum of 3 months. Whether a patient ought to receive extended treatment needs to be evaluated on an individual basis, depending mainly on risk factors determined by characteristics of the thrombotic event and patient-related factors. In specific patients groups (e.g. pregnant women, cancer patients and elderly patients treatment of VTE is more challenging than in the general population and additional issues need to be considered in those patients.The aim of this review is to give an overview of the currently available treatment modalities of acute VTE and secondary prophylaxis. In particular, specific aspects regarding the initiation of VTE treatment, duration of anticoagulation and specific patient groups will be discussed.

  19. Partial splenic embolization combined with vincristine infusion for the treatment of refractory idiopathic thrombocytopenic purpura and Evans syndrome: observation of its long-term efficacy

    International Nuclear Information System (INIS)

    Chen Shibing

    2011-01-01

    Objective: To observe the long-term efficacy of partial spleen embolization combined with vincristine infusion in treating refractory idiopathic thrombocytopenic purpura (ITP) and Evans syndrome. Methods: During the period of 2000-2007, partial spleen embolization together with vincristine infusion was carried out in 30 patients with refractory idiopathic thrombocytopenic purpura (n=24) or Evans syndrome (n=6). Vincristine infusion (2 mg) via splenic artery was performed before partial spleen embolization procedure. The long-term effectiveness was observed and analyzed. Results: One week after the treatment, the platelet count was increased from preoperative (10.23±8.28) × 10 9 /L to (140.28±85.45) × 10 9 /L in patients with ITP, while the platelet count was increased from preoperative (12±8) × 10 9 /L to (210±60) × 10 9 /L in patients with Evans syndrome. Meanwhile, the hemoglobin level showed an increase in different degrees, from preoperative (63.00±13.62) g/L to postoperative (123.00±13.14) g/L. The therapeutic effectiveness was 100%. During the follow-up time lasting for 3-5 years, recurrence was seen in 11 patients (36.7%) and the overall efficacy rate was 63.3%. Conclusion: For the treatment of refractory idiopathic thrombocytopenic purpura and Evans syndrome, partial spleen embolization combined with vincristine infusion carries reliable long-term efficacy. (author)

  20. Isolated Pulmonary Infective Endocarditis with Septic Pulmonary Embolism Complicating a Right Ventricular Outflow Tract Obstruction: Scarce and Devious Presentation

    Directory of Open Access Journals (Sweden)

    Abdelrahmen Abdelbar

    2013-01-01

    Full Text Available We present a case of a fifty-three-year-old male who presented with severe sepsis. He had been treated as a pneumonia patient for five months before the admission. Investigations revealed isolated pulmonary valve endocarditis and septic pulmonary embolism in addition to undiagnosed right ventricular outflow tract (RVOT obstruction. The patient underwent surgery for the relief of RVOT obstruction by substantial muscle resection of the RVOT, pulmonary artery embolectomy, pulmonary valve replacement, and reconstruction of RVOT and main pulmonary artery with two separate bovine pericardial patches. He was discharged from our hospital after 6 weeks of intravenous antibiotics. He recovered well on follow-up 16 weeks after discharge. A high-suspicion index is needed to diagnose right-side heart endocarditis. Blood cultures and transesophageal echocardiogram are the key diagnostic tools.

  1. Turner′s syndrome presenting as metabolic bone disease

    Directory of Open Access Journals (Sweden)

    Sadishkumar Kamalanathan

    2012-01-01

    Full Text Available Turner′s syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal. We report a case of Turner′s syndrome presenting with chronic kidney disease and renal osteodystrophy.

  2. Bartter syndrome: presentation in an extremely premature neonate.

    Science.gov (United States)

    Flores, F X; Ojeda, F J; Calhoun, D A

    2013-08-01

    Reports of Bartter syndrome in premature neonates are rare. We describe the presentation and clinical course of a neonate born at 25.6 weeks estimated gestational age with polyuria, hyponatremia, hypokalemia and hypercalciuria ,who was diagnosed with neonatal Bartter syndrome. The evaluation, diagnosis and management of neonatal Bartter syndrome in this premature neonate are discussed.

  3. [Laron syndrome: Presentation, treatment and prognosis].

    Science.gov (United States)

    Latrech, Hanane; Polak, Michel

    2016-01-01

    Laron syndrome is a rare cause of short stature due to an abnormality of growth hormone receptor (GHR). It is characterized by poor phenotype-genotype correlation and geographic predilection essentially in the Mediterranean rim, the Middle East and Indian subcontinent. This syndrome corresponds to an endogenous and exogenous complete insensitivity of GH and manifests by early hypoglycemia, an extremely severe short stature and dysmorphic features contrasting with high levels of circulating GH. To date, treatment with recombinant IGF1 is the only treatment option that has improved the terrible prognosis in these patients but does not actually realize the conditions for genuine replacement therapy. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  4. Cerebral Fat Embolism in a Trauma Patient with Captured Imaging of Echogenic Emboli in the Inferior Vena Cava

    Directory of Open Access Journals (Sweden)

    Nancy N. Wang

    2016-12-01

    Full Text Available The authors present a case of fat embolism syndrome after traumatic long-bone fracture in a patient with rapid neurologic deterioration and multiple cerebral embolic events. Diagnostic workup revealed the neuroradiologic findings classically described with cerebral fat emboli. The authors present hallmark ultrasound imaging of echogenic material actively traveling through the inferior vena cava.

  5. Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation.

    Science.gov (United States)

    Hotwani, Kavita; Sharma, Krishna

    2015-01-01

    Amniotic band syndrome (ABS) is a congenital disorder caused by entrapment of fetal parts in fibrous amniotic bands while in utero. The syndrome is underdiagnosed and its presentation is variable. The syndrome has been well described in the pediatric, orthopedic and obstetric literature; however, despite the discernable craniomaxillofacial involvement, ABS has not been reported in the dental literature very often. The present report describes a case of a patient with ABS and concomitant dental findings. How to cite this article: Hotwani K, Sharma K. Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation. Int J Clin Pediatr Dent 2015;8(1):55-57.

  6. Neurological presentations of a secondary antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Yesaulenko I.E.

    2017-03-01

    Full Text Available The aim of the study is to turn the attention of specialists to antiphospholipid syndrome (APS, which is of interest to physicians of many specialties. The observation of the patient W., 32 years, with secondary APS was analyzed. Poor prognostic factors in CFA are the high frequency of thrombotic complications and thrombocytopenia, and laboratory markers — the presence of lupus anticoagulant. All patients with APS should be under medical supervision, whose main task is to assess the risk of recurrence of venous or arterial thrombosis and its prevention.

  7. Cystinosis presenting with findings of Bartter syndrome.

    Science.gov (United States)

    Özkan, Behzat; Çayır, Atilla; Koşan, Celalettin; Alp, Handan

    2011-01-01

    A five-year-old boy was referred to our pediatric clinic for evaluation of failure to thrive, headache, intermittent high fever, restlessness, polyuria, and polydipsia. His weight and height measurements were under the 3rd percentile. Clinical findings consisted of frontal bossing, carious teeth, O-bain deformity of the lower extremities, and moderate dehydration. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome and a treatment regimen for Bartter syndrome was started. At follow-up, the polyuria and hyponatremia were found to persist. A reassessment of the patient revealed findings consistent with proximal renal tubular acidosis such as metabolic acidosis with a high urinary pH, proteinuria, aminoaciduria with phosphaturia and hypercalciuria. Based on the presence of parental consanguinity as well as polyuria, proteinuria, low tubular reabsorption of phosphorus, generalized aminoaciduria, light yellow skin and hair color, the probable diagnosis of cystinosis was established and was confirmed by slit-lamp examination of the cornea showing cystine crystal deposition. Our case is a good example demonstrating that development of metabolic alkalosis does not exclude cystinosis and that all findings of the patient should be thoroughly evaluated. ©Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.

  8. Gitelman's syndrome: a rare presentation mimicking cauda equina syndrome.

    LENUS (Irish Health Repository)

    Quinlan, C S

    2012-02-01

    We describe a case of bilateral weakness of the lower limbs, sensory disturbance and intermittent urinary incontinence, secondary to untreated Gitelman\\'s syndrome, in a 42-year-old female who was referred with presumed cauda equina syndrome. On examination, the power of both legs was uniformly reduced, and the perianal and lower-limb sensation was altered. However, MRI of the lumbar spine was normal. Measurements of serum and urinary potassium were low and blood gas analysis revealed metabolic alkalosis. Her symptoms resolved following potassium replacement. We emphasise the importance of measurement of the plasma and urinary levels of electrolytes in the investigation of patients with paralysis of the lower limbs and suggest that they, together with blood gas analysis, allow the exclusion of unusual causes of muscle weakness resulting from metabolic disorders such as metabolic alkalosis.

  9. Presenting A Case with Tubulointerstitial Nephritis and Uveitis (TINU- Syndrome

    Directory of Open Access Journals (Sweden)

    E Fotouhi Ardakani

    2008-10-01

    Full Text Available Concurrence of interstitial nephritis and uveitis named tubulointestitioal nephritis and uveitis syndrome (TINU are unusual and uncommon presentations of interstitial nephritis. This syndrome is considered after ruling out other differential diagnoses. A-38-year old man presented with acute renal failure and uveitis. The histologic findings of renal biopsy showed acute tubulointestitioal nephritis. The patient had no clinical and paraclinical manifestations of other etiologies of interstitial nephritis and uveitis such as Wegener's granulomatosis , Sjogren's syndrome or sarcoidosis. The diagnosis of TINU-Syndrome was therefore considered. The patient was treated by oral and ophthalmic prednisolone and had a good response to treatment.

  10. Presentation of a case with Wellens syndrome

    Directory of Open Access Journals (Sweden)

    Luis A. Rodríguez López

    2016-06-01

    Full Text Available This case report is about a 56-year-old male, farm worker with a history of being a smoker and suffering from high blood pressure, who was admitted at the Cardiology Care Department with the diagnosis of coronary artery disease –unstable angina–, because of chest pain related to physical effort and changes in the appearance threshold. Rest-electrocardiogram, painless, shows deep, symmetric negative T waves in anterior wall, without enzyme elevation; but during admission the patient evolves quickly, clinically and electrically, to an extensive anterior wall acute myocardial infarction, without responding to the fibrinolytic reperfusion therapy, and showing a ventricular tachycardia degenerating into ventricular fibrillation. There was no response to the maneuvers of cardiovascular resuscitation, thus, he dies. It is diagnosed postmortem as a Wellens syndrome, because necropsy showed severe atherosclerotic disease of the proximal segment of the left anterior descending coronary artery with extensive anterior transmural infarction.

  11. Impact of delay in clinical presentation on the diagnostic management and prognosis of patients with suspected pulmonary embolism.

    Science.gov (United States)

    den Exter, Paul L; van Es, Josien; Erkens, Petra M G; van Roosmalen, Mark J G; van den Hoven, Pim; Hovens, Marcel M C; Kamphuisen, Pieter W; Klok, Frederikus A; Huisman, Menno V

    2013-06-15

    The nonspecific clinical presentation of pulmonary embolism (PE) frequently leads to delay in its diagnosis. This study aimed to assess the impact of delay in presentation on the diagnostic management and clinical outcome of patients with suspected PE. In 4,044 consecutive patients with suspected PE, patients presenting more than 7 days from the onset of symptoms were contrasted with those presenting within 7 days as regards the safety of excluding PE on the basis of a clinical decision rule combined with D-dimer testing. Patients were followed for 3 months to assess the rates of recurrent venous thromboembolism and mortality. A delayed presentation (presentation >7 d) was present in 754 (18.6%) of the patients. The failure rate of an unlikely clinical probability and normal D-dimer test was 0.5% (95% confidence interval [CI], 0.01-2.7) for patients with and 0.5% (95% CI, 0.2-1.2) for those without diagnostic delay. D-dimer testing yielded a sensitivity of 99% (95% CI, 96-99%) and 98% (95% CI, 97-99%) in these groups, respectively. Patients with PE with diagnostic delay more frequently had centrally located PE (41% vs. 26%; P presentation. PE can be safely excluded based on a clinical decision rule and D-dimer testing in patients with a delayed clinical presentation. A delayed presentation for patients who survived acute PE was associated with a more central PE location, although this did not affect the clinical outcome at 3 months.

  12. Vertebral Arteriovenous Fistula Presenting as Cervical Myelopathy: A Rapid Recovery with Balloon Embolization

    International Nuclear Information System (INIS)

    Modi, Manish; Bapuraj, J. Rajiv; Lal, Anupam; Prabhakar, S.; Khandelwal, N.

    2010-01-01

    A 24-year-old male presented with progressive cervical myelopathy of 2 months' duration. Magnetic resonance imaging of the cervical spine and angiography revealed a large arteriovenous fistula arising from the left vertebral artery. The present case highlights the clinical features and dramatic recovery following endovascular balloon occlusion of a giant cervical arteriovenous fistula.

  13. Fatal pulmonary embolism following splenectomy in a patient with Evan's syndrome: case report and review of the literature.

    Science.gov (United States)

    Monga, Varun; Maliske, Seth M; Perepu, Usha

    2017-01-01

    Evans syndrome (ES) is a rare disease characterized by simultaneous or sequential development of autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP) with or without immune neutropenia. Splenectomy is one of the treatment options for disease refractory to medical therapy. Venous thromboembolism (VTE) following splenectomy for hematological diseases has an incidence of 10%. Here we describe a case report of a young patient hospitalized with severe hemolytic anemia with Hgb 4.8 g/dl. He developed thrombocytopenia with platelet nadir of 52,000/mm 3 , thus formally diagnosed with ES. He failed standard medical therapy. He underwent splenectomy and had a fatal outcome. Autopsy confirmed the cause of death as pulmonary embolism (PE). This case report and review of the literature highlight important aspects of the association between VTE, splenectomy, and hemolytic syndromes including the presence of thrombocytopenia. The burden of the disease is reviewed as well as various pathophysiologic mechanisms contributing to thromboembolic events in these patients and current perioperative prophylactic anticoagulation strategies. Despite an advancing body of literature increasing awareness of VTE following splenectomy, morbidity and mortality remains high. Identifying high risk individuals for thromboembolic complications from splenectomy remains a challenge. There are no consensus guidelines for proper perioperative and post-operative anti-coagulation. We encourage future research to determine which factors might be playing a role in increasing the risk for VTE in real time with hope of forming a consensus to guide management.

  14. Presentation of Depression in Autism and Asperger Syndrome: A Review

    Science.gov (United States)

    Stewart, Mary E.; Barnard, Louise; Pearson, Joanne; Hasan, Reem; O'Brien, Gregory

    2006-01-01

    Depression is common in autism and Asperger syndrome, but despite this, there has been little research into this issue. This review considers the current literature on the prevalence, presentation, treatment and assessment of depression in autism and Asperger syndrome. There are diagnostic difficulties when considering depression in autism and…

  15. Recurrent thrombo-embolic episodes: the association of cholangiocarcinoma with antiphospholipid syndrome

    Science.gov (United States)

    Samadian, S; Estcourt, L

    1999-01-01

    Antiphospholipid syndrome is a disorder of recurrent vascular thrombosis, pregnancy loss and thrombocytopenia associated with persistently elevated levels of antiphospholipid antibodies. It was first described in a group of patients with systemic lupus erythematosus but has since been associated with a wide range of conditions, including other autoimmune disorders and malignancy. It can also occur in isolation, the so-called primary antiphospholipid syndrome. We describe an elderly woman with the antiphospholipid syndrome thought to be associated with a cholangiocarcinoma.


Keywords: antiphospholipid syndrome; cholangiocarcinoma; deep vein thrombosis PMID:10396590

  16. Radiologic diagnosis of pulmonary embolism

    International Nuclear Information System (INIS)

    Fink, C.; Ley, S.; Kauczor, H.U.

    2004-01-01

    Pulmonary embolism is a frequent and potentially life-threatening complication of venous thromboembolism. Despite numerous modern diagnostic methods, the diagnosis of pulmonary embolism remains problematic, especially in view of the nonspecific clinical presentation. In this educational review, current diagnostic methods and their role in the diagnostic workup of pulmonary embolism will be discussed. In addition, practical guidelines are given for the diagnostic cascade contingent on the clinical probability for pulmonary embolism. (orig.) [de

  17. Crouzon’s Syndrome with Life-Threatening Ear Bleed: Ruptured Jugular Vein Diverticulum Treated by Endovascular Embolization

    Energy Technology Data Exchange (ETDEWEB)

    Mondel, Prabath Kumar, E-mail: prabathmondel@gmail.com; Anand, Sunanda, E-mail: sunandaanand@gmail.com; Limaye, Uday S., E-mail: uslkem@gmail.com [Lilavati Hospital and Research Centre, Department of Interventional Neuroradiology (India)

    2015-08-15

    Crouzon’s syndrome is the commonest variety of syndromic craniosynostosis. Life-threatening ear bleed due to ruptured jugular venous diverticulum in Crouzon’s syndrome has not been described previously. In patients with syndromic craniosynostosis, definitive repair of jugular diverticulum by open surgery is fraught with high risk of bleeding, poor functional outcomes, and even death. A 24-year-old woman with Crouzon’s syndrome presented with conductive hearing loss and recurrent episodes of torrential bleeding from her left ear. On computed tomography, a defect in the roof of jugular fossa containing jugular venous diverticulum immediately inferior to the bony external auditory canal was seen. The clinical presentation, imaging features, and endovascular management of Crouzon’s syndrome due to a ruptured jugular venous diverticulum is described.

  18. Crouzon’s Syndrome with Life-Threatening Ear Bleed: Ruptured Jugular Vein Diverticulum Treated by Endovascular Embolization

    International Nuclear Information System (INIS)

    Mondel, Prabath Kumar; Anand, Sunanda; Limaye, Uday S.

    2015-01-01

    Crouzon’s syndrome is the commonest variety of syndromic craniosynostosis. Life-threatening ear bleed due to ruptured jugular venous diverticulum in Crouzon’s syndrome has not been described previously. In patients with syndromic craniosynostosis, definitive repair of jugular diverticulum by open surgery is fraught with high risk of bleeding, poor functional outcomes, and even death. A 24-year-old woman with Crouzon’s syndrome presented with conductive hearing loss and recurrent episodes of torrential bleeding from her left ear. On computed tomography, a defect in the roof of jugular fossa containing jugular venous diverticulum immediately inferior to the bony external auditory canal was seen. The clinical presentation, imaging features, and endovascular management of Crouzon’s syndrome due to a ruptured jugular venous diverticulum is described

  19. Catheter Embolization

    Science.gov (United States)

    ... or treatment. top of page What are the benefits vs. risks? Benefits Embolization is a highly effective way of controlling ... risk of infection after embolization, even if an antibiotic has been given. However, the physician takes ample ...

  20. De morseir syndrome presenting as ambiguous genitalia

    OpenAIRE

    Anubhav Thukral; S Chitra; Partho P Chakraborty; Ajitesh Roy; Soumik Goswami; Rana Bhattacharjee; Deep Dutta; Indira Maisnam; Sujoy Ghosh; Satinath Mukherjee; Subhankar Chowdhury

    2012-01-01

    Background: A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity. Materials and Methods: The patient was found to have bilateral cryptorchidism with proximal penile hypospadias, microphallus with a proportionate dwarfism with mildly delayed bone age, and karyotype 46XY. Euthyroid with normal steroid axis, growth hormone insufficie...

  1. Sex differences in the characteristics and short-term prognosis of patients presenting with acute symptomatic pulmonary embolism.

    Directory of Open Access Journals (Sweden)

    Deisy Barrios

    Full Text Available We sought to examine sex-related differences in the characteristics and outcome in patients presenting with acute symptomatic pulmonary embolism (PE.We conducted a retrospective cohort study of 2,096 patients diagnosed with acute PE. The characteristics were recorded at presentation. Treatment was at the discretion of patients' physicians. The primary study outcome, all-cause mortality, and the secondary outcomes of PE-specific mortality, recurrent venous thromboembolism, and major bleeding were assessed during the first month of follow-up after PE diagnosis.Overall, the women were older than the men and had significantly higher rates of immobilization. They had significantly lower rates of chronic obstructive pulmonary disease and cancer. Women had a higher prevalence of syncope and elevated brain natriuretic peptide levels. Thirty-day all-cause mortality was similar between women and men (7.1% versus 6.2%; P = 0.38. Male gender was not independently significantly associated with PE-related death (adjusted odds ratio [OR] 1.02; 95% CI, 0.50 to 2.07; P = 0.96. Restricting the analyses to haemodynamically stable patients (n = 2,021, female gender was an independent predictor of all-cause (adjusted OR 1.56; 95% CI, 1.07 to 2.28; P = 0.02 and PE-specific mortality (adjusted OR 1.85; 95% CI, 1.02 to 3.33; P = 0.04. Compared with men, women were 2.05 times more likely to experience a major bleed.Women and men with PE had different clinical characteristics, presentation, and outcomes. Women receiving anticoagulation have a significantly higher risk of major bleeding, suggesting the need for careful monitoring of anticoagulant intensity in women.

  2. EEC syndrome sans clefting: Variable clinical presentations in a family

    Directory of Open Access Journals (Sweden)

    Thakkar Sejal

    2007-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly, epiphora, hair changes and deafness with variable involvement in each family member.

  3. Primary Sjogren's syndrome presenting as Acute Flaccid Quadriplegia:

    OpenAIRE

    Singhvi, J.P.; Ganguli, Anirban; Kaur, Bramhjyot

    2010-01-01

    Primary Sjogren's Syndrome presenting as quadriplegia and respiratory involvement due to renal tubular acidosis causing hypokalemia is rare and the significance of managing such case with potassium citrate instead of potassium chloride is highlighted.

  4. A Case of Acute Budd-Chiari Syndrome Complicating Primary Antiphospholipid Syndrome Presenting as Acute Abdomen and Responding to Tight Anticoagulant Therapy

    Directory of Open Access Journals (Sweden)

    Naofumi Chinen

    2016-01-01

    Full Text Available A 34-year-old woman with primary antiphospholipid syndrome was admitted to the Gastroenterology Department of our hospital with fever, acute abdomen, watery diarrhea, and extremely high levels of inflammatory parameters. She had a history of left lower limb deep vein thrombosis and pulmonary embolism and was taking warfarin potassium. Acute gastroenteritis was suspected and an antibiotic was administered, but symptoms progressed. Abdominal ultrasonography showed occlusion of the left hepatic vein and the middle hepatic vein and her D-dimer level was high. Accordingly, Budd-Chiari syndrome was diagnosed and high-dose intravenous infusion of heparin was initiated. Her abdominal symptoms improved and the levels of inflammatory parameters and D-dimer decreased rapidly. It is known that antiphospholipid syndrome can be complicated by Budd-Chiari syndrome that usually occurs as subacute or chronic onset, but acute onset is rare. It is difficult to diagnose acute Budd-Chiari syndrome complicating antiphospholipid syndrome and this complication generally has a poor outcome. However, the present case can get early diagnosis and successful treatment with tight anticoagulant therapy.

  5. A case of piriformis syndrome presenting as radiculopathy

    Directory of Open Access Journals (Sweden)

    Rammurthy Kulkarni

    2015-01-01

    Full Text Available Piriformis syndrome has always remained as a diagnostic dilemma because of its varied presentation. Piriformis syndrome is myofascial dysfunction syndrome which causes pain not only because of trigger points within the muscle but also due to peripheral neuritis of the sciatic nerve. The sciatic neuritis is due to compression of the nerve as it passes through the greater sciatic foramen. The symptoms of sciatic nerve entrapment caused by the piriformis syndrome can be easily mistaken for radiculopathy as the nerve entrapment causes pain which radiates down below the knee and can go up to the foot. Electromyography (EMG and nerve conduction velocity (NCV studies can help differentiating these two conditions and can eliminate the need for the magnetic resonance imaging (MRI. In this paper, we have reported a case of piriformis syndrome which mimicked S 1 radiculopathy, where diagnosis was confirmed by diagnostic piriformis injection.

  6. Meige's Syndrome: Rare Neurological Disorder Presenting as Conversion Disorder.

    Science.gov (United States)

    Debadatta, Mohapatra; Mishra, Ajay K

    2013-07-01

    Meige's syndrome is a rare neurological syndrome characterized by oromandibular dystonia and blepharospasm. Its pathophysiology is not clearly determined. A 35-year-old female presented to psychiatric department with blepharospasm and oromandibular dystonia with clinical provisional diagnosis of psychiatric disorder (Conversion Disorder). After thorough physical examination including detailed neurological exam and psychiatric evaluation no formal medical or psychiatric diagnosis could be made. The other differential diagnoses of extra pyramidal symptom, tardive dyskinesia, conversion disorder, anxiety disorder were ruled out by formal diagnostic criteria. Consequently with suspicion of Meige's syndrome she was referred to the department of Neurology and the diagnosis was confirmed. Hence, Meige's syndrome could be misdiagnosed as a psychiatric disorder such as conversion disorder or anxiety disorder because clinical features of Meige's syndrome are highly variable and affected by psychological factors and also can be inhibited voluntarily to some extent.

  7. Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

    Directory of Open Access Journals (Sweden)

    Ozyurt Abdullah

    2015-06-01

    Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

  8. Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

    Science.gov (United States)

    Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D

    2015-11-01

    To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Atypical presentation of HELLP syndrome: clinical case report

    Directory of Open Access Journals (Sweden)

    Juan Manuel Tobar Parra

    2017-12-01

    Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

  10. Analysis of acute ischemic stroke presenting classic lacunar syndrome. A study by diffusion-weighted MRI

    Energy Technology Data Exchange (ETDEWEB)

    Terai, Satoshi; Ota, Kazuki; Tamaki, Kinya [Hakujyuji Hospital, Fukuoka (Japan)

    2002-03-01

    We retrospectively assessed the pathophysiological features of acute ischemic stroke presenting ''classic'' lacunar syndrome by using diffusion-weighted imaging (DWI). Subjects were 16 patients who were admitted to our hospital within 24 hours of stroke onset and underwent DWI examination on admission. These were divided into three categorical groups; pure motor hemiplegia (PMH) in 8, sensorimotor stroke (SMS) in 7, and dysarthria-clumsy hand syndrome (DCHS) in 1. The fresh responsible lesions were identified by DWI in the perforating territory in 7 patients with PMH and 7 with SMS. Four (one had two possible response lesions; pons and corona radiata) and five patients in the respective groups were diagnosed as lacunar infarction on admission (the largest dimension of the lesion measuring smaller than 15 mm). On the contralateral side to the neurological symptoms, DWI revealed high intensities in cortex, subcortical white matter, and anterior and posterior border zones in the remaining one patient with PMH and in the precentral arterial region in one with DCHS. They were diagnosed as atherothrombotic infarction resulting from the occlusion of the internal carotid artery and cerebral embolism due to atrial fibrillation, respectively. Three patients with PMH showed progressive deterioration after admission and follow-up DWI study in an acute stage revealed enlargement of heir ischemic lesions. The present study suggests that DWI is a useful imaging technique for diagnosis of clinical categories and observation for pathophsiological alteration in the acute ischemic stroke patients with ''classic'' lacunar syndrome. Our results also indicate a necessity to be aware that various types of fresh ischemic lesions other than a single lacune might possibly be developing in cases with this syndrome. (author)

  11. Marfan's syndrome presenting with abdominal aortic aneurysm: A ...

    African Journals Online (AJOL)

    We present the case of a 16-year old student with Marfan's syndrome and abdominal aortic aneurysm who presented with a diagnostic conundrum. He presented with a three months history of progressive painful left upper abdominal mass and back pain. It became severe in the last two weeks before presentation and was ...

  12. Pulmonary fat embolism: a case report

    International Nuclear Information System (INIS)

    Douvlou, E.; Vakhnina-Vassila, O.; Vlahou, I.; Petrocheilou, G.; Markantonatos, D.; Petinelli, A.; Stathopoulou, S.; Kokkinis, C.

    2012-01-01

    Full text: Introduction: Fat embolism is a clinical syndrome that usually occurs from the first to third day after a bone fracture or/and an orthopaedic surgery. The target organs are the lungs and more rarely the brain and the skin. Objectives and tasks: The aim of this presentation is to discuss the imaging diagnostic criteria of lung fat embolism in CT on the occasion of a case. Material and methods: A 30-years-old male patient was admitted to the Orthopaedic Department after a motorbike accident. A fracture of the head of his right femur was diagnosed and the patient underwent a surgery 3 days later. During the first postoperative day, the patient presented severe dyspnoea, tachycardia, a significant fall of PO 2 (59 mmHg) and a parallel increase in d-Dimmers (7.8 mg/l). The patient was then referred for a chest CT scan. Results: Contrast enhanced CT excluded the presence of thrombus in the pulmonary arteries and raised the diagnosis of lung fat embolism (septal thickening with a nodular pattern and diffuse ground-glass opacities along with the presence of small quantity of bilateral pleural effusions). Conclusion: Chest CT prior and the use of intravenous contrast media after is the most reliable diagnostic method to confirm or exclude pulmonary fat embolism syndrome

  13. Metastatic neuroendocrine tumor with initial presentation of orbital apex syndrome

    Directory of Open Access Journals (Sweden)

    Yen-Yu Huang

    2017-03-01

    Full Text Available The possible etiologies of orbital apex syndrome range from inflammatory, infectious, neoplastic, iatrogenic/traumatic, to vascular processes. In patients without obvious infection or systemic cancer history, judicious use of corticosteroids is a reasonable strategy. We describe a 64-year-old man who presented with orbital apex syndrome and had progressed to total visual loss in three days after admission. Radiological imaging and pathological studies were consistent with a neuroendocrine tumor with multiple metastases. We recommend that a biopsy-proven specimen is warranted in patient with orbital apex syndrome even without a cancer history.

  14. Polymyositis-like syndrome caused by hypothyroidism, presenting as camptocormia.

    Science.gov (United States)

    Kim, Ji Min; Song, Eun Joo; Seo, Jae Seok; Nam, Eon Jeong; Kang, Young Mo

    2009-01-01

    Polymyositis-like syndrome characterized by proximal muscle weakness and elevation of muscle enzymes may be a presenting manifestation of hypothyroidism. Camptocormia, which can be caused by myopathy of the paraspinal muscles, is an involuntary truncal flexion of the thoracolumbar spine while standing or walking. Among various neuromuscular disorders, hypothyroidism has not been reported in the literature as a cause of camptocormia. This is the first report of polymyositis-like syndrome with camptocormia caused by hypothyroidism.

  15. Atypical Presentation of Sjögren-Larsson Syndrome

    Directory of Open Access Journals (Sweden)

    D. Papathemeli

    2017-01-01

    Full Text Available Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95. This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.

  16. Nelson′s syndrome presenting as bilateral oculomotor palsy

    Directory of Open Access Journals (Sweden)

    Abhay Gundgurthi

    2013-01-01

    Full Text Available Nelson′s syndrome refers to a clinical spectrum arising from progressive enlargement of pituitary adenoma and elevated adrenocorticotrophic hormone after total bilateral adrenalectomy for Cushing′s disease comprising of hyperpigmentation, visual field defects which can be life threatening. We report here a 50-year male presenting with rapid onset of Nelson′s syndrome with an unusual finding of bilateral oculomotor palsy mistakenly treated as ocular myasthenia.

  17. Verapamil-induced breakdown of the blood-brain barrier presenting as a transient right middle cerebral artery syndrome.

    Science.gov (United States)

    Pace, Jonathan; Nelson, Jeffrey; Ray, Abhishek; Hu, Yin

    2017-12-01

    A middle-aged patient presented for elective embolization of an incidentally found right internal carotid aneurysm. An angiogram was performed, during which the left internal carotid artery was visualized to evaluate a second, small aneurysm. During the embolization of the right internal carotid artery aneurysm, a catheter-induced vasospasm was identified that prompted treatment with intra-arterial verapamil. The procedure was uncomplicated; a postoperative rotational flat-panel computed tomography scan was performed on the angiography table that demonstrated right hemisphere contrast staining. The patient developed a right middle cerebral artery (MCA) syndrome after extubation with repeat cerebral angiography negative for occlusion and magnetic resonance imaging negative for stroke. The patient was observed for 48 hours, during which time the patient had slowly improved. At a six-week follow up visit, the patient had fully recovered. We present an interesting case of a verapamil-induced breakdown of the blood-brain barrier and self-limited right MCA syndrome.

  18. Gender-related differences in clinical presentation, electrocardiography signs, laboratory markers and outcome in patients with acute pulmonary embolism.

    Science.gov (United States)

    Obradović, Slobodan; Džudović, Boris; Rusović, Siniša; Subota, Vesna; Obradović, Dragana

    2016-09-01

    Acute pulmonary embolism (PE) is a potentially life threating event, but there are scarce data about genderrelated differences in this condition. The aim of this study was to identify gender-specific differences in clinical presentation, the diagnosis and outcome between male and female patients with PE. We analysed the data of 144 consecutive patients with PE (50% women) and compared female and male patients regarding clinical presentation, electrocardiography (ECG) signs, basic laboratory markers and six-month outcome. All the patients confirmed PE by visualized thrombus on the multidetector computed tomography with pulmonary angiography (MDCTPA), ECG and echocardiographic examination at admission. Compared to the men, the women were older and a larger proportion of them was in the third tertile of age (66.0% vs 34.0%, p = 0.008). In univariate analysis the men more often had hemoptysis [OR (95% CI) 3.75 (1.16-12.11)], chest pain [OR (95% CI) 3.31 (1.57-7.00)] febrile state [OR (95% CI) 2.41 (1.12-5.22)] and pneumonia at PE presentation [OR (95% CI) 3.40 (1.25-9.22)] and less likely had heart decompensation early in the course of the disease [OR (95%CI) 0.48 (0.24-0.97)]. In the multivariate analysis a significant difference in the rate of pneumonia and acute heart failure between genders disappeared due to strong influence of age. There was no significant difference in the occurrence of typical ECG signs for PE between the genders. Women had higher level of admission glycaemia [7.7 mmol/L (5.5-8.2 mmol/L) vs 6.9 mmol/L (6.3-9.6 mmol/L), p = 0.006] and total number of leukocytes [10.5 x 109/L (8.8-12.7 x 109/L vs 8.7 x 109/L (7.0-11.6 x 109/L)), p = 0.007]. There was a trend toward higher plasma level of brain natriuretic peptide in women compared to men 127.1 pg/mL (55.0-484.0 pg/mL), p = 0.092] vs [90.3 pg/mL (39.2-308.5 pg/mL). The main 6-month outcomes, death and major bleeding, had similar frequencies in both sexes. There are several important differences

  19. Evaluation of Effectiveness of Embolization in Pelvic Congestion Syndrome with the New Vascular Occlusion Device (ArtVentive EOS™): Preliminary Results

    Energy Technology Data Exchange (ETDEWEB)

    Pyra, Krzysztof, E-mail: k.pyra@poczta.fm [Medical University of Lublin, Department of Interventional Radiology and Neuroradiology (Poland); Woźniak, Sławomir, E-mail: slavwo7572@gmail.com [Medical University of Lublin, III Gynecology Clinic (Poland); Drelich-Zbroja, Anna, E-mail: zbroanna@interia.pl; Wolski, Andrzej, E-mail: andrzej.s.wolski@gmail.com; Jargiełło, Tomasz, E-mail: tojarg@interia.pl [Medical University of Lublin, Department of Interventional Radiology and Neuroradiology (Poland)

    2016-08-15

    PurposeThis study aimed to collect confirmatory data in support of the safety and efficiency of the ArtVentive EOS™ for the treatment of the pelvic congestion syndrome (PCS). This study was based on the OCCLUDE 1 Study Protocol approved by the Local Ethics Committee.Materials and MethodsA prospective study carried out in June and July 2014 included 12 women aged 21–48 years (mean 31 years) scheduled for PCS embolization using the ArtVentive EOS™. The inclusion criteria were clinical symptoms of PCS documented by transvaginal Doppler ultrasound and pelvic MRI. The pelvic pain was assessed by VAS score from 0 to 10 (0 represents lack of pain and 10 unbearable pain). A decrease in pelvic pain intensity based on the VAS was considered a clinical success.ResultsSuccessful embolization procedures with ArtVentive EOS™ were performed in 11 out of 12 patients. Nine patients underwent unilateral embolization of the left ovarian vein, and two had bilateral embolization of the ovarian veins. Complete ovarian vein occlusion confirmed by post deployment venography was achieved in all 11 patients. Procedures lasted from 19 to 45 min (average 28 min). Pain intensity decrease was observed in all 11 patients—a decrease of 5.6 points—from 7.3 pre-procedure to 1.6 post-embolization (standard deviation: 0.67). In one case, the left ovarian vein was injured by guide wire manipulation with contrast extravasation—not clinically significant.ConclusionsThe use of ArtVentive EOS™ for occlusion of the ovarian veins in PCS patients is safe and effective.

  20. Evaluation of Effectiveness of Embolization in Pelvic Congestion Syndrome with the New Vascular Occlusion Device (ArtVentive EOS™): Preliminary Results

    International Nuclear Information System (INIS)

    Pyra, Krzysztof; Woźniak, Sławomir; Drelich-Zbroja, Anna; Wolski, Andrzej; Jargiełło, Tomasz

    2016-01-01

    PurposeThis study aimed to collect confirmatory data in support of the safety and efficiency of the ArtVentive EOS™ for the treatment of the pelvic congestion syndrome (PCS). This study was based on the OCCLUDE 1 Study Protocol approved by the Local Ethics Committee.Materials and MethodsA prospective study carried out in June and July 2014 included 12 women aged 21–48 years (mean 31 years) scheduled for PCS embolization using the ArtVentive EOS™. The inclusion criteria were clinical symptoms of PCS documented by transvaginal Doppler ultrasound and pelvic MRI. The pelvic pain was assessed by VAS score from 0 to 10 (0 represents lack of pain and 10 unbearable pain). A decrease in pelvic pain intensity based on the VAS was considered a clinical success.ResultsSuccessful embolization procedures with ArtVentive EOS™ were performed in 11 out of 12 patients. Nine patients underwent unilateral embolization of the left ovarian vein, and two had bilateral embolization of the ovarian veins. Complete ovarian vein occlusion confirmed by post deployment venography was achieved in all 11 patients. Procedures lasted from 19 to 45 min (average 28 min). Pain intensity decrease was observed in all 11 patients—a decrease of 5.6 points—from 7.3 pre-procedure to 1.6 post-embolization (standard deviation: 0.67). In one case, the left ovarian vein was injured by guide wire manipulation with contrast extravasation—not clinically significant.ConclusionsThe use of ArtVentive EOS™ for occlusion of the ovarian veins in PCS patients is safe and effective.

  1. Multiple Autoimmune Syndromes Associated with Psoriasis: A Rare Clinical Presentation

    Directory of Open Access Journals (Sweden)

    Sadia Masood

    2014-03-01

    Full Text Available Autoimmune diseases are known to have association with each other but it is very rare to see multiple autoimmune diseases in one patient. The combination of at least three autoimmune diseases in the same patient is referred to as multiple autoimmune syndrome. The case we are reporting features multiple autoimmune syndrome with five different conditions. The patient had type 1 diabetes mellitus, autoimmune hemolytic anemia, systemic lupus erythematosus, vitiligo, and psoriasis. Psoriasis has rarely been reported previously under the spectrum of autoimmune syndrome. Although the relationship of autoimmune conditions with each other has been explored in the past, this case adds yet another dimension to the unique evolution of autoimmune pathologies. The patient presented with a combination of five autoimmune diseases, which makes it consistent type three multiple autoimmune syndromes with the addition of psoriasis. The current case is unique in this aspect that the combination of these five autoimmune disorders has never been reported in the past.

  2. Fatal Klippel-Trenaunay syndrome in a child with pulmonary embolism

    DEFF Research Database (Denmark)

    Pedersen, Rie Skovgaard; Hedelund, Lene; Poulsen, Lone H

    2013-01-01

    Klippel-Trénaunays syndrom (KTS) er en sjælden, medfødt sygdom, der er kendetegnet ved venøse malformationer (VM), kutane kapillære malformationer og overvækst af bløddele og/eller knogler [1]. Forekomst af hyperkoagulabilitet, trombosering og lungeemboli er tidligere beskrevet hos patienter med ...

  3. Churg–Strauss Syndrome Presenting with Endobronchial Masses

    Directory of Open Access Journals (Sweden)

    Veli Çetinsu

    2015-12-01

    Full Text Available Churg–Strauss syndrome is a condition with unknown etiology and asthma, allergic rhinitis, eosinophilic infiltration of blood and tissues, and transient infiltration of the lungs. It occurs mostly in the 3rd–4th decades of life with an incidence of 2.4/1000000. Presentation frequently involves nodular lung infiltrations, infiltrations with cavity, ground-glass appearance, and alveolar opacity. However, endobronchial mass is an unexpected presentation. In the current case report, we present a 45-year-old male patient who was receiving asthma therapy for 5 years. In the last follow-up visit, we identified a mass in the right hilum on X-ray radiography and performed fiberoptic bronchoscopy. Pathologic examination of biopsy material verified the diagnosis of Churg–Strauss syndrome. Bronchial mass is an unexpected presentation of Churg–Strauss syndrome and pathologic examination is essential to distinguish it from pulmonary malignancies

  4. Palliative percutaneous kidney embolization with enbucrilate in patients with renal cell carcinoma: safety and symptom control.

    Science.gov (United States)

    Serafin, Zbigniew; Karolkiewicz, Maciej; Strześniewski, Piotr; Lasek, Władysław; Bryczkowski, Michał; Wolski, Zbigniew

    2007-05-01

    Primarily palliative renal embolization is a relatively rare procedure which is indicated in patients with unresectable kidney malignancies and in patients in poor general condition. The aim of this paper was to evaluate the role of primarily palliative transarterial renal embolization for the treatment of inoperable patients with renal cell carcinoma, assessing the indications, safety, and efficacy of this procedure. Seventy-three patients scheduled for palliative embolization between 1998 and 2005 were retrospectively analyzed regarding their medical history, the procedure report, and data from the early postoperative period. Sixty-six of the 73 patients presented with renal cell carcinoma stage IV. The most common indication for embolization was hematuria (34%), followed by flank pain (32%), prophylaxis in stage IV (25%), lack of consent for surgery (7%), and poor general condition (3%). Embolizations were performed under local anesthesia with a mixture of enbucrilate and iodinated oil, with the use of additional embolizing materials in two cases. The procedure eliminated hematuria in 100% of cases and removed the loin pain completely in 72%. Migration of the embolizing material was observed in 10% of cases, and in 4% it resulted in symptomatic occlusion of the lower extremity distal arteries. Postembolic syndrome was noted in 92% of the patients Percutaneous palliative embolization with enbucrilate is a safe and effective method of treating patients with unresectable renal cell carcinoma. The potential effect of the embolization on cancer progression and improvement of survival in these patients still requires prospective investigation.

  5. An Abdominal Presentation of Churg-Strauss Syndrome

    Science.gov (United States)

    Rees, J. R. E.; Burgess, P.

    2010-01-01

    Churg-Strauss syndrome is a small and medium vessel vasculitis that is also known as allergic granulomatous angiitis. It most commonly presents with an asthma like symptoms. It was first described in Mount Siani Hospital, New York in 1951 by Jacob Churg and Lotte Stauss and was recognised after the study of a series of 13 patients who had asthma, eosinophilia, granulomatous inflammation necrotising systemic vasculitis and necrotising glomerulonephritis. We describe a case of Churg-Strauss syndrome presenting with abdominal pain and later during the hospital admission a mono-neuritis multiplex syndrome affecting the lower limbs. The patient presented in such an atypical fashion with abdominal signs and symptoms that they required laparotomy and the diagnosis was made after histological examination of tissue taken at the time of surgery. Treatment with immunosuppression and aggressive rehabilitation achieved a progressive recovery which continued on discharge from hospital. PMID:20814555

  6. An Abdominal Presentation of Churg-Strauss Syndrome

    Directory of Open Access Journals (Sweden)

    J. R. E. Rees

    2010-01-01

    inflammation necrotising systemic vasculitis and necrotising glomerulonephritis. We describe a case of Churg-Strauss syndrome presenting with abdominal pain and later during the hospital admission a mono-neuritis multiplex syndrome affecting the lower limbs. The patient presented in such an atypical fashion with abdominal signs and symptoms that they required laparotomy and the diagnosis was made after histological examination of tissue taken at the time of surgery. Treatment with immunosuppression and aggressive rehabilitation achieved a progressive recovery which continued on discharge from hospital.

  7. MELAS syndrome presenting as an acute surgical abdomen.

    Science.gov (United States)

    Dindyal, S; Mistry, K; Angamuthu, N; Smith, G; Hilton, D; Arumugam, P; Mathew, J

    2014-01-01

    MELAS (mitochondrial cytopathy, encephalomyopathy, lactic acidosis and stroke-like episodes) is a syndrome in which signs and symptoms of gastrointestinal disease are uncommon if not rare. We describe the case of a young woman who presented as an acute surgical emergency, diagnosed as toxic megacolon necessitating an emergency total colectomy. MELAS syndrome was suspected postoperatively owing to persistent lactic acidosis and neurological symptoms. The diagnosis was later confirmed with histological and genetic studies. This case highlights the difficulties in diagnosing MELAS because of its unpredictable presentation and clinical course. We therefore recommend a high index of suspicion in cases of an acute surgical abdomen with additional neurological features or raised lactate.

  8. [Thoracic aortic dissection revealed by systemic cholesterol embolism].

    Science.gov (United States)

    Braem, L; Paule, P; Héno, P; Morand, J J; Mafart, B; La Folie, T; Varlet, P; Mioulet, D; Fourcade, L

    2006-10-01

    Systemic cholesterol embolism is a rare complication of atherosclerosis, and has various presentations. Arterial catheterisms are a common cause. However, the association with an aortic dissection has been exceptionally reported. We report the observation of a 70 year-old man, with coronary artery disease, hypertension, diabetes and dyslipidemia. Six months before hospitalization, a coronary angioplasty was performed due to recurrent angina. The association of purpuric lesions on the feet, with acute renal failure confirmed cholesterol embolism syndrome. Transoesophageal echocardiography showed a dissection of the descending thoracic aorta associated with complex atheroma. The evolution was marked by the pulpar necrosis of a toe and by a worsening of the renal failure, requiring definitive hemodialysis. Further echographic control highlighted the rupture of the intimal veil of the dissection. Cholesterol embolism syndrome may reveal an aortic dissection in patients without thoracic symptoms. In such cases, transoesophageal echocardiography is a useful and non-invasive examination.

  9. Pattern of Presentation of Multiple Organ Dysfunction Syndrome in ...

    African Journals Online (AJOL)

    Background: Multiple organ dysfunction syndrome is the sequential failure of several organ systems after a trigger event, like sepsis, massive transfusions, burns, trauma and cardiogenic shock. Aim and Objectives- The pattern of presentation of multiple organ dysfunction and the risk factors associated with multiple organ ...

  10. 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)

  11. Ward Round - Late Presentation of Acute Compartment Syndrome in ...

    African Journals Online (AJOL)

    following the course of ibuprofen mentioned. Twelve days after admission he started to complain of increasing pain and tightness in his left thigh. Sensation and motor function. Ward Round - Late Presentation of Acute. Compartment Syndrome in the Thigh. University of Malawi, College of Medicine, Department of Surgery,.

  12. Bardet-biedl syndrome presenting with end stage renal failure

    International Nuclear Information System (INIS)

    Ansari, R.M.; Junejo, A. M.

    2006-01-01

    A young male presented in the Nephro-Urology Department with advanced renal failure, blindness in early childhood, polydactaly,obesity, decreased mentation and hypogonadism. With these phenotypical features and renal ultrasonographic findings, he was diagnosed as a case of Bardet-Biedl syndrome. Only one younger sister of patient had similar features. Renal impairment is frequent and an important cause of death. End stage renal disease (ESRD) is rarely seen in younger patient of Bardet-Biedl syndrome. However, ESRD in early age is associated with substantially reduced survival. (author)

  13. Transcatheter arterial embolization with trisacryl gelatin microspheres (Embosphere®) leads to life-threatening tumor lysis syndrome in a rectal carcinoid patient with hepatic metastases

    International Nuclear Information System (INIS)

    Lo, Yuan-Hao; Tsai, Ming-Tsun; Kuo, Chen-Yu; Liu, Wen-Sheng; Lee, Rheun-Chuan; Yeh, Yi-Chen; Li, Chung-Pin; Chen, Jinn-Yang; Chao, Yee

    2012-01-01

    The incidence of gastrointestinal carcinoids appears to be increasing, and the rectum is the third most common location. Transcatheter arterial embolization (TAE) with trisacryl gelatin microspheres (Embosphere ® ) has been reported as an effective method for hepatic metastases of rectal carcinoids. Complications are uncommon and usually of minor consequence. We report an unusual case of a 34-year-old man with tumor lysis syndrome following TAE with Embosphere ® in a patient with multiple hepatic metastases of a rectal carcinoid. Early detection and effective treatment are essential for this rare but potentially catastrophic complication

  14. Fecal microbiota transplantation in metabolic syndrome: History, present and future.

    Science.gov (United States)

    de Groot, P F; Frissen, M N; de Clercq, N C; Nieuwdorp, M

    2017-05-04

    The history of fecal microbiota transplantation (FMT) dates back even to ancient China. Recently, scientific studies have been looking into FMT as a promising treatment of various diseases, while in the process teaching us about the interaction between the human host and its resident microbial communities. Current research focuses mainly on Clostridium difficile infections, however interest is rising in other areas such as inflammatory bowel disease (IBD) and the metabolic syndrome. With regard to the latter, the intestinal microbiota might be causally related to the progression of insulin resistance and diabetes. FMT in metabolic syndrome has proven to be an intriguing method to study the role of the gut microbiota and open the way to new therapies by dissecting in whom insulin resistance is driven by microbiota. In this article we review the history of FMT, the present evidence on its role in the pathophysiology of metabolic syndrome and its efficacy, limitations and future prospects.

  15. Adult presentation of Bartter syndrome type IV with erythrocytosis.

    Science.gov (United States)

    Heilberg, Ita Pfeferman; Tótoli, Cláudia; Calado, Joaquim Tomaz

    2015-01-01

    Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period. We report an unusual case of late onset presentation of Bartter syndrome IV and mild phenotype in a 20 years-old man who had hypokalemia, deafness, secondary hyperparathyroidism and erythrocytosis.

  16. An Unusual Aneurysm of the Main Pulmonary Artery Presenting as Acute Coronary Syndrome

    International Nuclear Information System (INIS)

    Kholeif, Mona A.; El Tahir, Mohamed; Kholeif, Yasser A.; El Watidy, Ahmed

    2006-01-01

    A 70-year old man presented with retrosternal chest pain. His electrocardiogram showed nonspecific T wave changes. Cardiac-specific troponin I (cTnI) was elevated. His condition was managed as acute coronary syndrome, following which he had two minor episodes of hemoptysis. A CT pulmonary angiogram showed no evidence of pulmonary embolism, but a large mass lesion was seen in the mediastinum. Echocardiography and cardiac MRI demonstrated a large solid mass, arising from the right ventricular outflow tract and causing compression of the main pulmonary artery (MPA). The differential diagnosis included pericardial and myocardial tumors and clotted aneurysm of the MPA. At surgery, a clotted aneurysmal sac was identified originating from the MPA and the defect was healed. Aneurysms of the MPA are rare. They most commonly present with dyspnea and chest pain. Compression of surrounding structures produces protean manifestations. A high index of suspicion coupled with imaging modalities establishes the diagnosis. Blunt trauma to the chest, at the time of an accident 4 years previously, may explain this aneurysm. The patient's presentation with chest pain was probably due to compression and/or stretching of surrounding structures. Coronary artery compression simulating acute coronary syndrome has been documented in the literature. The rise in cTnI may have been due to right ventricular strain, as a result of right ventricular outflow obstruction by the aneurysm. This has not been reported previously in the literature. The saccular morphology and narrow neck of the aneurysm predisposed to stagnation leading to clotting of the lumen and healing of the tear, which caused the diagnostic difficulty

  17. Childhood allergic bronchopulmonary aspergillosis presenting as a middle lobe syndrome

    OpenAIRE

    Shah, Ashok; Gera, Kamal; Panjabi, Chandramani

    2016-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral vie...

  18. A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

    Directory of Open Access Journals (Sweden)

    Christina E. Brzezniak

    2017-04-01

    Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

  19. Silent Aortic Dissection Presenting as Transient Locked-In Syndrome

    Science.gov (United States)

    Nadour, Wadih; Goldwasser, Brian; Biederman, Robert W.; Taffe, Kevin

    2008-01-01

    Acute aortic dissection is a medical emergency. Without prompt recognition and treatment, the mortality rate is high. An atypical presentation makes timely diagnosis difficult, especially if the patient is experiencing no characteristic pain. Many patients with aortic dissection are reported to have presented with various neurologic manifestations, but none with only a presentation of transient locked-in syndrome. Herein, we report a case of completely painless aortic dissection in a woman who presented with a transient episode of anarthria, quadriplegia, and preserved consciousness. On physical examination, she had a 40-point difference in blood pressure between her left and right arms, and a loud diastolic murmur. The diagnosis of acute aortic dissection was reached via a combination of radiography, computed tomography, echocardiography, and a high index of clinical suspicion. The patient underwent emergency surgery and ultimately experienced a successful outcome. To our knowledge, this is the 1st report of aortic dissection that presented solely as locked-in syndrome. We suggest that silent aortic dissection be added to the differential diagnosis for transient locked-in syndrome. PMID:18941610

  20. Case report: heavy metal burden presenting as Bartter syndrome.

    Science.gov (United States)

    Crinnion, Walter J; Tran, Jessica Q

    2010-12-01

    Maternal transfer of heavy metals during fetal development or lactation possibly contributed to the clinical manifestations of Bartter syndrome and developmental delay in the offspring. An 11-month-old child diagnosed with Bartter syndrome and failure to thrive was treated concurrently for elevated metal burden while he was undergoing standard medical interventions. Treatment with body-weight doses of meso-2,3-dimercaptosuccinic acid (DMSA) reduced the body burden of lead, beryllium, copper, mercury, and cadmium at the three- and sixth-month follow-up tests. During the course of the six-month treatment, the patient gained 2.4 kg (5.2 lb) and grew approximately 9.5 cm (3.75 in). His weight shifted from significantly below the 5th percentile in weight to within the 5th percentile, and from below the 5th to within the 10th percentile for length. The child's acquisition of lead, beryllium, and copper correspond to his mother's history of stained glass assembly and occurred during fetal development or lactation, since there were no other identifiable sources that could have contributed to the heavy metal burden. Tests for known genetic mutations leading to Bartter syndrome were all negative. This case report highlights the potential benefit of DMSA for treatment of heavy metal body burden in infants who present with Bartter syndrome.

  1. Idiopathic Atypical Haemolytic Uraemic Syndrome presenting with acute dystonia

    LENUS (Irish Health Repository)

    Maduemem, Rizwan K E

    2017-09-01

    Hemolytic Uremic Syndrome (HUS), a triad of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The atypical HUS (aHUS) results from over activation of complement system with formation of micro thrombi and damage to endothelial cells resulting in renal impairment in 50 % and death in 25 %, commonly in untreated patients. We report an intriguing case of aHUS presenting with acute onset of movement disorder and fluctuating delirium.

  2. A Case of Ramsay Hunt Syndrome with Atypical Presentation

    Directory of Open Access Journals (Sweden)

    Kamil KAYAYURT

    2014-09-01

    Full Text Available SUMMARY: Ramsay Hunt syndrome is a rare complication of herpes zoster which results from the reactivation of the latent varicella-zoster virus in the geniculate ganglion. Although facial nerve is the most common affected nerve in Ramsay Hunt syndrome, other cranial and cervical nerves can also be affected. We present an atypical case of Ramsay Hunt syndrome in a 42-year-old male, with cervical nerve involvement. As spontaneous recovery rate in Ramsay Hunt syndrome is low, early diagnosis and treatment plays a key role in full recovery of paralysis. ÖZET: Ramsay Hunt sendromu, varisella-zoster virüsün latent olarak kaldığı genikulat ganglionda aktifleşmesiyle oluşan herpes zosterin nadir bir komplikasyonudur. Ramsay Hunt sendromunda fasiyal sinir en sık etkilenen sinir olmasına rağmen diğer kraniyal sinirler ve servikal sinirler de tutulabilir. Bu yazıda, 42 yaşındaki erkek hastada servikal tutulumun da eşlik ettiği atipik bir Ramsay Hunt sedromu olgusu sunuldu. Ramsay Hunt sedromunda spontan iyileşme oranları düşük olduğundan bu hastaların tanılarının erken dönemde konması ve tedavilerinin hemen başlanması paralizinin tam olarak iyileşmesinde kilit role sahiptir. Key words: Facial palsy, Ramsay Hunt syndrome, varicella-zoster virus, Anahtar sözcükler: Fasiyal paralizi, Ramsay Hunt sendromu, varisella-zoster virüs

  3. Síndrome da angústia respiratória do adulto por embolia gordurosa no período pós-operatório de lipoaspiração e lipoenxertia Adult respiratory distress syndrome due to fat embolism in the postoperative period following liposuction and fat grafting

    Directory of Open Access Journals (Sweden)

    André Nathan Costa

    2008-08-01

    Full Text Available A embolia gordurosa é definida como a ocorrência de bloqueio mecânico da luz vascular por gotículas circulantes de gordura. Acomete principalmente o pulmão, podendo afetar também o sistema nervoso central, a retina e a pele. A síndrome da embolia gordurosa é uma disfunção desses órgãos causada pelos êmbolos gordurosos. As causas mais comuns de embolia gordurosa e síndrome da embolia gordurosa são as fraturas de ossos longos, mas há relatos de sua ocorrência após procedimentos estéticos. O diagnóstico é clínico, e o tratamento ainda se restringe a medidas de suporte. Apresentamos o caso de uma paciente que evoluiu com síndrome da angústia respiratória do adulto por embolia gordurosa no período pós-operatório de lipoaspiração e lipoenxertia e respondeu bem às manobras de recrutamento alveolar e à ventilação mecânica protetora.Apresentamos também uma análise epidemiológica e fisiopatológica da síndrome da embolia gordurosa após procedimentos estéticos.Fat embolism is defined as mechanical blockage of the vascular lumen by circulating fat globules. Although it primarily affects the lungs, it can also affect the central nervous system, retina, and skin. Fat embolism syndrome is a dysfunction of these organs caused by fat emboli. The most common causes of fat embolism and fat embolism syndrome are long bone fractures, although there are reports of its occurrence after cosmetic procedures. The diagnosis is made clinically, and treatment is still restricted to support measures. We report the case of a female patient who developed adult respiratory distress syndrome due to fat embolism in the postoperative period following liposuction and fat grafting. In this case, the patient responded well to alveolar recruitment maneuvers and protective mechanical ventilation. In addition, we present an epidemiological and pathophysiological analysis of fat embolism syndrome after cosmetic procedures.

  4. Cauda equina syndrome presenting as abdominal pain: a case report.

    LENUS (Irish Health Repository)

    Ellanti, Prasad

    2012-09-01

    Cauda equina syndrome (CES) is an uncommon entity. Symptoms include bowel and bladder dysfunction, saddle anesthesia, and varying degrees of lower limb motor and sensory disturbances. The consequences of delayed diagnosis can be devastating, resulting in bowel and bladder incontinence and lower limb paralysis. There is little in literature regarding abdominal pain as a significant feature of the initial presentation of CES. We present the case of a 32-year-old woman with CES who presented to the emergency department with gradually worsening lower abdominal pain.

  5. Guillain-Barre Syndrome Presenting as Acute Abdomen

    Directory of Open Access Journals (Sweden)

    Faruk incecik

    2015-09-01

    Full Text Available Guillain-Barr and eacute; syndrome (GBS is the most common cause of acute flaccid paralysis in childhood. Symmetric weakness, headache, respiratory symptom, neuropathic pain, muscle pain, paresthesia, and facial palsy were the most common clinical presentations. We report 13-year-old boy with GBS who presented with acute abdominal pain. This is the first report, to our knowledge, first presented of acute abdomen of a pediatric patient with GBS. [Cukurova Med J 2015; 40(3.000: 601-603

  6. Postoperative hypoxemia due to fat embolism

    Directory of Open Access Journals (Sweden)

    Tarun Bhalla

    2011-01-01

    Full Text Available Although the reported incidence of fat embolism syndrome (FES is low (approximately 1%, it is likely that microscopic fat emboli are showered during manipulation of long bone fractures. Even though there continues to be debate regarding the etiology and proposed mechanism responsible for FES, significant systemic manifestations may occur. Treatment is generally symptomatic based on the clinical presentations. We report a 10-year-old girl who developed hypoxemia following treatment of a displaced Salter-Harris type II fracture of the distal tibia. The subsequent evaluation and hospital course pointed to fat embolism as the most likely etiology for the hypoxemia. We discuss the etiology for FES, review the proposed pathophysiological mechanisms responsible for its clinical manifestations, present currently accepted diagnostic criteria, and discuss its treatment.

  7. Pulmonary Embolism

    Science.gov (United States)

    ... increase the risk for PE, such as: Being bedridden or unable to move around much Having surgery ... of pulmonary embolism (PE) include unexplained shortness of breath, problems breathing, chest pain, coughing , or coughing up ...

  8. Unusual presentation of prune belly syndrome: a case report.

    Science.gov (United States)

    Demisse, Abayneh Girma; Berhanu, Ashenafi; Tadesse, Temesgen

    2017-12-04

    Prune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period. In this case report, we describe a 12-year-old boy from Ethiopia with the triad of findings of prune belly syndrome along with skeletal malformations. We are unaware of any previous report of prune belly syndrome in Ethiopia. A 12-year-old Amhara boy from the Northwest Gondar Amhara regional state presented to our referral hospital with a complaint of swelling over his left flank for the past 3 months. Maternal pregnancy course and medical history were noncontributory, and he had an attended birth at a health center. He has seven siblings, none of whom had similar symptoms. On examination he had a distended abdomen, asymmetric with bulging left flank, visible horizontal line, upward umbilical slit, and absent rectus abdominis muscles. His abdomen was soft with a tender cystic, bimanually palpable mass on the left flank measuring 13 × 11 cm. Both testes were undescended and he also has developmental dysplasia of the hips. An abdominal ultrasound revealed a large cystic mass in his left kidney area with echo debris and a hip X-ray showed bilateral developmental dysplasia of the hip. Intraoperative findings were cystic left kidney, both testes were intraperitoneal, tortuous left renal vein, enlarged bladder reaching above umbilicus, and left megaureter. bilateral orchidectomy and left nephrectomy were done. He was given intravenously administered antibiotics for treatment of pyelonephritis and discharged home with an appointment for follow up and possible abdominoplasty. In the current report delayed presentation contributed to testicular atrophy and decision for orchidectomy. Furthermore, he will be at potential risk for sex hormone abnormality. Therefore, diagnosis of prune

  9. Unusual presentation of uncommon disease: anorexia nervosa presenting as wernicke-korsakoff syndrome-a case report from southeast Asia.

    Science.gov (United States)

    Mushtaq, Raheel; Shoib, Sheikh; Shah, Tabindah; Bhat, Mudasir; Singh, Randhir; Mushtaq, Sahil

    2014-01-01

    Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome.

  10. Intermittent Brugada Syndrome Presenting with Syncope in an Adult Female

    Directory of Open Access Journals (Sweden)

    Patricia Chavez

    2014-01-01

    Full Text Available Background. Brugada syndrome accounts for 4–12% of all sudden deaths worldwide and at least 20% of sudden deaths in patients with structurally normal hearts. Case Report. A 48-year-old female presented to the emergency department after two witnessed syncopal episodes. While awaiting discharge had a third collapse followed by cardiac arrest with shockable rhythm. Initial electrocardiogram showed wide QRS complex with left axis deviation, ST-segment elevation of 2 mm followed by a negative T wave with no isoelectric separation, suggestive of spontaneous intermittent Brugada type 1 pattern. Cardiac magnetic resonance imaging demonstrated neither structural heart disease nor abnormal myocardium. After placement of an implantable cardioverter defibrillator the patient was discharged. Why should an emergency physician be aware of this? Brugada syndrome is an infrequently encountered clinical entity which may have a fatal outcome. This syndrome primarily presents with syncope. It should be considered as a component of differential diagnosis in patients with family history of syncope and sudden cardiac death.

  11. Rendu-Osler-Weber syndrome presenting with pulmonary arteriovenous fistula

    International Nuclear Information System (INIS)

    Halefoglu, A.M.

    2005-01-01

    A pulmonary arteriovenous fistula is an abnormal connection between pulmonary arteries and veins. Patients with Rendu-Osler-Weber syndrome may present with this vascular malformation, which is a typical finding of the disease. Approximately 5-15% of Rendu-Osler-Weber syndrome patients have pulmonary arteriovenous malformations (AVM) and there is usually a family history of AVM in these patients. The malformations are usually located in the lower lobes. In this paper, I describe a 49-year-old male patient with dyspnoea, cough, haemoptysis and epistaxis. Physical examination showed nasal telangiectasias, cyanosis of the lips and nails, and a systolic bruit over the left lung. Chest X-ray revealed a 5-cm mass in the left lower lobe and after magnetic resonance examination, together with 3-D magnetic resonance angiography, it was demonstrated to be a pulmonary arteriovenous fistula. The history of a niece with a similar history of suspected pulmonary arteriovenous fistula led me to consider the possibility of Rendu-Osler-Weber syndrome presenting with a pulmonary arteriovenous fistula. Copyright (2005) Blackwell Science Pty Ltd

  12. Biventricular thrombus in hypereosinophilic syndrome presenting with shortness of breath

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    Abdul Baqi

    2016-06-01

    Full Text Available A 48 years old male presented to clinic with 12 months of low grade fever with shortness of breath which has progressively worsened with no associated weight loss, night sweats or loss of appetite. There was no prior history of chronic illness before the current illness. Laboratory workup revealed a high white blood cell count with predominant eosinophils. Chest X-ray was normal. Transthoracic echocardiography and Cardiac Magnetic Resonance showed biventricular thrombi. On further extensive workup the findings were consistent with hypereosinophilic syndrome. The patient was started on oral steroids, hydroxyurea, imatanib mesylate and oral anticoagulation. The patient responded to the treatment with complete resolution of his symptoms over the course of few months. The repeat Echocardiogram after a year showed normal left ventricular systolic and diastolic function with complete resolution of biventricular thrombi. Keywords: Hypereosinophilic syndrome, Thrombus

  13. A case of clinical Reye syndrome presenting characteristic CT changes

    International Nuclear Information System (INIS)

    Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo; Okuno, Takehiko.

    1984-01-01

    A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al. A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day. We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease. (author)

  14. Adrenocortical oncocytic neoplasm presenting with Cushing's syndrome: a case report

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    Kabayegit Ozlem

    2008-07-01

    Full Text Available Abstract Introduction Oncocytic neoplasms occur in several organs and are most commonly found in the thyroid, kidneys and salivary glands. Oncocytic neoplasms of the adrenal cortex are extremely rare and are usually non-functioning. Case presentation We report the case of an adrenocortical oncocytic neoplasm with uncertain malignant potential in a 31-year-old man with Cushing's syndrome. The patient had been operated on following diagnosis of a 7 cm adrenal mass. Following surgery, the Cushing's syndrome resolved. The patient is still alive with no metastases one year after the surgery. Conclusion Adrenocortical oncocytic neoplasms must be considered in the differential diagnosis of both functioning and non-functioning adrenal masses.

  15. Joubert syndrome with autism in two siblings: A rare presentation.

    Science.gov (United States)

    Raghavan, D Vijaya; Doshi, V Vimal; Nambi, Shanthi

    2016-01-01

    Joubert syndrome is a rare autosomal recessive disorder with partial or complete agenesis of cerebellar vermis. This syndrome is identified mainly by the presence of molar tooth sign in magnetic resonance imaging of the brain since it has a varied phenotypic presentation. Of the 200 cases reported so far in the literature, only three reports show the presence of autistic symptoms in siblings suggesting a link between the cerebellar vermis and autistic spectrum disorders. In this case report of two siblings, the female child satisfied the criterion for autistic spectrum disorder in accordance with Diagnostic and Statistical Manual of Mental Disorders Fifth Editon. The boy showed developmental delay with autistic features (not amounting to diagnostic threshold). This report is important in that it adds evidence to the literature that abnormalities of cerebellum are involved in the cognitive development and autistic symptoms.

  16. Cerebellar Cognitive Affective Syndrome Presented as Severe Borderline Personality Disorder

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    Danilo Pesic

    2014-01-01

    Full Text Available An increasing number of findings confirm the significance of cerebellum in affecting regulation and early learning. Most consistent findings refer to association of congenital vermis anomalies with deficits in nonmotor functions of cerebellum. In this paper we presented a young woman who was treated since sixteen years of age for polysubstance abuse, affective instability, and self-harming who was later diagnosed with borderline personality disorder. Since the neurological and neuropsychological reports pointed to signs of cerebellar dysfunction and dysexecutive syndrome, we performed magnetic resonance imaging of brain which demonstrated partially developed vermis and rhombencephalosynapsis. These findings match the description of cerebellar cognitive affective syndrome and show an overlap with clinical manifestations of borderline personality disorder.

  17. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

    Directory of Open Access Journals (Sweden)

    Gianluca Vergine

    2018-01-01

    Full Text Available Bartter syndrome (BS type 1 (OMIM #601678 is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

  18. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.

    Science.gov (United States)

    Vergine, Gianluca; Fabbri, Elena; Pedini, Annalisa; Tedeschi, Silvana; Borsa, Niccolò

    2018-01-01

    Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

  19. Kartagener's syndrome presented with nasal obstruction: A case report

    Directory of Open Access Journals (Sweden)

    Suna Asilsoy

    2014-08-01

    Full Text Available The nasal polyposis is a chronic inflammatory process of the nasal mucosa. Although it is rare in children, there may be also association with cystic fibrosis and primary ciliary dyskinesia. About 50% of primary ciliary dyskinesia patients develop situs inversus and it is known as Kartagener's syndrome. The Kartagener's sydrome is a rare autosomal recessive disorder characterized by sinusitis, bronchiectasis, situs inversus. Clinically, patients present to the otolaryngologist with nasal obstruction. We as pediatricians, should consider nasal polyposis as a rare cause of nasal obstruction in children. In the presence of recurrent upper and lower respiratory tract infections accompanying nasal polyposis, Kartagener's syndrome must be kept in mind as a rare reason. [Cukurova Med J 2014; 39(4.000: 942-945

  20. Case of clinical Reye syndrome presenting characteristic CT changes

    Energy Technology Data Exchange (ETDEWEB)

    Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo [Kyoto Second Red Cross Hospital (Japan); Okuno, Takehiko

    1984-05-01

    A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al. A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day. We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease.

  1. A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report.

    LENUS (Irish Health Repository)

    Chan, Jeffrey C Y

    2008-01-01

    Occupational overuse syndrome (OOS) can present as Guyon\\'s canal syndrome in computer keyboard users. We report a case of Guyon\\'s canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS.

  2. Macrophage Activation Syndrome as Initial Presentation of Systemic Lupus Erythematosus

    Directory of Open Access Journals (Sweden)

    Say-Tin Yeap

    2008-04-01

    Full Text Available Macrophage activation syndrome (MAS is known to be a severe and potentially life-threatening complication of rheumatic disorder, especially systemic juvenile rheumatoid arthritis. It is very rare for MAS to be an initial presentation of systemic lupus erythematosus (SLE. Here, we report a 14-year-old girl in whom MAS developed as an initial presentation of SLE. With early diagnosis and administration of cyclosporine A, she had a fair outcome. Further testing showed positive anti-dsDNA about 8 months later.

  3. Atypical presentation of posterior reversible encephalopathy syndrome: Two cases

    Directory of Open Access Journals (Sweden)

    Nishant Kumar

    2018-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a clinico-neuroradiological entity, first described in 1996. It is commonly associated with systemic hypertension, intake of immunosuppressant drugs, sepsis and eclampsia and preeclampsia. Headache, alteration in consciousness, visual disturbances and seizures are common manifestations of PRES. Signs of pyramidal tract involvement and motor dysfunction are uncommon clinical findings. However, clinical presentation is not diagnostic. On neuroimaging, lesions are characteristically found in parieto occipital region of the brain due to vasogenic edema. We report two cases of PRES with atypical clinical presentation-one which was suggestive of neurocysticercosis and the other in which agitation and opisthotonic posture were predominant features.

  4. Laryngeal carcinoma presenting as polymyositis: A paraneoplastic syndrome

    Directory of Open Access Journals (Sweden)

    Ritesh Sahu

    2016-01-01

    Full Text Available Laryngeal carcinoma is rarely associated with paraneoplastic syndrome. Inflammatory myopathy presenting as paraneoplastic event is commonly associated with carcinomas of ovary, lung, pancreas, stomach, colorectal, and non-Hodgkin′s lymphoma. We report a case of elderly male, who presented with proximal muscle weakness and found to be associated with laryngeal carcinoma. Diagnosis of polymyositis (PM was confirmed based on clinical features, laboratory test, and muscle biopsy. Exclusion of other commonly associated malignancies was done. This patient improved gradually after 6 months of immunosuppressive therapy and management of underlying cancer.

  5. Posterior Reversible Encephalopathy Syndrome Presenting as Stroke Mimic

    Directory of Open Access Journals (Sweden)

    Daniel Frick

    2017-05-01

    Full Text Available We present the case of a 33-year-old male with end stage renal disease presenting to the emergency department (ED with headache, dizziness, and unilateral weakness. Initial concern was for ischemic or hemorrhagic stroke. Magnetic resonance imaging confirmed posterior reversible encephalopathy syndrome (PRES. The patient was treated appropriately and made a full neurologic recovery. PRES is an under-recognized diagnosis in the ED. As a stroke mimic, PRES can lead the clinician on an incorrect diagnostic pathway with potential for iatrogenic harm.

  6. Sheehan's Syndrome Presenting with Early Postpartum Congestive Heart Failure

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    Shu-Yi Wang

    2005-08-01

    Full Text Available We report the case of a young woman with Sheehan's syndrome who presented with ventricular arrhythmia and congestive heart failure. The patient was admitted because of postpartum hemorrhage and hypovolemic shock; a massive blood transfusion was required to restore blood volume. After initial stabilization, the patient developed acute respiratory distress and congestive heart failure accompanied by hemodynamic instability 2 weeks after delivery. Episodes of ventricular tachycardia of the torsade de pointes type and a prolonged QT interval were noted on baseline electrocardiogram. A low cortisol level was found incidentally, which led to the suspicion of hypopituitarism. The diagnosis was later supported by laboratory findings of multiple pituitary hormone deficiencies. After administration of corticosteroids and thyroxine, the patient's clinical condition improved dramatically. A pituitary magnetic resonance imaging scan 32 days after delivery revealed a diminished and flattened pituitary gland with prominent intrasellar cerebrospinal fluid loculation, which was compatible with the clinical diagnosis of empty sella with panhypopituitarism. The syndrome of acute anterior pituitary necrosis secondary to postpartum hemorrhage and shock was first described by Sheehan in 1939. Although the occurrence of Sheehan's syndrome is now rare, it should still be considered in any woman with a history of peripartum hemorrhage who develops manifestations of pituitary hormone deficiency. Appropriate hormone replacement therapy is essential and always results in dramatic clinical improvement.

  7. Ovarian Hyperstimulation Syndrome Presenting with Polyserositis: A Case Report

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    Nilay Şengül Samancı

    2014-03-01

    Full Text Available Ovarian hyperstimulation syndrome (OHSS is an iatrogenic complication of ovulation induction with exogenous gonadotropins. Pleural effusion and abdominal ascites frequently accompany this syndrome. In this paper, we present the case of a 22-year-old female patient who was admitted to our clinic with the complaints of sudden chest pain and dyspnea and was treated with ovulation induction. Exudative pleural effusion and ascites were determined in the patient. Pelvic ultrasonography revealed enlarged ovaries with numerous follicular cysts compatible with ovarian hyperstimulation syndrome (OHSS. Her estradiol level was >5054 pg/ml. The diagnosis of OHSS was established after elimination of other causative factors of polyserositis (pleural effusion and ascites. The disappearance of pleural effusion and ascites spontaneously in a week supported our diagnosis. Herein, we aimed to emphasize that OHSS should be considered in the differential diagnosis of polyserositis in young female patients with a history of ovulation induction history. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 56-9

  8. Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome.

    Science.gov (United States)

    Bouchireb, Karim; Boyer, Olivia; Mansour-Hendili, Lamisse; Garnier, Arnaud; Heidet, Laurence; Niaudet, Patrick; Salomon, Remi; Poussou, Rosa Vargas

    2014-08-11

    Gitelman syndrome is an autosomal recessive tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. The majority of patients do not present with symptoms until late childhood or adulthood, and the symptoms are generally mild. We report here the first case of Gitelman syndrome presenting with the biological features of Fanconi syndrome and an early polyuria since the neonatal period. We discuss in this article the atypical electrolytes losses found in our patient, as well as the possible mechanisms of severe polyuria. A 6-year-old Caucasian girl was admitted via the Emergency department for vomiting, and initial laboratory investigations found hyponatremia, hypokalemia, metabolic acidosis with normal anion gap, hypophosphatemia, and hypouricemia. Urinalysis revealed Na, K, Ph and uric acid losses. Thus, the initial biological profile was in favor of a proximal tubular defect. However, etiological investigations were inconclusive and the patient was discharged with potassium chloride and phosphorus supplementation. Three weeks later, further laboratory analysis indicated persistent hypokalemia, a metabolic alkalosis, hypomagnesemia, and hypocalciuria. We therefore sequenced the SLC12A3 gene and found a compound heterozygosity for 2 known missense mutations. Gitelman syndrome can have varying and sometimes atypical presentations, and should be suspected in case of hypokalemic tubular disorders that do not belong to any obvious syndromic entity. In this case, the proximal tubular dysfunction could be secondary to the severe hypokalemia. This report emphasizes the need for clinicians to repeat laboratory tests in undiagnosed tubular disorders, especially not during decompensation episodes.

  9. The Role of Nonsteroidal Anti-Inflammatory Drugs (NSAIDs in the Management of the Post-Embolization Symptoms after Uterine Artery Embolization

    Directory of Open Access Journals (Sweden)

    Tiago Bilhim

    2010-05-01

    Full Text Available Uterine artery embolization (UAE is usually a very painful procedure. Although pain after the procedure can occur as a single symptom, it usually is associated with other symptoms such as nausea, vomiting, pelvic pain, general malaise, fever and leukocytosis that characterize the post-embolization syndrome. Management of the post-embolization symptoms and of pain in particular, is paramount if UAE is to be performed as an outpatient procedure. Different protocols have used analgesic and/or anti-inflammatory agents to control these symptoms. Nonsteroidal anti-inflammatory drugs (NSAIDs are frequently used in association with analgesic drugs to control post-embolization symptoms. In our institution the patients start oral medication with NSAIDs the day before the procedure and continue it during and after UAE. We also mix NSAIDs with the embolizing particles. This enables a reduction in the inflammation present in the uterine fibroids and helps controlling the pain. The purpose of this paper is to review the importance of NSAIDs in the management of the post-embolization symptoms. We describe the protocol that we use in our institution that enables us to perform the procedure on an outpatient basis with same day discharge and good control of the post-embolization symptoms with oral NSAIDs and analgesics.

  10. Gas embolism: pathophysiology and treatment

    NARCIS (Netherlands)

    van Hulst, Robert A.; Klein, Jan; Lachmann, Burkhard

    2003-01-01

    Based on a literature search, an overview is presented of the pathophysiology of venous and arterial gas embolism in the experimental and clinical environment, as well as the relevance and aims of diagnostics and treatment of gas embolism. The review starts with a few historical observations and

  11. [Constitutional syndrome as a presentation of a cerebellopontine meningioma].

    Science.gov (United States)

    Ruiz-Serrato, A; Mata-Palma, A; Olmedo-Llanes, J; García-Ordóñez, M A

    2014-03-01

    Meningiomas are basically benign tumours arising in the meninges and account for 15-25% of intracranial tumours in adults. It is clinically signs are due to compression of the neighbouring structures, with the main symptoms being migraine, behavioural changes, and neurological deficits. We present a case where constitutional syndrome was the first and principal manifestation of an intracranial cerebellopontine meningioma. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  12. A laryngeal presentation of Churg-Strauss syndrome in childhood

    International Nuclear Information System (INIS)

    AlAmmar, Ahmed Y; Yasin, Subhan S; AlMuhsen, Saleh Zaid; AlSaadi Muslim M; AlSohaibanic, Mohammad O

    2009-01-01

    A 10- year-old female, known to have bronchial asthma, presented with an unusual laryngeal lesion, eventually diagnosed as Churg-Strauss syndrome (CSS). She was referred to our hospital with history of recurrent stridor. On endoscopyhe, the larynx showed signs similar to recurrent respiratory papillomatosis (RRP). CSS is a systemic disorder and is now defined as one of the ANCA (antineutrophil cytoplasmic antibodies) - associated vasculitides. CSS is a systemic disease that may involve unusual sites like the laryynx. Such an unusual presenatation of CSS should be kept in mind, especially in patients with history of asthma. (author)

  13. A laryngeal presentation of Churg-Strauss syndrome in childhood

    Energy Technology Data Exchange (ETDEWEB)

    AlAmmar, Ahmed Y; Yasin, Subhan S; AlMuhsen, Saleh Zaid [Dept. of Otolaryngology, Head and Neck Surgery, King Abdulaziz Univ. Hospital, Riyadh (Saudi Arabia); M, AlSaadi Muslim [Dept. of Pediatrics, King Abdulaziz Univ. Hospital, Riyadh (Saudi Arabia); AlSohaibanic, Mohammad O [Dept. of Pathology, King Abdulaziz Univ. Hospital, Riyadh (Saudi Arabia)

    2009-07-01

    A 10- year-old female, known to have bronchial asthma, presented with an unusual laryngeal lesion, eventually diagnosed as Churg-Strauss syndrome (CSS). She was referred to our hospital with history of recurrent stridor. On endoscopyhe, the larynx showed signs similar to recurrent respiratory papillomatosis (RRP). CSS is a systemic disorder and is now defined as one of the ANCA (antineutrophil cytoplasmic antibodies) - associated vasculitides. CSS is a systemic disease that may involve unusual sites like the laryynx. Such an unusual presenatation of CSS should be kept in mind, especially in patients with history of asthma. (author)

  14. Atypical presentation of multiple evanescent white dot syndrome (MEWDS).

    Science.gov (United States)

    Yenerel, Nursal Melda; Kucumen, Beril; Gorgun, Ebru; Dinc, Umut Asli

    2008-01-01

    To present fundus autofluorescence (FAF), indocyanine green angiography (ICGA), and microperimetry (MP) findings of a patient with multiple evanescent white dot syndrome (MEWDS). Observational case report. A 30-year-old woman with blurry vision was referred for evaluation. Fundus examination revealed only foveal granularity. FAF showed hyperautofluorescent spots, although they were not visible clinically. On ICGA, matching areas were hypofluorescent. Microperimetry revealed mean sensitivity decrease. The resolution of the symptoms was followed by disappearance of these spots in FAF and ICGA and increase of mean macular sensitivity in MP. FAF is a noninvasive imaging technique that might help in the differential diagnosis of chorioretinal pathologies.

  15. Fat embolism after fractures in Duchenne muscular dystrophy: an underdiagnosed complication? A systematic review

    Directory of Open Access Journals (Sweden)

    Feder D

    2017-10-01

    Full Text Available David Feder,1 Miriam Eva Koch,1 Beniamino Palmieri,2 Fernando Luiz Affonso Fonseca,1 Alzira Alves de Siqueira Carvalho3 1Pharmacology Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil; 2Department of General Surgery and Surgical Specialties, University of Modena and Reggio Emilia Medical School, Surgical Clinic, Modena, Italy; 3Neuroscience Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil Abstract: Duchenne muscular dystrophy is the most frequent lethal genetic disease. Several clinical trials have established both the beneficial effect of steroids in Duchenne muscular dystrophy and the well-known risk of side effects associated with their daily use. For many years it has been known that steroids associated with ambulation loss lead to obesity and also damage the bone structure resulting in the bone density reduction and increased incidence of bone fractures and fat embolism syndrome, an underdiagnosed complication after fractures. Fat embolism syndrome is characterized by consciousness disturbance, respiratory failure and skin rashes. The use of steroids in Duchenne muscular dystrophy may result in vertebral fractures, even without previous trauma. Approximately 25% of patients with Duchenne muscular dystrophy have a long bone fracture, and 1% to 22% of fractures have a chance to develop fat embolism syndrome. As the patients with Duchenne muscular dystrophy have progressive cardiac and respiratory muscle dysfunction, the fat embolism may be unnoticed clinically and may result in increased risk of death and major complications. Different treatments and prevention measures of fat embolism have been proposed; however, so far, there is no efficient therapy. The prevention, early diagnosis and adequate symptomatic treatment are of paramount importance. The fat embolism syndrome should always be considered in patients with Duchenne muscular dystrophy presenting with fractures, or an unexplained and

  16. Delayed Presentation of Gluteal Compartment Syndrome: The Argument for Fasciotomy

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    John E. Lawrence

    2016-01-01

    Full Text Available A male patient in his fifties presented to his local hospital with numbness and weakness of the right leg which left him unable to mobilise. He reported injecting heroin the previous morning. Following an initial diagnosis of acute limb ischaemia the patient was transferred to a tertiary centre where Computed Tomography Angiography was reported as normal. Detailed neurological examination revealed weakness in hip flexion and extension (1/5 on the Medical Research Council scale with complete paralysis of muscle groups distal to this. Sensation to pinprick and light touch was globally reduced. Blood tests revealed acute kidney injury with raised creatinine kinase and the patient was treated for rhabdomyolysis. Orthopaedic referral was made the following day and a diagnosis of gluteal compartment syndrome (GCS was made. Emergency fasciotomy was performed 56 hours after the onset of symptoms. There was immediate neurological improvement following decompression and the patient was rehabilitated with complete nerve recovery and function at eight-week follow-up. This is the first documented case of full functional recovery following a delayed presentation of GCS with sciatic nerve palsy. We discuss the arguments for and against fasciotomy in cases of compartment syndrome with significant delay in presentation or diagnosis.

  17. A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome.

    Science.gov (United States)

    Hussain, Shabbir; Tarar, Saba Haider; Al-Muhaizae, Muhammad

    2015-04-01

    Bartter syndrome is an autosomal recessive renal tubulopathy that presents with hypokalemic, hypochloremic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninemia and hyperaldosteronemia but normotension. A full term male neonate was referred at 20-day of age with features of sepsis and respiratory distress. He was evaluated and managed as case of septicemia with all supportive paraphernalia including mechanical ventilation. Investigations revealed electrolytes imbalance and metabolic alkalosis suggestive of Neonatal Bartter Syndrome (NBS). Raised aldosterone and renin levels confirmed the diagnosis. Electrolyte imbalance was corrected with fluids and indomethacin, treated successfully, discharged and parents counseled. He was thriving well at 9 months of age. Another 2 months old male baby presented with recurrent episodes of lethargy with dehydration and failure to gain weight. Investigations confirmed the diagnosis of NBS. He was also successfully treated with same medication. We report these 2 cases because of the rarity of NBS, presentation of which may mimic common illnesses like sepsis and gastroenteritis.

  18. Treatment of Pusher Syndrome in a patient after extensive cerebral infarction caused by cerebral embolism - case report

    Directory of Open Access Journals (Sweden)

    Piotr Porzych

    2017-08-01

    Full Text Available Pusher Syndrome is defined as a disorder of perception of body orientation in the frontal plane. It is mainly observed in patients after stroke in consequence to damage to the right or left hemisphere of the brain. Characteristic clinical symptoms in people affected by this syndrome are leaning towards the paralyzed side of the body and building massive resistance during passive correction. The consequence of such behavior are falls in the direction of the affected side. The paper presents the case of a patient who, after extensive right hemisphere cerebral hemorrhage, was admitted to the Chair and Department of Rehabilitation Medicine of the Dr Antoni Jurasz University Hospital No.1 in Bydgoszcz to improve. During treatment the patient was used the neurorehabilitation based on the Bobath concept.

  19. Autoimmune Progesterone Dermatitis Presenting as Stevens-Johnson Syndrome.

    Science.gov (United States)

    Drayer, Sara M; Laufer, Larry R; Farrell, Maureen E

    2017-10-01

    Autoimmune progesterone dermatitis is an uncommon disease presenting with cyclical skin eruptions corresponding with the menstrual cycle luteal phase. Because symptoms are precipitated by rising progesterone levels, treatment relies on hormone suppression. A 22-year-old nulligravid woman presented with symptoms mistaken for Stevens-Johnson syndrome. A cyclic recurrence of her symptoms was noted, and the diagnosis of autoimmune progesterone dermatitis was made by an intradermal progesterone challenge. After 48 months, she remained refractory to medical management and definitive surgical treatment with bilateral oophorectomy was performed. Autoimmune progesterone dermatitis is a challenging diagnosis owing to its rarity and variety of clinical presentations. Treatment centers on suppression of endogenous progesterone and avoidance of exogenous triggers. When these modalities fail, surgical management must be undertaken.

  20. Laugier-Hunziker Syndrome Presenting with Metachronous Melanoacanthomas.

    Science.gov (United States)

    Zaki, Hattan; Sabharwal, Amarpreet; Kramer, Jill; Aguirre, Alfredo

    2018-02-15

    Laugier-Hunziker syndrome (LHS, also termed idiopathic lenticular mucocutaneous hyperpigmentation) is an unusual condition characterized by progressive pigmentation of the mucous membranes. LHS displays a benign course and is not associated with malignancy. Here we present a case of LHS with a 7-year follow-up. We document metachronous oral melanoacanthomas in this individual. In addition, we found that the oral melanotic macules in this patient waxed and waned in a cyclical manner. To our knowledge, this is the first report of these findings in the context of LHS. Finally, we provide an overview of other conditions that can present with mucosal hyperpigmentation. It is critical to distinguish LHS from other conditions characterized by mucosal pigmentation in order to facilitate optimal patient care.

  1. Catastrophic Antiphospholipid Syndrome Presenting as Bilateral Central Retinal Artery Occlusions

    Directory of Open Access Journals (Sweden)

    Steven S. Saraf

    2015-01-01

    Full Text Available A previously healthy 22-year-old African American woman presented with bilateral vision loss associated with headache. Her ocular examination was significant for bilateral retinal arterial “boxcarring,” retinal whitening, retinal hemorrhages, and cherry red spots. She was diagnosed with bilateral central retinal artery occlusions and was hospitalized due to concomitant diagnosis of stroke and hypercoagulable state. She was also found to be in heart failure and kidney failure. Rheumatology was consulted and she was diagnosed with catastrophic antiphospholipid syndrome in association with systemic lupus erythematosus. Approximately 7 months after presentation, the patient’s vision improved and remained stable at 20/200 and 20/80.

  2. Rarity of isolated pulmonary embolism and acute aortic syndrome occurring outside of the field of view of dedicated coronary CT angiography

    International Nuclear Information System (INIS)

    Lee, Hwa Yeon; Song, In Sup; Yoo, Seung Min; Rho, Ji Young; Moon, Jae Youn; Kim, In Jai; Lim, Sang Wook; Sung, Jung Hoon; Cha, Dong Hun; White, Charles S.

    2011-01-01

    Background Although triple rule-out CT angiography (TRO) to simultaneously evaluate acute coronary syndrome (ACS), pulmonary embolism (PE), and acute aortic syndrome (AAS) is increasingly used in many institutions, TRO is inevitably associated with increased radiation exposure due to extended z-axis coverage compared with dedicated coronary CT angiography (DCTA). Purpose To determine the frequency of exclusion of findings of AAS, PE, and significant incidental non-cardiac pathology that may be the cause of acute chest pain when using a restricted DCTA field of view (FOV). Material and Methods We retrospectively reviewed CT images and charts of 103 patients with acute PE and 50 patients with AAS. Either non-ECG gated dedicated pulmonary or aortic CT angiography was performed using 16- or 64-slice multidetector CT (MDCT). We analyzed the incidence of isolated PE, AAS, or significant non-cardiac pathology outside of DCTA FOV (i.e. from tracheal carina to the base of heart). Results There were two cases of isolated PE (2/103, 1.9%) excluded from the FOV of DCTA. One case of PE was isolated to the subsegmental pulmonary artery in the posterior segment of the right upper lobe. In the second case, pulmonary embolism in the left main pulmonary artery was located out of the FOV of DCTA because the left main pulmonary artery was retracted upwardly by fibrotic scar in the left upper lobe due to prior tuberculosis. There was no case of AAS and significant non-cardiac pathology excluded from the FOV of DCTA. AAS (n = 50) consisted of penetrating atherosclerotic ulcer (n = 7), intramural hematoma (n = 5) and aortic dissection (n = 38). Conclusion As isolated PE, AAS, and significant non-cardiac pathology outside of the DCTA FOV rarely occur, DCTA may replace TRO in the evaluation of patients with non-specific acute chest pain and a low pre-test probability of PE or aortic dissection

  3. Rarity of isolated pulmonary embolism and acute aortic syndrome occurring outside of the field of view of dedicated coronary CT angiography

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hwa Yeon; Song, In Sup (Dept. of Diagnostic Radiology Chung-Ang Univ. College of Medicine, Seoul (Korea, Republic of)); Yoo, Seung Min; Rho, Ji Young (Dept. of Diagnostic Radiology CHA Medical Univ. Hospital, Bundang (Korea, Republic of)), email: smyoo68@hanmail.net; Moon, Jae Youn; Kim, In Jai; Lim, Sang Wook; Sung, Jung Hoon; Cha, Dong Hun (Dept. of Cardiology CHA Medical Univ. Hospital, Bundang (Korea, Republic of)); White, Charles S. (Dept. of Diagnostic Radiology Univ. of Maryland, Baltimore (United States))

    2011-05-15

    Background Although triple rule-out CT angiography (TRO) to simultaneously evaluate acute coronary syndrome (ACS), pulmonary embolism (PE), and acute aortic syndrome (AAS) is increasingly used in many institutions, TRO is inevitably associated with increased radiation exposure due to extended z-axis coverage compared with dedicated coronary CT angiography (DCTA). Purpose To determine the frequency of exclusion of findings of AAS, PE, and significant incidental non-cardiac pathology that may be the cause of acute chest pain when using a restricted DCTA field of view (FOV). Material and Methods We retrospectively reviewed CT images and charts of 103 patients with acute PE and 50 patients with AAS. Either non-ECG gated dedicated pulmonary or aortic CT angiography was performed using 16- or 64-slice multidetector CT (MDCT). We analyzed the incidence of isolated PE, AAS, or significant non-cardiac pathology outside of DCTA FOV (i.e. from tracheal carina to the base of heart). Results There were two cases of isolated PE (2/103, 1.9%) excluded from the FOV of DCTA. One case of PE was isolated to the subsegmental pulmonary artery in the posterior segment of the right upper lobe. In the second case, pulmonary embolism in the left main pulmonary artery was located out of the FOV of DCTA because the left main pulmonary artery was retracted upwardly by fibrotic scar in the left upper lobe due to prior tuberculosis. There was no case of AAS and significant non-cardiac pathology excluded from the FOV of DCTA. AAS (n = 50) consisted of penetrating atherosclerotic ulcer (n = 7), intramural hematoma (n = 5) and aortic dissection (n = 38). Conclusion As isolated PE, AAS, and significant non-cardiac pathology outside of the DCTA FOV rarely occur, DCTA may replace TRO in the evaluation of patients with non-specific acute chest pain and a low pre-test probability of PE or aortic dissection

  4. CONSUMPTIVE SYNDROME INTO PLEUROPERICARDITIS – AN ATYPICAL PRESENTATION

    Directory of Open Access Journals (Sweden)

    Paloma Manea

    2012-09-01

    Full Text Available The clinical case here presented refers to a 67 year-old female patient who had a weight loss of 15 kilograms, during 6 months, with associated fever, anorexia and dispneea. The patient came to a stomatological consultation because she had pains during mastication and she thought of a possible consumptive syndrome. The dentist diagnosed oral aphthous lesions, secondary to a general disease and recommended a clinical examination. A chest radiography revealed pleural effusion, and the patient was admitted to the Thoracic Surgery Clinics, Iasi. The cytology of the pleural liquid was represented by lymphocites (80%.The biopsy of pericardium and pleura revealed inflammatory infiltrates with limphocites. The adenosine deaminasa activity was 30U/l (pleural effusion and 25 U/l (pericardial liquid. Antituberculosis therapy and small doses of corticosteroids were recommended. Along the subsequent 1, 2 and 6 months, the evolution was favourable.

  5. Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation.

    Science.gov (United States)

    Warsi, Qurratul; Kirby, Caroline; Beg, Mirza

    2017-01-01

    Dysphagia is a condition in which disruption of the swallowing process interferes with a patient's ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS) is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia. Dysphagia as a result of TS generally affects female, elderly patients and is not reported in children. While the pathophysiology is relatively unknown, experts believe TS is closely linked to damage or abnormalities in the basal ganglia of the brain. We present this interesting pediatric case of dysphagia due to EoE, which had been previously thought to be related to the patient's TS.

  6. Clinical presentation and management of neonatal abstinence syndrome: an update

    Directory of Open Access Journals (Sweden)

    Ordean A

    2014-04-01

    Full Text Available Alice Ordean,1 Brian C Chisamore21Department of Family Medicine, 2Department of Pediatrics, St Joseph's Health Centre, and University of Toronto, Toronto, ON, CanadaAbstract: Exposure to prescription medications and illicit drug use during pregnancy has been associated with neonatal abstinence syndrome. The clinical presentation consists of neurological respiratory, gastrointestinal, and vasomotor disturbances. All infants require observation and supportive care to ensure appropriate adaptation and growth in the newborn period. A smaller percentage may also require additional pharmacotherapy, depending on the specific gestational substance exposure. Women should be counseled antenatally about the possible neonatal effects, and mother–baby dyad care should be implemented for this particular patient population.Keywords: neonatal withdrawal, opioids, marijuana, cocaine, benzodiazepines, selective serotonin reuptake inhibitors

  7. Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation

    Directory of Open Access Journals (Sweden)

    Qurratul Warsi

    2017-03-01

    Full Text Available Dysphagia is a condition in which disruption of the swallowing process interferes with a patient’s ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia. Dysphagia as a result of TS generally affects female, elderly patients and is not reported in children. While the pathophysiology is relatively unknown, experts believe TS is closely linked to damage or abnormalities in the basal ganglia of the brain. We present this interesting pediatric case of dysphagia due to EoE, which had been previously thought to be related to the patient’s TS.

  8. Sarcoidosis Presenting as Löfgren’s Syndrome with Myopathy

    Directory of Open Access Journals (Sweden)

    Şenol Kobak

    2013-01-01

    Full Text Available A 34-year-old female patient, who had proximal muscle weakness for 8 months, presented with erythema nodosum lesions on the pretibial region in addition to pain, swelling, and movement restriction in both ankles for the last one month. Thoracic CT demonstrated hilar and mediastinal lymphadenopathy. She underwent mediastinoscopic lymph node biopsy; biopsy result was consistent with noncaseating granuloma. Serum angiotensin converting enzyme level and muscle enzymes have been elevated. Muscular MRI and EMG findings were consistent with myositis. Muscle biopsy was done, and myopathy was found. The patient was diagnosed with sarcoidosis, Löfgren's syndrome, and sarcoid myopathy. The patient displayed remarkable clinical and radiological regression after 6-month corticosteroid and MTX therapy.

  9. Transcatheter Arterial Embolization for Upper Gastrointestinal Nonvariceal Hemorrhage: Is Empiric Embolization Warranted?

    Energy Technology Data Exchange (ETDEWEB)

    Arrayeh, Elnasif; Fidelman, Nicholas, E-mail: nicholas.fidelman@ucsf.edu; Gordon, Roy L.; LaBerge, Jeanne M.; Kerlan, Robert K. [University of California San Francisco, Department of Radiology (United States); Klimov, Alexander; Bloom, Allan I. [Hadassah Hospital, Department of Radiology (Israel)

    2012-12-15

    Purpose: To determine whether transcatheter arterial embolization performed in the setting of active gastric or duodenal nonvariceal hemorrhage is efficacious when the bleeding source cannot be identified angiographically. Methods: Records of 115 adult patients who underwent visceral angiography for endoscopically documented gastric (50 patients) or duodenal (65 patients) nonvariceal hemorrhage were retrospectively reviewed. Patients were subdivided into three groups according to whether angiographic evidence of arterial hemorrhage was present and whether embolization was performed (group 1 = no abnormality, no embolization; group 2 = no abnormality, embolization performed [empiric embolization]; and group 3 = abnormality present, embolization performed). Thirty-day rates and duration of primary hemostasis and survival were compared.ResultsFor patients with gastric sources of hemorrhage, the rate of primary hemostasis at 30 days after embolization was greater when embolization was performed in the setting of a documented angiographic abnormality than when empiric embolization was performed (67% vs. 42%). The rate of primary hemostasis at 30 days after angiography was greater for patients with duodenal bleeding who either underwent empiric embolization (60%) or embolization in the setting of angiographically documented arterial hemorrhage (58%) compared with patients who only underwent diagnostic angiogram (33%). Patients with duodenal hemorrhage who underwent embolization were less likely to require additional invasive procedures to control rebleeding (p = 0.006). Conclusion: Empiric arterial embolization may be advantageous in patients with a duodenal source of hemorrhage but not in patients with gastric hemorrhage.

  10. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

    Directory of Open Access Journals (Sweden)

    Néstor Pacenza

    2012-01-01

    Full Text Available The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%. Most of the patients (83.7% showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.

  11. Nephrocalcinosis as adult presentation of Bartter syndrome type II.

    Science.gov (United States)

    Huang, L; Luiken, G P M; van Riemsdijk, I C; Petrij, F; Zandbergen, A A M; Dees, A

    2014-02-01

    Bartter syndrome consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria and hyperreninaemic hyperaldosteronism. It is classified into five types. Mutations in the KCNJ1 gene (classified as type II) usually cause the neonatal form of Bartter syndrome. We describe an adult patient with a homozygous KCNJ1 mutation resulting in a remarkably mild phenotype of neonatal type Bartter syndrome.

  12. Advanced Prostate Cancer Presenting as Hemolytic Uremic Syndrome

    Directory of Open Access Journals (Sweden)

    R. Ramos

    2013-01-01

    Full Text Available Introduction. Hemolytic uremic syndrome (HUS is characterized by endothelial dysfunction, consumption thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. HUS generally has a dismal prognosis, except when associated with gastroenteritis caused by verotoxin-producing bacteria. Cancer associated HUS is uncommon, and there are only scarce reports on prostate cancer presenting with HUS. Case Presentation. A 72-year-old man presented to the emergency department with oliguria, hematuria, and hematemesis. Clinical evaluation revealed acute renal failure, hemolysis, normal blood-clotting studies, and prostate-specific antigen value of 1000 ng/mL. The patient was started on hemodialysis, ultrafiltration with plasma exchange, and androgen blockade with bicalutamide and completely recovered from HUS. The authors review the 14 published cases on this association. Conclusion. The association of HUS and prostate cancer occurs more frequently in patients with high-grade, clinically advanced prostate cancer. When readily recognized and appropriately treated, HUS does not seem to worsen prognosis in prostate cancer patients.

  13. Neck-to-shoulder pain as an unusual presentation of pulmonary embolism in a patient with cervical spinal cord injury: A case report.

    Science.gov (United States)

    Lee, Dong Gyu; Chang, Min Cheol

    2017-10-01

    Information on referred pain can be helpful for diagnosing diseases of the visceral organs. Here, the authors report a patient with cervical spinal cord injury (SCI) who had referred pain at the right side from the neck to shoulder, as a presentation of pulmonary embolism (PE). A 55-year-old man with complete tetraplegia, due to cervical SCI after C5 and C6 vertebral body fracture, complained of right neck-to-shoulder pain (numerical scale rating: 6). Despite pain medication (meloxicam 15 mg, gabapentin 400 mg, and propacetamol HCl 1 g), the pain was not reduced. Along with right neck-to-shoulder pain, he presented mild fever (37.8°C) and mildly elevated respiratory rate (20 breaths/min). D-dimer level was also mildly elevated to 6.09 mg/mL (normal value: pain completely disappeared. This study shows that pain at the neck-to-shoulder area can occur following unexpected causes such as PE. Not limited to PE, the evaluation of diseases in the thoracic or abdominal organs is recommended if patients with cervical SCI present refractory pain in the dermatomes innervated by high cervical nerve roots.

  14. Delayed presentation of turner syndrome: Challenge to optimal management

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    Uma Kaimal Saikia

    2017-01-01

    Full Text Available Background: Turner syndrome (TS is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Their age, mode of presentation, and clinical features were noted. All participants underwent ear examination, echocardiography, and ultrasonography of the abdomen. Laboratory investigations included serum T4, thyroid-stimulating hormone, thyroid peroxidase antibodies, follicle-stimulating hormone, fasting, and 2-h plasma glucose after 75 g glucose load and a karyotype. Simple descriptive statistical methods were used. Results: Seventeen cases of TS were seen with a median age of presentation of 18 years (range 14–42 years. Primary amenorrhea was the most common reason for seeking medical attention (76.4% followed by short stature and diabetes mellitus (11.8% each. The mean height at presentation was 137.5 ± 5.4 cm. Monosomy of X chromosome (45,X was the most common karyotype obtained in 58.8% of the patients, followed by 45,X/46, XX in 17.6%, 45,X/46X,i(X(q10 in 11.8%, and 45,X/47,XXX and 46X,delXp11.2 in 5.9% patients each. Bicuspid aortic valve was seen in two patients having a 45,X/46,XX karyotype. Conclusion: Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting.

  15. Mitochondrial DNA depletion syndrome presenting with ataxia and ...

    African Journals Online (AJOL)

    Laila Selim

    2012-07-24

    Jul 24, 2012 ... Sequencing analysis of the TK2 gene revealed no sequence variation. ... the pathogenesis of the myopathic form of mitochondrial depletion syndrome should be ..... [39,40]. However, the biochemical evidence of deficiency of.

  16. CASE REPORT Triple A syndrome presenting with myopathy: An ...

    African Journals Online (AJOL)

    salah

    characterized by Adrenocorticotropic hormone resistant adrenal insufficiency,. Alacrmia, Achalasia of the oesophageal cardia, ... with muscular weakness that was confirmed by EMG studies. To our knowledge, muscle disease in Allogrove syndrome was not reported before. Corresponding Author: Rabah M. Shawky.

  17. Sjogrens Syndrome Presenting with Central Nervous System Involvement

    Directory of Open Access Journals (Sweden)

    Tülay Terzi

    2012-01-01

    Full Text Available Sjogren’s syndrome is a slowly progressive autoimmune disease. Neurological involvement occurs in approximately 20-25% cases in Sjogren’s syndrome. 87% of the neurological involvement is peripheral nervous system, almost 13% in the form of central nervous system involvement. Affected central nervous system may show similar clinical and radiological findings as in multiple sclerosis (MS. In this paper, a 43-year-old patient is discussed who was referred with the complaint of dizziness, there was MS- like lesions in brain imaging studies and was diagnosed with Sjogren’s syndrome. MS- like clinical and radiologic tables can be seen, albeit rarely in Sjogren’s syndrome. In these cases, early diagnosis and early treatment for the sjögren has a great importance for the prognosis of the disease.

  18. Down syndrome and moyamoya: clinical presentation and surgical management.

    Science.gov (United States)

    See, Alfred P; Ropper, Alexander E; Underberg, Daniel L; Robertson, Richard L; Scott, R Michael; Smith, Edward R

    2015-07-01

    OBJECT Moyamoya can cause cerebral ischemia and stroke in Down syndrome (DS) patients. In this study, the authors defined a surgically treated population of patients with DS and moyamoya and compared their clinical presentation, response to surgical treatment, and long-term prognosis with those of the general population of patients with moyamoya but without DS. METHODS This study was a retrospective review of a consecutive operative series of moyamoya patients with DS treated at Boston Children's Hospital from 1985 through 2012. RESULTS Thirty-two patients, average age 9.7 years (range 1.8-29.3 years), underwent surgery for moyamoya in association with DS. The majority presented with ischemic symptoms (87% stroke, 42% transient ischemic attacks). Twenty-four patients (75%) had congenital heart disease. Nineteen patients (59%) had bilateral moyamoya on presentation, and 13 presented with unilateral disease, of which 2 progressed to surgery on the opposite side at a later date. Patients were followed for a median of 7.5 years (1-20.2 years) after surgery, with no patients lost to follow-up. Follow-up arteriography demonstrated Matsushima Grade A collaterals in 29 of 39 (74%) hemispheres, Grade B in 5 (13%), and Grade C in 5 (13%). Complications included postoperative strokes in 2 patients, which occurred within 48 hours of surgery in both; one of these patients had arm weakness and the other confusion (both had recovered completely at follow-up). Seizures occurred in 5 patients perioperatively, including one who had a new seizure disorder related to hypocalcemia. CONCLUSIONS Moyamoya disease is a cause of stroke in patients with DS. Both the incidence of preoperative stroke (87% vs 67%) and the average age at diagnosis for children under age 21 (8.4 vs 6.5 years) were greater in patients with DS and moyamoya than in the general moyamoya surgical population, suggesting a possible delay in reaching a correct diagnosis of the cause of cerebral ischemia in the DS patient

  19. Bartter syndrome presenting as poor weight gain and abdominal mass in an infant.

    Science.gov (United States)

    Heffernan, Annie; Steffensen, Thora S; Gilbert-Barness, Enid; Perlman, Sharon

    2008-01-01

    Bartter syndrome, a group of disorders that encompasses multiple genetic defects with similar clinical presentation, has been divided into six different genotypes, according to different genetic defects, and into three main clinical variants (or phenotypes). Classic laboratory findings in all variants include hypochloremia, hypokalemia, and metabolic alkalosis with excessive excretion of chloride and potassium. Classic Bartter syndrome, neonatal Bartter syndrome, and Gitelman syndrome are the three main clinical variants. Classic Bartter syndrome and neonatal Bartter syndrome have defects in genes that affect transport channels in the ascending loop of Henle, where as in Gitleman syndrome the defect occurs in the transport channels of the distal convoluted tubule. Classic Bartter syndrome and neonatal Bartter syndrome have similar presenting symptoms, potential outcomes, and treatment, but different ages at presentation. Gitelman syndrome, a more benign condition than the other clinical variants, has the classic hallmark finding of hypomagnesemia and low to normal excretion of calcium. This differentiates it from the classic and neonatal variants of the disease. With early diagnosis and proper treatment, Bartter syndrome has a good prognosis. But failure to identify it can lead to tubulointerstitial nephritis and renal failure. We present a case of a 6-month-old boy with Bartter syndrome who presented with poor weight gain and an abdominal mass.

  20. Past and present in abdominal surgery management for Cushing's syndrome.

    Science.gov (United States)

    Vilallonga, Ramon; Zafon, Carles; Fort, José Manuel; Mesa, Jordi; Armengol, Manel

    2014-01-01

    Data on specific abdominal surgery and Cushing's syndrome are infrequent and are usually included in the adrenalectomy reports. Current literature suggests the feasibility and reproducibility of the surgical adrenalectomies for patients diagnosed with non-functioning tumours and functioning adrenal tumours including pheochromocytoma, Conn's syndrome and Cushing's syndrome. Medical treatment for Cushing's syndrome is feasible but follow-up or clinical situations force the patient to undergo a surgical procedure. Laparoscopic surgery has become a gold standard nowadays in a broad spectrum of pathologies. Laparoscopic adrenalectomies are also standard procedures nowadays. However, despite the different characteristics and clinical disorders related to the laparoscopically removed adrenal tumours, the intraoperative and postoperative outcomes do not significantly differ in most cases between the different groups of patients, techniques and types of tumours. Tumour size, hormonal type and surgeon's experience could be different factors that predict intraoperative and postoperative complications. Transabdominal and retroperitoneal approaches can be considered. Outcomes for Cushing's syndrome do not differ depending on the surgical approach. Novel technologies and approaches such as single-port surgery or robotic surgery have proven to be safe and feasible. Laparoscopic adrenalectomy is a safe and feasible approach to adrenal pathology, providing the patients with all the benefits of minimally invasive surgery. Single-port access and robotic surgery can be performed but more data are required to identify their correct role between the different surgical approaches. Factors such as surgeon's experience, tumour size and optimal technique can affect the outcomes of this surgery.

  1. Case report and systematic literature review of a novel etiology of sinistral portal hypertension presenting with UGI bleeding: Left gastric artery pseudoaneurysm compressing the splenic vein treated by embolization of the pseudoaneurysm.

    Science.gov (United States)

    Hakim, Seifeldin; Bortman, Jared; Orosey, Molly; Cappell, Mitchell S

    2017-03-01

    A novel case is reported of upper gastrointestinal (UGI) bleeding from sinistral portal hypertension, caused by a left gastric artery (LGA) pseudoaneurysm (PA) compressing the splenic vein (SV) that was successfully treated with PA embolization. A 41-year-old man with previous medical history of recurrent, alcoholic pancreatitis presented with several episodes of hematemesis and abdominal pain for 48 hours. Physical examination revealed a soft abdomen, with no abdominal bruit, no pulsatile abdominal mass, and no stigmata of chronic liver disease. The hemoglobin declined acutely from 12.3 to 9.3 g/dL. Biochemical parameters of liver function and routine coagulation profile were entirely within normal limits. Abdominal CT revealed a 5-cm-wide peripancreatic mass compressing the stomach and constricting the SV. Esophagogastroduodenoscopy showed blood oozing from portal hypertensive gastropathy, small nonbleeding gastric cardial and fundal varices, gastric compression from the extrinsic mass, and no esophageal varices. MRCP and angiography showed that the mass was vascular, arose from the LGA, compressed the mid SV without SV thrombosis, and caused sinistral portal hypertension. At angiography, the PA was angioembolized and occluded. The patient has been asymptomatic with no further bleeding and a stable hemoglobin level during 8 weeks of follow-up. Literature review of the 14 reported cases of LGA PA revealed that this report of acute UGI bleeding from sinistral portal hypertension from a LGA PA constricting the SV is novel; one previously reported patient had severe anemia without acute UGI bleeding associated with sinistral portal hypertension from a LGA PA. A patient presented with UGI bleeding from sinistral portal hypertension from a LGA PA compressing the SV that was treated by angiographic obliteration of the PA which relieved the SV compression and arrested the UGI bleeding. Primary therapy for this syndrome should be addressed to obliterate the PA and not

  2. Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation

    Directory of Open Access Journals (Sweden)

    Rupesh Kumar

    2014-01-01

    Full Text Available Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Its incidence is one in 100,000 live births. Approximately three out of four patients have some cardiac abnormality with common associations being either an atrial septal defect or ventricular septal defect. Herein, we report a rare sporadic case of Holt-Oram syndrome with atrial septal defect with symptoms of heart failure in a forty-five-year-old lady who underwent emergency cardiac surgery for the symptoms.

  3. Chediak-Higashi syndrome presenting in the accelerated phase

    African Journals Online (AJOL)

    Chediak-Higashi syndrome (CHS) is an extremely rare autosomal recessive disorder characterised by recurrent pyogenic ... Genetic studies suggest a mutation in the lysosomal trafficking ... neuropathy and seizures in adolescence and early adulthood. ... of ataxia, tremors, muscle weakness, sensory loss, cranial nerve. Fig.

  4. Kleine-Levin syndrome as a neuropsychiatric presentation: A case ...

    African Journals Online (AJOL)

    2014-07-02

    Jul 2, 2014 ... describes a case of typical KLS, the first to be documented in South. Africa (SA), and ... re admitted with a second episode of aggression, hypersomnia, headaches .... of KLS, Arnulf et al. ... Neurol 2010;13(4):241-246. ... Muratori F, Bertini N, Masi G. Efficacy of lithium treatment in Kleine-Levin syndrome. Eur.

  5. Presenting Symptoms in Pediatric Restless Legs Syndrome Patients

    NARCIS (Netherlands)

    de Weerd, Al; Arico, Irene; Silvestri, Rosalia

    2013-01-01

    Objective: The diagnosis restless legs syndrome (RLS) in children depends on the history told by the child and his parents. The description of symptoms given by the child him or herself is most important. Additional criteria are, among others, the results of polysomnography (PSG). Description of the

  6. Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

    OpenAIRE

    Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

    2012-01-01

    Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

  7. Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

    Science.gov (United States)

    Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

    2015-01-01

    Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

  8. Early presentation of gait impairment in Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Pickett Kristen A

    2012-12-01

    Full Text Available Abstract Background Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS is also associated with atypical brainstem and cerebellar findings in the first decade of life. As such, we hypothesized that gait differences between individuals with WFS and typically developing (TD individuals may be detectable across the course of the disease. Methods Gait was assessed for 13 individuals with WFS (min 6.4 yrs, max 25.8 yrs and 29 age-matched, typically developing individuals (min 5.6 yrs, max 28.5 yrs using a GAITRite ® walkway system. Velocity, cadence, step length, base of support and double support time were compared between groups. Results Across all tasks, individuals with WFS walked slower (p = 0.03, took shorter (p ≤ 0.001 and wider (p ≤ 0.001 steps and spent a greater proportion of the gait cycle in double support (p = 0.03 compared to TD individuals. Cadence did not differ between groups (p = 0.62. Across all tasks, age was significantly correlated with cadence and double support time in the TD group but only double support time was correlated with age in the WFS group and only during preferred pace forward (rs= 0.564, p = 0.045 and dual task forward walking (rs= 0.720, p = 0.006 tasks. Individuals with WFS also had a greater number of missteps during tandem walking (p ≤ 0.001. Within the WFS group, spatiotemporal measures of gait did not correlate with measures of visual acuity. Balance measures negatively correlated with normalized gait velocity during fast forward walking (rs = −0.59, p = 0.03 and percent of gait cycle in double support during backward walking (rs = −0.64, p = 0.03. Conclusions Quantifiable gait impairments can be detected in individuals with WFS earlier than previous clinical observations suggested. These impairments are not fully accounted for by the visual or balance deficits

  9. Early presentation of gait impairment in Wolfram Syndrome.

    Science.gov (United States)

    Pickett, Kristen A; Duncan, Ryan P; Hoekel, James; Marshall, Bess; Hershey, Tamara; Earhart, Gammon M

    2012-12-08

    Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS) is also associated with atypical brainstem and cerebellar findings in the first decade of life. As such, we hypothesized that gait differences between individuals with WFS and typically developing (TD) individuals may be detectable across the course of the disease. Gait was assessed for 13 individuals with WFS (min 6.4 yrs, max 25.8 yrs) and 29 age-matched, typically developing individuals (min 5.6 yrs, max 28.5 yrs) using a GAITRite ® walkway system. Velocity, cadence, step length, base of support and double support time were compared between groups. Across all tasks, individuals with WFS walked slower (p = 0.03), took shorter (p ≤ 0.001) and wider (p ≤ 0.001) steps and spent a greater proportion of the gait cycle in double support (p = 0.03) compared to TD individuals. Cadence did not differ between groups (p = 0.62). Across all tasks, age was significantly correlated with cadence and double support time in the TD group but only double support time was correlated with age in the WFS group and only during preferred pace forward (rs = 0.564, p = 0.045) and dual task forward walking (rs = 0.720, p = 0.006) tasks. Individuals with WFS also had a greater number of missteps during tandem walking (p ≤ 0.001). Within the WFS group, spatiotemporal measures of gait did not correlate with measures of visual acuity. Balance measures negatively correlated with normalized gait velocity during fast forward walking (rs = -0.59, p = 0.03) and percent of gait cycle in double support during backward walking (rs = -0.64, p = 0.03). Quantifiable gait impairments can be detected in individuals with WFS earlier than previous clinical observations suggested. These impairments are not fully accounted for by the visual or balance deficits associated with WFS, and may be a reflection of early cerebellar and

  10. Primary Sjogren’s Syndrome Presenting as Acute Interstitial Pneumonitis/Hamman-Rich Syndrome

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    Abidullah Khan

    2016-01-01

    Full Text Available A previously well, 45-year-old Pakistani lady was admitted to the medical unit on-call of Khyber Teaching Hospital (KTH Peshawar with a 5-day history of fever, productive cough with copious mucoid sputum, dyspnea, and pleuritic chest pain. She also complained of dry eyes, mouth, and vagina. Her chest X-ray showed diffuse alveolar shadowing and arterial gas analysis confirmed type 1 respiratory failure. Over the next few days, she deteriorated rapidly making an urgent transfer to the medical intensive care unit (MICU necessary, where she was mechanically ventilated. An HRCT followed by bronchoscopic biopsies made a diagnosis of acute interstitial pneumonitis (AIP, formerly known as Hamman-Rich syndrome. She also turned out to be positive for both anti-SS-A/Ro and anti-SS-B/La antibodies along with a positive Schirmer’s test and lower lip biopsy. She received intravenous steroids and supportive care. The patient had a complete recovery after approximately three weeks’ stay in the hospital with lung function returning back to normal. This is most probably the first ever case of primary Sjogren syndrome (pSjS presenting as AIP, recovering completely in less than a month time.

  11. Síndrome de embolia gordurosa: relato de caso associado à lipoaspiração Fat embolism syndrome: report of a case associated to liposuction

    Directory of Open Access Journals (Sweden)

    Jõao Carlos Folador

    1999-04-01

    Full Text Available Mulher, 40 anos, 72 horas após lipossucção apresentou dispnéia súbita, febre, taquipnéia e taquicardia. Radiografia torácica e eco-doppler de membros inferiores eram normais, mas hipoperfusão pulmonar à cintilografia sugeriu tromboembolismo pulmonar. Após três dias de heparinização, observou-se hipóxia, anemia e confusão mental. Diagnosticou-se síndrome de embolia gordurosa, suspendeu-se heparinização e iniciou-se pulsoterapia com corticóide, seguida de melhora clínica e alta hospitalar.A forty year old woman, 72 hours after liposuction, complained of sudden dyspnea, fever and tachycardia. Thoracic radiography and duplex-scan of deep veins were normal. Pulmonary scintigraphy suggested thromboembolism. The patient had hypoxia, anemia and mental confusion after three days of systemic heparin. Once fat embolism syndrome was suspected, heparin infusion was stopped and corticosteroid therapy was started. After that, the patient was much better and discharged from hospital.

  12. Status epilepticus as the only presentation of the neonatal Bartter syndrome

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    Soumya Patra

    2012-01-01

    Full Text Available Bartter syndrome is a rare hereditary (autosomal recessive salt-losing tubulopathy characterized by hypokalemia, hypochloremia, metabolic alkalosis, and normal blood pressure with hyperreninemia, The underlying renal abnormality results in excessive urinary losses of sodium, chloride, and potassium. We report a case of a four-month-old infant with neonatal Bartter syndrome, who presented only with status epilepticus. To the best of our present knowledge, there is no reported case of Bartter syndrome who presented with status epilepticus.

  13. Status epilepticus as the only presentation of the neonatal Bartter syndrome.

    Science.gov (United States)

    Patra, Soumya; Konar, Mithun C; Basu, Rajarshi; Khaowas, Ajoy K; Dutta, Soumyadeep; Sarkar, Debanjali

    2012-03-01

    Bartter syndrome is a rare hereditary (autosomal recessive) salt-losing tubulopathy characterized by hypokalemia, hypochloremia, metabolic alkalosis, and normal blood pressure with hyperreninemia, The underlying renal abnormality results in excessive urinary losses of sodium, chloride, and potassium. We report a case of a four-month-old infant with neonatal Bartter syndrome, who presented only with status epilepticus. To the best of our present knowledge, there is no reported case of Bartter syndrome who presented with status epilepticus.

  14. An unusual presentation of Brown-Sequard syndrome.

    Science.gov (United States)

    Herr, R D; Barrett, J

    1987-11-01

    We report the case of a man with Brown-Sequard syndrome following a fall in which he sustained fractures of the thoracic and lumbosacral spine. Despite characteristic neurological findings, the diagnosis was delayed due to the absence of history of penetrating spinal trauma and incorrect attribution of unilateral-like weakness and numbness to lumbosacral trauma. A directed history and examination revealed that the patient was stabbed in the back with a penknife while leaving a bus and stepped down onto a paralyzed leg, which collapsed beneath him. The patient was given an antibiotic, underwent a negative peritoneal lavage, and had myelography and nerve conduction velocity confirmatory for Brown-Sequard syndrome. With rehabilitation he became ambulatory with a cane one month after the stabbing.

  15. Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation

    OpenAIRE

    Qurratul Warsi; Caroline Kirby; Mirza Beg

    2017-01-01

    Dysphagia is a condition in which disruption of the swallowing process interferes with a patient's ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS) is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include orophar...

  16. The Churg-Strauss syndrome: An unusual presentation

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    G K Manu

    2013-01-01

    Full Text Available The Churg-strauss syndrome (CSS, also referred to as allergic angiitis and granulomatosis is characterized by asthma, peripheral and tissue eosinophilia, extravascular granuloma formation, and vasculitis of multiple organ systems. It is an uncommon disease with an estimated annual incidence of 1-3 per million. Here, we report a case of CSS with glomerulocentric granulomatous reaction with interstitial eosinophils and involvement of retinal vessels.

  17. Bartter Syndrome with Normal Aldosterone Level: An Unusual Presentation.

    Science.gov (United States)

    Huque, S S; Rahman, M H; Khatun, S

    2016-04-01

    Bartter syndrome (BS) is a hereditary disease, with an autosomal recessive or autosomal dominant mode of transmission. It is characterized by salt wasting hypochloraemic, hypokalaemic metabolic alkalosis and hyperreninaemia with normal blood pressure. The primary defect is in the thick ascending limb of loop of Henle (TAL). Herein, we report a case that had typical features of BS like severe dehydration, severe hypokalaemia, metabolic alkalosis and failure to thrive but had normal aldosterone level which is very uncommon.

  18. Treatment of symptomatic pelvic varices by ovarian vein embolization

    International Nuclear Information System (INIS)

    Capasso, Patrizio; Simons, Christine; Trotteur, Genevieve; Dondelinger, Robert F.; Henroteaux, Denis; Gaspard, Ulysse

    1997-01-01

    Purpose. Pelvic congestion syndrome is a common cause of chronic pelvic pain in women and its association with venous congestion has been described in the literature. We evaluated the potential benefits of lumboovarian vein embolization in the treatment of lower abdominal pain in patients presenting with pelvic varicosities. Methods. Nineteen patients were treated. There were 13 unilateral embolizations, 6 initial bilateral treatments and 5 treated recurrences (a total of 30 procedures). All embolizations were performed with either enbucrilate and/or macrocoils, and there was an average clinical and Doppler duplex follow-up of 15.4 months. Results. The initial technical success rate was 96.7%. There were no immediate or long-term complications. Variable symptomatic relief was observed in 73.7% of cases with complete responses in 57.9%. All 8 patients who had partial or no pain relief complained of dyspareunia. The direct relationship between varices and chronic pelvic pain was difficult to ascertain in a significant number of clinical failures. Conclusion. Transcatheter embolization of lumboovarian varices is a safe technique offering symptomatic relief of pelvic pain in the majority of cases. The presence of dyspareunia seemed to be a poor prognostic factor, indicating that other causes of pelvic pain may coexist with pelvic varicosities

  19. Splenic Infarct and Pulmonary Embolism as a Rare Manifestation of Cytomegalovirus Infection

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    Prashanth Rawla

    2017-01-01

    Full Text Available Cytomegalovirus (CMV is a type of herpes infection that has a characteristic feature of maintaining lifelong latency within the host cell. CMV manifestations can cover a broad spectrum from fever to as severe as pancytopenia, hepatitis, retinitis, meningoencephalitis, Guillain-Barre syndrome, pneumonia, and thrombosis. Multiple case reports of thrombosis associated with CMV have been reported. Deep vein thrombosis or pulmonary embolism is more common in immunocompetent patients while splenic infarct is more common in immunocompromised patients. However, here we report a female patient on low-dose methotrexate for rheumatoid arthritis who presented with both pulmonary embolism and splenic infarct.

  20. Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

    Science.gov (United States)

    Westland, Rik; Hack, Wilfried W; van der Horst, Henricus J R; Uittenbogaard, Lukas B; van Hagen, Johanna M; van der Valk, Paul; Kamsteeg, Erik J; van den Heuvel, Lambert P; van Wijk, Joanna A E

    2012-12-01

    Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. However, in rare cases Bartter syndrome Type III has an antenatal presentation with polyhydramnios, premature delivery and severe dehydration in the first weeks of life. Associations between congenital anomalies of the kidney and urinary tract and Bartter syndrome are extremely rare. This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract. In addition, we describe the antenatal presentation as well as its perinatal management.

  1. A Rare Presentation of the Klinefelter’s Syndrome

    OpenAIRE

    Hezarkhani, Sharabeh; Moujerloo, Mohammad; Sedighi, Sima; Taheri, Negar Sadat

    2012-01-01

    A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter’s syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5, G5), but he had a small and a firm testis (length 2.2cm) and some degree of facial male pattern hair. He also had a decreased upper to lower body segment ratio and despite having chronic renal failure, he was taller than his parents and sibl...

  2. Disruptive technology disorder: A past, present, and future neurologic syndrome.

    Science.gov (United States)

    Weaver, Donald F

    2017-07-25

    Based upon an analysis of 6 major historical technological advances over the last 150 years, a new syndrome, disruptive technology disorder (DTD), is introduced. DTD describes the human health ailments that accompany the implementation of disruptive technologies. Elevator sickness, railway spine, and bicycle face are representative examples. Though the underlying causative disruptive technologies may differ, many neurologic symptoms (headache, dizziness, weakness) are common to multiple DTDs. Born of technology-driven societal change, DTDs manifest as a complex interplay between biological and psychological symptoms. © 2017 American Academy of Neurology.

  3. Cerebral fat embolism after bilateral total knee replacement arthroplasty -A case report-

    OpenAIRE

    Chang, Ri-Na; Kim, Jong-Hak; Lee, Heeseung; Baik, Hee-Jung; Chung, Rack Kyung; Kim, Chi Hyo; Hwang, Tae-Hu

    2010-01-01

    Fat embolism syndrome is a rare and potentially lethal complication most commonly seen in long bone fractures and intramedullary manipulation. The clinical triad of fat embolism syndrome consists of mental confusion, respiratory distress, and petechiae. This study reports a case of cerebral fat embolism syndrome following elective bilateral total knee replacement. After an uneventful anesthesia and initial recovery, the patient developed neurologic symptoms nine hours postoperatively.

  4. Cerebral fat embolism

    International Nuclear Information System (INIS)

    Sakamoto, Toshihisa; Sawada, Yusuke; Yukioka, Tetsuo; Nishide, Kazuyuki; Yoshioka, Toshiharu

    1982-01-01

    A case of cerebral fat embolism is reported. A 18-year-old patient with multiple bone fractures was in semiconma immediately after an injury. Brain CT showed no brain swelling or intracranial hematoma. Hypoxemia and alcoholemia were noted on admission, which returned to normal without improvement of consciousness level. In addition, respiratory symptoms with positive radiographic changes, tachycardia, pyrexia, sudden drop in hemoglobin level, and sudden thrombocytopenia developed. These symptoms were compatible with Gurd's criteria of systemic fat embolism. Eight days after injury, multiple low density areas appeared on CT and disappeared within the subsequent two weeks, and subdural effusion with cerebral atrophy developed. These CT findings were not considered due to cerebral trauma. Diagnosis of cerebral fat embolism was made. The subdural effusion was drained. Neurologic and pulmonary recoveries took place slowly and one month following the injury the patient became alert and exhibited fully coordinated limb movement. The CT scans of the present case well corresponded with hitherto reported pathological findings. Petechiae in the white matter must have developed on the day of injury, which could not be detected by CT examination. It is suggested that some petechial regions fused to purpuras and then gradually resolved when they were detected as multiple low density areas on CT. CT in the purpuras phase would have shown these lesions as high density areas. These lesions must have healed with formation of tiny scars and blood pigment which were demonstrated as the disappearance of multiple low density areas by CT examination. Cerebral atrophy and subsequent subdural effusion developed as a result of demyelination. The patient took the typical clinical course of cerebral fat embolism and serial CT scans served for its assessment. (author)

  5. Amniotic fluid embolism

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    Kiranpreet Kaur

    2016-01-01

    Full Text Available Amniotic fluid embolism (AFE is one of the catastrophic complications of pregnancy in which amniotic fluid, fetal cells, hair, or other debris enters into the maternal pulmonary circulation, causing cardiovascular collapse. Etiology largely remains unknown, but may occur in healthy women during labour, during cesarean section, after abnormal vaginal delivery, or during the second trimester of pregnancy. It may also occur up to 48 hours post-delivery. It can also occur during abortion, after abdominal trauma, and during amnio-infusion. The pathophysiology of AFE is not completely understood. Possible historical cause is that any breach of the barrier between maternal blood and amniotic fluid forces the entry of amniotic fluid into the systemic circulation and results in a physical obstruction of the pulmonary circulation. The presenting signs and symptoms of AFE involve many organ systems. Clinical signs and symptoms are acute dyspnea, cough, hypotension, cyanosis, fetal bradycardia, encephalopathy, acute pulmonary hypertension, coagulopathy etc. Besides basic investigations lung scan, serum tryptase levels, serum levels of C3 and C4 complements, zinc coproporphyrin, serum sialyl Tn etc are helpful in establishing the diagnosis. Treatment is mainly supportive, but exchange transfusion, extracorporeal membrane oxygenation, and uterine artery embolization have been tried from time to time. The maternal prognosis after amniotic fluid embolism is very poor though infant survival rate is around 70%.

  6. One patient with Sjogren’s syndrome presenting schizophrenia-like symptoms

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    Lin CE

    2016-03-01

    Full Text Available Ching-En Lin1,2 1Department of Psychiatry, Taipei Tzu-Chi Hospital, Buddhist Medical Foundation, Taiwan, Republic of China; 2School of Medicine, Tzu-Chi University, Hualien, Taiwan, Republic of China Abstract: Comorbid depression in patients with Sjogren’s syndrome has been reported frequently, while comorbid psychosis in subjects with Sjogren’s syndrome has rarely been reported. Here we report a patient with Sjogren’s syndrome who presented with schizophrenia-like symptoms such as persecutory delusions and auditory hallucinations in contrast to her previous psychiatric presentations, which only included depression and anxiety. Keywords: mental illness, psychosis, Sjogren’s syndrome, schizophrenia

  7. Chédiak-Higashi syndrome: presentation of seven cases

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    Eugénia Maria Grilo Carnide

    Full Text Available CONTEXT: Chédiak-Higashi Syndrome (CHS is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocytes. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT was proposed for one patient. DISCUSSION: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed.

  8. Battered woman syndrome: An unusual presentation of pseudodystonia

    Science.gov (United States)

    Chandra, Sadanandavalli Retnaswami; Issac, Thomas Gregor

    2014-01-01

    Pseudodystonia is the term used to define abnormal postures, which are not due to the disorders of the basal ganglia and is encountered very rarely in clinical practice and often difficult to distinguish from true dystonia syndromes. We report a rare case of a battered woman who was managed as restricted resistant dystonia with pharmacotherapy and intrathecal baclofen and referred for considering deep brain stimulation (DBS). The patient turned out to be a case of pseudodystonia due to bilateral hip dislocation. This was due to assault by a close relative and the history was masked by the patient for more than one and a half years. In a patient with late onset dystonia, who is resistant to the recommended treatment for dystonia along with atypical clinical features and electrophysiological parameters, pseudodystonia should always be considered as a possible diagnosis and evaluated for causes of the same. PMID:24966567

  9. Technique and methods in uterine leiomyoma embolization

    International Nuclear Information System (INIS)

    Helmberger, T.K.; Jakobs, T.F.; Reiser, M.F.

    2003-01-01

    Uterine leiomyomas are the most common benign tumors of the female urogenital tract. Beside the classic surgical treatment options the minimal-invasive embolization therapy of the leiomyomas increasingly gains importance world-wide. Technique, complications, and results of uterine leiomyoma embolization will be presented. After careful evaluation of indications for embolization the procedure is mostly performed under conscious sedation. A single-sided femoral access route together with cross-over technique generally allows for a flow-directed embolization via both uterine arteries. After embolizing the vessels supplying the tumor, the uterine arteries should be still patent. The success rate of embolization of uterine leiomyomas ranges between 85 and 100%, whereas a reduction in size of the tumors in 42 to 83% and a relief of symptoms in up to 96% can be achieved. The total complication rate is about 10% with mainly ''minor complications''. Worldwide only three deaths following embolization of uterine leiomyomas were reported. The high technical and clinical success rate together with a low complication rate make the embolization of uterine leiomyomas a minimally-invasive alternative to the classic treatment. As long term results are not available indication to embolization of uterine leiomyomas must be carefully established in consensus with gynecologists. (orig.) [de

  10. Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents: Is there an age effect?

    Science.gov (United States)

    Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

    2017-06-01

    There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with less severe symptoms and better psychosocial functioning than presentation in childhood or younger adolescence. Ninety-four CAD (age 9-18) meeting Attenuated Psychosis Syndrome criteria participated in the study. The sample was divided and compared according to the age of presentation of Attenuated Psychosis Syndrome (9-14 vs 15-18 years). The predictive value of age of Attenuated Psychosis Syndrome presentation was investigated using receiver operating characteristic (ROC)-curve calculations. The two Attenuated Psychosis Syndrome groups were homogeneous in terms of gender distribution, IQ scores and comorbid diagnoses. Older Attenuated Psychosis Syndrome patients showed better functioning and lower depressive scores. ROC curves revealed that severity of functional impairment was best predicted using an age of presentation cut-off of 14.9 years for social functioning and 15.9 years for role functioning. This study partially confirmed our hypothesis; older age at presentation of Attenuated Psychosis Syndrome was associated with less functional impairment, but age was not associated with psychotic symptoms. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  11. Pancoast syndrome: A rare presentation of non-Hodgkin′s lymphoma

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    Anirban Sarkar

    2013-01-01

    Full Text Available Pancoast syndrome is a common presentation of bronchogenic carcinoma, but other malignancies are rarely cited as its cause. Pancoast syndrome due to non-Hodgkin′s lymphoma is rarely described in the literature. Here, we report a case of Pancoast syndrome due to non-Hodgkin′s lymphoma to increase the awareness of the clinicians regarding essentiality of tissue diagnosis of Pancoast tumor before starting the treatment.

  12. A case of late-onset allgrove syndrome presenting with predominant autonomic dysfunction

    Directory of Open Access Journals (Sweden)

    Debmalya Sanyal

    2013-01-01

    Full Text Available Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of spontaneous morning erections for six months. He was having nocturnal diarrhea and recurrent postural dizziness for three months. He was found to have hyperpigmentation at pressure points, postural hypotension and other features of autonomic dysfunction. Laboratory investigations and imaging studies revealed hypoadrenalism, achalasia, alacrima and peripheral neuropathy. Autonomic neuropathy-related features persisted even after correction of hypoadrenalism. Based on clinical features and investigation he was diagnosed as a case of 4A syndrome presenting with autonomic dysfunction. Allgrove or 4A syndrome should be considered as a rare differential diagnosis of someone presenting with features of autonomic neuropathy.

  13. Wolf-Hirschhorn syndrome presenting with cardiac manifestations at birth

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    Sudhir D Malwade

    2016-01-01

    Full Text Available Wolf–Hirschhorn syndrome (WHS is a condition of developmental delay and dysmorphology caused by a deletion of short arm of chromosome 4. The main characteristics of WHS are intra and extrauterine growth retardation, mental retardation with typical facial dysmorphism, microcephaly, and midline fusion defects. The diagnosis is based on clinical features and chromosomal analysis, e.g., microsatellite analysis or molecular cytogenetic techniques and fluorescence in situ hybridization (FISH to detect the deletion. Prenatal diagnosis is possible by FISH. Though no specific treatment is available, supportive management can be fruitful. Here, we describe a female baby with a 4p deletion, who had the majority of the main phenotypic features of WHS and severe congenital heart disease manifesting at birth. The case emphasized that any fetus with intrauterine growth retardation, dysmorphic features on antenatal scan, and midline defects should raise a suspicion of WHS. Conventional cytogenetic studies can miss the diagnosis; hence, these cases should be further investigated using molecular cytogenetic techniques such as FISH or array-comparative genomic hybridization.

  14. Lynch syndrome in South America: past, present and future.

    Science.gov (United States)

    Vaccaro, Carlos A; Sarroca, Carlos; Rossi, Benedito; Lopez-Kostner, Francisco; Dominguez, Mev; Calo, Natalia Causada; Cutait, Raul; Valle, Adriana Della; Nuñez, Lina; Neffa, Florencia; Alvarez, Karin; Gonzalez, Maria Laura; Kalfayan, Pablo; Lynch, Henry T; Church, James

    2016-07-01

    After decades of unawareness about Lynch syndrome, the medical community in South America is increasingly interested and informed. The visits and support of mentors like H. T. Lynch had been crucial to this awakening. Several countries have at least one registry with skilled personnel in genetic counseling and research. However, this only represents a very restricted resource for the region. According to the GETH, there are 27 hereditary cancer care centers in South America (21 in Brazil, 3 in Argentina, 1 in Uruguay, 1 in Chile and 1 in Peru). These registries differ in fundamental aspects of function, capabilities and funding, but are able to conduct high quality clinical, research and educational activities due to the dedication and personal effort of their members, and organizational support. More support from the governments as well as the participation of the community would boost the initiatives of people leading these groups. Meantime, the collaboration among the South American registries and the involvement of registries and leaders from developed countries will allow to maximize the efficiency in caring for affected patients and their families. The aim of this article is to describe how the knowledge of LS began to be spread in South America, how the first registries were organized and to summarize the current state of progress. In addition, we will provide an update of the clinical and molecular findings in the region.

  15. Antisynthetase syndrome (ASS) presenting as acute respiratory distress syndrome (ARDS) in a patient without myositis features.

    Science.gov (United States)

    Kanchustambham, Venkat Kiran; Saladi, Swetha; Mahmoudassaf, Sarah; Patolia, Setu

    2016-12-09

    A woman aged 61 years presented to the emergency room with a 1-week history of dyspnoea on exertion and dry cough. X-ray of the chest showed diffuse interstitial opacities and was started on antibiotics and furosemide, and despite these measures, patient's respiratory status worsened, prompting endotracheal intubation. CT of the chest showed diffuse bilateral ground glass opacities and underwent bronchoscope with trans-bronchial biopsy that showed chronic bronchitis. Pt was empirically started on intravenous steroids due to concerns for interstitial lung disease (ILD). Autoimmune work up was sent and underwent video-assisted thoracoscopic surgery-guided biopsy of the lung that showed non-specific interstitial pattern with fibrosis. The patient was diagnosed as having antisynthetase syndrome with pulmonary involvement (ILD) as the cause of her acute respiratory failure. Azathioprine was started as steroid-sparing agent and was weaned off the ventilator to a tracheostomy collar and discharged to long-term rehabilitation centre. 2016 BMJ Publishing Group Ltd.

  16. Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.

    Science.gov (United States)

    Jasperson, K W; Samowitz, W S; Burt, R W

    2011-10-01

    Constitutional mismatch repair-deficiency (CMMR-D) syndrome is an autosomal recessive condition characterized by hematologic malignancies, brain tumors, Lynch syndrome-associated cancers and skin manifestations reminiscent of neurofibromatosis type 1 (NF1). In contrast to Lynch syndrome, CMMR-D syndrome is exceptionally rare, onset typically occurs in infancy or early childhood and, as described in this report, may also present with colonic polyposis suggestive of attenuated familial adenomatous polyposis (AFAP) or MUTYH associated polyposis (MAP). Here we describe two sisters with CMMR-D syndrome due to germline bi-allelic MSH6 mutations. Both sisters are without cancer, are older than typical for this condition, have NF1 associated features and a colonic phenotype suspicious for an attenuated polyposis syndrome. This report highlights the role of skin examinations in leading to an underlying genetic diagnosis in individuals with colonic adenomatous polyposis, but without mutations associated with AFAP or MAP. © 2010 John Wiley & Sons A/S.

  17. Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia

    International Nuclear Information System (INIS)

    Pena, Andres H.; Clevac, Egor; Marie Cahill, Anne; Kaplan, Paige; Ganesh, Jaya

    2009-01-01

    A 13-month-old boy with Gaucher disease presented with severe thrombocytopenia, anemia and massive splenomegaly. In addition he had significant respiratory compromise caused by abdominal compartment syndrome, requiring mechanical ventilation. Because of the degree of respiratory compromise and his existing bone marrow suppression, splenic artery embolization was chosen as an alternative to splenectomy. Splenic artery embolization was performed using 355-500-μm polyvinyl alcohol particles, with 70% ablation achieved. Within 24 h of the procedure the platelet count had risen to greater than 70,000/mm 3 and to more than 170,000/mm 3 on postoperative day 4. At the 8-month follow-up the splenic size had decreased from 18 cm to 8 cm, with a platelet count of 578,000/mm 3 . Partial splenic embolization provides a minimally invasive alternative to splenectomy in patients with Gaucher disease with massive splenomegaly and bone marrow suppression. (orig.)

  18. Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia

    Energy Technology Data Exchange (ETDEWEB)

    Pena, Andres H.; Clevac, Egor; Marie Cahill, Anne [Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Kaplan, Paige; Ganesh, Jaya [Children' s Hospital of Philadelphia, Division of Metabolic Diseases, Philadelphia, PA (United States)

    2009-09-15

    A 13-month-old boy with Gaucher disease presented with severe thrombocytopenia, anemia and massive splenomegaly. In addition he had significant respiratory compromise caused by abdominal compartment syndrome, requiring mechanical ventilation. Because of the degree of respiratory compromise and his existing bone marrow suppression, splenic artery embolization was chosen as an alternative to splenectomy. Splenic artery embolization was performed using 355-500-{mu}m polyvinyl alcohol particles, with 70% ablation achieved. Within 24 h of the procedure the platelet count had risen to greater than 70,000/mm{sup 3} and to more than 170,000/mm{sup 3} on postoperative day 4. At the 8-month follow-up the splenic size had decreased from 18 cm to 8 cm, with a platelet count of 578,000/mm{sup 3}. Partial splenic embolization provides a minimally invasive alternative to splenectomy in patients with Gaucher disease with massive splenomegaly and bone marrow suppression. (orig.)

  19. Cardiovocal syndrome – A rare presentation of primary pulmonary hypertension

    Directory of Open Access Journals (Sweden)

    Om Shankar

    2014-05-01

    Full Text Available Primary pulmonary hypertension is a well known entity with characteristic features more common in females presenting commonly with dyspnea. However primary pulmonary hypertension presenting as hoarseness of voice is rare occurring most likely due to compression of left recurrent laryngeal nerve between normal aorta and dilated tense pulmonary artery. Here we are presenting a case of 19 year old boy with primary pulmonary hypertension who presented with hoarseness of voice as predominant symptom.

  20. Successful treatment of direct carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV without arterial puncture: the transvenous triple-overlay embolization (TAILOREd) technique.

    Science.gov (United States)

    Huynh, Thien J; Morton, Ryan P; Levitt, Michael R; Ghodke, Basavaraj V; Wink, Onno; Hallam, Danial K

    2017-08-18

    We report successful transvenous treatment of direct carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV using a novel triple-overlay embolization (TAILOREd) technique without the need for arterial puncture, which is known to be highly risky in this patient group. The TAILOREd technique allowed for successful treatment using preoperative MR angiography as a three-dimensional overlay roadmap combined with cone beam CT and live fluoroscopy, precluding the need for an arterial puncture. 2017 BMJ Publishing Group Ltd.

  1. Absinthism: a fictitious 19th century syndrome with present impact

    Directory of Open Access Journals (Sweden)

    Lachenmeier Dirk W

    2006-05-01

    Full Text Available Abstract Absinthe, a bitter spirit containing wormwood (Artemisia absinthium L., was banned at the beginning of the 20th century as consequence of its supposed unique adverse effects. After nearly century-long prohibition, absinthe has seen a resurgence after recent de-restriction in many European countries. This review provides information on the history of absinthe and one of its constituent, thujone. Medical and toxicological aspects experienced and discovered before the prohibition of absinthe are discussed in detail, along with their impact on the current situation. The only consistent conclusion that can be drawn from those 19th century studies about absinthism is that wormwood oil but not absinthe is a potent agent to cause seizures. Neither can it be concluded that the beverage itself was epileptogenic nor that the so-called absinthism can exactly be distinguished as a distinct syndrome from chronic alcoholism. The theory of a previous gross overestimation of the thujone content of absinthe may have been verified by a number of independent studies. Based on the current available evidence, thujone concentrations of both pre-ban and modern absinthes may not have been able to cause detrimental health effects other than those encountered in common alcoholism. Today, a questionable tendency of absinthe manufacturers can be ascertained that use the ancient theories of absinthism as a targeted marketing strategy to bring absinthe into the spheres of a legal drug-of-abuse. Misleading advertisements of aphrodisiac or psychotropic effects of absinthe try to re-establish absinthe's former reputation. In distinction from commercially manufactured absinthes with limited thujone content, a health risk to consumers is the uncontrolled trade of potentially unsafe herbal products such as absinthe essences that are readily available over the internet.

  2. Bartter syndrome Type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation

    NARCIS (Netherlands)

    Westland, R.; Hack, W.W.; van der Horst, H.J.; Uittenbogaard, L.B.; van Hagen, J.M.; van der Valk, P.; Kamsteeg, E.J.; Heuvel, L.P.W.J. van den; van Wijk, J.A.

    2012-01-01

    Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2

  3. Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement

    Directory of Open Access Journals (Sweden)

    Kundan Mittal

    2014-01-01

    Full Text Available The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly.

  4. Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

    Directory of Open Access Journals (Sweden)

    Al-Otaibi Faisal

    2012-05-01

    Full Text Available Abstract Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management.

  5. Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia.

    Science.gov (United States)

    Thakur, Shruti; Jhobta, Anupam; Sharma, Brij; Chauhan, Arun; Thakur, Charu S

    2017-07-01

    Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus. Copyright © 2014. Published by Elsevier Taiwan.

  6. Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia

    Directory of Open Access Journals (Sweden)

    Shruti Thakur

    2017-07-01

    Full Text Available Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus.

  7. Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

    Directory of Open Access Journals (Sweden)

    Guillaume Jedraszak

    2015-01-01

    Full Text Available Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

  8. Mitochondrial DNA depletion syndrome presenting with ataxia and ...

    African Journals Online (AJOL)

    The patient presented to Cairo University Pediatric Hospital with the clinical suspicion of mitochondrial encephalomyopathy. Histochemical and biochemical studies of the respiratory chain complexes were performed on the muscle biopsy specimen from the patient. Molecular diagnosis was done by quantitative radioactive ...

  9. Constitutional MLH1 methylation presenting with colonic polyposis syndrome and not Lynch syndrome.

    Science.gov (United States)

    Kidambi, Trilokesh D; Blanco, Amie; Van Ziffle, Jessica; Terdiman, Jonathan P

    2016-04-01

    At least one-third of patients meeting clinical criteria for Lynch syndrome will have no germline mutation and constitutional epimutations leading to promoter methylation of MLH1 have been identified in a subset of these patients. We report the first case of constitutional MLH1 promoter methylation associated with a colonic polyposis syndrome in a 39 year-old man with a family history of colorectal cancer (CRC) and a personal history of 21 polyps identified over 8 years as well as the development of two synchronous CRCs over 16 months who was evaluated for a hereditary cancer syndrome. Immunohistochemistry (IHC) of multiple tumors showed absent MLH1 and PMS2 expression, though germline testing with Sanger sequencing and multiplex ligation-dependent probe amplification of these mismatch repair genes (MMR) genes was negative. A next generation sequencing panel of 29 genes also failed to identify a pathogenic mutation. Hypermethylation was identified in MLH1 intron 1 in tumor specimens along with buccal cells and peripheral white blood cells, confirming the diagnosis of constitutional MLH1 promoter methylation. This case highlights that constitutional MLH1 methylation should be considered in the differential diagnosis for a polyposis syndrome if IHC staining shows absent MMR gene expression.

  10. Transcatheter Embolization of Pseudoaneurysms Complicating Pancreatitis

    International Nuclear Information System (INIS)

    Golzarian, Jafar; Nicaise, Nicole; Deviere, Jacques; Ghysels, Marc; Wery, Didier; Dussaussois, Luc; Gansbeke, Daniel van; Struyven, Julien

    1997-01-01

    Purpose: To evaluate the therapeutic role of angiography in patients with pseudoaneurysms complicating pancreatitis. Methods: Thirteen symptomatic pseudoaneurysms were treated in nine patients with pancreatitis. Eight patients had chronic pancreatitis and pseudocyst and one had acute pancreatitis. Clinical presentation included gastrointestinal bleeding in seven patients and epigastric pain without bleeding in two. All patients underwent transcatheter embolization. Results: Transcatheter embolization resulted in symptomatic resolution in all patients. Rebleeding occurred in two patients, 18 and 28 days after embolization respectively, and was successfully treated by repeated emnbolization. One patient with severe pancreatitis died from sepsis 28 days after embolization. Follow-up was then available for eight patients with no relapse of bleeding after a mean follow-up of 32 months (range 9-48 months). Conclusion: Transcatheter embolization is safe and effective in the management of pseudoaneurysms complicating pancreatitis

  11. Churg-Strauss syndrome presenting with conjunctival and eyelid masses: a case report.

    Science.gov (United States)

    Ameli, F; Phang, K S; Masir, N

    2011-12-01

    Churg-Strauss syndrome, a small and medium vessel vasculitis, was first described by Churg and Strauss in 1951. It is characterised by the presence of asthma, prominent tissue and blood eosinophilia, systemic vasculitis, and pulmonary and systemic necrotising allergic granulomas. Involvement of the skin, heart and gastrointestinal tract is well documented, but ocular presentation is unusual. We describe a 40-year-old lady who presented with recurrent upper eyelid swelling due to conjunctival lesions. Although she has chronic asthma, Churg-Strauss syndrome was never suspected. The diagnosis of Churg-Strauss syndrome was only made following histological examination of the conjunctival lesions.

  12. Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

    NARCIS (Netherlands)

    Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

    2003-01-01

    We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

  13. Simultaneous Presentation of Duane Retraction Syndrome and Coats' Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    Mohammad Sharifi

    2014-07-01

    Conclusion: The occurrence of two different congenital and acquired ocular diseases is rare. This is the first simultaneous presentation of Duane syndrome and Coats' disease ever to be reported in a young patient.

  14. Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report

    Directory of Open Access Journals (Sweden)

    Xie Ying

    2012-05-01

    Full Text Available Abstract Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection. Case presentation A 33-year-old Chinese Han man underwent small bowel resection leaving only 40 cm of bowel, without an ileocecal valve, 12 years previously. At that time he was weaned from total parenteral nutrition and had a normal diet. He later developed features of severe malnutrition, and when parenteral nutrition was given, he developed re-feeding syndrome. Conclusion Although re-feeding syndrome is a common complication in patients with any kind of nutritional support, and known to us for many years, high risk patients still need more attention and monitoring. Re-feeding syndrome in this case was not only a macronutrients deficiency but also a micronutrient deficient, and prompt supplement therapy and organ function support proved to be successful.

  15. Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review.

    Science.gov (United States)

    Gross, Itai; Siedner-Weintraub, Yael; Simckes, Ari; Gillis, David

    2015-07-01

    Antenatal type I Bartter syndrome (ABS) is usually identified by the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis caused by mutations in the Na-K-2Cl cotransporter (NKCC2)-encoding SLC12A1 gene. In this report, we describe a novel presentation of this syndrome with hypercalcemic hypercalciuric hyperparathyroidism, and review the literature of the variable atypical presentations of ABS.

  16. A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

    Science.gov (United States)

    Jivani, Nurin; Torrado-Jule, Carmen; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

    2016-11-01

    Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.

  17. Empty sella syndrome presenting as panhypopituitarism in a child

    Directory of Open Access Journals (Sweden)

    Sharmin Jahan

    2016-08-01

    Full Text Available Empty Sella refers to the absence or relative absence of the pituitary gland on radiologic imaging of the Sella turcica. This is usually an incidental finding, and as few as 10% patients presents with Hypopituitarism. The authors report a 13.5-year-old boy who presei1ted with short stature and absence of signs of pubertal onset. Hormonal assay showed panhypopi­tuitarism. X-ray left wrist joint showed delayed bone age and finally MRl of the brain revealed empty Sella. Growth hormone replacement therapy was started to increase the height. The boy is now on regular follow up to monitor response to treatment.

  18. Constitutional Syndrome, Ascites and Duodenal Thickening Presenting as Groove Pancreatitis

    Directory of Open Access Journals (Sweden)

    Jose Maria Frutos Perez

    2017-12-01

    Full Text Available Groove pancreatitis (GP is a very infrequent subtype of chronic pancreatitis affecting the pancreatic-duodenal junction. It usually manifests in middle-aged men with a history of chronic alcoholism, though it has also been described in women and in individuals who do not consume alcohol[1]. Even though the underlying etiology is unclear, chronic alcohol consumption is known to increase the viscosity of the pancreatic juice and exacerbate the inflammatory process[2]. We present a case of GP that posed diagnostic difficulties because it manifested as ascites and duodenal thickening, with pancreatic imaging findings initially normal.

  19. A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive.

    Science.gov (United States)

    Bellfield, Edward J; Shad, Zohra

    2017-09-01

    We describe a 24-month-old male patient who presented to our Genetics-Endocrinology Clinic with a history of failure to thrive, short stature and cryptorchidism. Soon after birth he was diagnosed with 47,XYY syndrome, but due unusual facial features had further diagnostic workup which revealed Noonan syndrome (NS) as well. This report illustrates significant phenotypic-cytogenetic variability within the clinical presentation of NS and 47,XYY syndrome, as well as the need to investigate patients for other genetic defects when phenotype does not correlate with genotype. Furthermore, in this case, the cellular pathways attenuating growth via PTPN11 mutation appear to supersede the SHOX overdosage-an observation that can lead to further research in genetic mechanisms of growth physiology.

  20. Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

    Science.gov (United States)

    Ganie, M A; Laway, B A; Nisar, S; Wani, M M; Khurana, M L; Ahmad, F; Ahmed, S; Gupta, P; Ali, I; Shabir, I; Shadan, A; Ahmed, A; Tufail, S

    2011-11-01

    Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

  1. Paradoxical embolism: computed tomography demonstration

    International Nuclear Information System (INIS)

    Kaye, J.; Hayward, M.

    2001-01-01

    Paradoxical emboli are rare and often presumptively diagnosed. A case of paradoxical embolism, in which both the arterial and venous emboli were documented on CT, is described. While paradoxical emboli are not infrequently diagnosed clinically on a presumptive basis, it is rare to document them with imaging such as CT which, in the present case, confirmed the diagnosis. Copyright (2001) Blackwell Science Pty Ltd

  2. Dyspnoea in-patient with antiphospholipid syndrome; case Presentation and literature revision

    International Nuclear Information System (INIS)

    Restrepo, Lucas; Londono, Maria Carlota; Anaya, Juan Manuel

    2001-01-01

    The antiphospholipid syndrome (AFS) is characterized by vascular thrombosis and/or pregnancy morbidity associated to presence of antiphospholipid antibodies (anticardiolipin and/or lupus anticoagulant), This syndrome may occur alone primary -PAFS-) or in association with systemic lupus erythematosus (secondary -SAFS, Both primary and secondary AFS can be responsible for systemic manifestations other than vascular, among them pulmonary, Here is presented a patient with dyspnoea due to pulmonary hypertension (PHT) and interstitial pulmonary disease (IPD), in whom a diagnostic of SAFS was done, The pulmonary manifestations of the AFS are revised including pulmonary thromboembolism, PHT, IPD, pulmonary hemorrhage, and adult respiratory syndrome with multisystemic failure

  3. Renal aneurysm and arteriovenous fistula; Management with transcatheter embolization

    Energy Technology Data Exchange (ETDEWEB)

    Savastano, S.; Feltrin, G.P.; Miotto, D.; Chiesura-Corona, M. (Padua Univ. (Italy). Ist. di Radiologia Padua Univ. (Italy). Ist. di Fisioterapia)

    1990-01-01

    Embolization was performed in six patients with renal artery aneurysms (n=2) and arteriovenous fistulas (AVF) (n=5). The aneurysms were observed in one patient with fibromuscular dysplasia and in another with Ehlers-Danlos syndrome. All the AVFs were intraparenchymal and secondary to iatrogenic trauma. Elective embolization was performed in five patients with good clinical results at follow-up between 1 and 9 years. Because of rupture of the aneurysm emergency embolization was attempted without success in the patient with Ehlers-Danlos syndrome, and nephrectomy was carried out. A postembolization syndrome complicated three procedures in which Gelfoam and polyvinyl alcohol were used; in two of these cases unexpected reflux of the particulate material occurred, resulting in limited undesired ablation of the ipsilateral renal parenchyma. Embolization is the most reliable and effective treatment for intrarenal vascular abnormalities since it minimizes the parenchymal damage. (orig.).

  4. The serpentine mitral valve and cerebral embolism

    Directory of Open Access Journals (Sweden)

    Ker James

    2011-02-01

    Full Text Available Abstract Valvular strands, well-delineated filiform masses, attached to cardiac valve edges are associated with cerebral embolism and stroke. Strokes, caused by emboli from valvular strands, tend to occur among younger persons. In this case report a valvular strand, giving a peculiar serpentine appearance to the mitral valve is described. This mitral valvular strand was the only explanation for an episode of cerebral embolism, presenting with a transient right sided hemiparesis. It is proposed that a randomized study involving combined treatment with aspirin and clopidogrel is warranted in young patients with valvular strands, presenting with a first episode of cerebral embolism.

  5. Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report

    Directory of Open Access Journals (Sweden)

    De Salles Antonio AF

    2011-09-01

    Full Text Available Abstract Introduction Poland syndrome is a congenital disorder related to chest and hand anomalies on one side of the body. Its etiology remains unclear, with an ipsilateral vascular alteration (of unknown origin to the subclavian artery in early embryogenesis being the currently accepted theory. Cavernous malformations are vascular hamartomas, which have been linked to a genetic etiology, particularly in familial cases, which commonly present with multiple lesions. Our case report is the first to describe multiple cavernous malformations associated with Poland syndrome, further supporting the vascular etiology theory, but pointing to a genetic rather than a mechanistic factor disrupting blood flow in the corresponding vessels. Case presentation A 41-year-old Caucasian man with Poland syndrome on the right side of his body presented to our hospital with a secondary generalized seizure and was found to have multiple cavernous malformations distributed in his brain, cerebellum, and brain stem, with a predominance of lesions in the left hemisphere. Conclusion The distribution of cavernous malformations in the left hemisphere and the right-sided Poland syndrome in our patient could not be explained by a mechanistic disruption of one of the subclavian arteries. A genetic alteration, as in familial cavernous malformations, would be a more appropriate etiologic diagnosis of Poland syndrome in our patient. Further genetic and pathological studies of the involved blood vessels in patients with Poland syndrome could lead to a better understanding of the disease.

  6. Sarcomatoid carcinoma of kidney, presenting with leucocytosis as paraneoplastic syndrome: A case report and short review

    Directory of Open Access Journals (Sweden)

    Joydeep Ghosh

    2017-01-01

    Full Text Available Renal cell carcinoma is the ninth most common malignancy. The commonest histopathological type is clear cell carcinoma. The occurrence of sarcomatoid carcinoma is very rare and confers a very poor prognosis. Only 10-20% patients present with paraneoplastic syndromes. Out of the common paraneoplastic syndromes, leucocytosis is one of the least reported. Here, we present a case of sarcomatoid carcinoma of kidney who presented with low-grade fever and leucocytosis, followed by a short review of literature. This is one of the rare situations where a rare histologic variant presents with a rare finding.

  7. Intramedullary spinal cord metastasis from colonic carcinoma presenting as Brown-Sequard syndrome: a case report

    LENUS (Irish Health Repository)

    Kaballo, Mohammed A

    2011-08-02

    Abstract Introduction Intramedullary spinal cord metastasis is very rare. The majority are discovered incidentally during autopsy. Most symptomatic patients present with rapidly progressive neurological deficits and require immediate examination. Few patients demonstrate features of Brown-Séquard syndrome. Radiotherapy is the gold-standard of therapy for Intramedullary spinal cord metastasis. The overall prognosis is poor and the mortality rate is very high. We present what is, to the best of our knowledge, the first case of Intramedullary spinal cord metastasis of colorectal carcinoma presenting as Brown-Séquard syndrome. Case presentation We present the case of a 71-year-old Caucasian man with colonic adenocarcinoma who developed Intramedullary spinal cord metastasis and showed features of Brown-Séquard syndrome, which is an uncommon presentation of Intramedullary spinal cord metastasis. Conclusion This patient had an Intramedullary spinal cord metastasis, a rare form of metastatic disease, secondary to colonic carcinoma. The metastasis manifested clinically as Brown-Séquard syndrome, itself a very uncommon condition. This syndrome is rarely caused by intramedullary tumors. This unique case has particular interest in medicine, especially for the specialties of medical, surgical and radiation oncology. We hope that it will add more information to the literature about these entities.

  8. Embolization of AV intra-hepatic fistulas

    Energy Technology Data Exchange (ETDEWEB)

    Mallarini, G; Saitta, S; Cariati, M; Nicorelli, M; de Caro, G

    1982-05-01

    The use of therapeutic embolization in a case of hepatic AV fistula with portal flow inversion and portal hypertension is described. Indications, technique and an illustrative case followed up for one year after the intervention are presented.

  9. Skull Base Osteomyelitis from Otitis Media Presenting as the Collet-Sicard Syndrome

    Directory of Open Access Journals (Sweden)

    Wong-Kein Low

    2018-01-01

    Full Text Available Skull base osteomyelitis can involve the jugular foramen and its associated cranial nerves resulting in specific clinical syndromes. The Collet-Sicard syndrome describes the clinical manifestations of palsies involving cranial nerves IX, X, XI, and XII. We present a rare atypical case of skull base osteomyelitis originating from infection of the middle ear and causing the Collet-Sicard syndrome. Caused by Pseudomonas aeruginosa and Klebsiella pneumoniae, this occurred in an elderly diabetic man subsequent to retention of a cotton swab in an ear with chronic suppurative otitis media. This case report illustrates the possibility of retained cotton swabs contributing to the development of otitis media, skull base osteomyelitis, and ultimately the Collet-Sicard syndrome in the ears of immune-compromised patients with chronically perforated eardrums.

  10. [Acute anterior myocardial infarction as presenting feature of antiphospholipid syndrome related lupus arthritis].

    Science.gov (United States)

    Capilla-Geay, E; Poyet, R; Brocq, F X; Pons, F; Kerebel, S; Foucault, G; Jego, C; Cellarier, G R

    2016-05-01

    Antiphospholipid syndrome is an autoimmune disorder causing venous and arterial thrombosis. Acute coronary complications are rare but potentially dramatic. We report a 39-year-old woman who presented with an acute anterior myocardial infarction after intravenous corticosteroids as part of the treatment of lupus arthritis and revealing antiphospholipid syndrome. Emergency coronary angiography was performed with drug-eluting stent angioplasty despite the need for anticoagulation and dual antiplatelet therapy. Antiplatelet and anticoagulant therapy management is pivotal in patients with antiphospholipid syndrome and acute coronary syndrome to prevent thrombosis recurrence. Copyright © 2015 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  11. CT findings of cerebral fat embolism

    International Nuclear Information System (INIS)

    Mashiyama, Shoji; Kawakami, Kiyoshi; Ohtsuki, Taisuke; Ishibashi, Takao.

    1986-01-01

    A case of cerebral fat embolism following multiple bone fractures is presented. A 27-year-old patient was admitted to our clinic 50 minutes after a traffic accident. He was somnolent on admission, but his consciousness level was gradually raised and respiratory symptoms (dyspnea, bloody sputum) appeared with petechiae of his conjunctiva and chest. We diagnosed cerebral fat embolism. On CT scan we found multiple high-density areas, which gradually turned into multiple low-density areas. Subsequent cerebral atrophy and subdural effusion developed one month after the injury. This patient showed a typical clinical course and CT findings of cerebral fat embolism. (author)

  12. Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome

    International Nuclear Information System (INIS)

    Dineen, R.A.; Lenthall, R.K.

    2004-01-01

    To date, intracranial aneurysms have been reported in two patients with Noonan syndrome. We report two unrelated patients with Noonan syndrome who presented with sub-arachnoid haemorrhage secondary to intracranial aneurysms. These cases are discussed and other cerebrovascular abnormalities that have been described in association with Noonan syndrome are reviewed. Ultrastructural and genetic factors contributing to these associations are considered. (orig.)

  13. Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Dineen, R.A.; Lenthall, R.K. [Department of Radiology, University Hospital, Queen' s Medical Centre, NG7 2UH, Nottingham (United Kingdom)

    2004-04-01

    To date, intracranial aneurysms have been reported in two patients with Noonan syndrome. We report two unrelated patients with Noonan syndrome who presented with sub-arachnoid haemorrhage secondary to intracranial aneurysms. These cases are discussed and other cerebrovascular abnormalities that have been described in association with Noonan syndrome are reviewed. Ultrastructural and genetic factors contributing to these associations are considered. (orig.)

  14. Disproportionate rise in serum CA 125 in case of budd chiari syndrome: an unusual presentation

    OpenAIRE

    Prasad D. Game; Madhuri P. Holay; Satyanarayan Durgam; Sandeep Kharkar

    2015-01-01

    Ca 125 is used as a diagnostic and prognostic biomarker for ovarian cancer. The level of CA 125 is also elevated in benign conditions like Budd Chiari syndrome, liver cirrhosis and heart failure. But very high level of CA 125 is rarely associated with benign conditions and this can mislead the physician. Here we present a case of budd chiari syndrome in postpartum period associated with very high level of CA 125 which is an unusual presentation. [Int J Res Med Sci 2015; 3(8.000): 2129-2131

  15. Presentation and management of trapped neutrophil syndrome (TNS) in UK Border collies.

    Science.gov (United States)

    Mason, S L; Jepson, R; Maltman, M; Batchelor, D J

    2014-01-01

    Three UK bred Border collie puppies were presented for investigation of pyrexia and severe lameness with associated joint swelling. Investigations revealed neutropenia, radiographic findings suggesting metaphyseal osteopathy, and polyarthritis and all dogs were subsequently confirmed with trapped neutrophil syndrome. Clinical improvement was seen after treatment with prednisolone and antibiotics and the dogs all survived to adulthood with a good short- to medium-term outcome. Trapped neutrophil syndrome is an important differential diagnosis for young Border collie dogs in the UK presenting with pyrexia, neutropenia and musculoskeletal signs. © 2013 British Small Animal Veterinary Association.

  16. Carbon Dioxide Embolism during Laparoscopic Surgery

    Science.gov (United States)

    Park, Eun Young; Kwon, Ja-Young

    2012-01-01

    Clinically significant carbon dioxide embolism is a rare but potentially fatal complication of anesthesia administered during laparoscopic surgery. Its most common cause is inadvertent injection of carbon dioxide into a large vein, artery or solid organ. This error usually occurs during or shortly after insufflation of carbon dioxide into the body cavity, but may result from direct intravascular insufflation of carbon dioxide during surgery. Clinical presentation of carbon dioxide embolism ranges from asymptomatic to neurologic injury, cardiovascular collapse or even death, which is dependent on the rate and volume of carbon dioxide entrapment and the patient's condition. We reviewed extensive literature regarding carbon dioxide embolism in detail and set out to describe the complication from background to treatment. We hope that the present work will improve our understanding of carbon dioxide embolism during laparoscopic surgery. PMID:22476987

  17. Hydralazine-induced anti-neutrophil cytoplasmic antibody-positive renal vasculitis presenting with a vasculitic syndrome, acute nephritis and a puzzling skin rash: a case report

    Directory of Open Access Journals (Sweden)

    Keasberry Justin

    2013-01-01

    Full Text Available Abstract Introduction Anti-neutrophil cytoplasmic antibody-associated vasculitis has been associated with many drugs and it is a relatively rare side effect of the antihypertensive drug hydralazine. The diagnosis and management of patients who have anti-neutrophil cytoplasmic antibody-associated vasculitis may be challenging because of its relative infrequency, variability of clinical expression and changing nomenclature. The spectrum of anti-neutrophil cytoplasmic antibody-associated vasculitis is wide and can be fatal. This case documents a 62-year-old woman who presented with hydralazine-induced anti-neutrophil cytoplasmic antibody-positive renal vasculitis with a puzzling cutaneous rash. Case presentation We report a rare case of hydralazine-induced anti-neutrophil cytoplasmic antibody-associated vasculitis in a 62-year-old Caucasian woman who presented with a vasculitic syndrome with a sore throat, mouth ulcers and otalgia after several months of constitutional symptoms. She then proceeded to develop a rash over her right lower limb. Clinically, the rash had features to suggest Sweet’s syndrome, but also had some appearances consistent with embolic phenomena and did not have the appearance of palpable purpure usually associated with cutaneous vasculitis. Differential diagnoses were hydralazine-associated Sweet’s syndrome, streptococcal-induced cutaneous eruption or an unrelated contact dermatitis. A midstream urine sample detected glomerular blood cells in the setting of anti-neutrophil cytoplasmic antibody-positive renal vasculitis and Streptococcus pyogenes bacteremia. A renal biopsy revealed a pauci-immune, focally necrotizing glomerulonephritis with small crescents. Her skin biopsy revealed a heavy neutrophil infiltrate involving the full thickness of the dermis with no evidence of a leucocytoclastic vasculitis, but was non-specific. She was initially commenced on intravenous lincomycin for her bloodstream infection and subsequently

  18. Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome.

    Science.gov (United States)

    Antevil, Jared; Umakanthan, Ramanan; Leacche, Marzia; Brewer, Zachary; Solenkova, Natalia; Byrne, John G; Greelish, James P

    2009-05-01

    A 33-year-old, previously healthy male presented with respiratory distress and underwent intubation. A physical examination revealed a holosystolic murmur and pupillary abnormalities. Echocardiography revealed a flail anterior mitral valve leaflet with ruptured chordae and severe mitral regurgitation. The patient underwent urgent mitral valve replacement and tolerated the procedure well. The mitral valve leaflet was myxomatous and calcified -- an unusual find in such a patient. An ophthalmology consultation was obtained and the patient diagnosed with Axenfeld-Rieger syndrome, a disorder of the anterior ocular chamber that has been associated with cardiac malformations. The present case report adds to the body of literature which suggests a correlation between Axenfeld-Rieger syndrome and valvular abnormalities. Hence, it is believed prudent that patients with Axenfeld-Rieger syndrome should undergo echocardiographic screenings for valvular abnormalities.

  19. Pulmonary embolism; Lungenarterienembolie

    Energy Technology Data Exchange (ETDEWEB)

    Sudarski, Sonja; Henzler, Thomas [Heidelberg Univ., Universitaetsmedizin Mannheim (Germany). Inst. fuer Klinische Radiologie und Nuklearmedizin

    2016-09-15

    Pulmonary embolism (PE) requires a quick diagnostic algorithm, as the untreated disease has a high mortality and morbidity. Crucial for the diagnostic assessment chosen is the initial clinical likelihood of PE and the individual risk profile of the patient. The overall goal is to diagnose or rule out PE as quickly and safely as possible or to initiate timely treatment if necessary. CT angiography of the pulmonary arteries (CTPA) with multi-slice CT scanner systems presents the actual diagnostic reference standard. With CTPA further important diagnoses can be made, like presence of right ventricular dysfunction. There are different scan and contrast application protocols that can be applied in order to gain diagnostic examinations with sufficient contrast material enhancement in the pulmonary arteries while avoiding all kinds of artifacts. This review article is meant to be a practical guide to examine patients with suspected PE according to the actual guidelines.

  20. A Mixed Presentation of Serotonin Syndrome vs Neuroleptic Malignant Syndrome in a 12-Year-Old Boy.

    Science.gov (United States)

    Sun, Christie; Sweet, Hannah; Minns, Alicia B; Shapiro, Desiree; Jenkins, Willough

    2018-04-24

    Neuroleptic malignant syndrome (NMS) and serotonin syndrome (SS) are serious medical conditions associated with commonly prescribed psychiatric medications. Although the mechanisms differ, they can be clinically difficult to distinguish. We report a case of a pediatric patient with complicated psychiatric history that developed features of both syndromes in the setting of polypharmacy. A 12-year-old boy with a history of developmental delay, attention-deficit hyperactivity disorder, and posttraumatic stress disorder presented to the emergency department with behavior changes consisting of delayed reactions, gait instability, drooling, and slowed movements. Ten days before presentation, his outpatient psychiatrist had made multiple medication changes including discontinuation of cyproheptadine (an appetite stimulant) and initiation of aripiprazole. On arrival, the patient was noted to be tachycardia and hypertensive for age. He was disoriented, intermittently agitated, and tremulous with increased tonicity, clonus in the lower extremities, and mydriasis. He was supportively treated with lorazepam and intravenous fluids while discontinuing potential offending agents. His course was complicated by hypertension and agitation managed with dexmedetomidine infusion and benzodiazepines. His mental status, tremors, and laboratory values began to improve over the next 2 days, and eventually transitioned to the inpatient psychiatric unit on hospital day 7. Diagnosis of NMS or SS can be difficult when there is overlap between syndromes, particularly in the setting of multiple potential offending agents or underlying developmental delay. In addition, pediatric patients may present atypically as compared with adult patients with the same condition. The use of antipsychotic medications for young children with behavioral problems has risen dramatically in the last decade, increasing their risk for developing SS or NMS.

  1. Brown-bowel syndrome. Review of the literature and presentation of cases

    DEFF Research Database (Denmark)

    Horn, T; Svendsen, L B; Nielsen, R

    1990-01-01

    Four cases of brown-bowel syndrome (BBS) are presented. BBS is found in malabsorptive conditions secondary to diseases involving the liver, pancreas, and gastrointestinal tract. Morphologically, BBS is characterized by deposition of lipofuscin in the tunica muscularis, and electron microscopy sho...

  2. "Klebsiella Pneumonia" Liver Abscess Syndrome: Case Presentation to a College Student Health Clinic

    Science.gov (United States)

    Woll, Christopher; Spotts, P. Hunter

    2016-01-01

    The authors describe a case of "Klebsiella pneumoniae" liver abscess (KPLA) in a student presenting to a university student health center. The authors also provide a review of KPLA and invasive "Klebsiella pneumoniae" liver abscess syndrome (IKPLAS), including epidemiology, common clinical manifestations, standard diagnostic…

  3. Immune reconstitution syndrome presenting as probable AIDS-related lymphoma: a case report

    DEFF Research Database (Denmark)

    Mortensen, Bo K; Nielsen, Susanne D; Christensen, Charlotte

    2011-01-01

    ABSTRACT: We report an unusual case of HIV-related immune reconstitution inflammatory syndrome, presenting as suspected AIDS-related lymphoma. Symptoms, initial investigations including fine-needle biopsy and 18F-FDG PET/CT scan were highly compatible with high grade AIDS-related lymphoma, however...

  4. Eosinophilic granulomatosis with polyangitis (Churg-Strauss syndrome: a diagnostic rarity with an atypical presentation

    Directory of Open Access Journals (Sweden)

    Sujeet Raina

    2014-01-01

    Full Text Available We report a case of a 33-year-old woman who presented to us with symptoms of bronchial asthma and peripheral neuropathy. After investigations, the diagnosis of eosinophilic granulomatosis and polyangitis (Churg-Strauss syndrome was made.

  5. A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis

    NARCIS (Netherlands)

    G.H. van Ramshorst (Gabrielle); M.H. Lequin (Maarten); G.M.S. Mancini (Grazia); C. van de Ven (C.)

    2006-01-01

    textabstractThe authors describe a case of split notochord syndrome with a neuroenteric fistula in a newborn presenting with meningitis. Associated anomalies included agenesis of the corpus callosum, short colon, malrotation, epispadias, and an abnormally high bifurcation of the abdominal aorta and

  6. Brown-bowel syndrome. Review of the literature and presentation of cases

    DEFF Research Database (Denmark)

    Horn, T; Svendsen, L B; Nielsen, R

    1990-01-01

    Four cases of brown-bowel syndrome (BBS) are presented. BBS is found in malabsorptive conditions secondary to diseases involving the liver, pancreas, and gastrointestinal tract. Morphologically, BBS is characterized by deposition of lipofuscin in the tunica muscularis, and electron microscopy shows...

  7. An Atypical Presentation of Subacute Encephalopathy with Seizures in Chronic Alcoholism Syndrome.

    Science.gov (United States)

    Kim, Tae-Kyoung; Jung, Eui Sung; Park, Jong-Moo; Kang, Kyusik; Lee, Woong-Woo; Lee, Jung-Ju

    2016-06-01

    Subacute encephalopathy with seizures in chronic alcoholism syndrome is a rare clinical manifestation in patients with chronic alcohol abuse. We report the case of a patient with chronic alcoholism who presented with partial nonconvulsive status epilepticus associated with a thalamic lesion.

  8. An Atypical Presentation of Subacute Encephalopathy with Seizures in Chronic Alcoholism Syndrome

    OpenAIRE

    Kim, Tae-Kyoung; Jung, Eui Sung; Park, Jong-Moo; Kang, Kyusik; Lee, Woong-Woo; Lee, Jung-Ju

    2016-01-01

    Subacute encephalopathy with seizures in chronic alcoholism syndrome is a rare clinical manifestation in patients with chronic alcohol abuse. We report the case of a patient with chronic alcoholism who presented with partial nonconvulsive status epilepticus associated with a thalamic lesion.

  9. Presentation of an uncommon form of aortic dissection and rupture in Marifoan syndrome

    International Nuclear Information System (INIS)

    Delgado, I.; Ruiz, R.; Villanueva, J.M.; Fernandez Cueto, J.L.

    1995-01-01

    In Marfan syndrome, aneurysmatic enlargement of ascending aorta and dissection starting at the root are the most common cardiovascular complications. We present an infrequent case of a 15-year-old patient with a typical case of Marfan syndrome. CT disclosed an aorta and aortic arch of normal size with dissection originating distally with respect to the point where left subclavian artery arises. The disecction extended to descending aorta and to iliac and femoral arteries. Aortic rupture occurred in the arch, with massive hemothorax. The CT findings were confirmed at necropsy. 9 refs

  10. The savant syndrome: an extraordinary condition. A synopsis: past, present, future.

    Science.gov (United States)

    Treffert, Darold A

    2009-05-27

    Savant syndrome is a rare, but extraordinary, condition in which persons with serious mental disabilities, including autistic disorder, have some 'island of genius' which stands in marked, incongruous contrast to overall handicap. As many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndrome occurs in other developmental disabilities or in other types of central nervous system injury or disease as well. Whatever the particular savant skill, it is always linked to massive memory. This paper presents a brief review of the phenomenology of savant skills, the history of the concept and implications for education and future research.

  11. Sjögren syndrome presenting with hypopotassemic periodic paralysis due to renal tubular acidosis

    Science.gov (United States)

    Ataoglu, Esra Hayriye; Demir, Betul; Tuna, Mazhar; Çavus, Bilger; Cetin, Faik; Temiz, Levent Umit; Ozturk, Savas; Yenigun, Mustafa

    2012-01-01

    Summary Background: Sjögren syndrome (SS) is an autoimmune-lymphoproliferative disorder characterized by mononuclear cell infiltration of exocrine glands. Clinically, Sjögren syndrome (SS) has a wide spectrum, varying from autoimmune exocrinopathy to systemic involvement. There have been few cases reporting that primary SS developed with distal renal tubular acidosis clinically. Case Report: Here, we present a case with primary Sjögren syndrome accompanied by hypopotassemic paralysis due to renal tubular acidosis. Severe hypopotassemia, hyperchloremic metabolic acidosis, alkaline urine and disorder in urinary acidification test were observed in the biochemical examination of the 16-year-old female patient, who had applied to our clinic for extreme loss of muscle force. After the examinations it was determined that the patient had developed Type 1 RTA (distal RTA) due to primary Sjögren syndrome. Potassium and alkaline replacement was made and an immediate total recovery was achieved. Conclusions: Hypopotassemic paralysis due to primary Sjögren syndrome is a rare but severe disorder that could lead to death if not detected early and cured appropriately. Thus, effective treatment should be immediately initiated in cases where severe hypopotassemia is accompanied by metabolic acidosis, and the cases should also be examined for extraglandular involvement of SS. PMID:23569525

  12. Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome.

    Science.gov (United States)

    Lee, Mi Ji; Kim, Byung Young; Ma, Jae Sook; Choi, Young Earl; Kim, Young Ok; Cho, Hwa Jin; Kim, Chan Jong

    2016-11-01

    Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily. However, during admission, he developed symptoms of cardiac tamponade. Closed pericardiostomy was performed, after which the patient's chest discomfort improved, and his vital signs stabilized. Herein, we report a case of an adolescent with Noonan syndrome, who was diagnosed with Hashimoto thyroiditis with an unusual presentation of cardiac tamponade.

  13. The prevalence of turner syndrome in girls presenting with coarctation of the aorta.

    Science.gov (United States)

    Wong, Sze Choong; Burgess, Trent; Cheung, Michael; Zacharin, Margaret

    2014-02-01

    To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA). A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with 50-cell count was performed. Of 132 girls with CoA, 55 (41.7%) had karyotype analysis within 6 months of cardiac diagnosis. Three girls underwent karyotyping later because of clinical concerns. Of the 74 girls with CoA who had not had a karyotype, 38 (51.4%) consented to the study. Results were available for 37 girls. All were 46,XX. Five patients with Turner syndrome were identified in the 95 girls with CoA who had karyotype analysis (4 from early karyotype and 1 diagnosed later), which translated into a minimum prevalence of 5.3% of Turner syndrome in this group of girls with CoA. In addition, one infant with a 20-cell 46,XX karyotype had features of Turner syndrome. Our study demonstrated for the first time in a large cohort that 5.3% of girls presenting with CoA are found to have Turner syndrome when karyotyping is performed. Given the spectrum of preventable and treatable health problems after the diagnosis of Turner syndrome, we believe that all girls with CoA should have a karyotype analysis, ideally with at least 50-cell count, at the time of diagnosis of CoA. Copyright © 2014 Mosby, Inc. All rights reserved.

  14. Embolization of iatrogenic uterine pseudoaneurysm

    Directory of Open Access Journals (Sweden)

    Luca Boi

    2017-05-01

    Full Text Available Uterine artery pseudoaneurysms (UAPs are rare vascular lesions that may be life threatening if not diagnosed and properly treated. The clinical presentation of UAPs includes a spectrum of symptoms that are often associated with other and more frequent gynecologic/obstetric pathologies, both with and without vaginal bleeding, and may span from postpartum hemorrhage to the absence of symptoms. We report cases of two patients with UAP, both of whom were diagnosed with ultrasonography and contrast-enhanced computed tomography and successfully treated with transcatheter embolization. The first patient presented delayed hypovolemic shock following surgery for endometriosis, whereas the second patient suffered from postpartum hemorrhage after cesarean section. Diagnosis of UAPs relies on noninvasive imaging; transcatheter arterial embolization is an effective treatment to control bleeding in both hemodynamically stable and unstable patients.

  15. A RETROSPECTIVE STUDY ON CLINICAL PRESENTATION OF STEROID SENSITIVE NEPHROTIC SYNDROME

    Directory of Open Access Journals (Sweden)

    Sosamma M. M

    2016-09-01

    Full Text Available BACKGROUND Nephrotic syndrome is a disease affecting the renal system. Most paediatricians will invariably encounter children with nephrotic syndrome in their clinic. The disease is characterised by the presence of oedema, persistent heavy proteinuria, hypoproteinaemia and hypercholesterolaemia. The disease is influenced by factors like age, geography, race and also has certain genetic influence related to HLA (DR7, B12, B8. In children, minimal change nephrotic syndrome is the most common variant of primary nephrotic syndrome. It accounts to more than eighty per cent of the cases seen children under seven years whereas it has a chance of fifty per cent in the age group of seven to sixteen years. Males are affected two times higher compared to females. The parents usually bring the child to the hospital with signs of oedema. Usually, the child recovers with treatment, but in some cases, there can be relapse. MATERIALS AND METHODS  The study was conducted in the Department of Paediatrics, Travancore Medical College, Kollam.  The study was done from January 2015 to January 2016.  Sixty cases were identified and were chosen for the study. INCLUSION CRITERIA 1. Steroid sensitive cases of nephrotic syndrome. 2. Age less than twelve years. 3. Admitted cases. EXCLUSION CRITERIA 1. Steroid-resistant and steroid-dependent cases. 2. Age more than twelve years. 3. Outpatient cases. RESULTS Out of the sixty cases studied, forty one cases belonged to male sex and nineteen cases belonged to female sex. Based on the age group, maximum number of cases belonged to age group four to eight years, which amounted to thirty four cases followed by age group eight to twelve years, which amounted to eighteen cases. Age group zero to four years had the least number of cases, which amounted to eight in number. Based on clinical signs and symptoms, fifty five cases presented with oedema either periorbital, scrotal or pedal oedema. Ten cases presented with fever

  16. A case report of Parry Romberg Syndrome initially presenting as periodontitis

    OpenAIRE

    Taylor, Greig; Culshaw, Shauna; Armas, Jose; Savarrio, Lee; Goodall, Christine

    2017-01-01

    Parry Romberg Syndrome (PRS) is a rare disorder of progressive hemifacial atrophy, involving soft tissues, fat and occasionally bone. It can co-exist with presentations of Morphea. We describe an unusual case of persistent periodontal and alveolar destruction associated with PRS. A 56-year-old African female initially presented with persistent periodontal destruction, which showed minimal response to conventional periodontal treatment. After non-surgical treatment, surgical debridement follow...

  17. Delayed Diagnosis in an Elderly Schizophrenic Patient with Catatonic State and Pulmonary Embolism

    Directory of Open Access Journals (Sweden)

    Hsueh-Chin Hu

    2013-09-01

    Full Text Available Catatonia is a syndrome with any two of five core features: stupor/motoric immobility/catalepsy/waxy flexibility, excitement, negativism/mutism, posturing, and echolalia/echopraxia. We describe a case of delayed diagnosis of pulmonary embolism with an atypical presentation in an elderly schizophrenia male patient, which led to a life-threatening brain infarction. A 75-year-old male was hospitalized in a psychiatric ward because of stupor, poor intake and mutism under a diagnosis of recurrent catatonia. His inability to express his suffering, dehydration, exacerbation of chronic obstructive pulmonary disease, and upper gastrointestinal bleeding, however, made an accurate diagnosis difficult. Finally, the high D-dimer level and further chest computed tomography confirmed pulmonary embolism in the trunk of the bilateral main pulmonary arteries. The brain computed tomography also confirmed brain infarcts. He was transferred to the cardiac intensive care unit and was eventually rescued from near death due to pulmonary embolism and brain infarction. A careful differential diagnosis for pulmonary embolism-induced delirium and catatonic state is important in the treatment of patients with a previous diagnosis of catatonic schizophrenia.

  18. Gitelman′s syndrome presenting with hypocalcemic tetany and hypokalemic periodic paralysis

    Directory of Open Access Journals (Sweden)

    Kunal Gandhi

    2016-01-01

    Full Text Available Gitelman′s syndrome is an autosomal recessive renal tubular disorder characterized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. Hypocalcemic tetany as a presentation of Gitelman′s syndrome has rarely been reported in literature. We report a rare case of Gitelman′s syndrome presenting with hypocalcemic tetany along with hypokalemic periodic paralysis. A 17-year-old female was admitted to our hospital with a history of perioral numbness and carpal spasms of five days duration with progressive quadriparesis developing over a period of few hours. Past history was significant for three episodes of transient lower limb weakness. On examination, blood pressure was 110/70 mm Hg. Chvostek′s sign and Trousseau′s sign were positive. Neurologically, she was fully oriented. She had Grade 3 power in all the four limbs with intact sensation. Laboratory tests showed hypocalcemia (7.8 mg/dL, hypokalemia (2.2 mEq/L, hypomagnesemia (0.9 mEq/L, and hypocalciuria (104 mg/day. Arterial blood gas showed mild metabolic alkalosis with respiratory compensation. Thus, a clinical diagnosis of GS was made. The patient made a remarkable recovery after the correction of electrolyte imbalance. The aim of this case report is to re-emphasize the fact that hypocalcemia can rarely occur in Gitelman′s syndrome.

  19. Radiation-induced leiomyosarcoma of the great vessels presenting as superior vena cava syndrome

    International Nuclear Information System (INIS)

    Weiss, K.S.; Zidar, B.L.; Wang, S.

    1987-01-01

    A patient with a pleomorphic intravascular leiomyosarcoma of the great vessels of the neck and mediastinum presented clinically with a superior vena cava syndrome. A latent period of 29 years elapsed between receiving orthovoltage radiation to the neck and right side of chest to treat recurrent ganglioneuroblastoma, and the appearance of a leiomyosarcoma and subsequent recurrences. The patient underwent partial resection of the tumor, received adjunct chemotherapy, and was shown to be free of disease by clinical tests and by magnetic resonance imaging (MRI) 17 months after completion of chemotherapy. The criteria for the diagnosis of radiation-induced sarcomas are reviewed in relation to the present case. The critical role of magnetic resonance imaging in both the diagnosis and continued follow-up of the patient is described. This would appear to be the first reported case of radiation-induced intravascular leiomyosarcoma of the great vessels of the neck and mediastinum presenting as a superior vena cava syndrome

  20. A rare presentation of atypical demyelination: tumefactive multiple sclerosis causing Gerstmann’s syndrome

    Science.gov (United States)

    2014-01-01

    Background Tumefactive demyelinating lesions are a rare manifestation of multiple sclerosis (MS). Differential diagnosis of such space occupying lesions may not be straightforward and sometimes necessitate brain biopsy. Impaired cognition is the second most common clinical manifestation of tumefactive MS; however complex cognitive syndromes are unusual. Case presentation We report the case of a 30 year old woman who presented with Gerstmann’s syndrome. MRI revealed a large heterogeneous contrast enhancing lesion in the left cerebral hemisphere. Intravenous corticosteroids did not stop disease progression. A tumour or cerebral lymphoma was suspected, however brain biopsy confirmed inflammatory demyelination. Following diagnosis of tumefactive MS treatment with natalizumab effectively suppressed disease activity. Conclusions The case highlights the need for clinicians, radiologists and surgeons to appreciate the heterogeneous presentation of tumefactive MS. Early brain biopsy facilitates rapid diagnosis and management. Treatment with natalizumab may be useful in cases of tumefactive demyelination where additional evidence supports a diagnosis of relapsing MS. PMID:24694183

  1. Megaloblastic anemia with peripheral neuropathy, a misleading initial presentation in POEMS syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Iadarilang Tiewsoh

    2014-01-01

    Full Text Available POEMS (peripheral neuropathy, organomegaly, endocrinopathy, M protein, skin changes syndrome is a rare multisystem paraneoplastic disorder that occurs in the setting of a plasma cell dyscrasia. A 57-year-old male with initial presentation of peripheral neuropathy of lower limbs and a peripheral blood picture of megaloblastic anemia, presented with progressive lower motor neuron weakness over few months; followed by additional features of skin hyperpigmentation, generalized lymphadenopathy, erectile dysfunction, weight loss, and an attack of cerebrovascular accident (stroke infarct which recovered. On further evaluation with time, there were presence of hepatosplenomegaly, Castleman′s disease of the lymph node on biopsy, serum electrophoresis suggestive of monoclonal gammopathy with light band lambda chain, and endocrinopathy (hypothyroidism and hypogonadism. His bone marrow was suggestive of plasmacytosis. This case report describes a patient who presented with initial picture of peripheral neuropathy with megaloblastic anemia, but when followed-up there were diverse clinical manifestations fulfilling the diagnostic clinical criteria of POEMS Syndrome.

  2. Avascular necrosis of femoral heads post-adrenal surgery for Cushing's syndrome: a rare presentation.

    LENUS (Irish Health Repository)

    2012-01-31

    Avascular necrosis (AVN) is a well-recognized complication of patients on high-dose steroids for a long time. Exogenous hypercortisolism is a well known cause of AVN and a number of cases have been reported. Cushing\\'s syndrome describes hypercortisolism of any cause endogenous or exogenous. A variety of traumatic and non-traumatic factors contribute to the aetiology of AVN although exogenous glucocorticoids administration and alcoholism are among the most common non-traumatic causes. AVN secondary to endogenous hypercortisolism is rare and very few case reports are available describing this complication. No literature is available on AVN presenting post-adrenal surgery. Here we present a young woman who presented with avascular necrosis of both hips 1 year after adrenalectomy for Cushing\\'s syndrome.

  3. Study to Evaluate Targeted Management and Syndromic Management in Women Presenting with Abnormal Vaginal Discharge.

    Science.gov (United States)

    Meena, Veena; Bansal, Charu Lata

    2016-10-01

    Vaginal discharge is a commonest complaint among women in reproductive age group. Infective vaginal discharge can be broadly categorized into vaginitis or mucopurulent cervicitis. Vaginitis is predominantly caused by bacterial vaginosis, vaginal candidiasis, vaginal trichomoniasis, etc. Mucopurulent cervicitis is due to chlamydia or gonococcal infection. The targeted management is based on identification of causative organism and targeting the therapy against it, while syndromic management is based on high risk factors's presence. To study the effect of targeted management as compared to syndromic management in achieving a complete cure for abnormal vaginal discharge and to study the microbial flora of women presenting with abnormal vaginal discharge. The study is a randomized control trial conducted at tertiary health care on 200 women who presented with abnormal vaginal discharge, distributed in two groups A and B each consisted of 100 women. Group A underwent laboratory investigations, and treatment was started as soon as reports were available. Group B was given syndromic management based on high risk factors's presence. Both groups were followed up after 2 weeks. The prevalence of various organisms in vaginal discharge was candidiasis 39 %, bacterial vaginosis 28 %, trichomoniasis 5 %, N. gonorrhoeae 5 % and chlamydia 2 % among the 100 women in group A. Response to treatment for vaginitis was 76.3 % in group A, whereas it was 41 % in group B. With cervicitis, 71.4 % women responded to treatment in targeted group as compared to 54 % in syndromic management group. There is a potential disadvantage of syndromic management because of its total reliability on a subjective clinical assessment.

  4. Acute parietal lobe infarction presenting as Gerstmann’s syndrome and cognitive decline mimicking senile dementia

    Directory of Open Access Journals (Sweden)

    Chen TY

    2013-07-01

    Full Text Available Tien-Yu Chen,1 Chun-Yen Chen,1,3 Che-Hung Yen,2,3 Shin-Chang Kuo,1,3 Yi-Wei Yeh,1,3 Serena Chang,1 San-Yuan Huang1,31Department of Psychiatry, 2Department of Neurology, Tri-Service General Hospital, School of Medicine, National Defense Medical Center, 3Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan, Republic of ChinaAbstract: Gerstmann’s syndrome encompasses the tetrad of finger agnosia, agraphia, acalculia, and right-left confusion. An elderly man with a history of several cardiovascular diseases was initially brought to the psychiatric outpatient department by his family because of worsening of recent memory, executive function, and mixed anxious-depressive mood. Gerstmann’s syndrome without obvious motor function impairment and dementia-like features could be observed at first. Emergent brain computed tomography scan revealed new left-middle cerebral artery infarction over the left posterior parietal lobe. This case reminds us that acute cerebral infarction involving the parietal lobe may present as Gerstmann’s syndrome accompanied by cognitive decline mimicking dementia. As a result, emergent organic workups should be arranged, especially for elderly patients at high risk for cerebral vascular accident.Keywords: Gerstmann’s syndrome, dementia, parietal lobe infarction

  5. Present status of understanding on the genetic etiology of polycystic ovary syndrome.

    Science.gov (United States)

    Dasgupta, S; Reddy, B Mohan

    2008-01-01

    Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age with a prevalence of approximately 7-10% worldwide. PCOS reflects multiple potential aetiologies and variable clinical manifestations. This syndrome is characterized by serious health implications such as diabetes, coronary heart diseases and cancer and also leads to infertility. PCOS can be viewed as a heterogeneous androgen excess disorder with varying degrees of reproductive and metabolic abnormalities determined by the interaction of multiple genetic and environmental factors. In this paper, we have attempted a comprehensive review of primarily molecular genetic studies done so far on PCOS. We have also covered the studies focusing on the environmental factors and impact of ethnicity on the presentation of this syndrome. A large number of studies have been attempted to understand the aetiological mechanisms behind PCOS both at the clinical and molecular genetic levels. In the Indian context, majority of the PCOS studies have been confined to the clinical dimensions. However, a concrete genetic mechanism behind the manifestation of PCOS is yet to be ascertained. Understanding of this complex disorder requires comprehensive studies incorporating relatively larger homogenous samples for genetic analysis and taking into account the ethnicity and the environmental conditions of the population/cohort under study. Research focused on these aspects may provide better understanding on the genetic etiology and the interaction between genes and environment, which may help develop new treatment methods and possible prevention of the syndrome.

  6. Pretibial Located Stewart-Treves Syndrome: Uncommon Presentation in a Bulgarian Patient!

    Science.gov (United States)

    Tchernev, Georgi; Yungareva, Irina; Mangarov, Hristo; Stavrov, Konstantin; Lozev, Ilia; Temelkova, Ivanka; Chernin, Svetoslav; Pidakev, Ivan; Tronnier, Michael

    2018-04-15

    The Stewart-Treves syndrome with localisation in the region of the lower extremities is not something unusual as clinical pathology, but the clinical diagnostics is rather difficult, and it can be further complicated maximally because of: the similar locoregional findings in patients with other cutaneous malignancies. Presented is a rare form of an epithelioid variant of the Stewart Treves syndrome in a woman, aged 81, localised in the region of the lower leg and significantly advanced only for 2 months. The diagnosis was confirmed histologically and immunohistochemically. Amputation of the affected extremity was planned. Discussed are important etiopathogenetic aspects regarding the approach in patients with lymphedema and possibility for development of the Stewart Treves syndrome. Analyzing the evidence from the literature worldwide, we concluded that perhaps the only reliable (to some extent) therapeutic option in patients with Stewart Treves Syndrome is 1) the early diagnostics and 2) the following inevitable radical excision or amputation with the maximal field of surgical security in the proximal direction.

  7. Present status of understanding on the genetic etiology of polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Dasgupta S

    2008-01-01

    Full Text Available Polycystic ovary syndrome (PCOS is the most common endocrinopathy in women of reproductive age with a prevalence of approximately 7-10% worldwide. PCOS reflects multiple potential aetiologies and variable clinical manifestations. This syndrome is characterized by serious health implications such as diabetes, coronary heart diseases and cancer and also leads to infertility. PCOS can be viewed as a heterogeneous androgen excess disorder with varying degrees of reproductive and metabolic abnormalities determined by the interaction of multiple genetic and environmental factors. In this paper, we have attempted a comprehensive review of primarily molecular genetic studies done so far on PCOS. We have also covered the studies focusing on the environmental factors and impact of ethnicity on the presentation of this syndrome. A large number of studies have been attempted to understand the aetiological mechanisms behind PCOS both at the clinical and molecular genetic levels. In the Indian context, majority of the PCOS studies have been confined to the clinical dimensions. However, a concrete genetic mechanism behind the manifestation of PCOS is yet to be ascertained. Understanding of this complex disorder requires comprehensive studies incorporating relatively larger homogenous samples for genetic analysis and taking into account the ethnicity and the environmental conditions of the population/cohort under study. Research focused on these aspects may provide better understanding on the genetic etiology and the interaction between genes and environment, which may help develop new treatment methods and possible prevention of the syndrome.

  8. Uterine Fibroid Embolization (UFE)

    Science.gov (United States)

    ... or gynecologist. top of page What are the benefits vs. risks? Benefits Uterine fibroid embolization, done under local anesthesia , is ... risk of infection. The chance of infection requiring antibiotic treatment appears to be less than one in ...

  9. A patient with cystinosis presenting like bartter syndrome and review of literature.

    Science.gov (United States)

    Ertan, Pelin; Evrengul, Havva; Ozen, Serkan; Emre, Sinan

    2012-12-01

    Nephropathic cystinosis is an autosomal recessively inherited metabolic disorder presenting with metabolic acidosis, Fanconi syndrome and renal failure. We present a 6-year-old girl with severe growth failure, hyponatremia and hypokalemia. Her parents were 4(th) degree relatives. Two relatives were diagnosed as end stage renal failure. She also had persistant hypokalemic hypochloremic metabolic alkalosis. Her renal function was normal at presentation. She was thought to have Bartter syndrome with supporting findings of elevated levels of renin and aldosterone with normal blood pressure, and hyperplasia of juxtaglomerular apparatus. Her metabolic alkalosis did not resolve despite supportive treatment. At 6(th) month of follow-up proteinuria, glucosuria and deterioration of renal function developed. Diagnosis of cystinosis was made with slit lamp examination and leukocyte cystine levels. At 12(th) month of follow-up her metabolic alkalosis has converted to metabolic acidosis. In children presenting with persistant metabolic alkalosis, with family history of renal failure, and parental consanguinity, cystinosis should always be kept in mind as this disease is an important cause of end stage renal failure which may have features mimmicking Bartter syndrome.

  10. Giant cell lesion of the jaw as a presenting feature of Noonan syndrome.

    Science.gov (United States)

    Sinnott, Bridget P; Patel, Maya

    2018-05-30

    This is a case of a 20-year-old woman who presented with a left jaw mass which was resected and found to be a giant cell granuloma of the mandible. Her history and physical examination were suggestive for Noonan syndrome which was confirmed with genetic testing and the finding of a PTPN11 gene mutation which has rarely been associated with giant cell lesions of the jaw. Given her particular genetic mutation and the presence of a giant cell lesion, we present a case of Noonan-like/multiple giant cell lesion syndrome. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  11. Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management.

    Science.gov (United States)

    Da Aw, Lin; Zain, Murizah M; Esteves, Sandro C; Humaidan, Peter

    2016-01-01

    A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinar team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management. Copyright® by the International Brazilian Journal of Urology.

  12. A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis.

    Science.gov (United States)

    Nath, Kamal; Boro, Bhanita; Naskar, Subrata

    2016-04-01

    The psychiatric co-morbidities in female population with mullerian agenesis is an area with limited research. This is probably due to the fact that when those patients are diagnosed not much attention or information is given for long term psychiatric follow-up. Owing to their inability to bear children, these subjects often become socially harassed. Thus these constant stressors may lead to development of psychopathology in future. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital abnormality with absence of uterus, cervix and vagina, but normal secondary sexual characteristics and external genitalia and occurs in every 1 out of 4000-10,000 females. There is also limited literature on the probable common chromosomal aetiology for both psychosis and MRKH patients. We, present here a case of MRKH syndrome, whose initial presentation was psychosis only. In this respect, we also highlight the much neglected need of appropriate psychiatric screening and provision of psychiatric care in this population.

  13. Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

    Directory of Open Access Journals (Sweden)

    Lin Da Aw

    Full Text Available ABSTRACT Main findings: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinary team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.

  14. Mesangioproliferative glomerulonephritis in a patient with Kimura′s disease presenting as Nephrotic syndrome

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    Surendra Singh Rathore

    2015-01-01

    Full Text Available Kimura′s disease is a rare chronic eosinophilic inflammatory disorder of unknown etiology. Majority of cases have been reported from South East Asia, while sporadic occurrences have been reported worldwide, including the Indian subcontinent. Nephrotic syndrome may be the presenting manifestation of Kimura′s disease, and a variety of renal lesions are observed histologically in such patients. We herein describe a case of steroid-responsive mesangioproliferative glomerulonephritis related to kimura′s disease.

  15. Progressive multifocal leukoence-phalopathy presenting as homonymous hemianopia in a patient with acquired immunodeficiency syndrome

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    Amit Pandey

    2012-01-01

    Full Text Available We present a case of a Human Immunodeficiency Virus (HIV positive patient who was referred for retinal evaluation to rule out ophthalmic manifestations of Acquired Immunodeficiency Syndrome (AIDS. She complained of some disturbance in vision in both eyes. Fundus examination showed no abnormality. Perimetry, done to rule out optic nerve pathology, showed a left homonymous hemianopia. Magnetic Resonance Imaging (MRI scan showed features of Progressive Multifocal Leukoencephalopathy (PML. She had no other neurological symptoms or signs.

  16. Progressive multifocal leukoence--phalopathy presenting as homonymous hemianopia in a patient with acquired immunodeficiency syndrome.

    Science.gov (United States)

    Pandey, Amit; Bandivdekar, Karishma; Ramchandani, Suresh; Ramchandani, Sushama

    2012-01-01

    We present a case of a Human Immunodeficiency Virus (HIV) positive patient who was referred for retinal evaluation to rule out ophthalmic manifestations of Acquired Immunodeficiency Syndrome (AIDS). She complained of some disturbance in vision in both eyes. Fundus examination showed no abnormality. Perimetry, done to rule out optic nerve pathology, showed a left homonymous hemianopia. Magnetic Resonance Imaging (MRI) scan showed features of Progressive Multifocal Leukoencephalopathy (PML). She had no other neurological symptoms or signs.

  17. Immune reconstitution syndrome presenting as probable AIDS-related lymphoma: a case report

    OpenAIRE

    Christensen Charlotte B; Nielsen Susanne D; Mortensen Bo K; Helweg-Larsen Jannik

    2011-01-01

    Abstract We report an unusual case of HIV-related immune reconstitution inflammatory syndrome, presenting as suspected AIDS-related lymphoma. Symptoms, initial investigations including fine-needle biopsy and 18F-FDG PET/CT scan were highly compatible with high grade AIDS-related lymphoma, however subsequently IRIS was diagnosed. We discuss pitfalls in the interpretation of diagnostic results in ARL versus IRIS.

  18. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report

    OpenAIRE

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-01-01

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous in...

  19. A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report

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    Hennessy Michael J

    2008-02-01

    Full Text Available Abstract Background Occupational overuse syndrome (OOS can present as Guyon's canal syndrome in computer keyboard users. We report a case of Guyon's canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS. Case presentation A 54-year-old female secretary was referred with a six-month history of right little finger weakness and difficulty with adduction. Prior to her referral, she was diagnosed by her general practitioner and physiotherapist with a right ulnar nerve neuropraxia at the level of the Guyon's canal. This was thought to be secondary to computer keyboard use and direct pressure exerted on a wrist support. There was obvious atrophy of the hypothenar eminence and the first dorsal interosseous muscle. Both Froment's and Wartenberg's signs were positive. A nerve conduction study revealed that both the abductor digiti minimi and the first dorsal interosseus muscles showed prolonged motor latency. Ulnar conduction across the right elbow was normal. Ulnar sensory amplitude across the right wrist to the fifth digit was reduced while the dorsal cutaneous nerve response was normal. Magnetic resonance imaging of the right wrist showed a ganglion in Guyon's canal. Decompression of the Guyon's canal was performed and histological examination confirmed a ganglion. The patient's symptoms and signs resolved completely at four-month follow-up. Conclusion Clinical history, occupational history and examination alone could potentially lead to misdiagnosis of OOS when a computer user presents with these symptoms and we recommend that nerve conduction or imaging studies be performed.

  20. Primary presentation of Jeune's syndrome as gastric motility disorder in an infant: A case report

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    Amit Katyan

    2018-01-01

    Full Text Available We report a case of a 4-week-old female neonate with Jeune's asphyxiating thoracic dystrophy (JATD and coexistent situs anomaly, primarily presenting as gastric motility disorder. The child presented with abdominal distension and nonbilious vomiting since birth with failure to thrive. However, skeletal survey revealed JATD. Upper gastrointestinal contrast study showed situs inversus with delayed gastric emptying. Pyloric biopsy and intraoperative antro-duodenal manometry confirmed association of gastric motility disorder. Awareness of the unusual possibility of primary presentation of Jeune syndrome as gastric motility disorder will improve the management approach in such infants.

  1. A Presentation of Massive Hemoptysis in a Patient with Churg-Strauss Syndrome

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    Fadi Hikmat

    2014-01-01

    Full Text Available Given that Churg-Strauss syndrome is a systemic small-vessel vasculitis, it is not usually considered in patients who present with massive hemoptysis, which is typically caused by bronchiectasis, cancer or, in some cases, aberrant bronchial arteries. This article, however, describes a novel case involving a 50-year-old Churg-Strauss patient who presented with sudden-onset massive hemoptysis. Details of the physical examination, laboratory investigations and several imaging studies, including computed tomography, bronchoscopy and three-dimensional imaging, are presented.

  2. Persistent Mullerian duct syndrome presenting as an inguinal hernia : A case report

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    Amit Dangi

    2016-10-01

    Full Text Available A brief report of persistent mullerian duct syndrome (PMDS with 46XY karyotype which is one of the rarest variety of disorders of sexual differentiation (DSD accounting only 5% cases of all is being presented. A 21 years old male with left inguinal hernia and absent right testis presented in surgical outdoor and was operated. On exploration female genital organs like uterus and fallopian tubes along with contralateral testis were present in left inguinal canal as a content of sliding left inguinal hernia.

  3. Primary mediastinal melanoma presenting as superior vena cava syndrome: A case study

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    Ann C Gaffey

    2016-03-01

    Full Text Available The rates of melanoma have increased over the past 30 years. Malignant melanoma most commonly occurs in the skin with secondary involvement of other organs. Here, we present an extremely rare case of malignant melanoma of the mediastinum with presentation of superior vena cava syndrome without clinical evidence of extrathoracic disease. The incidence of this clinical presentation is uncommon, resulting in only a handful of case reports in the literature. [Arch Clin Exp Surg 2016; 5(1.000: 56-58

  4. Cerebral fat embolism: Use of MR spectroscopy for accurate diagnosis

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    Laxmi Kokatnur

    2015-01-01

    Full Text Available Cerebral fat embolism (CFE is an uncommon but serious complication following orthopedic procedures. It usually presents with altered mental status, and can be a part of fat embolism syndrome (FES if associated with cutaneous and respiratory manifestations. Because of the presence of other common factors affecting the mental status, particularly in the postoperative period, the diagnosis of CFE can be challenging. Magnetic resonance imaging (MRI of brain typically shows multiple lesions distributed predominantly in the subcortical region, which appear as hyperintense lesions on T2 and diffusion weighted images. Although the location offers a clue, the MRI findings are not specific for CFE. Watershed infarcts, hypoxic encephalopathy, disseminated infections, demyelinating disorders, diffuse axonal injury can also show similar changes on MRI of brain. The presence of fat in these hyperintense lesions, identified by MR spectroscopy as raised lipid peaks will help in accurate diagnosis of CFE. Normal brain tissue or conditions producing similar MRI changes will not show any lipid peak on MR spectroscopy. We present a case of CFE initially misdiagnosed as brain stem stroke based on clinical presentation and cranial computed tomography (CT scan, and later, MR spectroscopy elucidated the accurate diagnosis.

  5. Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

    Science.gov (United States)

    Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

    2014-01-01

    Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  6. Guillain-Barré Syndrome as First Presentation of Non-Hodgkin's Lymphoma

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    Abolhassan Ertiaei

    2016-07-01

    Full Text Available We present a woman referred with underlying non-Hodgkin's lymphoma (NHL masquerading clinically with Guillain-Barré syndrome (GBS like syndrome. At first evaluation, chest CT-Scan along with brain and whole spine MRI were normal. Electrodiagnostic studies were in favor of acute generalized polyradiculoneuropathy. Laboratory evaluation revealed hypoglycorrhachia. She treated with plasmapheresis after two weeks; she was discharged from hospital, but neurological recovery was not complete. After 6 months, she came back with acute onset of weakness in lower limbs, back pain, fever and urinary incontinence. Pinprick and light touch complete sensory loss was found beneath umbilicus. Thoracic MRI with contrast revealed a dorsal epidural mass extending smoothly from T8 to T12 (10 cm with spinal cord compression. She underwent urgent laminectomy for spinal cord decompression. Histological examination revealed small round cell tumor suggestive of malignant T-cell type lymphoma. In cases with Guillain-Barré syndrome presentation, systemic hematologic disorders such as non-Hodgkin's lymphoma should be considered as one of the differential diagnosis of underlying disease.

  7. Multiple sclerosis presented as clinically isolated syndrome: the need for early diagnosis and treatment

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    Sigliti-Henrietta Pelidou

    2008-06-01

    Full Text Available Sigliti-Henrietta Pelidou, Sotirios Giannopoulos, Sotiria Tzavidi, Georgios Lagos, Athanassios P KyritsisDepartment of Neurology, University of Ioannina School of Medicine, GreeceObjective: To aid in the timely diagnosis of patients who present with clinically isolated syndrome (CIS.Patients and methods: We studied 25 patients (18 women, 7 men, originally presented in our clinic with a CIS suggestive of multiple sclerosis (MS. All patients underwent the full investigation procedure including routine tests, serology, cerebrospinal fluid (CSF examinations, evoked potentials (EPs, and magnetic resonance imaging (MRI of brain and cervical spinal cord. Patients were imaged at baseline, and every three months thereafter up to a year.Results: The CIS was consisted of optic neuritis in 12 cases, incomplete transverse myelitis (ITM in 7 cases, Lhermitte sign in 2 cases, internuclear ophthalmoplegia (INO in 2 cases, mild brainstem syndrome in 1 case, and tonic-clonic seizures in 1 case. Using the baseline and three-month scans 18/25 (72% patients developed definite MS in one year of follow up while 7 (28% had no further findings during this observation period. Immunomodulatory treatments were applied to all definite MS patients.Conclusion: In light of new treatments available, MRIs at 3 month intervals are helpful to obtain the definite diagnosis of MS as early as possible.Keywords: multiple sclerosis, clinically isolated syndrome, optic neuritis, transverse myelitis

  8. Lemierre syndrome presenting as acute mastoiditis in a 2-year-old girl with congenital dwarfism

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    Jason B. Fischer

    2015-06-01

    Full Text Available Lemierre syndrome is defined by septic thrombophlebitis of the internal jugular vein caused by Fusobacterium. Historically, these infections originate from the oropharynx and typically are seen in older children, adolescents and young adults. More recently, otogenic sources in younger children have been described with increasing frequency. We present a case of a two-year old, who initially developed an otitis media with perforation of the tympanic membrane and went on to develop mastoiditis and non-occlusive thrombosis of the venous sinus and right internal jugular vein. Fusobacterium necrophorum was grown from operative cultures of the mastoid, ensuing computed tomography scan revealed occlusion of the internal jugular vein and the patient was successfully treated with clindamycin, ciprofloxacin and enoxaparin. This case demonstrates the importance of considering Fusobacterium in otogenic infections and the consideration of Lemierre syndrome when F. necrophorum is identified.

  9. Wilson’s disease presenting with HELLP syndrome; A case report

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    Sümeyra Nergiz Avcıoğlu

    2015-03-01

    Full Text Available Wilson’s disease (WD is an autosomal recessive disorder. It is characterized by toxic accumulation of copper mainly in the liver and brain but also in cornea and kidney due to a defect in biliary excretion of copper. The hepatic manifestation of WD is diverse and may include asymptomatic elevation of aminotransferase, chronic hepatitis, cirrhosis, or acute/fulminant hepatic failure. Characteristic of acute hepatic failure in WD is concomitance of acute intravascular hemolytic anemia. Acute intravascular hemolytic anemia and thrombocytopenia in WD may be interpreted as a feature of Hemolysis, Elevated Liver Enzymes, Low Platelet Count (HELLP syndrome besides acute liver failure. The differential diagnosis may be very difficult. Here, WD in pregnancy presenting with clinical symptoms of HELLP syndrome and developing acute liver failure in postpartum period is discussed.

  10. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report.

    Science.gov (United States)

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-12-23

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous injury and subsequently these were confirmed on surgery.Although it is a rare syndrome, early diagnosis and treatment prevents permanent neurological deficits and improve patient's quality of life.

  11. Persistent Müllerian duct syndrome with transverse testicular ectopia presenting as an incarcerated inguinal hernia.

    Science.gov (United States)

    Kaul, A; Srivastava, K N; Rehman, S M F; Goel, V; Yadav, V

    2011-12-01

    The presence of both of the testes in one scrotal sac is one of the very rare presentations of testicular ectopia, which is known as transverse testicular ectopia (TTE) and is also known as crossed testicular ectopia. The presence of the uterus and fallopian tubes in a normally virilized male is termed as persistent Müllerian duct syndrome (PMDS). We report a case of an adult male who had a unique combination of both TTE and PMDS presenting as an incarcerated inguinal hernia.

  12. Traumatic atlanto-occipital dissociation presenting as locked-in syndrome.

    Science.gov (United States)

    Desai, Rupen; Kinon, Merritt D; Loriaux, Daniel B; Bagley, Carlos A

    2015-12-01

    We present an unusual presentation of unstable atlanto-occipital dissociation as locked-in syndrome. Traumatic atlanto-occipital dissociation is a severe injury that accounts for 15-20% of all fatal cervical spinal injuries. A disruption occurs between the tectorial ligaments connecting the occipital condyle to the superior articulating facets of the atlas, resulting in anterior, longitudinal, or posterior translation, and it may be associated with Type III odontoid fractures. Furthermore, the dissociation may be complete (atlanto-occipital dislocation) or incomplete (atlanto-occipital subluxation), with neurologic findings ranging from normal to complete quadriplegia with respiratory compromise. Copyright © 2015 Elsevier Ltd. All rights reserved.

  13. Herlyn–Werner–Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis

    International Nuclear Information System (INIS)

    Ahmad, Zohra; Goyal, Ankur; Das, Chandan J; Deka, Dipika; Sharma, Raju

    2013-01-01

    Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report here a 22-year-old female presenting with primary infertility where magnetic resonance imaging (MRI) suggested the diagnosis of HWWS with endometriosis. In a patient of infertility with endometriosis and unilateral renal agenesis, diagnosis of HWWS should be suspected and MRI is the investigation of choice for such anomalies

  14. Retrieval of Embolized Amplatzer Patent Foramen Ovale Occlusion Device: Issues Related to Late Recognition

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    Allan J. Davies

    2017-01-01

    Full Text Available Embolization of a percutaneous patent foramen ovale (PFO closure device is a rare but serious complication. While early, periprocedural device embolization can normally be managed with snare and percutaneous retrieval, late embolization requires a different management strategy due to inability of the device to deform to allow passage into a large caliber sheath. We present a case of asymptomatic device embolization recognized six months following implantation and discuss the challenges encountered in successfully retrieving the device.

  15. Uterine Necrosis after Uterine Artery Embolization for Symptomatic Fibroids

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    Steve Kyende Mutiso

    2018-01-01

    Full Text Available Introduction. Uterine artery embolization (UAE is a minimally invasive intervention that is used in the treatment of fibroids. UAE can lead to complications including postembolization syndrome, postprocedure pain, infection, endometrial atrophy leading to secondary amenorrhea, and uterine necrosis. Uterine necrosis after UAE is very rare and hence poses a clinical dilemma for any clinician in its identification and management. We document a case of uterine necrosis after UAE and conduct a literature review on its causation, clinical features, and management principles. Case. A patient presented one month after UAE with abdominal pain and abdominal vaginal discharge. Her work-up revealed features of possible uterine necrosis with sepsis and she was scheduled for a laparotomy and a subtotal hysterectomy was performed. She was subsequently managed with broad spectrum antibiotic and recovered well. Conclusion. Uterine necrosis after UAE is a rare occurrence and we hope the documentation of this case will add to the body of knowledge around it. Theories that explain its occurrence include the use of small particles at embolization, the use of Contour-SE a spherical poly-vinyl alcohol, and lack of collateral supply to the uterus. Its symptoms may be nonspecific but unremitting abdominal pain is invariably present. Finally although conservative management may be successful at times, surgical management with hysterectomy will be required in some cases. The prognosis is good after diagnosis and surgical management.

  16. Clinical Presentation, Treatment and Prognosis in Children with Reye-like Syndrome

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    Sukru Arslan

    2013-10-01

    Full Text Available We performed a retrospective study to explore the mortality rates and prognosis of the Reye like syndrome in patients treated at Konya Research and Education Hospital. Twenty two children with ages between 5 months and 7 years old were included in this study. All patients were treated with intensive supportive methods to manage body fluid, blood circulation, respiration, body temperature, and intracranial pressure. The main presenting features were history of fever (72.7%, profuse vomiting (63.6%, abnormal behavior and agitation (77.2%, and sudden onset of unconsciousness (100%. The etiologies of patients included viral illness, gastroenteritis, metabolic disorders, intoxication and hypoxia due to foreign body aspiration. No neurological deficit was seen in the children who survived the disease. In our patients the mortality rate was 31.8%. In conclusion, Reye like syndrome occurs only rarely but should be a part of the differential diagnosis of any encephalopathy of unknown origin and above all if there is a history of ingestion of drugs, previous viral infection and vomiting. Our treatment protocol is safe and effective in children with Reye like syndrome.

  17. Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.

    Science.gov (United States)

    Gradstein, Libe; Hansen, Ronald M; Cox, Gerald F; Altschwager, Pablo; Fulton, Anne B

    2017-04-01

    We report for the first time electroretinographic (ERG) evidence of progressive retinal abnormalities in a girl who presented in infancy with ocular features of albinism and gradually developed choroidal sclerosis and patchy retinal atrophy leading to a diagnosis of Knobloch syndrome (KS, OMIM 267750, COL18A1). At age 2 months, nystagmus and esotropia prompted ophthalmic evaluation. The appearance of choroidal sclerosis and atrophic retinal patches led to further evaluation at age 8 years. Genetics consultation was obtained in infancy and again at age 8 years as retinal findings evolved. Full field ERG responses in both scotopic and photopic conditions were recorded at both ages and compared to those in healthy control subjects. At age 2 months ERG response parameters were within normal limits for age and tyrosinase (TYR) gene sequencing revealed one novel mutation, p.S466F, and the temperature-sensitive polymorphism, p.R402Q, suggesting the diagnosis of oculocutaneous albinism type 1 (OCA1). At age 8 years, there was significant attenuation of both scotopic and photopic ERG responses. Genetic re-analysis led to the identification of a homozygous mutation, c.3213dupC, in the COL18A1 gene, thus confirming the diagnosis of Knobloch syndrome. Our patient with Knobloch syndrome developed abnormal ERG responses similar to those found in col18a1 knockout mice. Thus, we have documented progressive attenuation of the scotopic and photopic responses in KS.

  18. Wolff-Parkinson-White Syndrome in a Term Infant Presenting With Cardiopulmonary Arrest.

    Science.gov (United States)

    Hoeffler, Christina D; Krenek, Michele E; Brand, M Colleen

    2016-02-01

    Wolff-Parkinson-White syndrome is a congenital abnormality of the cardiac conduction system caused by the presence of an abnormal accessory electrical pathway between the atria and the ventricles. This can result in intermittent tachyarrhythmias such as supraventricular tachycardia. In rare occasions, sudden death may occur from atrial fibrillation with rapid ventricular conduction. Supraventricular tachycardia typically has a sudden onset and offset, classified as a paroxysmal arrhythmia. Because of the variable occurrence, Wolff-Parkinson-White syndrome may go undiagnosed in the immediate newborn period. To highlight arrhythmia as a possible cause of sudden decompensation in infants. The clinical presentation of this infant is complex and a number of potential diagnoses were considered. Preexcitation on electrocardiogram resulted in the diagnosis of Wolff-Parkinson-White syndrome. Nurses caring for infants should be alert to tachycardia and irregularities of the heart rate, including those in the prenatal history, and should report them for evaluation. While all parents should be taught to watch for signs of illness, parents of infants with Wolff-Parkinson-White have additional learning needs, including recognizing early signs and symptoms of heart failure.

  19. Posterior reversible encephalopathy syndrome in liver transplant patients: clinical presentation, risk factors and initial management.

    Science.gov (United States)

    Cruz, R J; DiMartini, A; Akhavanheidari, M; Iacovoni, N; Boardman, J F; Donaldson, J; Humar, A; Bartynski, W S

    2012-08-01

    Posterior reversible encephalopathy syndrome (PRES) is an uncommon but well-known complication after transplantation diagnosed by characteristic radiological features. As limited data on this complex syndrome exist we sought to better define the incidence, clinical presentation and risk factors for PRES in liver transplant (LTx) patients. We conducted a retrospective analysis of 1923 adult LTx recipients transplanted between 2000 and 2010. PRES was diagnosed radiologically in 19 patients (1%), with 84% of cases occurring within 3 months post-LTX. We compared this cohort of PRES patients to 316 other LTx recipients also requiring radiographic imaging within 3 months after LTx for neurological symptoms. Seizure was the most common clinical manifestation in the PRES group (88% vs. 16%, pliver disease and infection/sepsis. These factors may be related to a common pathway of vascular dysregulation/damage that appears to characterize this complex syndrome. Intracranial bleeding and seizures may be the end result of these phenomena. The relationship of these associated factors to the hypothesized pathophysiology of PRES is discussed. © Copyright 2012 The American Society of Transplantation and the American Society of Transplant Surgeons.

  20. Phospholipid Syndrome and Vasculitis as a presentation of Systemic Lupus Erythematosus. Case report.

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    Sila Castellón Mortera

    2013-09-01

    Full Text Available The systemic Lupus Erythematosus is presented, generally, as a poli articular syndrome, with a long period of fever nephritico or nephrotico; other clinical ways are: neuropsychiatry, vasculitis, etc. They appeared in a progressive manner; but in rare cases as a sickness debutant. It has not being reported in Sancti Spiritus Province patients in which matches the debut of the systemic Lupus Erythematosus with the manifestations of phospholipid syndrome. A Woman with 24 years of age is hospitalized having vasculitis, articular pains, thrombose in her right foot, detecting anticoagulante lupico and possitive Rematoideo factor with periferic pattern diffused in the Inmunoelectroforesis. 5 years later was hospitalized again with poliserositis. She had a positive evolution with a dose in a month of Intacglobin and anticoagulante treatment. Two years later she was hospitalized with articular pains proving she had livedo reticular on her left knee and Raynaud phenomenon on her foot. Beta Prebeta Index and high triglycerides. Lupico anticoagulant positive again. A treatment with Intacglobin and Prednisona was given to the patient with a better clinic without being hospitalized again. There is no evidence (at 17 years of age of a sickness debut of renal dissorder. It is about a Systemic Lupus Eritematoso which debut was a vasculitis and a Phospholipid Syndrome associated.

  1. Osteolytic-variant POEMS syndrome: an uncommon presentation of ''osteosclerotic'' myeloma

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    Clark, Michael S.; Howe, Benjamin M.; Glazebrook, Katrina N.; Broski, Stephen M. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Mauermann, Michelle L. [Mayo Clinic, Department of Neurology, Rochester, MN (United States)

    2017-06-15

    Polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (POEMS) syndrome, a form of osteosclerotic myeloma, is a multisystem disease related to a monoclonal plasma cell proliferative disorder. Osseous lesions are most commonly sclerotic on radiographs and computed tomography (CT), demonstrate low T1 and T2 signal intensity on magnetic resonance imaging (MRI), and have variable degrees of avidity on positon emission tomography (PET) imaging using 18-fluorodeoxyglucose ({sup 18}F-FDG). We present three cases of POEMS syndrome manifesting as osteolytic lesions with indolent features, including well-defined thin sclerotic rims, no cortical disruption or periosteal reaction, no associated soft-tissue mass, and a periarticular location, all features that could lead to misinterpretation as benign bone lesions. We also report increased T1 signal and diffuse solid enhancement of these lesions on MRI, features previously unreported. POEMS syndrome should not be discounted as a diagnostic consideration in the setting of osteolytic lesions with non-aggressive imaging characteristics on radiographs or CT, especially in the presence of other supportive clinical features. (orig.)

  2. Parkinsonian syndromes presenting with circadian rhythm sleep disorder- advanced sleep-phase type.

    Science.gov (United States)

    Shukla, Garima; Kaul, Bhavna; Gupta, Anupama; Goyal, Vinay; Behari, Madhuri

    2015-01-01

    Circadian rhythm sleep disorder-advanced sleep-phase type is a relatively uncommon disorder, mostly seen among the elderly population. Impaired circadian rhythms have been reported in neurodegenerative conditions; however, there are no reports of any circadian rhythm sleep disorder among patients with Parkinsonian syndromes. We report two patients who presented with this circadian rhythm disorder, and were then diagnosed with a Parkinsonian syndrome. The cases. A 65-year-old retired man presented with history of abrupt change in sleep schedules, sleeping around 6.30-7 p.m. and waking up around 3-4 a.m. for the last 2 months. On detailed examination, the patient was observed to have symmetrical bradykinesia and cogwheel rigidity of limbs. A diagnosis of multiple system atrophy was made, supported by MRI findings and evidence of autonomic dysfunction. Symptoms of change in sleep-wake cycles resolved over the next 1 year, while the patient was treated with dopaminergic therapy. A 47-year-old man, who was being evaluated for presurgical investigation for refractory temporal lobe epilepsy, presented with complaints suggestive of dysarthria, bradykinesia of limbs and frequent falls for 5 months. Simultaneously, he began to sleep around 7 p.m. and wake up at about 2-3 a.m. Examination revealed severe axial rigidity, restricted vertical gaze and bradykinesia of limbs. A diagnosis of progressive supranuclear palsy was made. This is the first report of Parkinson's plus syndromes presenting with a circadian rhythm sleep disorder-advanced sleep-phase type. More prospective assessment for circadian sleep disorders may introduce useful insights into similar associations. Copyright 2015, NMJI.

  3. Misdiagnosis of Bland-White-Garland Syndrome: Report of Two Cases with Different Presentations

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    Akbar Molaei

    2014-03-01

    Full Text Available Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA or Bland-White-Garland syndrome is usually an isolated cardiac anomaly but, in rare incidences, has been described with patent ductus arteriosus, ventricular septal defect, and tetralogy of Fallot. This syndrome may cause sudden death in infants and young people but in this case report we present two different types of presentation. First case was a 3 year old girl diagnosed with dilated cardiomyopathy since her infancy. Her electrocardiography showed prominent Q wave in lateral leads. Dilated right coronary artery was revealed by echocardiography. The second case was a girl with prolapsed mitral valve and chest pain but similar to first case she had prominent Q wave in lateral leads at her electrocardiography and dilated right coronary artery but without heart failure. ALCAPA in children may present with ambiguous presentations differing from dilated cardiomyopathy and full blown heart failure to an atypical chest pain attributed to prolapsed mitral valve.

  4. Eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome) presenting as diffuse myositis.

    Science.gov (United States)

    Parent, Marc-Etienne; Larue, Sandrine; Ellezam, Benjamin

    2014-11-21

    Eosinophilic granulomatosis with polyangiitis is a complex multisystemic syndrome with heterogeneous presentation. Most often, there is a clinical history of asthma or other atopic conditions, and current presentation generally includes signs of cutaneous or pulmonary involvement. Very few reports described myalgia or weakness as the chief complaint. Of these, only a few included muscle biopsy evaluation and none showed convincing evidence of primary myositis. We believe this report is the first to demonstrate true myositis in the setting of early eosinophilic granulomatosis with polyangiitis. This report describes a 74 year old Caucasian man, with no known allergies, presenting severe myalgia, muscle weakness, jaw claudication, and fever. Blood work showed marked eosinophilia and high creatine kinase levels. Biceps brachialis muscle biopsy revealed eosinophilic necrotizing vasculitis and true myositis with myophagocytosis of non-necrotic fibers and strong sarcolemmal MHC-1 overexpression by immunohistochemistry. This patient was successfully treated with prednisone and azathioprine. Our finding of true myositis in a case of eosinophilic granulomatosis with polyangiitis suggests that primary auto-immunity against muscle fibers, distinct from the secondary effects of vasculitis, can occur in this entity and may represent an overlap syndrome. Early recognition of eosinophilic granulomatosis with polyangiitis in patients presenting with myositis may provide an opportunity to treat the vasculitis before onset of severe multisystemic disease. We recommend the use of muscle biopsy with immunohistochemistry for MHC-1 to confirm the diagnosis of myositis in the setting of eosinophilic granulomatosis with polyangiitis.

  5. Permanent Cortical Blindness After Bronchial Artery Embolization

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    Doorn, Colette S. van, E-mail: cvandoorn@gmail.com; De Boo, Diederick W., E-mail: d.w.deboo@amc.uva.nl [Academic Medical Centre, Department of Radiology (Netherlands); Weersink, Els J. M., E-mail: e.j.m.weersink@amc.uva.nl [Academic Medical Centre, Department of Pulmonology (Netherlands); Delden, Otto M. van, E-mail: o.m.vandelden@amc.uva.nl; Reekers, Jim A., E-mail: j.a.reekers@amc.uva.nl; Lienden, Krijn P. van, E-mail: k.p.vanlienden@amc.uva.nl [Academic Medical Centre, Department of Radiology (Netherlands)

    2013-12-15

    A 35-year-old female with a known medical history of cystic fibrosis was admitted to our institution for massive hemoptysis. CTA depicted a hypertrophied bronchial artery to the right upper lobe and showed signs of recent bleeding at that location. Bronchial artery embolization (BAE) was performed with gelfoam slurry, because pronounced shunting to the pulmonary artery was present. Immediately after BAE, the patient developed bilateral cortical blindness. Control angiography showed an initially not opacified anastomosis between the embolized bronchial artery and the right subclavian artery, near to the origin of the right vertebral artery. Cessation of outflow in the bronchial circulation reversed the flow through the anastomosis and allowed for spill of embolization material into the posterior circulation. Unfortunately the cortical blindness presented was permanent.

  6. Ectopic adrenocorticotropic hormone syndrome in a case of duodenal neuroendocrine tumor presenting with liver metastasis

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    J Khare

    2018-01-01

    Full Text Available Ectopic adrenocorticotropic hormone (ACTH syndrome is an uncommon disorder and comprises about 15% of all patients with Cushing's syndrome (CS. Duodenal carcinoids are rare, indolent tumors usually associated with a benign progression. We hereby report a rare case of CS resulting from ectopic ACTH secretion from a duodenal neuroendocrine tumor (NET presenting with liver metastasis. A 37-year-old female presented with abdominal discomfort and dyspepsia of 1-month duration. Ultrasound abdomen suggested a well-defined hypoechoic lesion in the left lobe of the liver, suggestive of neoplasia. On clinical examination, she had Cushingoid features and persistent hypokalemia. Midnight ACTH and cortisol levels were grossly elevated at 1027 pg/ml (n < 46 pg/ml and 87.56 μg/dl (n < 7.5 μg/ml, respectively. Both overnight and high-dose dexamethasone suppression test confirmed nonsuppressed cortisol levels - 86.04 and 84.42 μg/dl (n < 1.8 μg/ml, respectively. Magnetic resonance imaging brain showed a structurally normal pituitary gland. Computed tomography scan of the abdomen revealed hepatic lesion with bilateral adrenal enlargement. A diagnosis of ectopic ACTH-dependent CS was made. Intraoperatively, a duodenal lesion of 0.5 cm × 0.5 cm was identified alongside an 8 cm × 6 cm exophytic lesion in segment IV of the liver. Frozen section of the duodenal lesion was positive for NET. She underwent a Whipple's surgery, cholecystectomy, and left hepatic lobectomy. Postoperatively, she showed clinical and biochemical remission. Herewith, we report the third case of duodenal carcinoid tumor presenting as ectopic ACTH syndrome and the first with liver metastasis.

  7. METABOLIC DISORDERS AND PULMONARY EMBOLISM

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    O. Ya. Vasiltseva

    2015-01-01

    Full Text Available The purpose of the study. To examine the contribution of diabetes and obesity in the development of pulmonary embolism on the based data of the Register of new hospital of pulmonary embolism (PE in hospitals inTomsk(2003–2012. Material and Methods. The medical history and records of autopsies of patients treated in hospitals in the city ofTomsk, 2003–2012, and anatomopathological and/or instrumental examination revealed pulmonary embolism have been subjected to studies. We used the classification of diabetes mellitus proposed by the WHO in1999 inour work, because the register including data (2003–2012. The degree of obesity was assessed according to WHO classification (1997. Statistical analysis of the results was carried out with the help of software for computer Statistica for Windows, version 8.0. The Shapiro–Wilk and Kolmogorov–Smirnov tests was used to determine the nature of the distribution of the data. The ho mogeneity of the population variance was assessed using Fisher's exact test andLeuventest. The Mann– Whitney test was used when comparing two independent samples to determine the significance of differences. The analysis was conducted by means of qualitative characteristics contingency tables using Pearson χ 2 . The odds ratio was calculated to assess the association between a specific outcome and the risk. Data are presented as M ± SD factor. The significance level of p for all procedures used by the statistical analysis was taken to be 0.05. It was considered statistically significant level of p < 0.05. The results of the study. In intermediate urbanized city ofWestern Siberia,Tomsk, established register of hospital pulmonary embolism (2003–2012. The register included 751patients whose in vivo and / or postmortem revealed pulmonary embolism (PE. The data histories and autopsy reports was analyze. The type 2diabetes was diagnosed in 205 patients. The type 2 diabetes moderate had 29%. Diabetes severe suffer 82

  8. Salmonella pyomyositis with concurrent sacroiliac osteomyelitis presenting as piriformis syndrome: A rare case

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    P S Phadke

    2017-01-01

    Full Text Available A-21-year old male admitted with fever and piriformis syndrome, typically associated with gluteal region pain radiating down the thigh, was evaluated and found to have pyomyositis involving piriformis and osteomyelitis with sacroiliac joint affection on radiological imaging. Salmonella serotype typhi was isolated from blood culture. He was treated with intravenous Ceftriaxone for 6 weeks with signs of recovery documented clinically as well as on imaging studies. Salmonella pyomyositis with osteomyelitis in an immunocompetent patient with no previous hematological or endocrine disorder makes this case an unusual presentation.

  9. Long QTc Syndrome Type 2 Presenting in a Postpartum Patient on Medroxyprogesterone

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    John Kern

    2014-01-01

    Full Text Available Introduction. Congenital long QT syndrome type 2 (LQTS2 is a rare inherited cardiac abnormality resulting in increased risk of polymorphic ventricular tachycardia (PVT. Case Description. A 21-year-old postpartum female presented with syncopal episode after phone alarm. She was noted to have PVT on telemetry monitoring in the emergency department. EKG revealed QTc of 530. The patient’s only medication was medroxyprogesterone. She ultimately received a dual chamber pacemaker with ICD. Discussion. LQTS2 is associated with alarm sounds as a precipitating factor. Postpartum hormonal shifts as well as medroxyprogesterone have significant effect on native QTc duration.

  10. Simultaneous Presentation of Giant Cell Arteritis and Myelodysplastic Syndrome in an Elderly Japanese Man.

    Science.gov (United States)

    Senjo, Hajime; Higuchi, Takakazu; Morimoto, Masaya; Koyamada, Ryosuke; Yanaoka, Chisun; Okada, Sadamu

    2018-05-18

    An 81-year-old Japanese man presented with constitutional symptoms and anemia and was diagnosed with giant cell arteritis (GCA) and myelodysplastic syndrome (MDS) simultaneously. His symptoms and anemia improved promptly with steroids; however, the MDS rapidly progressed to overt leukemia. While MDS patients are at an increased risk of autoimmune diseases, an association with GCA has rarely been reported. This case illustrates the importance of considering GCA as a cause of anemia in elderly patients if MDS is already diagnosed, even in countries where the prevalence of GCA is very low. The simultaneous development of GCA and MDS suggests a common pathogenetic link between these two diseases.

  11. Arterial tortuosity syndrome: An extremely rare disease presenting as a mimic of pulmonary sling

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    Amy Farkas, MD

    2018-02-01

    Full Text Available Pulmonary sling is the anatomic variant defined by the aberrant origin of the left pulmonary artery from the right pulmonary artery. This patient presented with a mimic of pulmonary sling as a result of an extremely rare condition, arterial tortuosity syndrome (ATS. The patient was first diagnosed with pulmonary sling on prenatal echocardiogram performed by cardiology. Computed tomography angiography of the chest obtained at birth to evaluate respiratory depression demonstrated ATS. The early detection of ATS has been demonstrated to improve patient outcome. This case provides an overview of the typical imaging features of ATS to aid radiologists in making this uncommon diagnosis.

  12. Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

    Science.gov (United States)

    Fleck, B J; Pandya, A; Vanner, L; Kerkering, K; Bodurtha, J

    2001-02-15

    To clarify the phenotypic variability of Coffin-Siris syndrome, we present a review of the literature and 18 new cases. We performed a questionnaire study of patients ascertained through an international support group. Information on their sibs was available for comparison. The most frequent findings include some degree of mental retardation or developmental delay, "coarse" facial appearance, feeding difficulties, frequent infections, and hypoplastic to absent fifth fingernails and fifth distal phalanges. We discuss the key manifestations for diagnosis, medical and developmental implications, and possible pathogenesis. Copyright Wiley-Liss. Inc.

  13. Giant Cell Arteritis in a 12-Year-Old Girl Presenting with Nephrotic Syndrome

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    Zeinab A. El-Sayed

    2014-01-01

    Full Text Available Giant cell arteritis (GCA is rare in children. The kidneys are generally spared. We present a case of GCA in a 12-year-old girl with severe headache and tender scalp especially over the right temporal area. The right superficial temporal artery was cord like and nodular and the pulsations were barely felt. Several small tender nodular swellings were felt in the occipital area. She had been previously diagnosed as a case of nephrotic syndrome due to underlying membranoproliferative glomerulonephritis. This report is aimed at drawing attention to this rare form of vasculitis in children aiming at decreasing its morbidities.

  14. Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion

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    Satoshi Funada

    2016-01-01

    Full Text Available Russell-Silver syndrome (RSS is a type of primordial dwarfism. Only one case of testicular cancer in RSS has been reported, the pathology of which was nonseminoma. Here, we report a case of seminoma in a 36-year-old man who was diagnosed with RSS at birth. The seminoma was diagnosed when the patient presented with testicular torsion. This is the first report of testicular seminoma in an RSS patient in the literature. We also discussed the correlation between seminoma and RSS.

  15. Swyer- James -MacLeod syndrome presenting as hemoptysis in an adult

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    Santosh Kumar

    2012-01-01

    Full Text Available Swyer-James/MacLeod syndrome is an uncommon disease with characteristic radiological feature of unilateral hyperlucency due to loss of pulmonary vasculature and air trapping. Typically, this disorder is diagnosed in childhood during evaluations for recurrent respiratory infections. Here, we report a case in a 30-year-old adult female who presented with dyspnoea, cough with expectoration and recurrent hemoptysis due to associated bronchiectasis. This case highlights the importance of computed tomography in the diagnostic workup of recurrent hemoptysis in pulmonary tuberculosis epidemic countries like India

  16. Unusual presentation of idiopathic sweet′s syndrome in a photodistributed pattern

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    Rajesh Verma

    2014-01-01

    Full Text Available A 40-year-old lady presented with history of multiple red raised painful lesions over her body of 10 days duration. Lesions spread from forearms to arms and back of trunk during the progress of the disease. Associated pain and burning sensation in the lesions was present while working in the sun. Mild to moderate grade fever, malaise, pain over large joints, decreased appetite, and redness of eyes was also present. There was no history of drug intake or other risk-factors. Dermatological examination revealed erythematous papules coalescing to form plaques with a pseudovesicular appearance over the extensor aspect of forearms and photo-exposed areas on the back of trunk. There was a sharp cut-off between the lesions and the photo-protected areas. Investigations revealed anemia, neutrophilic leukocytosis, raised erythrocyte sedimentation rate and positive C reactive protein. Skin biopsy showed characteristic features of Sweet′s syndrome. No evidence for any secondary etiology was found. She responded to a tapering course of oral steroids and topical broad spectrum photo-protection. This case is a very rare instance of idiopathic Sweets syndrome occurring in a photo-distributed pattern.

  17. A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

    Science.gov (United States)

    Tzoufi, Meropi; Makis, Alexandros; Chaliasos, Nikolaos; Nakou, Iliada; Siomou, Ekaterini; Tsatsoulis, Agathoklis; Zikou, Anastasia; Argyropoulou, Maria; Bonnefont, Jean Paul; Siamopoulou, Antigone

    2013-04-01

    Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS may affect many organ systems causing endocrinopathies, encephalomyopathy, sensorineural hearing loss, and renal tubulopathy. Clinical presentation at diagnosis is quite heterogeneous and, usually, few organs are affected with progression to generalized disease early in adulthood. We present the case of a boy with KSS presenting at the age of 5 years with myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome. The proper replacement treatment along with the administration of mitochondrial metabolism-improving agents had a brief ameliorating effect, but gradual severe multisystemic deterioration was inevitable over the next 5 years. This report highlights the fact that in case of simultaneous presentation of polyendocrinopathies and renal disease early in childhood, KSS should be considered.

  18. Adult Presentation of Dyke-Davidoff-Masson Syndrome: A Case Report

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    Ujjawal Roy

    2016-01-01

    Full Text Available Dyke-Davidoff-Masson syndrome (DDMS is a rare disease which is clinically characterized by hemiparesis, seizures, facial asymmetry, and mental retardation. The classical radiological findings are cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses. This disease is a rare entity, and it mainly presents in childhood. Adult presentation of DDMS is unusual and has been rarely reported in the medical literature. Key Messages: DDMS is a rare disease of childhood. However, it should be kept in mind as a diagnostic possibility in an adult who presents with a long duration of progressive hemiparesis with seizures and mental retardation. Cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses are diagnostic for this illness on brain imaging.

  19. A delayed presentation of bilateral leg compartment syndrome following non-stop dancing.

    Science.gov (United States)

    Jefferies, James Gordon; Carter, Tom; White, Tim Oliver

    2015-03-18

    We present the case of a young man with a 48 h delayed presentation of bilateral lower limb acute compartment syndrome (ACS) affecting the anterior compartments following an extended period of dancing at a music festival. On making the diagnosis of ACS, the patient was immediately taken to theatre for fasciotomies and compartmental decompression. Repeat look fasciotomies revealed further necrosis to the muscles of the anterior compartments bilaterally and, effectively, all the muscle bellies within the anterior compartments were excised. The patient has been left with a significant functional deficit and disability. This case highlights the importance of timely diagnosis of ACS as delay in presentation can impact significantly on subsequent functional outcome and quality of life. 2015 BMJ Publishing Group Ltd.

  20. Churg-Strauss syndrome presenting with eosinophilic myocarditis: a diagnostic challenge.

    Science.gov (United States)

    Correia, Ana Sofia; Gonçalves, Alexandra; Araújo, Vítor; Almeida e Silva, João; Pereira, José Manuel; Rodrigues Pereira, Pedro; Pizarro, Manuel; Silva, João Carlos; Maciel, Maria Júlia

    2013-09-01

    Churg-Strauss syndrome (CSS) is an unusual disease that presents as systemic vasculitis and peripheral eosinophilia in patients with an atopic constitution. Cardiac involvement is unusual and often not prominent on initial presentation, but is an important cause of morbidity and mortality in patients with CSS. We report the case of a young woman with severe acute myocarditis. Coronary arteriography demonstrated extensive focal vasculopathy, consistent with coronary vasculitis, and myocardial biopsy showed eosinophilic myocarditis. This presentation led to an initial diagnosis of CSS in this patient and appropriate therapy resulted in a spectacular remission of disease activity. Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  1. Toxoplasmosis of spinal cord in acquired immunodeficiency syndrome patient presenting as paraparesis: A rare entity

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    Sachin R Agrawal

    2014-01-01

    Full Text Available Although brain has been the most common site for toxoplasma infection in acquired immunodeficiency syndrome patients, involvement of spinal cord by toxoplasma has been rarely found. Spinal cord toxoplasmosis can present as acute onset weakness in both lower limbs associated with sensory and bladder dysfunction. A presumptive diagnosis can be made in patients with CD4 count <100/mm 3 based on a positive serum Toxoplasma gondii IgG antibodies, no recent prophylaxis against toxoplasmosis, intramedullary ring enhancing lesion in spinal cord supported by similar lesions in brain parenchyma. Institutions of antitoxoplasma treatment in such patients result in prompt clinical response and therefore avoiding the need of unnecessary invasive diagnostic tests. Here, we report a case of toxoplasmic myelitis in immunocompromised patient presenting as myelopathy who showed significant clinical improvement after starting antitoxoplasma treatment. Hence toxoplasmic myelitis should be considered in toxoplasma seropositive immunocompromised patients presenting as myelopathy and imaging studies showing ring enhancing intramedullary lesion.

  2. HaNDL Syndrome Presenting During Pregnancy: A Case Report and Review of the Literature

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    Yüksel Kaplan

    2014-09-01

    Full Text Available Headache associated with neurological deficits and cerebrospinal fluid lymphocytosis (HaNDL is a self-limited syndrome characterized by sudden-onset headache with a temporary neurological deficit and cerebrospinal fluid (CSF lymphocytosis. We aimed to disscus a case of HaNDL syndrome presenting during pregnancy with relevant literature. A 20-year-old female presented with a 5-day history of severe, bilateral throbbing headache accompanied by nausea, vomiting, and phonophobia. Approximately 2 days after the pain developed, she became acutely confused for less than 90 minutes. 2 days after this episode, she experienced again confusional state and left hemiparesis. There were no symptoms consistent with meningoencephalitis. She was pregnant and at 11 weeks gestation. A neurologic examination showed confusional state, bilateral papilledema, and mild left hemiparesis. The neuroradiological examination was normal. The cerebrospinal fluid revealed lymphocytic pleocytosis, mildly elevated protein, and increased opening pressure. She recovered completely after 8 days. The precise etiology of HaNDL is unknown, although an inflammatory or infectious origin and autoimmune factors have been proposed. Moreover, the risk factors and medical conditions associated with HaNDL are unknown. It is obviously difficult to determine whether the pregnancy was coincidental or associated in this case. We believe that comprehensive studies are needed to clarify the risk factors and medical conditions associated with HaNDL

  3. A case of Gorlin-Goltz syndrome presented with psychiatric features.

    Science.gov (United States)

    Mufaddel, Amir; Alsabousi, Mouza; Salih, Badr; Alhassani, Ghanem; Osman, Ossama T

    2014-01-01

    We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indicated pitted keratosis involving hands, callosities, and seborrheic dermatitis. There were numerous palmar pits, and Brain CT Head scan revealed extensive calcification along falx cerebri and around the cerebellar vermis. He had low (20 ng/L) vitamin D level and high parathyroid hormone level. The patient improved using antipsychotic medications and vitamin D supplementations for symptomatic management and was discharged with a plan for multispecialty outpatient follow-up. This case highlights the importance of considering rare organic etiologies in the differential diagnosis of patients presenting with psychiatric symptoms. This is of vital importance for early intervention to prevent complications and for better outcomes of the coexistent diseases.

  4. Late presentation of superior mesenteric artery syndrome following scoliosis surgery: a case report

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    Tsirikos Athanasios I

    2008-01-01

    Full Text Available Abstract Introduction Obstruction of the third part of the duodenum by the superior mesenteric artery (SMA can occur following surgical correction of scoliosis. The condition most commonly occurs in significantly underweight patients with severe deformities during the first few days to a week following spinal surgery. Case presentation We present the atypical case of a patient with normal body habitus and a 50° adolescent idiopathic thoracolumbar scoliosis who underwent anterior spinal arthrodesis with instrumentation and developed SMA syndrome due to progressive weight loss several weeks postoperatively. The condition manifested with recurrent vomiting, abdominal distension, marked dehydration, and severe electrolyte disorder. Prolonged nasogastric decompression and nasojejunal feeding resulted in resolution of the symptoms with no recurrence at follow-up. The spinal instrumentation was retained and a solid spinal fusion was achieved with good spinal balance in both the coronal and sagittal planes. Conclusion SMA syndrome can occur much later than previously reported and with potentially life-threatening symptoms following scoliosis correction. Early recognition of the condition and institution of appropriate conservative measures is critical to prevent the development of severe complications including the risk of death.

  5. A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features

    Directory of Open Access Journals (Sweden)

    Amir Mufaddel

    2014-01-01

    Full Text Available We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indicated pitted keratosis involving hands, callosities, and seborrheic dermatitis. There were numerous palmar pits, and Brain CT Head scan revealed extensive calcification along falx cerebri and around the cerebellar vermis. He had low (20 ng/L vitamin D level and high parathyroid hormone level. The patient improved using antipsychotic medications and vitamin D supplementations for symptomatic management and was discharged with a plan for multispecialty outpatient follow-up. This case highlights the importance of considering rare organic etiologies in the differential diagnosis of patients presenting with psychiatric symptoms. This is of vital importance for early intervention to prevent complications and for better outcomes of the coexistent diseases.

  6. Treatment of Rectal Hemorrhage by Coil Embolization

    International Nuclear Information System (INIS)

    Dobson, Craig Charles; Nicholson, Anthony A.

    1998-01-01

    Four patients, aged 54-84 years, presenting with life-threatening rectal bleeding from the superior hemorrhoidal artery, underwent percutaneous fibered platinum coil embolization via coaxial catheters. Pre-procedure sigmoidoscopy had failed to identify the source of hemorrhage, because the rectum was filled with fresh blood. Embolization was technically and clinically successful in all four patients. Subsequent sigmoidoscopy confirmed the diagnoses in three patients as a solitary rectal ulcer, iatrogenic traumatic ulceration following manual evacuation, and a rectal Dieulafoy's lesion. The other case was angiographically seen to be due to a rectal angiodysplasia. Embolization is an effective procedure in life-threatening superior hemorrhoidal arterial bleeding when endoscopic treatment fails, and should be preferred to rectosigmoid resection

  7. A Prognostic Model for Development of Profound Shock among Children Presenting with Dengue Shock Syndrome.

    Directory of Open Access Journals (Sweden)

    Phung Khanh Lam

    Full Text Available To identify risk factors and develop a prediction model for the development of profound and recurrent shock amongst children presenting with dengue shock syndrome (DSS.We analyzed data from a prospective cohort of children with DSS recruited at the Paediatric Intensive Care Unit of the Hospital for Tropical Disease in Ho Chi Minh City, Vietnam. The primary endpoint was "profound DSS", defined as ≥2 recurrent shock episodes (for subjects presenting in compensated shock, or ≥1 recurrent shock episodes (for subjects presenting initially with decompensated/hypotensive shock, and/or requirement for inotropic support. Recurrent shock was evaluated as a secondary endpoint. Risk factors were pre-defined clinical and laboratory variables collected at the time of presentation with shock. Prognostic model development was based on logistic regression and compared to several alternative approaches.The analysis population included 1207 children of whom 222 (18% progressed to "profound DSS" and 433 (36% had recurrent shock. Independent risk factors for both endpoints included younger age, earlier presentation, higher pulse rate, higher temperature, higher haematocrit and, for females, worse hemodynamic status at presentation. The final prognostic model for "profound DSS" showed acceptable discrimination (AUC=0.69 for internal validation and calibration and is presented as a simple score-chart.Several risk factors for development of profound or recurrent shock among children presenting with DSS were identified. The score-chart derived from the prognostic models should improve triage and management of children presenting with DSS in dengue-endemic areas.

  8. Predicting early transition from sub-syndromal presentations to major mental disorders.

    Science.gov (United States)

    Cross, Shane P M; Scott, Jan; Hickie, Ian B

    2017-09-01

    Transition from at-risk state to full syndromal mental disorders is underexplored for unipolar and bipolar disorders compared with psychosis. Prospective, trans-diagnostic study of rates and predictors of early transition from sub-threshold to full syndromal mental disorder. One-year outcome of 243 consenting youth aged 15-25 years with a sub-syndromal presentation of a potentially severe mental disorder. Survival analysis and odds ratio (OR) for predictors of transition identified from baseline clinical and demographic ratings. About 17% ( n =36) experienced transition to a major mental disorder. Independent of syndromal diagnosis, transition was significantly more likely in individuals who were NEET (not in education, employment or training), in females and in those with more negative psychological symptoms (e.g. social withdrawal). NEET status and negative symptoms are modifiable predictors of illness trajectory across diagnostic categories and are not specific to transition to psychosis. I.B.H. has been a Commissioner in Australia's National Mental Health Commission since 2012. He was a board member of headspace: National Youth Mental Health Foundation until January 2012. He has led a range of community-based and pharmaceutical industry-supported depression awareness and education and training programmes. He has led projects for health professionals and the community supported by governmental, community agency and pharmaceutical industry partners (Wyeth, Eli Lilly, Servier, Pfizer, AstraZeneca) for the identification and management of depression and anxiety. He has received honoraria for presentations of his own work at educational seminars supported by a number of non-government organisations and the pharmaceutical industry (including Servier, Pfizer, AstraZeneca and Eli Lilly). He is a member of the Medical Advisory Panel for Medibank Private and also a board member of Psychosis Australia Trust. He leads an investigator-initiated study of the effects of

  9. Paraneoplastic Cushing Syndrome Due To Wilm's Tumor.

    Science.gov (United States)

    Faizan, Mahwish; Manzoor, Jaida; Saleem, Muhammad; Anwar, Saadia; Mehmood, Qaiser; Hameed, Ambreen; Ali, Agha Shabbir

    2017-05-01

    Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, along with histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed.

  10. Paraneoplastic cushing syndrome due to wilm's tumor

    International Nuclear Information System (INIS)

    Faizan, M.; Anwar, S.; Hameed, A.; Manzoor, J.; Saleem, M.; Mehmood, Q.; Ali, A. S.

    2017-01-01

    Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, alongwith histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed. (author)

  11. Embolism of high energy firearm projectile

    Directory of Open Access Journals (Sweden)

    Jaime Álvarez Soler

    2016-12-01

    Full Text Available The embolism of a projectile is very rare and out of the normal context, so the cor-oner in front of a wound projectile firearm must make a very judicious and careful analysis to recover the projectile and/or its fragments. This case presents evidence how modern military high-velocity weapons have a high kinetic energy which is transferred to body tissues, so including their fragments and parts of the projectile can cause serious injury and embolism, requiring a great effort scientific and in-terdisciplinary to give technical support to justice.

  12. [Clinical presentation of different severities of hemorrhagic fever with renal syndrome: how to recognise it].

    Science.gov (United States)

    Lausević, Mirjana; Lausević, Zeljko; Stojimirović, Biljana

    2012-07-01

    Besides viral serotype, HLA haplotype and cytokine genes polymorphism are associated with clinical presentation of hemorrhagic fever with renal syndrome. Since these analyses are unavailable in routine clinical practice, the aim of this study was to assess clinical, laboratory and radiographic findings associated with clinical presentation of disease severity. A total of 30 patients (27 men and 3 women), average age 40 +/- 14.9 years, treated for hemorrhagic fever with renal syndrome from January 1, 1999 to December 31, 2009 in Clinical Center of Serbia, were included in the study. Nine patients (30%) had mild, 14 (46.7%) moderate and 7 (23.3%) severe form of the disease; 24 (800%) recovered, 6 (20%) died in the acute phase of the illness, and 19 patients (63.3%) required hemodialysis. The average titer of antiviral antibodies in patients infected with Belgrade serotype virus were significantly higher in those with severe clinical presentation. Hypotension, anuria, macrohaematuria, pulmonary infiltration, pleural effusion, hepatomegalia and positive meningeal signs were more frequent in the patients with severe form of the disease. Statistically significant differences between groups with mild, moderate and severe clinical picture were found in serum total protein, albumin, calcium, glutamate pyruvate and glutamate oxaloacetate transaminase on admittance; serum creatinine and phosphorus concentration on day 14 and day 21; serum sodium and calciums on day 14; hemoglobine concentration on day 21. A statistically significant correlation was found between clinical presentation of the disease severity and platelet count, white blood cell count, hemoglobine concentration, serum calcium and serum transaminases on admittance. Multivariate analysis identified variables' combinations associated with clinical presentation of the disease. Our study confirmed that we can distinguish patients who will manifest different severities of the disease on the basis of careful

  13. Clinical presentation of different severities of hemorrhagic fever with renal syndrome: How to recognize it

    Directory of Open Access Journals (Sweden)

    Laušević Mirjana

    2012-01-01

    Full Text Available Background/Aim. Besides viral serotype, HLA haplotype and cytokine genes polymorphism are associated with clinical presentation of hemorrhagic fever with renal syndrome. Since these analyses are unavailable in routine clinical practice, the aim of this study was to assess clinical, laboratory and radiographic findings associated with clinical presentation of disease severity. Methods. A total of 30 patients (27 men and 3 women, average age 40 ± 14.9 years, treated for hemorrhagic fever with renal syndrome from January 1, 1999 to December 31, 2009 in Clinical Center of Serbia, were included in the study. Nine patients (30% had mild, 14 (46.7% moderate and 7 (23.3% severe form of the disease; 24 (80% recovered, 6 (20% died in the acute phase of the illness, and 19 patients (63.3% required hemodialysis. Results. The average titer of antiviral antibodies in patients infected with Belgrade serotype virus were significantly higher in those with severe clinical presentation. Hypotension, anuria, macrohaematuria, pulmonary infiltration, pleural effusion, hepatomegalia and positive meningeal signs were more frequent in the patients with severe form of the disease. Statistically significant differences between groups with mild, moderate and severe clinical picture were found in serum total protein, albumin, calcium, glutamate pyruvate and glutamate oxaloacetate transaminase on admittance; serum creatinine and phosphorus concentration on day 14 and day 21; serum sodium and calciums on day 14; hemoglobine concentration on day 21. A statistically significant correlation was found between clinical presentation of the disease severity and platelet count, white blood cell count, hemoglobine concentration, serum calcium and serum transaminases on admittance. Multivariate analysis identified variables` combinations associated with clinical presentation of the disease. Conclusion. Our study confirmed that we can distinguish patients who will manifest different

  14. An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria

    Directory of Open Access Journals (Sweden)

    Eun Jung Cha

    2016-03-01

    Full Text Available Bartter syndrome (BS I–IV is a rare autosomal recessive disorder affecting salt reabsorption in the thick ascending limb of the loop of Henle. This report highlights clinicopathological findings and genetic studies of classic BS in a 22-year-old female patient who presented with persistent mild proteinuria for 2 years. A renal biopsy demonstrated a mild to moderate increase in the mesangial cells and matrix of most glomeruli, along with marked juxtaglomerular cell hyperplasia. These findings suggested BS associated with mild IgA nephropathy. Focal tubular atrophy, interstitial fibrosis, and lymphocytic infiltration were also observed. A genetic study of the patient and her parents revealed a mutation of the CLCNKB genes. The patient was diagnosed with BS, type III. This case represents an atypical presentation of classic BS in an adult patient. Pathologic findings of renal biopsy combined with genetic analysis and clinicolaboratory findings are important in making an accurate diagnosis.

  15. An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria.

    Science.gov (United States)

    Cha, Eun Jung; Hwang, Won Min; Yun, Sung-Ro; Park, Moon Hyang

    2016-03-01

    Bartter syndrome (BS) I-IV is a rare autosomal recessive disorder affecting salt reabsorption in the thick ascending limb of the loop of Henle. This report highlights clinicopathological findings and genetic studies of classic BS in a 22-year-old female patient who presented with persistent mild proteinuria for 2 years. A renal biopsy demonstrated a mild to moderate increase in the mesangial cells and matrix of most glomeruli, along with marked juxtaglomerular cell hyperplasia. These findings suggested BS associated with mild IgA nephropathy. Focal tubular atrophy, interstitial fibrosis, and lymphocytic infiltration were also observed. A genetic study of the patient and her parents revealed a mutation of the CLCNKB genes. The patient was diagnosed with BS, type III. This case represents an atypical presentation of classic BS in an adult patient. Pathologic findings of renal biopsy combined with genetic analysis and clinicolaboratory findings are important in making an accurate diagnosis.

  16. A Report of Brugada Syndrome Presenting with Cardiac Arrest Triggered by Verapamil Intoxication

    Directory of Open Access Journals (Sweden)

    Kahraman Yakut

    2017-12-01

    Full Text Available Background: Brugada syndrome is a disease characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death. We present this case with the updated literature to emphasise the need to consider the diagnosis of Brugada syndrome in patients admitted to the emergency ward with sudden cardiac arrest. Case Report: A 16-year-old female patient was admitted to the emergency ward with complaints of weakness and abdominal pain, and she had four cardiac arrests during her evaluation period. She was referred to our clinic for permanent pacemaker implantation. She was on a temporary pace maker after having had C-reactive protein. Her physical exam was normal except for bilaterally decreased lung sounds. Lung x-ray and computed tomography, which were performed by another institution, revealed minimal pleural effusion and nothing else of significance. Blood and peritoneal fluid samples were sterile. Echocardiographic exam and cardiac enzymes were also in the normal ranges. Electrocardiographic showed incomplete right branch block in leads V1 and V2. An ajmaline test revealed specific electrocardiographic findings of the type I Brugada pattern. We proposed implanting an implantable cardioverter defibrillator to the patient as there were positive findings on the ajmaline test as well as a history of sudden cardiac arrest. After this treatment proposal, the patient’s family admitted that she had taken a high dose of verapamil and thus, the encountered bradycardia was associated with verapamil overuse. The ajmaline test was repeated as it was contemplated that the previous positive ajmaline test had been associated with verapamil overuse. Implantable cardioverter defibrillator implantation was proposed again as there was a history of sudden cardiac arrest; however, the family did not consent to implantable cardioverter defibrillator, and the patient was discharged and followed up. Conclusion: Brugada syndrome should be

  17. A Report of Brugada Syndrome Presenting with Cardiac Arrest Triggered by Verapamil Intoxication.

    Science.gov (United States)

    Yakut, Kahraman; Erdoğan, İlkay; Varan, Birgül; Atar, İlyas

    2017-12-01

    Brugada syndrome is a disease characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death. We present this case with the updated literature to emphasise the need to consider the diagnosis of Brugada syndrome in patients admitted to the emergency ward with sudden cardiac arrest. A 16-year-old female patient was admitted to the emergency ward with complaints of weakness and abdominal pain, and she had four cardiac arrests during her evaluation period. She was referred to our clinic for permanent pacemaker implantation. She was on a temporary pace maker after having had C-reactive protein. Her physical exam was normal except for bilaterally decreased lung sounds. Lung x-ray and computed tomography, which were performed by another institution, revealed minimal pleural effusion and nothing else of significance. Blood and peritoneal fluid samples were sterile. Echocardiographic exam and cardiac enzymes were also in the normal ranges. Electrocardiographic showed incomplete right branch block in leads V1 and V2. An ajmaline test revealed specific electrocardiographic findings of the type I Brugada pattern. We proposed implanting an implantable cardioverter defibrillator to the patient as there were positive findings on the ajmaline test as well as a history of sudden cardiac arrest. After this treatment proposal, the patient's family admitted that she had taken a high dose of verapamil and thus, the encountered bradycardia was associated with verapamil overuse. The ajmaline test was repeated as it was contemplated that the previous positive ajmaline test had been associated with verapamil overuse. Implantable cardioverter defibrillator implantation was proposed again as there was a history of sudden cardiac arrest; however, the family did not consent to implantable cardioverter defibrillator, and the patient was discharged and followed up. Brugada syndrome should be considered for patients who are admitted to the emergency ward

  18. Current Genetic and Demographic Findings in Down's Syndrome: How Are They Presented in College Textbooks on Exceptionality?

    Science.gov (United States)

    Abroms, Kippy I.; Bennett, J. W.

    1980-01-01

    A survey of 39 recent college textbooks in mental retardation, special education, and abnormal psychology indicates that dated and oversimplified models of the etiology of Down's syndrome are being presented.

  19. Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about

    Directory of Open Access Journals (Sweden)

    Amel Karaa

    2013-01-01

    Full Text Available The Ehlers Danlos syndromes (EDS comprise a group of connective tissue disorders characterized by tissue fragility of the skin, ligaments, blood vessels and internal organs. Variable degrees of clinical severity and organ involvement are due to the molecular and biochemical heterogeneity of this group of disorders and have led to classification into well-characterized subtypes that are extending with the discovery of new genes and overlapping syndrome. Types include classical EDS (EDS I/II, hypermobility EDS (EDS III, vascular EDS (EDS IV, kyphoscoliosis EDS (EDS VI, arthrochalasia (EDS VIIA, B and Dermatospraxis (EDS VIIC. Even to the well trained professional, the diagnosis of EDS remains a challenge due to overlapping symptoms and cases can remain without a well-defined classification. Life altering complications of this group of disorders include vascular and hollow organ rupture and ligamentous laxity leading to chronic dislocation with ensuing pain and long term disability. Patients initially present to the general practitioner who is expected to recognize the symptoms of EDS and to proceed with appropriate referral for definitive diagnosis and management to prevent devastating complications. In this paper, we describe a male with classical EDS complicated by devastating vascular and orthopedic events.

  20. Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient.

    LENUS (Irish Health Repository)

    McKenna, G J

    2009-11-01

    BACKGROUND: Lacrimo-auriculo-dento-digital (LADD) syndrome (OMIM #149730) is an autosomal-dominant congenital disorder that can be caused by heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 (FGFR2) and 3 (FGFR3), and has been found in association with a mutation in the FGF10 gene, which encodes an Fgfr ligand. Clinical signs vary, but the condition is characterised by involvement of the lacrimal and salivary systems, cup-shaped ears, hearing loss and dental abnormalities. Additional features may include involvement of the hands and feet with other body systems particularly the kidneys. CASE REPORT: Previous literature on the subject has been reviewed and this case is the first presentation of LADD syndrome in the Republic of Ireland, as a sporadic case in a 12-year-old girl who exhibited a range of dental and digital anomalies. TREATMENT: Her general medical practitioner managed her medical care whilst her oral care necessitated a multidisciplinary approach involving restorative and orthodontic elements. FOLLOW-UP: The initial restorative phase of treatment has successfully improved the appearance of the patient\\'s anterior teeth using direct resin composite build-ups.

  1. Loyes-Dietz syndrome presenting with severe aortic insufficiency – case report

    International Nuclear Information System (INIS)

    Kunovsky, P.; Dinka, R.; Krissakova, A.; Culen, M.; Nosal, M.; Kovacik, J.; Ilencikova, D.; Outrata, R.

    2013-01-01

    Severe aortic insufficiency (AI) in childhood is very rare cause of heart failure. Mostly is associated with connective tissue disorders as Marfan syndrome (MFS) or recently described Loyes-Dietz syndrome (LDS) (1). Authors present a case report of 9 years old girl with severe AI caused by aneurysm of aortic root. Typical findings associated with LDS are wide spread aneurysms of aorta, hypertelorism, cleft palate or split uvula (bifida uvula) and generalized arterial tortuosity. LDS is an autosomal dominant genetic disorder of the connective tissue; caused by mutation in the genes encoding the transforming growth factor beta receptor 1 and 2 (TGFBR1 and TGFRB2). Afflicted patients demonstrate different involvement of cardiovascular, musculoskeletal and central nervous system. From prognostic point of view the most consequential is widespread involvement of arterial system, when in addition to ascending aorta other parts of aorta and their branches might be also afflicted. Life threatening dissection and ruptures can occur earlier and at less dilated aneurysms than in MFS, requiring more aggressive diagnostic and therapeutic management with timely surgical intervention. Incidence of LDS is less frequent than serious congenital heart defects but due to its catastrophic potential even in early childhood as well as possible preventive intervention the importance of early diagnosis and treatment should be emphasized. (author)

  2. The dark side of the QT interval. The Short QT Syndrome: pathophysiology, clinical presentation and management

    Directory of Open Access Journals (Sweden)

    I. Comelli

    2012-12-01

    Full Text Available A large number of studies has been carried out to investigate the pathophysiology and the clinical implications of QT interval prolongation in the ECG over recent years (1, 2, 3, 4, 5, 6. It was only in the last decade, however, that the scientists have focused on the specular aspects of the long QT syndrome (LQTS, and it is now well established that the abnormal shortening of the QT interval is associated with meaningful clinical consequences and adverse outcomes. The aim of the present article is to summarize knowledge and existing evidence about the Short QT Syndrome (SQTS. SQTS is a rare, albeit largely underdiagnosed, genetically determined disease, which is characterized by a high tendency to develop life-threatening arrhythmias. The two clinical landmarks of SQTS are the presence of a short QT interval (i.e., less than 320 ms in a structurally normal heart. The disease is now classified as a “channellopathy”, and is principally caused by a defective functioning of both potassium and calcium ion channels. The underlying genetic anomalies cause an abnormal ripolarization and a reduced refractoriness of myocardiocites. Pharmacologic treatments are mainly tailored to slow the conduction and to prolong the refractory period of myocardiocites. The implantable cardioverter and defibrillator (ICD is currently considered the therapeutic gold standard (7.

  3. Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation.

    Science.gov (United States)

    Frković, Sanda Huljev; Durisević, Ivana Tonković; Trcić, Ruzica Lasan; Sarnavka, Vladimir; Gornik, Kristina Crkvenac; Muzinić, Dubravka; Letica, Ljiljana; Barić, Ivo; Begović, Davor

    2010-03-01

    Pallister Killian syndrome (PKS) is a rare genetic disorder caused by tetrasomy of the short arm of chromosome 12, revealed usually in mosaic distribution of an extra i (12) (p10) chromosome in fibroblasts. The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures and progressive psychomotor developmental delay. It was first described independently by Pallister in 1977 and by Killian and Teschler-Nikola in 1981. We report a case of 21 month old girl with PKS and significant overgrowth. Cytogenetic analysis was performed using the GTG banding technique. The karyotype of cultured lymphocytes was normal. The karyotype from skin fibroblasts was established as mosaic tetrasomy of 12p 47,XX,+i (12) (p10)/46,XX. The origin of the extra marker chromosome was determinated by fluorescence in situ hybridization with chromosome 12 specific DNA probes confirming that supernumerary marker is chromosome i (12p) in 68% of cells. Despite the excessive postnatal growth we found low serum growth hormone levels and reduced response to pharmacological stimulation test. This is also the first report of a postnatal patient in our country.

  4. [A case of migraine presenting with thunderclap headache associated with posterior reversible encephalopathy syndrome].

    Science.gov (United States)

    Katoh, Hirotaka; Saito, Yu; Ohwan, Yoshiyuki; Kasai, Hideyo; Fujita, Kazuhisa; Kawamura, Mitsuru

    2014-10-01

    We report a 47-year-old woman who developed a thunderclap headache. Head axial, fluid-attenuated inversion recovery magnetic resonance imaging (FLAIR MRI) revealed high signal lesions in the left occipital and right parietal lobes. Apparent diffusion coefficient mapping showed a vasogenic edema pattern. Upon admission, the patient's blood pressure was normal and the neurological examination was unremarkable. As thunderclap headaches are associated with a repeated rise in blood pressure, we considered cerebral vasoconstriction and administered a calcium channel blocker. Thereafter, her headache with high blood pressure eased significantly and the high signal lesions on FLAIR MRI disappeared. We diagnosed the condition as posterior reversible encephalopathy syndrome (PRES). In addition, head magnetic resonance angiogram showed vasoconstriction of the right anterior cerebral artery, left middle cerebral artery, and bilateral posterior cerebral artery. Calcium channel blocker use was continued and vasoconstriction improved by day 70. In this case, the presenting symptom was thunderclap headache, which is a characteristic feature of reversible cerebral vasoconstriction syndrome (RCVS). Therefore, PRES may be caused by RCVS.

  5. Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient.

    Science.gov (United States)

    McKenna, G J; Burke, F M; Mellan, K

    2009-11-01

    Lacrimo-auriculo-dento-digital (LADD) syndrome (OMIM #149730) is an autosomal-dominant congenital disorder that can be caused by heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 (FGFR2) and 3 (FGFR3), and has been found in association with a mutation in the FGF10 gene, which encodes an Fgfr ligand. Clinical signs vary, but the condition is characterised by involvement of the lacrimal and salivary systems, cup-shaped ears, hearing loss and dental abnormalities. Additional features may include involvement of the hands and feet with other body systems particularly the kidneys. Previous literature on the subject has been reviewed and this case is the first presentation of LADD syndrome in the Republic of Ireland, as a sporadic case in a 12-year-old girl who exhibited a range of dental and digital anomalies. Her general medical practitioner managed her medical care whilst her oral care necessitated a multidisciplinary approach involving restorative and orthodontic elements. The initial restorative phase of treatment has successfully improved the appearance of the patient's anterior teeth using direct resin composite build-ups.

  6. Chest computed tomography of a patient revealing severe hypoxia due to amniotic fluid embolism: a case report

    Directory of Open Access Journals (Sweden)

    Inui Daisuke

    2010-02-01

    Full Text Available Abstract Introduction Amniotic fluid embolism is one of the most severe complications in the peripartum period. Because its onset is abrupt and fulminant, it is unlikely that there will be time to examine the condition using thoracic computed tomography (CT. We report a case of life-threatening amniotic fluid embolism, where chest CT in the acute phase was obtained. Case presentation A 22-year-old Asian Japanese primiparous woman was suspected of having an amniotic fluid embolism. After a Cesarean section for cephalopelvic disproportion, her respiratory condition deteriorated. Her chest CT images were examined. CT findings revealed diffuse homogeneous ground-glass shadow in her bilateral peripheral lung fields. She was therefore transferred to our hospital. On admission to our hospital's intensive care unit, she was found to have severe hypoxemia, with SpO2 of 50% with a reservoir mask of 15 L/min oxygen. She was intubated with the support of noninvasive positive pressure ventilation. She was successfully extubated on the sixth day, and discharged from the hospital on the twentieth day. Conclusion This is the first case report describing amniotic fluid embolism in which CT revealed an acute respiratory distress syndrome-like shadow.

  7. Treatment of unresectable primary and metastatic liver cancer with yttrium-90 microspheres (TheraSphere): assessment of hepatic arterial embolization.

    Science.gov (United States)

    Sato, Kent; Lewandowski, Robert J; Bui, James T; Omary, Reed; Hunter, Russell D; Kulik, Laura; Mulcahy, Mary; Liu, David; Chrisman, Howard; Resnick, Scott; Nemcek, Albert A; Vogelzang, Robert; Salem, Riad

    2006-01-01

    In Canada and Europe, yttrium-90 microspheres (TheraSphere); MDS Nordion, Ottawa, Canada) are a primary treatment option for primary and secondary hepatic malignancies. We present data from 30 patients with hepatocellular carcinoma (HCC) and metastatic liver disease treated with TheraSphere from a single academic institution to evaluate the angiographically evident embolization that follows treatment. Seven interventional radiologists from one treatment center compared pretreatment and posttreatment angiograms. The reviewers were blinded to the timing of the studies. The incidence of postembolization syndrome (PES) was determined as well as objective tumor response rates by the World Health Organization (WHO), Response Evaluation Criteria in Solid Tumors (RECIST), and European Association for the Study of the Liver (EASL) criteria. There were 420 independent angiographic observations that were assessed using the chi-squared statistic. The pretreatment and posttreatment angiograms could not be correctly identified on average more than 43% of the time (p = 0.0004). The postprocedure arterial patency rate was 100%. The objective tumor response rates for all patients were 24%, 31%, and 72% for WHO, RECIST, and EASL criteria, respectively. All of the patients tolerated the procedure without complications and were treated on an outpatient basis, and four patients had evidence of PES. This treatment method does not result in macroscopic embolization of the hepatic arteries, thereby maintaining hepatic tissue perfusion. These data support the principle that the favorable response rates reported with TheraSphere are likely due to radiation and microscopic embolization rather than flow-related macroscopic embolization and ischemia.

  8. Uterine fibroid embolization

    International Nuclear Information System (INIS)

    Totev, M.

    2013-01-01

    Full text: Introduction: Today, after numerous lengthy randomized trials embolization of uterine fibroids has become a standard treatment. Percutaneous embolization of myomas is a micro - invasive surgery, which can be regarded as an alternative to traditional surgery. Although these data 2/3 of the patients were not informed about this treatment option. What you will learn: The uterine embolization is minimal invasive non-surgical procedure. It is an alternative treatment to surgery. Under local anesthesia in the femoral artery puncture reaches the internal iliac artery and uterine arteries. Reached selectively by the catheter and chemicals, which causes clogging, are injected into them. In the vessels that feed fibroids occur a process like an attack, the feeding stops, it starts to shrink and it is replaced by fibrous tissue. The blood vessels of the healthy tissue are different in size and have a plurality of collateral connections as opposed to those of the myoma and thus the blood supply to the normal tissue of the uterus is not distorted. Discussion: Nowadays there are more well- calibrated materials for embolization and those with a particle size of about 700µ are proven as the most successful. The procedure is well tolerated, but after a pain occurs, which has to be covered with anesthetics. Usually pain and metrorrhagia disappear immediately. The fibroids themselves shrink to varying degrees. Hospital stay was significantly shorter than that after surgery, and remained fertile power. Complications are few and rare require further treatment. Multiple nodes are problematic and it is difficult to detect the primary one. A three and six months tracking by MRI is desirable. Conclusion: Embolization of uterine myoma is an established method of treatment primarily on clinical symptoms resulting therefrom. In all patients rapidly disappear metrorrhagia symptoms and morbidity, the volume of the assembly decrease, which together with shorter hospital stays and

  9. An unusual presentation of pediatric osteoblastoma in a patient with Klippel-Trenaunay-Weber syndrome: case report.

    Science.gov (United States)

    Wallace, Scott A; Ignacio, Romeo C; Klugh, Arnett; Gates, Gregory; Henry, Marion C W

    2015-06-01

    Osteoblastoma is an uncommon primary bone tumor that usually presents as a painful lesion in a long bone or in the spine. Osteoblastoma has been reported only twice in the literature in conjunction with systemic fibromatosis. The authors report the case of an 8-year-old girl with suspected Klippel-Trenaunay-Weber syndrome, a rare syndrome of systemic fibromatosis, who presented with a painless thoracic rib lesion that was found to be an osteoblastoma.

  10. Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy

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    Shi-Bing Wang

    2008-08-01

    Full Text Available Mutation of mitochondrial DNA (mtDNA G13513A, encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS and Leigh syndrome. Wolff-Parkinson-White (WPW syndrome and optic atrophy were reported in a high proportion of patients with this mutation. We report an 18-month-old girl, with an 11-month history of psychomotor regression who was diagnosed with WPW syndrome and hypertrophic cardiomyopathy, in association with Leigh syndrome. Supplementation with coenzyme Q10, thiamine and carnitine prevented further regression in gross motor function but the patient's heart function deteriorated and dilated cardiomyopathy developed 11 months later. She was found to have a mutation of mtDNA G13513A. We suggest that mtDNA G13513A mutation is an important factor in patients with Leigh syndrome associated with WPW syndrome and/or optic atrophy, and serial heart function monitoring by echocardiography is recommended in this group of patients.

  11. Pituitary stalk interruption syndrome presenting as short stature: a case report.

    Science.gov (United States)

    Ram, Nanik; Ali, Syed Ahsan; Hussain, Syed Zubair

    2014-12-19

    Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary that is responsible for anterior pituitary deficiency. It is characterized by a classic triad of interrupted pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia. Clinical presentation varies according to age. In adults it presents as short stature and anterior pituitary deficiency. Without early diagnosis and treatment, mortality and morbidity in these patients is high. Early diagnosis and treatment of this rare disease can prevent permanent short statue of the patient. We report the first case of pituitary stalk interruption syndrome from Pakistan. A 17-year-old Pakistani young man presented with short stature and underdeveloped secondary sexual characters. His siblings and parents were healthy, with normal height. An examination showed his blood pressure was 90/60 mmHg, and his height, weight, and body mass index were 142 cm, 34.5 kg, and 17.10 kg/m2, respectively. He had no hair growth on his face, axilla, or pubis. His testes were between 1 and 2 mL in size, with a 4 cm-at-stretch micropenis. His lab investigations showed that his thyroid stimulating hormone (TSH) was 8.58 uIU/mL (0.4 to 4.2), his free thyroid hormone level FT4 was 0.46 ng/dL (0.89 to 1.76), his prolactin was 21.1 ng/mL (3.0 to 14.7), and his baseline cortisol was 0.30 ug/dL (4.3 to 22.4). His cortisol level after 60 minutes of cosyntropin injection was 3.5 ug/dL (4.3 to 22.4), his insulin like growth factor IGF-1 was 31.56 ng/mL (247.3 to 481.7), his testosterone level was under 2.5 ng/dL (2 to 800), his follicle stimulating hormone FSH was 0.41 uIU/mL (0.0 to 10.0), and his leutinizing hormone LH was under 0.1 uIU/mL (1.2 to 7.8). His bone age was 10 years according to the Greulich and Pyle method, as shown by X-rays. The results from his pituitary magnetic resonance imaging scan were consistent with pituitary stalk interruption syndrome. We describe a young

  12. Fatal rebleeding following coil embolization of cerebral aneurysms: the role of long-term systemic anticoagulation

    International Nuclear Information System (INIS)

    Sinson, G.; Bagley, L.J.; Hurst, R.W.; Flamm, E.S.

    2001-01-01

    Embolization of cerebral aneurysms has become a common technique. Its impact on subsequent medical management of the patient is not well known. We report two patients who presented in a poor neurological grade after subarachnoid hemorrhage from posterior communicating artery aneurysms. Both were treated by coil embolization and both developed subclavian vein thrombosis, requiring systemic anticoagulation, initiated 11 and 21 days after embolization, respectively. Both developed a large, fatal intracranial hemorrhage adjacent to the embolized aneurysm in the fourth week of anticoagulation. Systemic anticoagulation of patients who have had a ruptured aneurysm treated by coil embolization may carry a significant risk of rebleeding. Alternate management strategies should be considered in these patients. (orig.)

  13. Fatal rebleeding following coil embolization of cerebral aneurysms: the role of long-term systemic anticoagulation

    Energy Technology Data Exchange (ETDEWEB)

    Sinson, G. [Dept. of Neurosurgery, University of Pennsylvania School of Medicine, Philadelphia, PA (United States); Bagley, L.J.; Hurst, R.W. [Dept. of Radiology-Neuroradiology, University of Pennsylvania School of Medicine, Philadelphia, PA (United States); Flamm, E.S. [Hyman-Newman Institute for Neurology and Neurosurgery, New York, NY (United States)

    2001-05-01

    Embolization of cerebral aneurysms has become a common technique. Its impact on subsequent medical management of the patient is not well known. We report two patients who presented in a poor neurological grade after subarachnoid hemorrhage from posterior communicating artery aneurysms. Both were treated by coil embolization and both developed subclavian vein thrombosis, requiring systemic anticoagulation, initiated 11 and 21 days after embolization, respectively. Both developed a large, fatal intracranial hemorrhage adjacent to the embolized aneurysm in the fourth week of anticoagulation. Systemic anticoagulation of patients who have had a ruptured aneurysm treated by coil embolization may carry a significant risk of rebleeding. Alternate management strategies should be considered in these patients. (orig.)

  14. Paradoxical embolism: Experiences from a single center

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    Hong-Liang Zhang

    2017-06-01

    Full Text Available Objective: To present our treatment experiences and the follow-up data of patients with paradoxical embolism (PDE. Methods: The clinical characteristics, management, and follow-up data of all included patients who were diagnosed with PDE at Fuwai Hospital from January 1994 to October 2015 were recorded. Results: Twelve patients were included; all had a pulmonary embolism, and 8 had deep venous thrombosis. The artery embolisms involved the cerebral artery (7 patients, renal artery (2 patients, mesentery artery (2 patients, popliteal artery (1 patient, descending aorta thrombus (1 patient, and thrombus-straddled patent foramen ovale (PFO (1 patient. PFO was found in 3 cases. One patient underwent thrombectomy and PFO closure; Six patients received thrombolysis; and 3 patients were implanted with a vena cava filter. Long-term anticoagulation with warfarin was recommended for each patient. One patient died from ventricular fibrillation despite cardiopulmonary resuscitation. Eleven patients were discharged with improvements. No late mortality occurred in 8 patients with a complete follow-up of 10.6–17.7 years. One had a recurrent deep venous thrombosis. No patient had a recurrent pulmonary or arterial embolism. Two patients changed their treatment from warfarin to aspirin; others remained on warfarin. Only 1 case had an occasional gum bleeding. Conclusions: PDE treatment including thrombolysis, anticoagulation, and embolectomy should be individualized. We recommend long-term anticoagulation therapy to prevent the recurrence of PDE, especially to those with an intracardiac communication or persistent risk factors for re-thrombosis. Keywords: Paradoxical embolism, Pulmonary embolism, Deep venous thrombosis, Patent foramen ovale

  15. T1-nerve root neuroma presenting with apical mass and Horner's syndrome

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    Podnar Simon

    2007-03-01

    Full Text Available Abstract Background The appearance of dumbbell neuroma of the first thoracic root is extremely rare. The extradural component of a T1-dumbbell neuroma may present as an apical mass. The diagnosis of hand weakness is complex and may be delayed in T1-neuroma because of absence of the palpable cervical mass. One-stage removal of a T1-root neuroma and its intrathoracic extension demanded an extended posterior midline approach in the sitting position. Case presentation A 51-year old man had suffered a traumatic partial tendon rupture of his wrist flexor muscles 6 years ago. Since the incident he occasionally felt fullness and tenderness in the affected forearm with some tingling in his fingers bilaterally. During the last two years the hand weakness was continuous and hypotrophy of the medial flexor and intrinsic hand muscles had become apparent. Electrophysiological studies revealed an ulnar neuropathy in addition to mild median and radial nerve dysfunction, including a mild contralateral carpal tunnel syndrome. The diagnostic work-up for multiple mononeuropathy in the upper extremity was negative. Repeated electrophysiological studies revealed fibrillations in the C7 paravertebral muscles on the affected side. Chest x-ray revealed a large round apical mass on the affected side. A Horner's syndrome was noted at this point of diagnostic work-up. MRI of the cervical and thoracic spine revealed a dumbbell T1 neuroma enlarging the intervertebral foramen at T1-2 and a 5 cm large extradural tumor with extension into the apex of the ipsilateral lung. The patient underwent surgery in sitting position using a left dorsal midline approach. Although the T1 root could not be preserved, the patient's neurological condition was unchanged after the surgery. Conclusion Extended posterior midline exposure described here using hemilaminectomy, unilateral facetectomy and costo-transversectomy is efficient and safe for one-stage removal of dumbbell tumors at the T1

  16. Two different embolic agents in the treatment of uterine arterial embolization for symptomatic fibroids

    International Nuclear Information System (INIS)

    Shi Hongjian; Huang Youhua; Xu Qiang; Shen Tao; Chen Jing; Wu Xiaosong; Jiang Lei; Dong Weihua

    2008-01-01

    Objective: To compare the efficacy and safety of dextran microspheres and polyvinyl alcohol particles in the uterine arterial embolization (UAE)for symptomatic uterine leiomyomata. Methods: Forty women (mean aged 38.5 years, ranged 28-44 years)with symptomatic myomas were randomly divided into two groups with 20 patients in each, PVA (polyvinyl alcohol particles, 355-500 μm)was used as embolic agents in group A and dextran microspheres(Sephadex G-50, 100-300 μm)in group B. The mean diameter of fibroids was 6.5 cm (range, 3-12 cm)with symptoms of menorrahgia, bulk-related symptoms, dysmenorrhea and infertility. Analgesics, anti-infection and rehydration treatments were used after the procedure. The hospital stay, post-embolization syndromes, follow-up materials were reviewed and compared. Results: The hospital stay and the post embolization pain showed no obvious difference between the two groups, simultaneously with no serious complications. The average follow-up duration was 9 months (range, 6-24 months). The average volumes of uterus and fibroid in group A and B decreased gradually during follow-up: 53.4%, 55% and 48.6%, 40.9%, respectively. Conclusion: Dextran microspheres is as the same effective and safe as PVA particles for UAE, but rather cheaper than latter. Further prospective study is warranted. (authors)

  17. Presentations

    International Nuclear Information System (INIS)

    2007-01-01

    The presented materials consist of presentations of international workshop which held in Warsaw from 4 to 5 October 2007. Main subject of the meeting was progress in manufacturing as well as research program development for neutron detector which is planned to be placed at GANIL laboratory and will be used in nuclear spectroscopy research

  18. Severe dysphagia as the presenting symptom of Wernicke-Korsakoff syndrome in a non-alcoholic man.

    Science.gov (United States)

    Karaiskos, Ilias; Katsarolis, Ioannis; Stefanis, Leonidas

    2008-02-01

    We present the case of a non-alcoholic man, who, following severe malnutrition, presented with dysphagia that necessitated gastrostomy tube placement. The patient subsequently developed encephalopathy, at which point thiamine deficiency was suspected and thiamine supplementation initiated. The encephalopathy and the dysphagia resolved, but the patient was left with a dense amnestic deficit consistent with Korsakoff syndrome. MRI at the time of the encephalopathy revealed lesions consistent with Wernicke-Korsakoff syndrome. This case represents a remarkable example of Wernicke-Korsakoff syndrome that for a prolonged time period had as its sole manifestation severe dysphagia. To our knowledge, there is only one similar case reported in the literature. This case serves to alert neurologists that isolated dysphagia may be the presenting symptom of this classic neurological syndrome even in the absence of alcoholism.

  19. 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

  20. Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem

    Directory of Open Access Journals (Sweden)

    Majid Malaki

    2012-01-01

    Full Text Available An 8-month-old girl with a history of asphyxia and respiratory distress immediately after birth was hospitalized at her fourth month of age with the diagnosis of kidney infection and it was revealed that she had a unilateral multicystic dysplastic kidney. In recent admission, she presented to emergency room with fever, hyperpnea, and apnea. In appearance, she was a hypotonic girl with broad forehead, hypertelorism, depressed nasal bridge and bitemporal regions, rapid vertical and horizontal nystagmus, and open mouth with salivation. In spite of normal physical growth, she had delayed developmental milestones. Blood gas O 2 saturation dropped after she received phenobarbital. Her urinary and blood tests were normal; however, her cranial magnetic resonance imaging (MRI revealed vermis agenesis and molar tooth sign. These physical and para-clinical findings suggested Joubert syndrome.

  1. Unusual presentation of Kallmannn syndrome with contiguous gene deletion in three siblings of a family

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    Sri Venkat Madhu

    2012-01-01

    Full Text Available We report the case of 3 brothers aged 34, 24, and 22 years, unmarried, who presented to our endocrinology clinic with absence of secondary sexual characters. There was no such history in other siblings, but their maternal uncle had similar complaints. On examination, all 3 had pre-pubertal appearance, voice, and genitalia along with anosmia and bimanual synkinesia. Cryptorchidism was noticed in 2 while third person had small hypoplastic testes. It was also noted that all 3 patients had icthyosis mainly involving trunk, back, and limbs. The hormonal assays were consistent with isolated hypogonadotrophic hypogonadism. IQ testing revealed mental retardation in the 2 patients. Ultrasound showed ectopic right kidney in one patient, atrophic right kidney in the second patient while the third patient had normal kidneys. MRI brain of all the patients showed poorly visualized olfactory tract and bulb. Kallmann syndrome (KS was diagnosed based on hormonal evaluation and MRI results. Of the four types of KS: Synkinesia, renal anomaly, and X-linked pedigree pattern in our patients pointed towards X-linked type 1 KS as the possible cause. But, icthyosis and mental retardation are not usual presentation of type 1 KS. They are usually seen as a result of contiguous gene deletion of KAL1, steroid sulfatase (STS, and mental retardation (MRX gene on X chromosome. Hence, the possible gene defect in our cases is inherited defect in contiguous gene deletion. The contiguous gene deletion as the cause of KS in 3 patients of same family is very rare and worth reporting. Also, the significance of phenotype-genotypic association in Kallmann syndrome is discussed

  2. SPECT with 123I - iodolisuride in patients presenting a extra-pyramidal syndrome

    International Nuclear Information System (INIS)

    Ribeiro, M.J.; Baulieu, J.L.; Prunier-Levilion, C.; Januario, C.; Chossat, F.; Autret, A.; Guiloteau, D.; Bekhechi, D.; Pedroso de Lima, J.J.; Besnard, J.C.

    1997-01-01

    The SPECT with 123 I - iodolisuride has been effectuated in two centers (Coimbra and Tours) using cameras of different types in 28 patients presenting a Parkinson's disease (group 1) and 17 patients presenting an extra-pyramidal syndrome by striatal affliction (group 2), equally shared out between the two centers. The scintigraphy acquisition started 1 hour after a slow i.v. injection of labelled iodolisuride (0.02 to 0.07 ng/Kg of weight) with an activity 1.7 to 2.8 MBq of iodine 123. No undesirable effect was detected. The images observed on the sections crossing the central gray nuclei (CGN) were classified into 3 types defined according to visualisation of the CGN and/or the hemispheric cortex: type 1 - visible CGN and cortex un-visible; type 2 - visible CGN and cortex visible; type 3 - CGN and cortex visible. The associations expected were: group 1 - type 1 or 3; group 2 - type 2 or 3. In each center, independently of the utilized gamma camera, the obtained scintigraphic images were of high quality and interpretable. In the group 1, 28/29 scintigraphic images were classified as type 1 or 3 and 1/29 image was classified as type 2 while in the group 2, 14/17 images were classified as type 2 or 3 and 3/17 images as type 1. Consequently, this study concluded that the SPECT with 123 I - iodolisuride is achievable with any conventional tomographic camera and permits the classification of the extra-pyramidal syndromes as a function of striatal dopaminergic receptor waiting

  3. Two Obese Patients with Presumptive Diagnosis of Anaphylactoid Syndrome of Pregnancy Presenting at a Community Hospital.

    Science.gov (United States)

    Kradel, Brian K; Hinson, Scarlett B; Smith, Carr J

    2016-07-01

    Anaphylactoid syndrome of pregnancy (ASP) is a rare but extremely serious complication, with an estimated incidence in North America of 1 in 15 200 deliveries. Despite its rarity, ASP is responsible for approximately 10% of all childbirth-associated deaths in the United States. At present, there is no validated biomarker or specific set of risk factors sufficiently predictive of ASP risk to incorporate into clinical practice. Toward the goal of developing a methodology predictive of an impending ASP event for use by obstetricians, anesthesiologists, and other practitioners participating in infant deliveries, physicians encountering an ASP event have been encouraged to report the occurrence of a case and its biologically plausible risk factors. Herein, we report on 2 patients who presented with a presumptive diagnosis of ASP to the delivery unit of a community hospital. Patient One was a 21-year-old, obese (5'11" tall, 250 lbs., BMI 34.9) white female, 1 pregnancy, no live births (G1P0), estimated gestational age (EGA) 40.2 weeks. Patient Two was a 29-year-old, obese (5'7" tall, 307 lbs., BMI 48.1) Hispanic female, second pregnancy, with 1 previous live birth via C-section (G2P1-0-0-1). Her pregnancy was at gestational age 38 weeks plus 2 days. Patient One had 2 possible risk factors: administration of Pitocin to induce labor and post-coital spotting from recent intercourse. Patient Two suffered premature rupture of the placental membranes. Both Patient One and Patient Two had very high body mass indices (BMIs), at the 97th and 99th percentiles, respectively. In the relatively few cases of anaphylactoid syndrome of pregnancy described to date, this is the first report of a possible association with high BMI.

  4. Greater saphenous vein anomaly and aneurysm with subsequent pulmonary embolism

    OpenAIRE

    Ma, Truong; Kornbau, Craig

    2017-01-01

    Abstract Venous aneurysms often present as painful masses. They can present either in the deep or superficial venous system. Deep venous system aneurysms have a greater risk of thromboembolism. Though rare, there have been case reports of superficial aneurysms and thrombus causing significant morbidity such as pulmonary embolism. We present a case of an anomalous greater saphenous vein connection with an aneurysm and thrombus resulting in a pulmonary embolism. This is the only reported case o...

  5. Rapid Presentation of Emotional Expressions Reveals New Emotional Impairments in Tourette’s Syndrome

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    Martial eMermillod

    2013-04-01

    Full Text Available Objective:Based on a variety of empirical evidence obtained within the theoretical framework of embodiment theory, we considered it likely that motor disorders in Tourette’s syndrome (TS would have emotional consequences for TS patients. However, previous research using emotional facial categorization tasks suggests that these consequences are limited to TS patients with obsessive-compulsive behaviors(OCB.Method:These studies used long stimulus presentations which allowed the participants to categorize the different emotional facial expressions (EFEs on the basis of a perceptual analysis that might potentially hide a lack of emotional feeling for certain emotions. In order to reduce this perceptual bias, we used a rapid visual presentation procedure.Results:Using this new experimental method, we revealed different and surprising impairments on several EFEs in TS patients compared to matched healthy control participants. Moreover, a spatial frequency analysis of the visual signal processed by the patients suggests that these impairments may be located at a cortical level.Conclusions:The current study indicates that the rapid visual presentation paradigm makes it possible to identify various potential emotional disorders that were not revealed by the standard visual presentation procedures previously reported in the literature. Moreover, the spatial frequency analysis performed in our study suggests that emotional deficit in TS might lie at the level of temporal cortical areas dedicated to the processing of HSF visual information.

  6. A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

    Science.gov (United States)

    Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco

    2018-01-01

    The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed. Here we describe a family with 2 affected members, a 23-year-old proposita and her 51-year-old mother, who presented subtle cutaneous signs, including a variable degree of skin hyperextensibility without extensive widened atrophic scars that apparently better fitted with the overlapping hypermobile EDS. The proposita also presented gastrointestinal symptoms secondary to aberrant mast cells mediators release, making the clinical picture even more puzzling. Both patients were diagnosed by molecular testing that revealed a COL5A1 splice mutation. This report highlights the relevance of molecular analysis in patients presenting rather mild signs of EDS, especially in familial cases, and the importance of clinical expertise to make such a diagnosis. Copyright © 2017. Published by Elsevier Masson SAS.

  7. Minocycline-induced hypersensitivity syndrome presenting with meningitis and brain edema: a case report

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    Lefebvre Nicolas

    2007-05-01

    Full Text Available Background Hypersentivity Syndrome (HS may be a life-threatening condition. It frequently presents with fever, rash, eosinophilia and systemic manifestations. Mortality can be as high as 10% and is primarily due to hepatic failure. We describe what we believe to be the first case of minocycline-induced HS with accompanying lymphocytic meningitis and cerebral edema reported in the literature. Case presentation A 31-year-old HIV-positive female of African origin presented with acute fever, lymphocytic meningitis, brain edema, rash, eosinophilia, and cytolytic hepatitis. She had been started on minocycline for inflammatory acne 21 days prior to the onset of symptoms. HS was diagnosed clinically and after exclusion of infectious causes. Minocycline was withdrawn and steroids were administered from the second day after presentation because of the severity of the symptoms. All signs resolved by the seventh day and steroids were tailed off over a period of 8 months. Conclusion Clinicians should maintain a high index of suspicion for serious adverse reactions to minocycline including lymphocytic meningitis and cerebral edema among HIV-positive patients, especially if they are of African origin. Safer alternatives should be considered for treatment of acne vulgaris. Early recognition of the symptoms and prompt withdrawal of the drug are important to improve the outcome.

  8. Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome presenting a primary sternal lesion

    International Nuclear Information System (INIS)

    Serrano, Carlos A.; Leani, Marcelo J.; Rieu, Juan; Serrano, Santiago O.; Dettano, Veronica

    2003-01-01

    SAPHO syndrome-acronym for synovitis, acne, pustules, hyperostosis and osteitis, is a nosological entity including multiple affections with cutaneous and osteoarticular involvement. We report the case of a 59 years old female patient that consulted due to an acute sternal pain. After some months the patient showed a palm-plantar pustular exanthem, acne and fever. SAPHO syndrome was diagnosed based on a CT, an osseous gammagraphy and a biopsy of cutaneous lesions. The current actual tendency is to consider the SAPHO syndrome as a seronegative arthropathy with a similar pathophysiology to Reiter's syndrome. (author)

  9. Cement pulmonary embolism after vertebroplasty.

    Science.gov (United States)

    Sifuentes Giraldo, Walter Alberto; Lamúa Riazuelo, José Ramón; Gallego Rivera, José Ignacio; Vázquez Díaz, Mónica

    2013-01-01

    In recent years, the use of vertebral cementing techniques for vertebroplasty and kyphoplasty has spread for the treatment of pain associated with osteoporotic vertebral compression fractures. This is also associated with the increased incidence of complications related with these procedures, the most frequent being originated by leakage of cementation material. Cement can escape into the vertebral venous system and reach the pulmonary circulation through the azygous system and cava vein, producing a cement embolism. This is a frequent complication, occurring in up to 26% of patients undergoing vertebroplasty but, since most patients have no clinical or hemodynamical repercussion, this event usually goes unnoticed. However, some serious, and even fatal cases, have been reported. We report the case of a 74-year-old male patient who underwent vertebroplasty for persistent pain associated with osteoporotic L3 vertebral fracture and who developed a cement leak into the cava vein and right pulmonary artery during the procedure. Although he developed a pulmonary cement embolism, the patient remained asymptomatic and did not present complications during follow-up. Copyright © 2012 Elsevier España, S.L. All rights reserved.

  10. Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).

    Science.gov (United States)

    Janssens, S; Defoort, P; Vandenbroecke, C; Scheffer, H; Mortier, G

    2008-01-01

    We report on a fetus with prune belly anomaly presenting at 16 weeks gestation. Clinical evaluation after birth revealed other malformations reminiscent of the EEC syndrome. This diagnosis was also suspected in the mother and finally confirmed in both relatives by identification of a heterozygous mutation (p.R204W) in the p63 gene. With this paper we confirm the previously reported occurrence of prune belly anomaly in the EEC syndrome, however here in this family proven by genetic analysis.

  11. Hemi chorea hemiballism syndrome: the first presentation of type 2 diabetes mellitus as a rare cause of chorea

    International Nuclear Information System (INIS)

    Mittal, P.

    2011-01-01

    Hemi chorea-hemiballism syndrome, which is most commonly related to non-ketotic hyperglycemia, is a rare type of chorea. Here, we present an unusual case of Hemi chorea-hemiballism syndrome who was not a known case of diabetes. This case highlights the importance of recognising underlying non-ketotic hyperglycemia, as control of hyperglycemia is helpful in the quick relief of symptoms.

  12. Calcified Cavitating Mesenteric Lymph Node Syndrome: Case Presentation and Literature Review

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    Dipinder S Keer

    2010-01-01

    Full Text Available Cavitating mesenteric lymph node syndrome (CMLNS is a rare complication of celiac disease. Globally, only 36 cases of CMLNS have been reported to date. The present article reports an incidence of its unique pathology and possible complications of celiac disease, followed by a review of the syndrome. A case involving a 51-year-old man with celiac disease who was referred to hospital because of a non-tender abdominal mass is described. Plain film x-ray of the abdomen revealed fine curvilinear calcifications in the left lower quadrant. A complex, cystic-appearing, lobulated mass with somewhat echogenic walls most consistent with calcifications was revealed on subsequent ultrasound (US imaging. Colour Doppler imaging showed no evidence of vascularity within the lesion. Computed tomography (CT imaging showed a thin rim of calcification in the walls of multiple cystic components. Enhanced magnetic resonance (MR imaging revealed a mixed solid and cystic multiloculated mass, with fat-fluid layers originating from the root of the small bowel mesentery. A CT-guided biopsy was performed. The fine-needle aspirate revealed calcified matter with no associated cellular material. No malignant cells were seen; CMLNS was established as the diagnosis. To the authors’ knowledge, there are no previous reports in the literature describing the finding of rim calcification on US or MR imaging in the setting of CMLNS. CMLNS is an important diagnosis to consider, particularly in patients with a history of celiac disease. The finding of rim calcification on US in the setting of cavitating mesenteric adenopathy should prompt further diagnostic imaging studies such as CT or MR imaging. These may lead to additional pathology studies such as a CT-guided biopsy to further characterize the lesion at the cellular level, to investigate potential malignancy and to further guide follow-up and patient management.

  13. Acute adrenal failure as the presenting feature of primary antiphospholipid syndrome in a child

    Directory of Open Access Journals (Sweden)

    Improda Nicola

    2012-09-01

    Full Text Available Abstract Introduction Antiphospholipid syndrome (APS is characterized by recurrent arterial and venous thrombosis and detection of antiphospholipid antibodies (aPLs. This syndrome may be associated with connective tissue disorders, or with malignancies, but it may also appear in isolated form (primary APS. We report on a pediatric patient presenting with acute adrenal failure as the first manifestation of primary APS. Case report A previously healthy 11-year-old boy developed fever, abdominal pain, and vomiting. An abdominal computed tomography scan showed nodular lesions in the adrenal glands. He was referred to our Department and a diagnosis of APS and acute adrenal failure was considered, based on positive aPLs (IgG and IgM, elevated ACTH levels and low cortisol levels. Other features were anemia, thrombocytopenia, elevated inflammatory parameters, hypergammaglobulinemia, prolonged partial thromboplastin time, positive antinuclear, anticardiolipin, anti-platelet antibodies, with negative double-stranded DNA antibodies. Lupus anticoagulant and Coomb’s tests were positive. MRI revealed a bilateral adrenal hemorrhage. A treatment with intravenous metylprednisolone, followed by oral prednisone and anticoagulant, was started, resulting in a progressive improvement. After 2 months he also showed hyponatremia and elevated renine levels, indicating a mineralcocorticoid deficiency, requiring fludrocortisones therapy. Conclusion The development of acute adrenal failure from bilateral adrenal haemorrhage in the context of APS is a rare but life-threatening event that should be promptly recognized and treated. Moreover, this case emphasizes the importance of the assessment of aPLs in patients with acute adrenal failure in the context of an autoreaction.

  14. An interesting septic embolism

    Directory of Open Access Journals (Sweden)

    Funda Uluorman

    2014-01-01

    Full Text Available Septic pulmonary embolism is a rare disease but mortality and morbidity of it is high. Septic pulmonary emboli comes from infected heart valves, thrombophlebitis, and pulmonary artery catheter or infected pacemaker wires as many sources [1,2]. In recent years, pacemaker is a common treatment of the bradiarrhythmia that is persisted in the etiology of septic embolism, its applications has started to pick up [3]. There is the growing number of patients with pacemaker, according to this the frequency of pacemaker lead infection and the number of patients at risk for right-sided endocarditis increase [4]. The patients don't have specific clinical and radiological features because of this it is very difficult to define, so the diagnosis is often delayed [5]. A detailed medical history, a detailed physical examination in diagnosis and evaluation of good additional imaging methods is very important. Early diagnosis and proper treatment, the implementation of the management, can provide good results.

  15. Microcatheter embolization of hemorrhages

    International Nuclear Information System (INIS)

    Seppaenen, Seppo K.; Leppaenen, Martti J.; Pimenoff, Georg; Seppaenen, Janne M.

    1997-01-01

    Purpose. To evaluate the efficacy of embolotherapy using microcatheters in patients with hemorrhage from various locations. Methods. Among 29 patients there were 13 with severe epistaxis, 7 with gastrointestinal bleeding, 4 with hemorrhage in the kidney, 4 with bleeding in pelvic organs and 1 with bleeding in the shoulder region. In all cases, a Tracker-18 or Tracker-10 microcatheter was advanced coaxially through a 4.1 Fr guiding catheter in order to reach the bleeding site as distally as possible. Polyvinyl alcohol microparticles and/or platinum microcoils were used as embolic material. Results. The bleeding was stopped in 90% (26 of 29) of cases. In 66% of cases the treatment was curative, in 7% preoperative, and in 17% palliative. There were 3 clinical failures. Conclusion. Microcatheter embolization is an effective and safe means of managing different kinds of hemorrhage of various causes from a variety of sites

  16. X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis.

    Science.gov (United States)

    Gallagher, Joel; Adams, Juan; Hintermeyer, Mary; Torgerson, Troy R; Lopez-Guisa, Jesus; Ochs, Hans D; Szabo, Sara; Salib, Mina; Verbsky, James; Routes, John

    2016-08-01

    X-linked hyper IgM syndrome (XHIGM) is a combined immunodeficiency caused by mutations in the CD40 ligand (CD40L) gene that typically results in decreased or absent CD40L expression on activated T cells, leading to defective class switching and somatic hypermutation. We describe an infant who presented with respiratory failure due to pulmonary alveolar proteinosis (PAP) with a novel damaging missense mutation in the CD40L gene. Whole exome sequencing (WES) was used to identify a mutation in the CD40L gene. CD40L expression and function were determined by flow cytometry. A 5-month-old previously-healthy male presented with respiratory failure and diffuse pulmonary ground glass opacities on CT scan of the chest. Laboratory evaluation revealed an undetectable IgG, normal IgA, and elevated IgM. A bronchoalveolar lavage demonstrated pulmonary alveolar proteinosis. WES demonstrated a c.608G > C mutation in the CD40L gene resulting in p.R203T. Flow cytometry demonstrated normal CD40L expression on activated T cells but absent binding of CD40-Ig to CD40L on activated patient T cells. The clinical manifestations of XHIGM in our patient had several unique features, including the presentation with PAP, normal serum IgA, and expression of non-functional CD40L on activated T cells. To our knowledge, this is the first published case of PAP in a patient with XHIGM.

  17. Feline asthma syndrome: a retrospective study of the clinical presentation in 29 cats

    International Nuclear Information System (INIS)

    Corcoran, B.M.; Foster, D.J.; Fuentes, V.L.

    1995-01-01

    Feline asthma syndrome (FAS) is a clinical condition characterised by recurrent bouts of coughing, wheezing and, or, dyspnoea. While the aetiology is unproven, the condition is believed to involve a type I immediate hypersensitivity reaction to inhaled allergens. In this paper the clinical data from 29 cats, where a diagnosis of FAS was made, are assessed retrospectively. The most common clinical presentation was recurrent bouts of coughing (n = 26) and dyspnoea (n = 21). Radiographic changes were noted in 24 cats, which included increased bronchial (n = 5), interstitial (n = 7) and mixed (n = 12) (bronchial and interstitial) patterns. Right middle lung lobe collapse was noted in two cats. Abnormal bronchial cytology was present in 16 cats. A predominant eosinophilic sample was collected in only three cats. There were minimal changes in differential white cell counts, and mild eosinophilia was found in only five cats. Prednisolone alone was the most effective therapy, although avoidance of putative aeroallergens and antibacterial therapy was effective in some. On the basis of the data from these cases it would appear that the diagnosis of FAS depends largely on the clinical presentation and radiographic findings. The value of ancillary tests in the diagnosis of FAS appears to be limited

  18. Initial heart rate and cardiovascular outcomes in patients presenting with acute coronary syndrome.

    Science.gov (United States)

    Asaad, Nidal; El-Menyar, Ayman; AlHabib, Khalid F; Shabana, Adel; Alsheikh-Ali, Alawi A; Almahmeed, Wael; Al Faleh, Hussam; Hersi, Ahmad; Al Saif, Shukri; Al-Motarreb, Ahmed; Sulaiman, Kadhim; Al Nemer, Khalid; Amin, Haitham; Al Suwaidi, Jassim

    2014-06-01

    To assess the impact of on-admission heart rate (HR) in patients presenting with acute coronary syndrome (ACS). Data were collected retrospectively from the second Gulf Registry of Acute Coronary Events. Patients were divided according to their initial HR into: (I: < 60, II: 60-69, III: 70-79, IV: 80-89 and V: ≥ 90 bpm). Patients' characteristics and hospital and one- and 12-month outcomes were analyzed and compared. Among 7939 consecutive ACS patients, groups I to V represented 7%, 13%, 20%, 23.5%, and 37%, respectively. Mean age was higher in groups I and V. Group V were more likely males, diabetic and hypertensive. ST-elevation myocardial infarction was the main presentation in groups I and V. Reperfusion therapies were less likely given to group V. Beta blockers were more frequently prescribed to group III in comparison to groups with higher HR. Groups I and V were associated with worse hospital outcomes. Multivariate analysis showed initial tachycardia as an independent predictor for heart failure (OR 2.2; 95%CI: 1.39-3.32), while bradycardia was independently associated with higher one-month mortality (OR 2.0; 95%CI: 1.04-3.85) CONCLUSION: The majority of ACS patients present with tachycardia. However, low or high HR is a marker of high risk that needs more attention and management.

  19. An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy

    Directory of Open Access Journals (Sweden)

    Sheena Sharma

    2016-01-01

    Full Text Available Background. Oral-facial-digital syndrome type 1 (OFD1 is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1 gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15–50% of patients with OFD1 progress to end-stage kidney disease following development of polycystic changes within the kidneys. This condition almost always causes intrauterine lethality in males. Description of Case Diagnosis and Treatment. A Caucasian male aged 9 years and 9 months presented with increased urinary frequency, increased thirst, and decreased appetite. Physical examination demonstrated short stature, hearing loss, photophobia, murmur, and hypogonadism. He had no other dysmorphic features. Laboratory results revealed anemia, renal insufficiency, and dilute urine with microscopic hematuria but no proteinuria. Ultrasound showed small kidneys with increased echogenicity but no evidence of cystic changes. A Ciliopathy Panel showed a novel and likely pathogenic deletion, approximately 7.9 kb, in the OFD1 gene encompassing exons 16, 17, and 19 (c.1654+833_2599+423del. Brain MRI did not demonstrate typical OFD1 findings. He is currently on chronic hemodialysis awaiting transplant from a living donor. Conclusions. We present a male patient with OFD1 mutation who lacks the classic OFD1 phenotype who presented with end-stage renal disease without evidence of polycystic changes within the kidneys.

  20. Presentations

    International Nuclear Information System (INIS)

    2007-01-01

    The PARIS meeting held in Cracow, Poland from 14 to 15 May 2007. The main subjects discussed during this meeting were the status of international project dedicated to gamma spectroscopy research. The scientific research program includes investigations of giant dipole resonance, probe of hot nuclei induced in heavy reactions, Jacobi shape transitions, isospin mixing and nuclear multifragmentation. The mentioned programme needs Rand D development such as new scintillations materials as lanthanum chlorides and bromides as well as new photo detection sensors as avalanche photodiodes - such subjects are also subjects of discussion. Additionally results of computerized simulations of scintillation detectors properties by means of GEANT- 4 code are presented

  1. Systemic Air Embolism After CT-guided Lung Biopsy

    Science.gov (United States)

    2017-11-27

    Patients Who Underwent Percutaneous Lung Biopsy Under CT Guidance; Patients Who Presented Systemic Air Embolism After Percutaneous Lung Biopsy Under CT Guidance Depicted at the Time of the Procedure on a Whole Thoracic CT

  2. Brown′s syndrome with ocular albinism: Case report of a rare presentation and literature review

    Directory of Open Access Journals (Sweden)

    Soumya Nambiar

    2015-01-01

    Full Text Available We report a rare case of Brown′s syndrome associated with ocular albinism in a 10-year-old boy. This report highlights the importance of further analysis of cases of Brown′s syndrome and throws some light on the etiology and association of this rare condition.

  3. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes...

  4. Bilateral Wyburn-Mason Syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneuos disorder

    DEFF Research Database (Denmark)

    Cortnum, Søren Ole Stigaard; Sørensen, Preben; Andresen, J

    2008-01-01

    . Wyburn-Mason syndrome is a very rare congenital neurocutaneuos disorder comprising of vascular malformations of the retina, ipsilateral cerebral AVMs and occasionally lesions in the oronasopharyngeal area. Subarachnoid haemorrhage associated with Wyburn-Mason syndrome has been described in only 5...

  5. Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

    NARCIS (Netherlands)

    van der Werf, Christine S.; Sribudiani, Yunia; Verheij, Joke B. G. M.; Carroll, Matthew; O'Loughlin, Edward; Chen, Chien-Huan; Brooks, Alice S.; Liszewski, M. Kathryn; Atkinson, John P.; Hofstra, Robert M. W.

    Purpose: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these

  6. Embolization of spinal arteriovenous malformations

    International Nuclear Information System (INIS)

    Son, Mi Young; Kim, Sun Yong; Park, Bok Hwan

    1990-01-01

    Recently, therapeutic embolization has been advocated as the treatment of choice for spinal AVM(arteriovenous malformations). The authors review our experience with two cases of spinal AVM treated by embolization using coaxial Tracker-18 microcatheter with Latvian. The patients included a 10 year old male with glomus type and a 14 year old female with juvenile type spinal AVM revealed recanalization 5 month later. Embolization provides curative or temporary treatment for spinal AVM. After embolic occlusion, delayed reassessment with arteriography is indicated, particularly if symptoms persist or recur

  7. Functional Imaging Signature of Patients Presenting with Polycythemia/Paraganglioma Syndromes.

    Science.gov (United States)

    Janssen, Ingo; Chen, Clara C; Zhuang, Zhenping; Millo, Corina M; Wolf, Katherine I; Ling, Alexander; Lin, Frank I; Adams, Karen T; Herscovitch, Peter; Feelders, Richard A; Fojo, Antonio T; Taieb, David; Kebebew, Electron; Pacak, Karel

    2017-08-01

    Pheochromocytoma/paraganglioma (PPGL) syndromes associated with polycythemia have previously been described in association with mutations in the von Hippel-Lindau gene. Recently, mutations in the prolyl hydroxylase gene ( PHD ) 1 and 2 and in the hypoxia-inducible factor 2 α ( HIF2A ) were also found to be associated with multiple and recurrent PPGL. Such patients also presented with PPGL and polycythemia, and later on, some presented with duodenal somatostatinoma. In additional patients presenting with PPGL and polycythemia, no further mutations have been discovered. Because the functional imaging signature of patients with PPGL-polycythemia syndromes is still unknown, and because these tumors (in most patients) are multiple, recurrent, and metastatic, the goal of our study was to assess the optimal imaging approach using 4 different PET radiopharmaceuticals and CT/MRI in these patients. Methods: Fourteen patients (10 women, 4 men) with confirmed PPGL and polycythemia prospectively underwent 68 Ga-DOTATATE (13 patients), 18 F-FDG (13 patients), 18 F-fluorodihydroxyphenylalanine ( 18 F-FDOPA) (14 patients), 18 F-fluorodopamine ( 18 F-FDA) (11 patients), and CT/MRI (14 patients). Detection rates of PPGL lesions were compared between all imaging studies and stratified between the underlying mutations. Results: 18 F-FDOPA and 18 F-FDA PET/CT showed similar combined lesion-based detection rates of 98.7% (95% confidence interval [CI], 92.7%-99.8%) and 98.3% (95% CI, 90.9%-99.7%), respectively. The detection rates for 68 Ga-DOTATATE (35.3%; 95% CI, 25.0%-47.2%), 18 F-FDG (42.3; 95% CI, 29.9%-55.8%), and CT/MRI (60.3%; 95% CI, 48.8%-70.7%) were significantly lower ( P < 0.01), irrespective of the mutation status. Conclusion: 18 F-FDOPA and 18 F-FDA are superior to 18 F-FDG, 68 Ga-DOTATATE, and CT/MRI and should be the radiopharmaceuticals of choice in this rare group of patients. © 2017 by the Society of Nuclear Medicine and Molecular Imaging.

  8. Coil embolization of an enlarging fusiform myxomatous cerebral aneurysm

    Directory of Open Access Journals (Sweden)

    Frances Lazarow, MD

    2018-04-01

    Full Text Available Myxomatous cerebral aneurysms are rare sequelae of cardiac atrial myxoma. These aneurysms are generally fusiform, multiple, and distal. Pathogenesis and evolution of these aneurysms is still debated. There are currently no guidelines on the management of aneurysms secondary to atrial myxoma. We present a case of a 52-year-old man with multiple fusiform aneurysms 3 years after resection of a left atrial myxoma. One of these aneurysms was followed with cerebral angiography and showed substantial interval enlargement. This aneurysm was subsequently embolized. All aneurysms were stable 6 months post-embolization. Keywords: Myxomatous aneurysm, Fusiform, Coil embolization

  9. Anterior mediastinal paraganglioma: A case for preoperative embolization

    Directory of Open Access Journals (Sweden)

    Shakir Murtaza

    2012-07-01

    Full Text Available Abstract Background Paraganglioma is a rare but highly vascular tumor of the anterior mediastinum. Surgical resection is a challenge owing to the close proximity to vital structures including the heart, trachea and great vessels. Preoperative embolization has been reported once to facilitate surgical treatment. Case presentation We report a case of anterior mediastinal paraganglioma that was embolized preoperatively, and was resected without the need for cardiopulmonary bypass and without major bleeding complications. Conclusion We make a case to further the role of preoperative embolization in the treatment of mediastinal paragangliomas.

  10. Electrocardiographic Findings in Patients With Acute Coronary Syndrome Presenting With Out-of-Hospital Cardiac Arrest.

    Science.gov (United States)

    Sarak, Bradley; Goodman, Shaun G; Brieger, David; Gale, Chris P; Tan, Nigel S; Budaj, Andrzej; Wong, Graham C; Huynh, Thao; Tan, Mary K; Udell, Jacob A; Bagai, Akshay; Fox, Keith A A; Yan, Andrew T

    2018-02-01

    We sought to characterize presenting electrocardiographic findings in patients with acute coronary syndromes (ACSs) and out-of-hospital cardiac arrest (OHCA). In the Global Registry of Acute Coronary Events and Canadian ACS Registry I, we examined presenting and 24- to 48-hour follow-up ECGs (electrocardiogram) of ACS patients who survived to hospital admission, stratified by presentation with OHCA. We assessed the prevalence of ST-segment deviation and bundle branch blocks (assessed by an independent ECG core laboratory) and their association with in-hospital and 6-month mortality among those with OHCA. Of the 12,040 ACS patients, 215 (1.8%) survived to hospital admission after OHCA. Those with OHCA had higher presenting rates of ST-segment elevation, ST-segment depression, T-wave inversion, precordial Q-waves, left bundle branch block (LBBB), and right bundle branch block (RBBB) than those without. Among patients with OHCA, those with ST-segment elevation had significantly lower in-hospital mortality (20.9% vs 33.0%, p = 0.044) and a trend toward lower 6-month mortality (27% vs 39%, p = 0.060) compared with those without ST-segment elevation. Conversely, among OCHA patients, LBBB was associated with significantly higher in-hospital and 6-month mortality rates (58% vs 22%, p presenting ECG resolved by 24 to 48 hours. In conclusion, compared with ACS patients without cardiac arrest, those with OHCA had higher rates of ST-segment elevation, LBBB, and RBBB on admission. Among OHCA patients, ST-segment elevation was associated with lower in-hospital mortality, whereas LBBB was associated with higher in-hospital and 6-month mortality. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Bilateral Occipital Lobe Hemorrhages Presenting as Denial of Blindness in Posterior Reversible Encephalopathy Syndrome- A Rare Combination of Anton Syndrome and Encephalopathy.

    Science.gov (United States)

    Godasi, Raja; Rupareliya, Chintan; Bollu, Pradeep C

    2017-10-04

    Posterior reversible encephalopathy syndrome (PRES) or reversible posterior leukoencephalopathy (RPL) is an acute neurological syndrome characterized by the development of radiological abnormalities on brain imaging along with clinical manifestations, such as a headache, seizures, encephalopathy, etc. We report the case of a middle-aged male who presented to the emergency department after he woke up with complete blindness and was found to have hemorrhagic PRES. Intracranial hemorrhages were seen in around 15% of patients who presented with this condition. In this article, we review the different types of hemorrhages seen in the setting of PRES and their associations.

  12. Refractory Post-Herpetic Neuralgia As An Initial Presentation Of Olfactory Neuroblastoma-Related Ectopic ACTH Syndrome

    Directory of Open Access Journals (Sweden)

    Hsiang-Hung Lin

    2009-03-01

    Full Text Available We report a woman aged 64 years with ectopic adrenocorticotropic hormone (ACTH syndrome caused by olfactory neuroblastoma as an initial presentation of refractory post-herpetic neuralgia. The manifestations such as cushingoid appearance and endocrine abnormalities are compatible with Cushing's syndrome. Brain computed tomography revealed a sellar mass. A biopsy revealed olfactory neuroblastoma. Immunohistochemical staining further defined the tumor as an ACTH-secreting neuroblastoma. Subsequent opportunistic infections by Candida glabrata fungemia and multiple drug-resistant Acinetobacter baumannii pneumonia occurred during hospitalization as a complication of severe hypercortisolism. Before any therapy for Cushing's syndrome and neuroblastoma could be initiated, the patient died from sepsis and multiorgan failure. We propose that Cushing's syndrome is more complex than what clinicians thought, and that meticulous cerebral imaging studies are crucial.

  13. A case report and literature review of Churg-Strauss syndrome presenting with myocarditis.

    Science.gov (United States)

    Qiao, Lu; Gao, Dengfeng

    2016-12-01

    Churg-Strauss syndrome (CSS) is a multisystem disorder characterized by asthma, prominent peripheral blood eosinophilia, and vasculitis signs. Here we report a case of CSS presenting with acute myocarditis and heart failure and review the literature on CSS with cardiac involvement. A 59-year-old man with general fatigue, numbness of limbs, and a 2-year history of asthma was admitted to the department of orthopedics. Eosinophilia, history of asthma, lung infiltrates, peripheral neurological damage, and myocarditis suggested the diagnosis of CSS. Transthoracic echocardiography revealed a dilated hypokinetic left ventricle (left ventricular ejection fraction ∼40%) with mild segmental abnormalities in the septal and apical segments. By reviewing the present case reports, we concluded that (1) the younger age of CSS, the greater occurrence rate of complicating myocarditis and the poorer prognosis; (2) female CSS patients are older than male patients; (3) patients with cardiac involvement usually have a history of severe asthma; (4) markedly increased eosinophil count suggests a potential diagnosis of CSS (when the count increases to 20% of white blood cell counts or 8.1 × 109/L, eosinophils start to infiltrate into myocardium); and (5) negative ANCA status is associated with heart disease in CSS.

  14. Cardiogenic Shock: An Unusual Initial Presentation of Churg-Strauss Syndrome

    Directory of Open Access Journals (Sweden)

    M. Apirami

    2018-01-01

    Full Text Available Churg-Strauss syndrome (CSS is a rare autoimmune condition, characterized by necrotizing extravascular eosinophil rich granulomatous inflammation of the tissues and disseminated small-medium sized vessel vasculitis in a patient with bronchial asthma and tissue eosinophilia. Though pulmonary involvement is the predominant feature of CSS, extra pulmonary involvement, in particular, cardiac involvement, denotes an adverse outcome. Here we report a 50-year-old female who presented with cardiogenic shock due to an acute coronary event as the initial manifestation of CSS. A subsequent coronary angiogram revealed normal epicardial coronaries. She was a patient with bronchial asthma and developed vasculitic rash, bilateral sensory motor polyneuropathy, and migratory peripheral lung field shadows in the background of peripheral eosinophilia during the course of the illness. She was diagnosed as having CSS based on ACR criteria and aggressively treated with immunosuppressants according to her Five-Factor Score and has shown prompt response to therapy. This case report adds to the literature another rare initial presentation of CSS to the existing array of its clinical manifestations.

  15. Severe abdominal pain as a presenting symptom of probable catastrophic antiphospholipid syndrome.

    Science.gov (United States)

    Haskin, Orly; Amir, Jacob; Schwarz, Michael; Schonfeld, Tommy; Nahum, Elhanan; Ling, Galina; Prais, Dario; Harel, Liora

    2012-07-01

    Catastrophic antiphospholipid syndrome (APS) in pediatric medicine is rare. We report 3 adolescents who presented with acute onset of severe abdominal pain as the first manifestation of probable catastrophic APS. The 3 patients, 2 male patients and 1 female patient were 14 to 18 years old. One had been diagnosed with systemic lupus erythematosus in the past, but the other 2 had no previous relevant medical history. All presented with excruciating abdominal pain without additional symptoms. Physical examination was noncontributory. Laboratory results were remarkable for high inflammatory markers. Abdominal ultrasonography was normal, and abdominal computed tomography scan showed nonspecific findings of liver infiltration. Only computed tomography angiography revealed evidence of extensive multiorgan thrombosis. All patients had elevated titers of antiphospholipid antibodies. The patients were treated with full heparinization, high-dose steroids, and intravenous immunoglobulin with a resolution of symptoms. One patient was resistant to the treatment and was treated with rituximab. In conclusion, severe acute abdominal pain can be the first manifestation of a thromboembolic event owing to catastrophic APS even in previously healthy adolescents. Diagnosis requires a high index of suspicion with prompt evaluation and treatment to prevent severe morbidity and mortality.

  16. Noninvasive treatment choice for an aged down syndrome patient presenting a residual periapical cyst.

    Science.gov (United States)

    Sperandio, Felipe Fornias; Carli, Marina Lara de; Guimaräes, Eduardo Pereira; Pereira, Alessandro Antônio Costa; Hanemann, Joäo Adolfo Costa

    2014-03-01

    This is the first report to illustrate the marsupialization as an effective treatment for a Down Syndrome (DS) patient presenting a residual periapical cyst. These cysts occur within the alveolar ridge, usually at the local site of a previously extracted tooth that did not received proper curettage; usually the surgical excision of a cyst and also the vigorous curettage of a socket is very simple, if not for the fact that mentally disabled patients require rapid and non-stressful procedures. The 54-year-old DS patient represented herein received a minimally invasive marsupialization under local anesthesia. Due to the large extent of the lesion, the acrylic resin drain was maintained for 30 days. Through the following period, a daily irrigation of the cystic cavity with saline solution was carried out to prevent a secondary infection within the cystic cavity. A follow-up of 16 months showed no signs of recurrence. Marsupialization of residual periapical cyst is completely effective and safe, even for a DS patient that is considered to be at an advanced age. Marsupialization poses as a minimally invasive choice for mentally disabled patients, even when presenting advanced ages; treatment success was stated by the easy clinical conduct, uneventful postoperative situation and the lack of recurrence along 16 months of follow-up.

  17. Presentation

    Directory of Open Access Journals (Sweden)

    Eduardo Vicente

    2013-06-01

    Full Text Available In the present edition of Significação – Scientific Journal for Audiovisual Culture and in the others to follow something new is brought: the presence of thematic dossiers which are to be organized by invited scholars. The appointed subject for the very first one of them was Radio and the invited scholar, Eduardo Vicente, professor at the Graduate Course in Audiovisual and at the Postgraduate Program in Audiovisual Media and Processes of the School of Communication and Arts of the University of São Paulo (ECA-USP. Entitled Radio Beyond Borders the dossier gathers six articles and the intention of reuniting works on the perspectives of usage of such media as much as on the new possibilities of aesthetical experimenting being build up for it, especially considering the new digital technologies and technological convergences. It also intends to present works with original theoretical approach and original reflections able to reset the way we look at what is today already a centennial media. Having broadened the meaning of “beyond borders”, four foreign authors were invited to join the dossier. This is the first time they are being published in this country and so, in all cases, the articles where either written or translated into Portuguese.The dossier begins with “Radio is dead…Long live to the sound”, which is the transcription of a thought provoking lecture given by Armand Balsebre (Autonomous University of Barcelona – one of the most influential authors in the world on the Radio study field. It addresses the challenges such media is to face so that it can become “a new sound media, in the context of a new soundscape or sound-sphere, for the new listeners”. Andrew Dubber (Birmingham City University regarding the challenges posed by a Digital Era argues for a theoretical approach in radio studies which can consider a Media Ecology. The author understands the form and discourse of radio as a negotiation of affordances and

  18. Acute pulmonary embolism in helical computed tomography

    International Nuclear Information System (INIS)

    Paslawski, M.

    2005-01-01

    Pulmonary embolism is a common condition in which diagnostic and therapeutic delays contribute to substantial morbidity and mortality. Clinical diagnosis is difficult because the signs and symptoms re unspecific, and a differential diagnosis is extensive, including pneumonia or bronchitis, asthma, myocardial infraction, pulmonary edema, anxiety, dissection of the aorta, pericardial tamponade, lung cancer, primary pulmonary hypertension, rib fracture, and pneumothorax. The purpose of the study was to present the use of CT in diagnosing acute pulmonary embolism. A group of 23 patients with clinically suspected pulmonary embolism underwent CT examination with a helical CT scanner (Somatom Emotion, Siemens) before and after administration of 150 ml of Ultravist. Pulmonary embolism was found in the CT examinations of 13 patients. In two of these it was a central filling defect. Amputation of the artery was found in one. Parietal filling defect in three patients formed an acute angle with the vessel walls. Saddle emboli appearing as filling defects in the contrast column that hung over vessel bifurcations was found in two patients. In five patients,emboli were found in small segmental arteries. CT provides information not only on the pulmonary arteries, but also on the lung parenchyma, hila, mediastinum, and the heart. Alternative findings may be identified by CT chest examination, stablishing alternative diagnoses, including pulmonary disorders (such as pneumonia or fibrosis), pleural abnormalities, and cardiovascular disease (such as aortic dissection or pericardial tamponade). Another advantage of the CT is its widespread availability.(author)

  19. Congenital defects of C1 arches and odontoid process in a child with Down′s syndrome: A case presentation

    Directory of Open Access Journals (Sweden)

    Catherine Hatzantonis

    2016-01-01

    Full Text Available We present the case of a 2-year-old child with Down′s syndrome who presented to our unit with torticollis. Imaging studies revealed the rare occurrence of anterior and posterior C1 arch defects, absent odontoid process, and atlantoaxial subluxation. We managed her conservatively for 3 years without neurological deficits or worsening of atlantoaxial subluxation. We discuss the rare occurrences of anterior and posterior arch defects of the atlas, the radiological presentations of axis defects in patients, and the occurrence of atlantoaxial instability in patients with Down′s syndrome. Management options with consideration to surgery in asymptomatic and symptomatic patients are also discussed.

  20. An Unusual Presentation of Pyoderma Gangrenosum Leading to Systemic Inflammatory Response Syndrome

    Directory of Open Access Journals (Sweden)

    Ali Didan

    2017-09-01

    Full Text Available This is a report of an atypical presentation of pyoderma gangrenosum (PG in a 26-year-old male who had a negative septic screen. The patient had a life-threatening presentation requiring an intensive care unit (ICU admission for vasopressor support. It was thought that the likely cause of circulatory collapse was an overwhelming cytokine reaction or systemic inflammatory response syndrome (SIRS secondary to extensive PG lesions rather than septic shock. The patient presented with multiple large ulcers, the largest being 4 cm in diameter on the central chest. He developed fevers and circulatory shock preceding his ICU admission. Microbiological specimens, including blood cultures and wound swabs, were negative for any growth (bacterial, fungal, and tuberculosis. No infective foci could be identified as a cause of hemodynamic instability. During admission, the patient’s condition was complicated by multi-organ dysfunction. Wound debridement extending to the deep fascia on the anterior chest, back, bilateral shoulders, and right upper thigh was deemed necessary and performed by the plastic surgery team. Histopathology showed abundant neutrophils but could not confirm an infective process. Overall, the patient made an impressive recovery with almost complete healing of all lesions following oral prednisolone alone. Based on the history and clinical and laboratory findings, a diagnosis of PG complicated by a SIRS was favored. Very few cases of neutrophilic dermatoses have been described in this way. A similar presentation has been described in a 76-year-old female with lower-leg ulcers who developed circulatory shock and required an amputation. Lesions continued to appear despite antibiotics and surgical treatment. Septic screen was negative. She was subsequently diagnosed with PG and recovered rapidly after steroid therapy.

  1. Marital status and outcome of patients presenting with acute coronary syndrome: an observational report.

    Science.gov (United States)

    Hadi Khafaji, Hadi A R; Al Habib, Khalid; Asaad, Nidal; Singh, Rajvir; Hersi, Ahmad; Al Falaeh, Husam; Al Saif, Shukri; Al-Motarreb, Ahmed; Almahmeed, Wael; Sulaiman, Kadhim; Amin, Haitham; Al-Lawati, Jawad; Al-Sagheer, Norah Q; Alsheikh-Ali, Alawi A; Al Suwaidi, Jassim

    2012-12-01

    BACKGROUND & HYPOTHESIS: Data on the clinical characteristics and outcome of patients presenting with acute coronary syndrome (ACS) according to their marital status is not clear. A total of 5334 patients presenting with ACS in 65 hospitals in 6 Middle East countries in the 2nd Gulf Registry of Acute Coronary Events (Gulf RACE-2) were studied according to their marital status (5024 married, 100 single, and 210 widowed patients). When compared to married patients, widowed patients were older and more likely to be female. Widowed patients were more likely to have diabetes mellitus, hypertension, history of heart failure, and peripheral vascular disease and were less likely to be tobacco users when compared to the other groups. Widowed patients were also more likely to present with atypical symptoms and have advanced Killip class. Widowed patients were more likely to present with non-ST-elevation myocardial infarction (NSTEMI) when compared to the other 2 groups. Widowed patients were more likely to have heart failure (P = 0.001), cardiogenic shock (P = 0.001), and major bleeding (P = 0.002) when compared to the other groups. No statistically significant difference was observed in regard to duration of hospital stay, door to needle time in STEMI patients, or cardiac arrhythmias between the various groups. Widowed patients had higher in-hospital, 30-day, and 1-year mortality rates (P = 0.001). Marital status was an independent predictor for in-hospital mortality. Widowed marital status was associated with worse cardiovascular risk profile, and worse in-hospital and 1-year outcome. Future work should be focused on whether the provision of psychosocial support will result in improved outcomes among this high-risk group. © 2012 Wiley Periodicals, Inc.

  2. Superior Vena Cava Syndrome due to Thrombosis: A Rare Paraneoplastic Presentation of Bronchogenic Carcinoma

    Directory of Open Access Journals (Sweden)

    Avradip Santra

    2016-07-01

    Full Text Available Superior vena cava (SVC syndrome is not an uncommon occurrence in patients with malignancy and it is often described as a medical emergency. In majority of the cases, SVC syndrome occurs due to mechanical obstruction of the SVC by extraluminal compression with primary intrathoracic malignancies. However, intraluminal obstruction due to thrombosis can also produce symptoms and signs of SVC syndrome. Clot-related SVC obstruction is mostly associated with indwelling central venous catheter and pacemaker leads, although such thrombosis can occur spontaneously in a background of a hypercoagulable state, e.g., malignancy. Here, an unusual case of sudden onset SVC syndrome has been reported, which on initial radiologic evaluation was found to have a lung nodule without any significant mediastinal mass or adenopathy compressing SVC. Subsequent investigation with Doppler ultrasonography of the neck showed thrombosis in the right internal jugular, right subclavian and right brachiocephalic vein, which was responsible for SVC syndrome. Histopathological evaluation of lung nodule confirmed presence of an adenocarcinoma. Therefore, venous thromboembolism as a paraneoplastic syndrome should be kept in mind while evaluating a case of SVC obstruction in a cancer patient. Management of the underlying disease is of prime importance in such cases and anticoagulation is the mainstay of therapy. Ability to identify paraneoplastic syndrome may have a significant effect on clinical outcome, ranging from early diagnosis to improved quality of life of the patient.

  3. Metachronous Bilateral Posterior Tibial Artery Aneurysms in Ehlers-Danlos Syndrome Type IV

    International Nuclear Information System (INIS)

    Hagspiel, Klaus D.; Bonatti, Hugo; Sabri, Saher; Arslan, Bulent; Harthun, Nancy L.

    2011-01-01

    Ehlers-Danlos syndrome type IV is a life-threatening genetic connective tissue disorder. We report a 24-year-old woman with EDS-IV who presented with metachronous bilateral aneurysms/pseudoaneurysms of the posterior tibial arteries 15 months apart. Both were treated successfully with transarterial coil embolization from a distal posterior tibial approach.

  4. Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma

    Directory of Open Access Journals (Sweden)

    Sunil Tulpule

    2016-02-01

    Full Text Available Muir-Torre syndrome (MTS is a rare genodermatosis, diagnosed by the presence of sebaceous neoplasms along with an internal malignancy, most commonly colorectal carcinomas. MTS is most commonly caused by microsatellite instabilities of the hMLH1 and hMSH2 mismatch repair genes, and is rarely caused by mutations of the hMSH6 gene. We describe the case of a 56-year-old male who presented with an enlarging mass on his back as well as hematochezia. The back mass was excised, and pathology confirmed microsatellite instability in MSH2 and MSH6. Abdominal CT and colonoscopy confirmed the presence of synchronous masses in the cecum, ascending colon, and the transverse colon. He refused any further workup or treatment, only to return 8 months later complaining of hematochezia and discomfort due to an enlarging mass protruding from the rectum. After consenting to surgical intervention, he agreed to outpatient chemotherapy treatment. The presence of sebaceous neoplasms should raise suspicion for the possibility of an associated internal malignancy.

  5. Primary Sjogren’s Syndrome Presented with Sensory Ataxia Associated with Bilateral Hearing Loss and Dementia

    Directory of Open Access Journals (Sweden)

    Madjdinasab Nastaran

    2009-10-01

    Full Text Available Primary Sjorgen syndrome is one of the commonest autoimmune diseases with characteristic of involvement of lachrymal and salivary glands, but other organ involvements as peripheral and central nervous system are also possible. The reported case is a 23 year old lady presented with progressive sensory ataxia and weakness of four limbs, bilateral sensory hearing loss and cognitive impairment with minimental score equal to 15/30 since one year prior to admission with associated bilateral central corneal opacity, dry mouth and dry eyes. Electro physiologic studies showed sensory motor axonal polyneuropathy . A biopsy of sural nerve and salivary glands of lower lip showed lymphocytic infiltration. Serologic evidence showed positive Anti Ro (SS-B, negative HCV and HIV antibody, thereafter the diagnosis was confirmed and according to this diagnosis she received high dose of intravenous methyl prednisolon then both hearing loss and cognitive impairment improved partially (minimental score 21/30 . At last, she underwent plasmapheresis and her sensory ataxia improved greatly.

  6. Clinical presentation of acute coronary syndrome in patients previously treated with nitrates.

    Science.gov (United States)

    Latour-Pérez, Jaime; Gómez-Tello, Vicente; Fuset-Cabanes, María Paz; Balsa, Eva de Miguel; Sáez, Frutos Del Nogal; Orts, Francisco Javier Coves; Rodríguez, Carmen Martín; Pino-Izquierdo, Karel; Pesquera, María de la Concepción Pavía; Rodríguez, Antonio José Montón

    2013-11-01

    Several reports have suggested that nitrates limit acute ischaemic damage by a mechanism similar to preconditioning. This study aims to evaluate the effect of chronic oral nitrates on the clinical presentation and short-term outcomes of patients admitted with acute coronary syndrome (ACS). A retrospective cohort study was conducted in patients with ACS admitted to 62 acute care units from 2010 to 2011. A propensity score-matched samples analysis was performed. We analysed 3171 consecutive patients, of whom 298 (9.4%) were chronically treated with nitrates. Patients previously treated with nitrates had higher comorbidity and disease severity at admission, lower prevalence of ACS with ST elevation, lower troponin elevation, higher prevalence of initial Killip class 2-4 and higher hospital mortality. The propensity score-matched analysis confirmed that previous use of nitrates is independently associated with a lower prevalence of ST-elevation ACS [odds ratio (OR) 0.53, 95% confidence interval (CI) 0.36-0.78; P = 0.0014] and a lower troponin elevation (OR 0.61, 95% CI 0.41-0.92) but not with Killip class on admission (OR 1.18, 95% CI 0.83-1.67, P = 0.3697) or mortality (OR 0.71, 95% CI 0.37-1.38, P = 0.3196). The results support the hypothesis that nitrates have a protective effect on acute ischaemic injury.

  7. Diagnosis of Churg-Strauss Syndrome Presented With Neuroendocrine Carcinoma: A Case Report.

    Science.gov (United States)

    Park, Dayun; Lee, Ho Jun; Lee, Kwang Hoon; Kwon, Bum Sun; Park, Jin-Woo; Nam, Ki Yeun; Lee, Kyoung Hwan

    2017-06-01

    Churg-Strauss syndrome (CSS) is a rare systemic vasculitis that affect small and medium-sized blood vessels and is accompanied by asthma, eosinophilia, and peripheral neuropathy. This report describes a case of a 52-year-old man who had a history of sinusitis, asthma, and thymus cancer and who had complained of bilateral lower extremity paresthesia and weakness for a month. Peripheral neuropathy was detected by electrodiagnostic studies. Resection of a mediastinal mass, which was diagnosed as thymic neuroendocrine carcinoma, was performed five months before his visit. After thymectomy, peripheral blood tests revealed a gradual increase in eosinophils. Two months after surgery, he was admitted to the hospital for dyspnea, and nodules of focal consolidation were found in his chest X-ray. One month later, pyoderma occurred in the right shin, and the skin biopsy showed extravascular eosinophilic infiltration. He was diagnosed with CSS after thymectomy, and we report a very rare case of CSS presented with thymic neuroendocrine carcinoma.

  8. Numb chin syndrome as a primary presentation of metastatic breast cancer

    Directory of Open Access Journals (Sweden)

    Jasjot Sahni

    2017-01-01

    Full Text Available Numb chin syndrome (NCS is characterized by facial neuropathy along the distribution of the mental branch of the trigeminal nerve. We report a case of NCS in a 65 year old woman who initially presented to her dentist with nonspecific symptoms that she thought were related to a tooth infection. The patient was otherwise healthy and her medical history was significant for breast cancer treated 20 years prior; her cancer was thought to be in complete remission. Upon clinical examination and conventional dental radiography, no pathology was seen such as odontogenic, periodontal, or jawbone infection. Only paresthesia and hypoesthesia was noted unilaterally in her left chin, jaw and lower lip. A computed tomography scan was obtained for further evaluation and revealed lytic metastatic disease involving the right mandible at the level of the mandibular foramen; lytic lesions of the thoracic vertebrae and multiple pulmonary nodules were also noted. Oncologic referral was made immediately which confirmed a diagnosis of metastatic breast cancer. Familiarity with NCS is important for oral health care providers in order to identify etiology and differential diagnosis, as well as to provide appropriate referral and management.

  9. Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation.

    Science.gov (United States)

    Bender, H Allison; Zaroff, Charles M; Karantzoulis, Stella; Nakhutina, Luba; MacAllister, William S; Luciano, Daniel

    2011-01-01

    The authors characterized the cognitive, adaptive, and behavioral sequelae of Coffin-Siris (CS) syndrome and epilepsy in a 7.5-year-old child. Little is known about the early neurobehavioral presentation of CS. Clinical features consistent with this genetic anomaly include underdeveloped tips and nails of the fifth fingers, extended infranasal depression, and craniofacial abnormalities. MRI findings often reveal callosal agenesis. The authors conducted a neuropsychological evaluation and obtained parental ratings of behavioral and adaptive functioning. Attentional abilities were limited. As assessed by the Mullen Scales of Early Learning, receptive language abilities (age equivalent [AE]: 3-3) were relatively stronger than expressive skills (AE: 1-4). Adaptive functioning was low across all domains (Vineland Adaptive Behavior Composite AE: 1-9). On the Behavior Assessment for Children (BASC-2), social skills dysfunction, stereotyped and self-stimulatory behaviors, restricted interests, ritualistic play, and inappropriate object usage were noted. No significant mood disturbances were endorsed. Study findings indicate a diffuse pattern of neurobehavioral deficits in a child with CS and epilepsy. Further clinical assessment and research should include multidimensional assessment techniques, including evaluation of adaptive behavior, in an effort to capture the full range developmental sequelae in children with CS.

  10. Polycystic ovary syndrome: clinical presentation in normal-weight compared with overweight adolescents.

    Science.gov (United States)

    McManus, Shilpa S; Levitsky, Lynne L; Misra, Madhusmita

    2013-01-01

    To characterize polycystic ovary syndrome (PCOS) in adolescents and determine whether a distinct clinical presentation differentiates normal-weight (NW) from overweight (OW) PCOS. Retrospective chart review of patients seen in a tertiary care center from 1998-2008 who met the National Institutes of Health and/or Rotterdam criteria for PCOS (N = 211; NW = 43, OW = 168). We collected data on clinical features, biochemical markers, and ultrasound findings. Patient age ranged from 11.3 to 20.3 years (mean, 15.7 ± 1.7 years), and body mass index (BMI) from 17.4 to 64.2 kg/m2 (mean, 31.7 ± 7.7 kg/m2). Seventy-one percent of patients were Caucasian, 85% had irregular menses, 69% reported hirsutism, 18% had moderate to severe acne, 91% had a high free androgen index (FAI), and 8% had abnormal thyroid-stimulating hormone (TSH) levels. The BMI-standard deviation (SD) score was 0.1 ± 0.5 in NW and 3.4 ± 1.8 in OW girls. NW girls were older at diagnosis (16.4 ± 1.4 years vs. 15.5 ± 1.7 years; P = .0006) than OW girls, less likely to have a family history of obesity (22% vs. 65%; PPCOS is likely part of a continuous spectrum of clinical PCOS rather than a distinct entity.

  11. An Unusual Presentation of Adult Tethered Cord Syndrome Associated with Severe Chest and Upper Back Pain

    Directory of Open Access Journals (Sweden)

    Shotaro Kanda

    2015-01-01

    Full Text Available Adult tethered cord syndrome (ATCS is a rare entity that usually presents with multiple neurological symptoms, including lower extremity pain, backache, lower extremity muscle weakness, and bowel/bladder disturbances. Prompt surgical treatment is often necessary to avoid permanent sequelae. We report a 63-year-old man with sudden-onset severe right chest and upper back pain, followed by urinary retention. His initial workup included computed tomography of the abdomen and pelvis, which showed a presacral mass. His symptom-driven neurological workup focused on the cervical and thoracic spine, the results of which were normal. Pelvic radiographs and magnetic resonance imaging of the lumbosacral spine showed spina bifida occulta, meningocele, and presacral masses consistent with a teratomatous tumor. His symptoms, except for urinary retention, improved dramatically with surgical treatment. The excised specimen contained a teratomatous lesion plus an organized hematoma. Hematoma formation was suspected as the trigger of his sudden-onset right chest and upper back pain.

  12. [Primary glucocorticoid resistance syndrome presenting as pseudo-precocious puberty and galactorrhea].

    Science.gov (United States)

    Xiang, Shu-lin; He, Li-ping; Ran, Xing-wu; Tian, Hao-ming; Li, Xiu-jun; Liang, Jin-zhong

    2008-09-01

    Primary glucocorticoid resistance syndrome (PGRS) is a rare condition characterized by hypercortisolism without Cushing's syndrome. This report describes a 7-year-old boy of PGRS with pseudo-precocious puberty and galactorrhea as the main manifestation. His height was 135 cm and body weight was 31 kg. Pigmentation could be seen in the skin, mammary areola and penis. He had hirsutism, low hair line, coarse voice, Tanner stage 3 pubic hair, penis in adult form, accelerated linear growth, and advanced bone age (13 yr.), but normal (for age) testes. Furthermore, he had mammoplasia and galactorrhea. There were no features of glucocorticoid (GC) excess. Hepatic function was impaired (ALT 1426 IU/L, AST 611 IU/L) with no definite causes. Serum cortisol concentration was 1294 nmol/L, 777 nmol/L, 199.3 nmol/L at 8:00, 16:00 and 24:00 respectively. Plasma adrenocorticotropic hormone (ACTH) was normal or a little higher (43.9-80 ng/L). Urinary-free cortisol (UFC) was normal (55.5-62.4 microg/24 h). Serum estradiol (E2), progesterone (P), testosterone (T), luteinizing hormone (LH) and follicle-stimulating hormone (FSH) were normal. Serum dehydroepiandrosterone sulfate (DHEAS, 60 microg/dL) and serum prolactin (PRL, 58.7-183.9 ng/mL) level were high, urinary dehydroepiandrosterone (DHEA) level was also elevated (0.96-3.2 mg/mL). Gonadotrophin hormone-releasing hormone (GnRH) stimulation test was negative. Serum cortisol responded normally to insulin-induced hypoglycemia. However, serum cortisol and plasma ACTH concentration was suppressed to more than 50% by 0.5 mg dexamethasone (DEX). The diagnosis of PGRS was made. TREATMENT AND FOLLOW-UP: The patient received a treatment of 0.75-1.0 mg/d DEX. Because of galactorrhea, bromocriptine was given by 1.25-3.75 mg/d. After 24 months follow-up, the pigmentation was relieved and galactorrhea disappeared. No advanced development of the external genitalia and breast was found. The acceleration of the bone age was also slowed down. But

  13. Transcatheter Splenic Artery Occlusion for Treatment of Splenic Artery Steal Syndrome After Orthotopic Liver Transplantation

    International Nuclear Information System (INIS)

    Uflacker, Renan; Selby, J. Bayne; Chavin, Kenneth; Rogers, Jeffrey; Baliga, Prabhakar

    2002-01-01

    Purpose: To review some aspects of the problem of splenic artery steal syndrome as cause of ischemia in transplanted livers and treatment by selective splenic artery occlusion. Materials and Methods: Eleven liver transplant patients from a group of 350 patients, nine men and two women,ranging in age from 40 years to 61 years (mean 52 years), presented with biochemical evidences of liver ischemia and failure, ranging from one to 60 days following orthotopic liver transplantation. Diagnosis of splenic artery steal syndrome was suspected by elevated enzymes, Doppler ultrasound and confirmed by celiac angiogram. Patients with confirmed hepatic artery thrombosis before angiography were excluded from the study. Embolization with Gianturco coils was performed. Results: All patients were treated by splenic artery embolization with Gianturco coils. The 11 patients improved clinically within 24 hours of the procedure with significant change in the biochemical and clinical parameters. Followup ranged from one month to two years. One of the 11 patient initially improved, but developed hepatic artery thrombosis within 24 hours of the embolic treatment,requiring surgical repair. Conclusion: Splenicartery steal syndrome following liver transplantation surgery can be diagnosed by celiac angiography, and effectively treated by splenic artery embolization with coils. Embolization is one of the treatments available, it is minimally invasive, and leads to immediate clinical improvement. Hepatic artery thrombosis is a possible complication of the procedure

  14. Coronary Angiography Findings and Its Determinants in Patients Presenting With Acute Coronary Syndrome: A Descriptive Analysis from Asian Population.

    Science.gov (United States)

    Chourasiya, M; Satheesh, S; Selvaraj, R; Jayaraman, B; Pillai, A A

    2017-10-01

    The aim was to study the angiographic profile in patients presented as acute coronary syndrome and its relation with risk factors and comparison between genders. This prospective observational study was performed on total 352 patients of acute coronary syndrome were analyzed for various risk factors, angiographic pattern in Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, South India from January 2015 to July 2016. Mean age of presentation was 52.62±11.63 years. Male were 271(77.0%) and female were 81(23.0%). Majority of patients were STEMI (67.6%) followed by UA (24.4%) and NSTEMI (8%). Smoker was 117(33.3%) patients. Hypertensive were 124(35.2%) of patients and 149(42.3%) were diabetics. Family history of CAD was positive in 45(12.8%). On angiographic evaluation left main reference diameter was lower in females (4.02±0.72) than males (4.07±0.82). LAD was most commonly involved followed by RCA and LCX among all three group of acute coronary syndrome. Left main was least involved (8.3%). In STEMI SVD (40.3%) was most common presentation, after that DVD was seen in 22.3%, TVD in 10.5%, non-obstructive coronary was seen in 16% of patients and normal coronary was seen in 11% of patients. In UA 28%, 22.8%, 13.2%, 15.8%, 20.2% was seen in SVD, DVD, TVD, non-obstructive and normal coronary respectively. Long length coronary lesions (>20mm) were seen in majority in all type of acute coronary syndrome. Coronary lesion length was not associated with presentation acute coronary syndrome and genders. Male were most commonly presented as acute coronary syndrome. STEMI was most common presentation. Diabetic was most prevalent risk factor. SVD was most common angiographic pattern and LAD was most common involved arteries.

  15. The savant syndrome: an extraordinary condition. A synopsis: past, present, future

    OpenAIRE

    Treffert, Darold A.

    2009-01-01

    Savant syndrome is a rare, but extraordinary, condition in which persons with serious mental disabilities, including autistic disorder, have some ‘island of genius’ which stands in marked, incongruous contrast to overall handicap. As many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndrome occurs in other developmental disabilities or in other types of central nervous system injury or disease as well. Whatever the particular ...

  16. Ectopic adrenocorticotropic hormone syndrome presenting as hypokalemic metabolic alkalosis and hypertension

    Directory of Open Access Journals (Sweden)

    Mansoor C Abdulla

    2016-01-01

    Full Text Available The ectopic adrenocorticotropic hormone (ACTH syndrome is an uncommon cause of hypercortisolism, which should be considered in patients with hypokalemic metabolic alkalosis and hypertension in the context of lung neoplasm. We report a 60-year-old male patient with severe hypertension, metabolic alkalosis, and hypokalemia as the initial manifestations of an ACTH-secreting small cell lung carcinoma. Ectopic Cushing's syndrome should always be ruled out in patients with severe hypertension and hypokalemia.

  17. Thrombolytic therapy in pulmonary embolism.

    LENUS (Irish Health Repository)

    Nagi, D

    2010-01-01

    Massive pulmonary embolism carries a high mortality. Potential treatment includes anticoagulation, thrombolytic therapy and embolectomy. We report a case of deep vein thrombosis leading to progressive massive pulmonary embolism despite appropriate anticoagulation, where thrombolysis with IVC filter placement resulted in a successful outcome.

  18. Recurrent nephrogenic adenoma in a 10-year-old boy with prune belly syndrome : a case presentation.

    Science.gov (United States)

    Vemulakonda, Vijaya M; Kopp, Ryan P; Sorensen, Mathew D; Grady, Richard W

    2008-05-01

    Nephrogenic adenoma is a rare benign lesion of the urinary tract that is associated with a history of irritation or injury of the urothelium. Predisposing factors include infection, calculi, surgery, trauma, and renal transplantation. Nephrogenic adenoma commonly presents with lower urinary tract symptoms or hematuria. We present the case of recurrent nephrogenic adenoma in a 10-year-old boy with a history of prune belly syndrome and discuss management of this disease in the pediatric population. To our knowledge this represents the first reported case of recurrent nephrogenic adenoma associated with prune belly syndrome.

  19. Hemorrhagic gianotti-crosti syndrome in a one and half month old infant: An extremely unusual presentation

    Directory of Open Access Journals (Sweden)

    Nilendu Sarma

    2013-01-01

    Full Text Available Gianotti-Crosti syndrome is parainfectious exanthematous disease having unique presentation of small papulovesicular eruptions symmetrically over extensor surface of limbs and face in children. Hemorrhagic lesions are very rare and are always localized. Here, a case of EBV-induced Gianotti-Crosti syndrome with extensive hemorrhagic vesicles in a one and half month old infant, possibly induced by Epstein Barr virus, is reported. Neither the involvement of the disease at this early age nor the extensive hemorrhagic vesicles as the predominant presentation is reported before.

  20. Bringing SASI back: Single session selective arterial secretin injection and transarterial embolization of intrahepatic pancreatic neuroendocrine metastasis in a MEN-1 patient

    Directory of Open Access Journals (Sweden)

    Jawad S. Hussain, MD, MS

    2018-04-01

    Full Text Available SASI (selective arterial secretin injection is a form of ASVS (arterial stimulation and venous sampling used to localize pancreatic gastrinomas. This report aims to review the protocol for SASI and demonstrate its utility in localizing functional and nonfunctional gastrinomas. Even if a patient has a pancreatic mass and a laboratory profile fitting a specific endocrine syndrome, these may or may not be associated as has been previously demonstrated with adrenal vein sampling. We present a case where a patient underwent simultaneous SASI and bland embolization of a hepatic metastasis to facilitate partial pancreatectomy for Zollinger-Ellison syndrome. Keywords: SASI, ASVS, Gastrinoma, Sampling

  1. Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings.

    Science.gov (United States)

    van der Merwe, Pieter Du Toit; Rensburg, Megan A; Haylett, William L; Bardien, Soraya; Davids, M Razeen

    2017-01-26

    Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. The affected individuals and two unaffected first degree relatives were enrolled into the study. Phenotypes were evaluated through history, physical examination and biochemical analysis of blood and urine. Mutation screening was performed by sequencing of SLC12A3, and determining the allele frequencies of the sequence variants found in this family in 117 ethnically matched controls. The index patient, her sister, father and two aunts had a history of severe salt cravings, fatigue and tetanic episodes, leading to consumption of large quantities of salt and vinegar. All affected individuals demonstrated hypokalaemia with renal potassium wasting. Genetic analysis revealed that the pseudo-dominant pattern of inheritance was due to compound heterozygosity with two novel mutations: a S546G substitution in exon 13, and insertion of AGCCCC at c.1930 in exon 16. These variants were present in the five affected individuals, but only one variant each in the unaffected family members. Neither variant was found in any of the controls. The diagnosis of GS was established in five members of a South African family through clinical assessment, biochemical analysis and mutation screening of the SLC12A3 gene, which identified two novel putative pathogenic mutations.

  2. Cerebrovascular Accident Secondary to Paradoxical Embolism Following Arteriovenous Graft Thrombectomy

    OpenAIRE

    Santos, Jolina Pamela; Hamadeh, Zaher; Ansari, Naheed

    2012-01-01

    Thrombectomy is a common procedure performed to declot thrombosed dialysis arteriovenous fistula (AVF) or arteriovenous graft (AVG). Complications associated with access thrombectomy like pulmonary embolism have been reported, but paradoxical embolism is extremely rare. We report a case of a 74-year-old black man with past medical history significant for end-stage renal disease (ESRD), atrial fibrillation on anticoagulation with warfarin, who presented to our hospital with lethargy, aphasia, ...

  3. Nephrogenic diabetes insipidus with idiopathic Fanconi's syndrome in a child who presented as vitamin D resistant rickets.

    Science.gov (United States)

    Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

    2011-10-01

    Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycaemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium, and magnesium. Whereas diabetes insipidus is a disease of collecting tubules and child mainly presents with dehydration and hypernatremia. Though all the cases published till date were secondary to drugs, myeloma, hematological disorders, etc., we are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to of severe hypokalemia induced tubular dysfunction.

  4. Clinical application of partial splenic embolization with PVA particles for hypersplenism in cirrhosis

    International Nuclear Information System (INIS)

    Zhu Kangshun; Shan Hong; Li Zhengran; Meng Xiaochun; Shen Xinying; Huang Mingsheng; Jiang Zaibo; Guan Shouhai

    2004-01-01

    Objective: To evaluate the efficacy and complications of partial splenic embolization (PSE) using polyvinyl alcohol (PVA) particles as embolic material for hypersplenism in cirrhosis. Methods: 50 patients with hypersplenism and cirrhosis were treated with PSE and followed up for 1 years. According to the difference of the embolic material in PSE, 41 patients were divided into 2 groups. Group A: 22 patients with gelfoam cubes as the embolic material of PSE. Group B: 19 patients with PVA as the embolic material of PSE. The follow-up indices included peripheral blood cells counts (white blood cell (WBC), platelet (PLT) and red blood cell (RBC)) and the complications associated with PSE. Results: In group A and group B, WBC and PLT counts kept significantly higher in number than pre-embolization from 2 weeks to 1 years after PSE (P 0.05). RBC counts did not show significant changes after PSE within 1 year follow-up (P>0.05). The most frequent side-effects were abdominal pain and fever. The degree and duration of abdominal pain were higher and longer in group B than those in group A, but the occurrence rate of fever was lower in group B. The occurrence rate of severe complications showed no significant differences for both groups. The increase of embolization degree may aggravate post-embolization side-effects and raise the incidence of complications. Conclusions: PVA may be used as the embolic material of PSE with embolization degree ranging from 50% to 70% which may alleviate hypersplenism in patients with cirrhosis, relieve post-embolization syndrome and decrease the incidence of severe complications

  5. A Case of Devic’s Syndrome Presenting with Tonic Spasm: Response to Levetiracetam Treatment

    Directory of Open Access Journals (Sweden)

    Alev Leventoğlu

    2011-03-01

    Full Text Available Neuromyelitis optica or Devic’s syndrome is a rare autoimmune disorder which is characterized by inflammatory demyelination of the optic nerves and the spinal cord. Clinically, it causes visual loss in one or both eyes, and numbness or paralysis of the arms and legs. Although tonic spasm is the most frequent movement disorder occuring in MS, it has not been definetely described clinical entity for Devic’s syndrome. We hereby describe a case of Devic’s syndrome with tonic spasms treated with levetiracetam as a new approach and discussed the results of the treatment. A 52-year-old woman with Devic’s syndrome with the complaint of painful tonic spasms primarily affecting the abdomen was given levetiracetam therapy. Levetiracetam therapy resulted in a good response in our patient. Levetiracetam can be a new choice for the treatment of painful tonic spasm with Devic’s syndrome. However, more detailed studies are necessary to investigate efficacy of levetiracetam.

  6. Embolization of Spontaneous Hemarthrosis Post Total Knee Replacement

    International Nuclear Information System (INIS)

    Given, M. F.; Smith, P.; Lyon, S. M.; Robertson, D.; Thomson, K. R.

    2008-01-01

    Spontaneous nonhemophiliac hemarthrosis is an unusual entity, which has been little described. We present three cases of spontaneous recurrent hemarthrosis post total knee replacement (TKR) and successful management with embolization. Three male patients were referred to our service for angiography and treatment of recurrent hemarthrosis post TKR. In all three patients antegrade ipsilateral common femoral artery punctures and selective angiography of the geniculate branches were performed with a microcatheter. Abnormal vasculature was noted in all cases. Subsequent embolization was performed with Contour (Boston Scientific, Target Vascular, Cork, Ireland) embolization particles (150-250 and 250-355 μm) in two patients and microcoils in the third (TornadoR; Cook Inc., Bloomington, IN, USA). Technical success was 100%. One patient had a recurrence of symptoms requiring a repeat procedure 6 months later. No complications were encountered. Selective angiography and particle embolization is an effective technique for management of this unusual but problematic postoperative sequelae.

  7. Management of Severe Hemoptysis from Pulmonary Aspergilloma Using Endovascular Embolization

    International Nuclear Information System (INIS)

    Corr, Peter

    2006-01-01

    Purpose. To determine the effectiveness of endovascular embolization as a temporizing measure in the management of severe hemoptysis caused by intracavitary pulmonary aspergilloma. Methods. Patients presenting with hemoptysis, estimated to be more than 300 ml in the preceding 24 hr, in whom a radiological diagnosis of pulmonary aspergilloma was made on chest radiographs and/or computed tomography of the chest were subjected to bronchial and systemic arteriography and embolization using triacryl microspheres. Results. Twelve patients with upper lobe intracavitary aspergillomas were managed with embolization. In 11 patients hemoptysis stopped within 24 hr and with no recurrence over the next 4 weeks. In 1 patient hemoptysis persisted and an upper lobe lobectomy was performed. Conclusion. Embolization of bronchial and systemic arteries is an effective method for treating acute severe hemoptysis from intracavitary aspergillomas, allowing the patient time to recover for definitive surgical management

  8. Percutaneous Mechanical Thrombectomy Treatment of Acute Superior Mesenteric Artery Embolism

    Directory of Open Access Journals (Sweden)

    Z. Zhang

    Full Text Available : Objective/Background: This report presents a superior mesenteric artery (SMA embolism managed by percutaneous mechanical thrombectomy (PMT. Methods: A 61 year old woman diagnosed with SMA embolism was admitted. Emboli were found in the middle and distal segments of the SMA on abdominal computed tomography angiography. Under local anaesthesia, a 6 F Rotarex system was used to remove the emboli via left brachial artery access. Emboli were successfully removed and patency was restored to the SMA and its branches. Results: Post-operatively, the patient's symptoms were significantly relieved. No post-operative complications were observed and no discomfort was documented during follow-up. Conclusion: Endovascular treatment of SMA embolism using PMT is a feasible and alternative option. Keywords: Acute mesenteric ischaemia, Embolism, Endovascular treatment, Percutaneous mechanical thrombectomy, Superior mesenteric artery

  9. Ehlers-danlos syndrome with platelet aggregation defect-presenting as mysterious bleeding disorder

    Directory of Open Access Journals (Sweden)

    Sawhney M

    2003-03-01

    Full Text Available A 7-year-old girl presented with recurrent episodes of petechiae, purpura and ecchymoses since six months of age and recurrent episodes of mild to severe epistaxis since two years of age requiring repeated blood transfusions. In April '99 while being investigated for a massive epistaxis, she was found to have platelet function defect with abnormal aggregation of platelets to ADP, epinephrine, collagen as well as to ristocetin. Further investigations ruled out the possibility of Glanzmann's disorder and von-Willebrand's disease as to its cause. In May 2001 she was referred to the dermatologist for evaluation of subcutaneous tumours, which had developed since the last six months. On clinical evaluation, she was found to be having mild hyperextensibility of the skin, joint hypermobility, atrophic scars over knee, spontaneous bruises over right forearm and left thigh and nontender firm to hard subcutaneous nodules over both wrists, both shoulders, right index finger and dorsum of right foot consistent with a clinical picture of a mild form of Ehlers-Danlos syndrome (EDS. Histopathology of the nodule from left wrist was consistent with molluscoid tumour of EDS and skin histopathology and ultrastructure studies showed thick irregular collagen fibrils. Only other sibling, a five-year-old male also had history of repeated mild to moderate epistaxis and on examination was found to have a milder variant of EDS. Born out of I degree consanguineous marriage of normal parents with mildly affected other sibling, she was diagnosed to be suffering from EDS with autosomal recessive inheritance, most probably EDS type X due to the associated platelet aggregation defect. Only one such family with EDS type X has been reported so far.

  10. Ehlers-danlos syndrome with platelet aggregation defect-presenting as mysterious bleeding disorder

    Directory of Open Access Journals (Sweden)

    Sawhney M

    2003-01-01

    Full Text Available A 7-year-old girl presented with recurrent episodes of petechiae, purpura and ecchymoses since six months of age and recurrent episodes of mild to severe epistaxis since two years of age requiring repeated blood transfusions. In April '99 while being investigated for a massive epistaxis, she was found to have platelet function defect with abnormal aggregation of platelets to ADP, epinephrine, collagen as well as to ristocetin. Further investigations ruled out the possibility of Glanzmann's disorder and von-Willebrand's disease as to its cause. In May 2001 she was referred to the dermatologist for evaluation of subcutaneous tumours, which had developed since the last six months. On clinical evaluation, she was found to be having mild hyperextensibility of the skin, joint hypermobility, atrophic scars over knee, spontaneous bruises over right forearm and left thigh and nontender firm to hard subcutaneous nodules over both wrists, both shoulders, right index finger and dorsum of right foot consistent with a clinical picture of a mild form of Ehlers-Danlos syndrome (EDS. Histopathology of the nodule from left wrist was consistent with molluscoid tumour of EDS and skin histopathology and ultrastructure studies showed thick irregular collagen fibrils. Only other sibling, a five-year-old male also had history of repeated mild to moderate epistaxis and on examination was found to have a milder variant of EDS. Born out of I degree consanguineous marriage of normal parents with mildly affected other sibling, she was diagnosed to be suffering from EDS with autosomal recessive inheritance, most probably EDS type X due to the associated platelet aggregation defect. Only one such family with EDS type X has been reported so far.

  11. Transcatheter arterial embolization as therapy of renal angiomyolipomas: The evolution in 15 years of experience

    International Nuclear Information System (INIS)

    Chatziioannou, A.; Gargas, D.; Malagari, K.; Kornezos, I.; Ioannidis, I.; Primetis, E.; Moschouris, H.; Gouliamos, A.; Mourikis, D.

    2012-01-01

    Objective: This study aims at presenting the evolution of the embolization technique in treating renal angiomyolipomas (AMLs) either diagnosed in patients with acute bleeding or discovered accidentally. Methods: Ten patients with renal AMLs have been through thirteen selective transcatheter arterial embolizations for 15 years. Two patients had tuberous sclerosis complex (TSC) with bilateral tumors and were embolized twice. Four embolic materials were employed: PVA particles, Gianturco coils, microspheres and microcoils. Catheterization was achieved by means of 5F Cobra 2 catheters and coaxial microcatheter systems. Results: On an emergency basis, embolization was a first-line treatment. In one case, surgery was necessary; in two patients, a second embolization was performed. When treatment was preventive, a single embolization proved to be sufficient, as well. There was no significant deterioration of the serum creatinine levels in the post-embolization period. Conclusion: Selective arterial embolization is a rather safe and effective technique to treat AMLs both urgently and preventively. Different embolic materials can be employed. Microspheres and microcatheters stand for new promising materials

  12. Urological symptoms in a subset of patients with urological chronic pelvic pain syndrome and a polysymptomatic, polysyndromic pattern of presentation.

    Science.gov (United States)

    Lai, H Henry; North, Carol S; Andriole, Gerald L; Cupps, Lori; Song, David; Ness, Timothy J; Hong, Barry A

    2014-06-01

    We characterized urological symptoms in a subset of patients with urological chronic pelvic pain syndrome who have a high somatic symptom burden and a wide symptom distribution fitting a polysymptomatic, polysyndromic presentation pattern. A total of 81 patients with urological chronic pelvic pain syndrome enrolled in the National Institute of Diabetes and Digestive and Kidney Diseases MAPP Research Network Study at Washington University in St. Louis and University of Alabama at Birmingham sites. They completed a symptom questionnaire to assess the somatic symptom burden and its distribution, and GUPI (Genitourinary Pain Index) to assess urological chronic pelvic pain syndrome symptoms, impact on quality of life and self-reported treatment seeking behaviors for urological chronic pelvic pain symptoms. The polysymptomatic, polysyndromic symptom pattern was defined by self-report of numerous painful and nonpainful somatic symptoms across many organ systems and by symptom categories on the polysymptomatic, polysyndromic questionnaire. Patients with urological chronic pelvic pain syndrome and the symptom pattern reported more severe genitourinary pain on a Likert scale, more frequent pain in the last week and more widespread pain distribution in the genital and pelvic areas than patients with urological chronic pelvic pain syndrome without the pattern. Patients with the symptom pattern also had significantly higher scores on the GUPI pain subscale, quality of life subscale (worse) and total questionnaire scores than patients without the pattern. Patients with the pattern reported significantly more treatment seeking behavior than others. The polysymptomatic, polysyndromic pattern might be an important phenotypic factor to assess in the evaluation of urological chronic pelvic pain syndrome with clinical and research implications. This may be a distinct clinical subgroup among patients with urological chronic pelvic pain syndrome. Copyright © 2014 American Urological

  13. A rare case of Turner′s syndrome presenting with Mullerian agenesis

    Directory of Open Access Journals (Sweden)

    Suresh Vaddadi

    2013-01-01

    Full Text Available Turner′s syndrome also called as Ullrich Turner′s syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature. Various anomalies result in a constellation of features, of which the most disturbing is primary amenorrhea due to gonadal dysgenesis. Hormone therapy in these patients can often result in successful menstruation, and scope for subsequent pregnancy because of anatomically normal uterus and vagina. Coexisting Mullerian agenesis in these patients can jeopardize the chances of future pregnancy as they have associated structural abnormalities of the uterus and vagina. We report a rare case of middle-aged female with Turner′s syndrome and Mullerian agenesis having absent secondary sexual characters and missing uterus with incompletely formed vagina.

  14. 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.)

  15. 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.)

  16. Micrococcus sedentarius bacteraemia presenting with haemophagocytic syndrome in previously healthy boy.

    Science.gov (United States)

    Kuskonmaz, Baris; Kara, Ates; Ozen, Maide; Cengiz, A Bülent; Ozen, Metehan; Seçmeer, Gülten; Gürgey, Aytemiz

    2006-01-01

    Haemophagocytic syndromes are the clinical manifestation of an increased macrophagic activity with haemophagocytosis. Infection-associated HS was originally described by Risdall in 1979, in viral disease. Since the initial description HS has also been documented in patients with bacterial, parasitic or fungal infections. We describe a case of Micrococcus sedentarius bacteraemia in a previously healthy 10-y-old boy with haemophagocytic syndrome. Species of micrococci are generally considered as non-pathogenic commensals that colonize the skin, mucosae and oropharynx. We report the first case of Microccoccus sedentarius bacteraemia in an immunocompetent host and first case of HS associated with Micrococcus species.

  17. Evans Syndrome Presented with Marginal Zone Lymphoma and Duodenal Neuroendocrine Tumor in an Elderly Woman

    Directory of Open Access Journals (Sweden)

    Daniele D'Ambrosio

    2016-12-01

    Full Text Available Evans syndrome (ES is an autoimmune disorder characterized by simultaneous or sequential development of autoimmune hemolytic anemia, immune thrombocytopenia, and/or neutropenia. ES can be classified as a primary (idiopathic or secondary (associated with an underlying disease syndrome. We report a case of ES in an elderly patient in the presence of multiple trigger factors such as recent influenza vaccine, marginal zone lymphoma, and neuroendocrine tumor G1. Whether this association is casual or causal remains a matter of speculation. It is however necessary to have a thorough work-up in a newly diagnosed ES and a more accurate search of miscellaneous factors especially in elderly patients.

  18. Infarcts presenting with a combination of medial medullary and posterior inferior cerebellar artery syndromes.

    Science.gov (United States)

    Lee, Hyung; Baik, Seung Kug

    2004-09-15

    Cerebellar and medial medullary infarctions are well-known vertebrobasilar stroke syndromes. However, their development in a patient with distal vertebral artery occlusion has not been previously reported. A 49-year-old man with longstanding hypertension suddenly developed vertigo, right-sided Horner syndrome, and left-sided weakness. An MRI of the brain showed acute infarcts in the right inferior cerebellum (posterior inferior cerebellar artery territory) and the right upper medial medulla (direct penetrating branches of vertebral artery). Magnetic resonance angiogram showed occlusion of the distal vertebral artery on the right side. Atherothrombotic occlusion of the distal vertebral artery may cause this unusual combination of vertebrobasilar stroke.

  19. Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).

    NARCIS (Netherlands)

    Janssens, S.; Defoort, P.; Vandenbroecke, C.; Scheffer, H.; Mortier, G.

    2008-01-01

    We report on a fetus with prune belly anomaly presenting at 16 weeks gestation. Clinical evaluation after birth revealed other malformations reminiscent of the EEC syndrome. This diagnosis was also suspected in the mother and finally confirmed in both relatives by identification of a heterozygous

  20. A pseudoleukemic blood differentiation in a 13-year-old child: an extraordinary presentation of Churg-Strauss syndrome

    NARCIS (Netherlands)

    Mutsaers, E. R.; Witteveen, R.; van den Bosch-Ruis, W.; Kuijpers, T. W.; van Houten, M. A.; van den Berg, J. M.

    2013-01-01

    Churg-Strauss syndrome (CSS) is a rare systemic vasculitis of the small-and medium-size vessels. It is mostly seen in elderly patients presenting as de novo asthma, eosinophilia, and vasculitic organ involvement. In childhood, CSS is extremely rare. The course of pediatric CSS is usually severe and

  1. Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.

    Science.gov (United States)

    Kolarova, Hana; Liskova, Petra; Tesarova, Marketa; Kucerova Vidrova, Vendula; Forgac, Martin; Zamecnik, Josef; Hansikova, Hana; Honzik, Tomas

    2016-12-01

    Leber hereditary optic neuropathy (LHON) and mitochondrial encephalopathy, myopathy, lactic acidosis and stroke-like episodes (MELAS) syndromes are mitochondrially inherited disorders characterized by acute visual failure and variable multiorgan system presentation, respectively. A 12-year-old girl with otherwise unremarkable medical history presented with abrupt, painless loss of vision. Over the next few months, she developed moderate sensorineural hearing loss, vertigo, migraines, anhedonia and thyroiditis. Ocular examination confirmed bilateral optic nerve atrophy. Metabolic workup documented elevated cerebrospinal fluid lactate. Initial genetic analyses excluded the three most common LHON mutations. Subsequently, Sanger sequencing of the entire mitochondrial DNA (mtDNA) genome was performed. Whole mtDNA sequencing revealed a pathogenic heteroplasmic mutation m.13046T>C in MTND5 encoding the ND5 subunit of complex I. This particular variant has previously been described in a single case report of MELAS/Leigh syndrome (subacute necrotizing encephalopathy). Based on the constellation of clinical symptoms in our patient, we diagnose the condition as LHON/MELAS overlap syndrome. We describe a unique presentation of LHON/MELAS overlap syndrome resulting from a m.13046T>C mutation in a 12-year-old girl. In patients with sudden vision loss in which three of the most prevalent LHON mitochondrial mutations have been ruled out, molecular genetic examination should be extended to other mtDNA-encoded subunits of MTND5 complex I. Furthermore, atypical clinical presentations must be considered, even in well-described phenotypes.

  2. Bronchiolitis obliterans organising pneumonia syndrome presenting with neutrophilia in bronchoalveolar lavage fluid after breast-conserving therapy

    Science.gov (United States)

    Chiba, Sahoko; Jinta, Torahiko; Chohnabayashi, Naohiko; Fujie, Toshihide; Sumi, Yuki; Inase, Naohiko

    2012-01-01

    A 61-year-old female presented with a dry cough and fever 4 months after tangential radiation therapy (RT) following conserving surgery for breast cancer. Chest radiography and CT demonstrated consolidation with air bronchogram outside the irradiated area. Neutrophil granulocytes were abundant in bronchoalveolar lavage fluid (BALF) (39.6% of total cells), and transbronchial lung biopsy revealed organising pneumonia (OP) histologically. Antibiotic therapy had no effect, but corticosteroid therapy brought about clinical improvement. Her condition was diagnosed as bronchiolitis obliterans OP (BOOP) syndrome. Lymphocytic BALF has been identified as a characteristic of BOOP syndrome induced after RT for breast cancer. The BALF in this case, however, was neutrophilic. In our analysis of differential cell counts in the BALF of 24 patients with BOOP syndrome, the BALF was neutrophilic (>5%) in 16 (76%) cases, and the neutrophilia was severe in some of those patients. PMID:22605699

  3. Bilateral vocal cord paralysis and hypothyroidism as presenting symptoms of Williams-Beuren syndrome: a case report.

    Science.gov (United States)

    Koren, Ilana; Kessel, Ira; Rotschild, Avi; Cohen-Kerem, Raanan

    2015-09-01

    Williams-Beuren syndrome is a rare neurodevelopmental disorder caused by deletion of 1.5-1.8Mb genes on chromosome 7q11.23. The syndrome was first described as a triad of supra-valvular aortic stenosis, mental retardation, and distinctive facial features. Our patient was referred due to audible inspiratory stridor when he was seven days old. Following endoscopy he was diagnosed with bilateral vocal cord paralysis and was eventually intubated due to respiratory de-compensation followed by tracheotomy. On further workup he was diagnosed with hypothyroidism. Genetic workup supported the diagnosis of Williams-Beuren syndrome. We report here a case with an unusual clinical presentation. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  4. POLYCYSTIC OVARY SYNDROME: CLINICAL PRESENTATION IN NORMAL-WEIGHT COMPARED WITH OVERWEIGHT ADOLESCENTS

    Science.gov (United States)

    McManus, Shilpa S.; Levitsky, Lynne L.; Misra, Madhusmita

    2016-01-01

    Objective To characterize polycystic ovary syndrome (PCOS) in adolescents and determine whether a distinct clinical presentation differentiates normal-weight (NW) from overweight (OW) PCOS. Methods Retrospective chart review of patients seen in a tertiary care center from 1998-2008 who met the National Institutes of Health and/or Rotterdam criteria for PCOS (N = 211; NW = 43, OW = 168). We collected data on clinical features, biochemical markers, and ultrasound findings. Results Patient age ranged from 11.3 to 20.3 years (mean, 15.7 ± 1.7 years), and body mass index (BMI) from 17.4 to 64.2 kg/m2 (mean, 31.7 ± 7.7 kg/m2). Seventy-one percent of patients were Caucasian, 85% had irregular menses, 69% reported hirsutism, 18% had moderate to severe acne, 91% had a high free androgen index (FAI), and 8% had abnormal thyroid-stimulating hormone (TSH) levels. The BMI-standard deviation (SD) score was 0.1 ± 0.5 in NW and 3.4 ± 1.8 in OW girls. NW girls were older at diagnosis (16.4 ± 1.4 years vs. 15.5 ± 1.7 years; P = .0006) than OW girls, less likely to have a family history of obesity (22% vs. 65%; P<.0001), and less likely to have acanthosis nigricans (11% vs. 68%; P<.0001). NW girls were more likely to have polycystic ovaries on ultrasound (88% vs. 52%; P = .01) and a lower FAI (7.3 ± 4.5 vs. 17.4 ± 12.9; P<.0001). The BMI-SD score was negatively associated with sex hormone binding globulin (rs = −0.52; P<.0001) and positively associated with FAI (rs = 0.42; P<.0001). Conclusion NW girls are more likely to be older at diagnosis and have polycystic ovaries. Other differences in presentation between groups were attributable to differences in weight. NW PCOS is likely part of a continuous spectrum of clinical PCOS rather than a distinct entity. PMID:23816935

  5. Preoperative embolization of facial angiomas

    International Nuclear Information System (INIS)

    Causmano, F.; Bruschi, G.; De Donatis, M.; Piazza, P.; Bassi, P.

    1988-01-01

    Preoperative embolization was performed on 27 patients with facial angiomas supplied by the external carotid branches. Sixteen were males and 11 females; 13 of these angiomas were high-flow arterio-venous (A-V), 14 were low-flow capillary malformations. Fourteen patients underwent surgical removal after preoperative embolization; in this group embolization was carried out with Spongel in 3 cases and with Lyodura in 11 cases. In 12 of these patients the last angiographic examination was performed 3-6 years later: angiography evidenced no recurrence in 8 cases (67%), while in 3 cases (25%) there was capillary residual angioma of negligible size. Treatment was unsuccessful in one patient only, due to the large recurrent A-V angioma. Thirteen patients underwent embolization only, which was carried out with Lyodura in 10 cases, and with Ivalon in 3 cases. On 12 of these patients the last angiographic study was performed 2-14 months later: there was recurrent A-V angioma in 5 patients (42%), who underwent a subsequent embolization; angiography evidenced no recurrence in the other 7 patients (58%). In both series, the best results were obtained in the patients with low-flow capillary angiomas. Embolization and subsequent surgical removal are the treatment of choice for facial angiomas; embolization alone is useful in the management of surgically inacessible vascular malformations, and it can be the only treatment in patients with small low-flow angiomas when distal occlusion of the feeding vessel with Lyodura or Ivalon particles is performed

  6. Superior Thyroid Artery Lesion After US-Guided Chemical Parathyroidectomy: Angiographic Diagnosis and Treatment by Embolization

    International Nuclear Information System (INIS)

    Perona, Franco; Barile, Antonio; Oliveri, Michele; Quadri, Piergiorgio; Ferro, Carlo

    1999-01-01

    A 71-year-old woman presented with a life-threatening thyroid hemorrhage after US-guided chemical parathyroidectomy. The diagnosis was made by angiography followed by immediate embolization of a pseudoaneurysm of the left superior thyroid artery. Embolization controlled the hemorrhage, obviating the need for surgery. The patient made a full recovery with no evidence of further hemorrhage. Pseudoaneurysm of the superior thyroid artery is a rare cause of hemorrhage and percutaneous embolization is an effective method of treatment

  7. Acute Embolic Myocardial Infarction in a Patient with Paroxysmal Atrial Fibrillation Receiving Direct-current Cardioversion

    Directory of Open Access Journals (Sweden)

    Tung-Chao Lin

    2009-03-01

    Full Text Available Coronary embolism with acute myocardial infarction (MI following direct-current (DC cardioversion of atrial fibrillation (AF has rarely been reported. We present the case of a 34-year-old female with severe aortic regurgitation and highly symptomatic paroxysmal AF. Acute embolic MI occurred 4 days after DC cardioversion of AF, although there was no left atrial thrombus detected before this procedure. Insufficient anticoagulation therapy during the post-cardioversion period was the cause, leading to embolic MI.

  8. The prevalence of post-abortion syndrome in patients presenting at ...

    African Journals Online (AJOL)

    Post-abortion syndrome is a type of post-traumatic disorder and is characterised by a stressor (the abortion), the event being re-experienced, avoidance and/or numbing of general responsiveness, and physical symptoms such as insomnia and depression. The question was asked whether the patients at Kalafong Hospital ...

  9. Korsakoff Syndrome in Non-alcoholic Psychiatric Patients. Variable Cognitive Presentation and Impaired Frontotemporal Connectivity

    Directory of Open Access Journals (Sweden)

    Georgios Nikolakaros

    2018-05-01

    Full Text Available Background: Non-alcoholic Wernicke's encephalopathy and Korsakoff syndrome are greatly underdiagnosed. There are very few reported cases of neuropsychologically documented non-alcoholic Korsakoff syndrome, and diffusion tensor imaging (DTI data are scarce.Methods: We report clinical characteristics and neuropsychological as well as radiological findings from three psychiatric patients (one woman and two men with a history of probable undiagnosed non-alcoholic Wernicke's encephalopathy and subsequent chronic memory problems.Results: All patients had abnormal neuropsychological test results, predominantly in memory. Thus, the neuropsychological findings were compatible with Korsakoff syndrome. However, the neuropsychological findings were not uniform. The impairment of delayed verbal memory of the first patient was evident only when the results of the memory tests were compared to her general cognitive level. In addition, the logical memory test and the verbal working memory test were abnormal, but the word list memory test was normal. The second patient had impaired attention and psychomotor speed in addition to impaired memory. In the third patient, the word list memory test was abnormal, but the logical memory test was normal. All patients had intrusions in the neuropsychological examination. Executive functions were preserved, except for planning and foresight, which were impaired in two patients. Conventional MRI examination was normal. DTI showed reduced fractional anisotropy values in the uncinate fasciculus in two patients, and in the corpus callosum and in the subgenual cingulum in one patient.Conclusions: Non-alcoholic Korsakoff syndrome can have diverse neuropsychological findings. This may partly explain its marked underdiagnosis. Therefore, a strong index of suspicion is needed. The presence of intrusions in the neuropsychological examination supports the diagnosis. Damage in frontotemporal white matter tracts, particularly in the

  10. Korsakoff Syndrome in Non-alcoholic Psychiatric Patients. Variable Cognitive Presentation and Impaired Frontotemporal Connectivity.

    Science.gov (United States)

    Nikolakaros, Georgios; Kurki, Timo; Paju, Janina; Papageorgiou, Sokratis G; Vataja, Risto; Ilonen, Tuula

    2018-01-01

    Background: Non-alcoholic Wernicke's encephalopathy and Korsakoff syndrome are greatly underdiagnosed. There are very few reported cases of neuropsychologically documented non-alcoholic Korsakoff syndrome, and diffusion tensor imaging (DTI) data are scarce. Methods: We report clinical characteristics and neuropsychological as well as radiological findings from three psychiatric patients (one woman and two men) with a history of probable undiagnosed non-alcoholic Wernicke's encephalopathy and subsequent chronic memory problems. Results: All patients had abnormal neuropsychological test results, predominantly in memory. Thus, the neuropsychological findings were compatible with Korsakoff syndrome. However, the neuropsychological findings were not uniform. The impairment of delayed verbal memory of the first patient was evident only when the results of the memory tests were compared to her general cognitive level. In addition, the logical memory test and the verbal working memory test were abnormal, but the word list memory test was normal. The second patient had impaired attention and psychomotor speed in addition to impaired memory. In the third patient, the word list memory test was abnormal, but the logical memory test was normal. All patients had intrusions in the neuropsychological examination. Executive functions were preserved, except for planning and foresight, which were impaired in two patients. Conventional MRI examination was normal. DTI showed reduced fractional anisotropy values in the uncinate fasciculus in two patients, and in the corpus callosum and in the subgenual cingulum in one patient. Conclusions: Non-alcoholic Korsakoff syndrome can have diverse neuropsychological findings. This may partly explain its marked underdiagnosis. Therefore, a strong index of suspicion is needed. The presence of intrusions in the neuropsychological examination supports the diagnosis. Damage in frontotemporal white matter tracts, particularly in the uncinate

  11. Liver Regeneration After Portal Vein Embolization Using Absorbable and Permanent Embolization Materials in a Rabbit Model

    NARCIS (Netherlands)

    van den Esschert, Jacomina W.; van Lienden, Krijn P.; Alles, Lindy K.; van Wijk, Albert C.; Heger, Michal; Roelofs, Joris J.; van Gulik, Thomas M.

    2012-01-01

    Objective: To compare the safety and hypertrophy response after portal vein embolization (PVE) using 2 absorbable and 3 permanent embolization materials. Background: Portal vein embolization is used to increase future remnant liver volume preoperatively. Application of temporary, absorbable

  12. Treatment of Unresectable Primary and Metastatic Liver Cancer with Yttrium-90 Microspheres (TheraSphere (registered) ): Assessment of Hepatic Arterial Embolization

    International Nuclear Information System (INIS)

    Sato, Kent; Lewandowski, Robert J.; Bui, James T.; Omary, Reed; Hunter, Russell D.; Kulik, Laura; Mulcahy, Mary; Liu, David; Chrisman, Howard; Resnick, Scott; Nemcek, Albert A.; Vogelzang, Robert; Salem, Riad

    2006-01-01

    In Canada and Europe, yttrium-90 microspheres (TheraSphere); MDS Nordion, Ottawa, Canada) are a primary treatment option for primary and secondary hepatic malignancies. We present data from 30 patients with hepatocellular carcinoma (HCC) and metastatic liver disease treated with TheraSphere from a single academic institution to evaluate the angiographically evident embolization that follows treatment. Seven interventional radiologists from one treatment center compared pretreatment and posttreatment angiograms. The reviewers were blinded to the timing of the studies. The incidence of postembolization syndrome (PES) was determined as well as objective tumor response rates by the World Health Organization (WHO), Response Evaluation Criteria in Solid Tumors (RECIST), and European Association for the Study of the Liver (EASL) criteria. There were 420 independent angiographic observations that were assessed using the chi-squared statistic. The pretreatment and posttreatment angiograms could not be correctly identified on average more than 43% of the time (p = 0.0004). The postprocedure arterial patency rate was 100%. The objective tumor response rates for all patients were 24%, 31%, and 72% for WHO, RECIST, and EASL criteria, respectively. All of the patients tolerated the procedure without complications and were treated on an outpatient basis, and four patients had evidence of PES. This treatment method does not result in macroscopic embolization of the hepatic arteries, thereby maintaining hepatic tissue perfusion. These data support the principle that the favorable response rates reported with TheraSphere are likely due to radiation and microscopic embolization rather than flow-related macroscopic embolization and ischemia

  13. Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate.

    Science.gov (United States)

    Abdelgadir, Ibtihal Siddiq; Elgharbawy, Fawzia; Salameh, Khalil Mohamad; Juma, Baha Eldin

    2017-11-14

    Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis.We are presenting this 20-day-old girl who had an antenatal history of polyhydramnios. She developed persistent non-bilious vomiting that was associated with constipation soon after birth. She presented with failure to thrive and features suggestive of intestinal obstruction. On the initial evaluation, she was noted to have hypokalaemic, hyponatraemic metabolic alkalosis. The initial work-up was done to exclude surgical and renal causes of her presentation, and the diagnosis was confirmed by gene analysis to be type III-classic Bartter syndrome. She was closely monitored for her growth and development with the appropriate salt replacement therapy. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  14. Concurrent Presentation of Burning Mouth Syndrome and Globus Pharyngis in Enugu, Nigeria: A Ten-year Clinical Evaluation.

    Science.gov (United States)

    Chukwuneke, Felix; Akpe, James; Okoye, Linda; Ekwueme, Christian; Obiakor, Anthonia; Amobi, Emmanuel; Egbunike, Doris

    2014-01-01

    To review 22 patients with globus pharyngis among a group of 39 patients who presented with burning mouth syndrome and to highlight the clinical presentation and treatment outcome of these oropharyngeal symptoms, often ignored by practicing oral surgeons. We carried out a retrospective review of 39 patients with burning mouth syndrome seen at oral surgery units of three specialist hospitals in Enugu, Nigeria between 2001 and 2010. The focus was on the 22 of these patients with burning mouth syndrome and globus pharyngis (the persistent sensation of having phlegm, a pill or some other sort of obstruction in the throat when there is none). Relevant information included patients' oral habits and dental status, past medical history, sociodemographic data, onset of symptoms and treatment outcome. Amongst the 22 patients, 8 (36.4%) were males while 14 (63.6%) were females, giving a male to female ratio of 1:1.8. Of the 8 male patients, 3 (37.5%) were retrenched workers, 2 (25%) were drug addicts, 2 (25%) had a history of psychiatric problems and 1 (12.5%) had post-radiation therapy due to diagnosis of adenocystic carcinoma. Amongst the 14 female patients, 6 (42.8%) were divorcees, 3 (21.4%) were unemployed and unmarried, 2 (14.3%) had menopausal problems, 2 (14.3%) had dental prostheses and 1 (7.2%) had a history of mental disorder. Globus pharyngis can present at the same time in some individuals with burning mouth syndrome. The emotional aetiological factor in this unusual ailment calls for proper examinations and a multidisciplinary approach in the management of patients who presented with burning mouth syndrome, especially with a history of depression.

  15. Inversion of chromosome 7q22 and q36 as a sole abnormality presenting in myelodysplastic syndrome: a case report.

    Science.gov (United States)

    Kaneko, Hiroto; Shimura, Kazuho; Kuwahara, Saeko; Ohshiro, Muneo; Tsutsumi, Yasuhiko; Iwai, Toshiki; Horiike, Shigeo; Yokota, Shouhei; Ohkawara, Yasuo; Taniwaki, Masafumi

    2014-08-05

    Deletions of chromosome 7 are often detected in myelodysplastic syndrome. The most commonly deleted segments are clustered at band 7q22. A critical gene is therefore suggested to be located in this region. We report a patient with myelodysplastic syndrome whose marrow cells carried an inversion of 7q22 and q36 as a sole karyotypic abnormality. How this extremely rare chromosomal aberration contributes to the pathogenesis of myelodysplastic syndrome should be clarified by accumulating clinical data of such cases. A 74-year-old Japanese man presented with pancytopenia incidentally detected by routine medical check-up. His complete blood cell counts revealed that his white blood cells had decreased to 2100/mm3, neutrophils 940/mm3, red blood cells 320×104/mm3, hemoglobin 11.1g/dL, hematocrit 33.1%, and platelets 12.6×104/mm3. Bone marrow examination showed normal cellularity with nucleated cells of 9.4×104/mm3. The proportion of blasts was 4%. A morphological examination showed only basophilic stippling of erythroblasts which was seen as dysplasia. According to World Health Organization classification, the diagnosis was myelodysplastic syndrome-u. Karyotypic analysis showed 46,XY,inv(7)(q22q36) in all of 20 metaphases examined. Additional analysis revealed the karyotype of his lymphocytes was 46,XY. He is asymptomatic and cytopenia has slowly progressed. To the best of our knowledge, this karyotype from a clinical sample of de novo malignancies has never been documented although the identical karyotype from secondary myelodysplastic syndrome was reported. Despite the extremely low frequency, inversion of 7q22 appears to play a crucial role for myelodysplastic syndrome in this patient.

  16. A Rare Presentation of the Syndrome of Inappropriate Antidiuretic Hormone in a 12-Year-Old Girl as the Initial Presentation of an Immature Ovarian Teratoma.

    Science.gov (United States)

    Iqbal, Anoop Mohamed; Schwenk, W Frederick

    2018-02-01

    Immature ovarian teratoma is very rare in childhood. We report on a 12-year-old girl with immature ovarian teratoma who presented initially with syndrome of inappropriate antidiuretic hormone. A 12-year-old girl presented with acute abdomen and distention. Initial laboratory tests showed hyponatremia (sodium, 123 mmol/L), that did not respond to fluid management. Computed tomography imaging showed a 15 cm × 9 cm × 20 cm mass in the right ovary with multifocal internal fat, and dystrophic calcifications. She underwent exploratory laparotomy with a right salpingo-oophorectomy, omentectomy, and peritoneal stripping. The pathology revealed metastatic immature teratoma. Hyponatremia resolved soon after the surgery. Although a rare diagnosis, immature ovarian teratoma must be considered in a girl who presents with abdominal mass and hyponatremia. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  17. Severe chronic bronchiolitis as the presenting feature of primary Sjögren's syndrome.

    Science.gov (United States)

    Borie, Raphael; Schneider, Sophie; Debray, Marie-Pierre; Adle-Biasssette, Homa; Danel, Claire; Bergeron, Anne; Mariette, Xavier; Aubier, Michel; Papo, Thomas; Crestani, Bruno

    2011-01-01

    Sjögren's syndrome is a frequent auto-immune disorder with a pulmonary location in almost 10% of the patients. Although bronchial involvement is very common, most patients only complain of cough and this involvement rarely results in severe symptoms or chronic respiratory failure are rarely observed. We describe here 5 patients with severe chronic bronchiolitis revealing primary Sjögren's syndrome. The lung involvement resulted in chronic bronchorrhea, recurrent sinusitis, diffuse bronchiolar nodules with bronchiectasis on the CT scan, and a severe obstructive airway pattern on lung function tests. Improvement was obtained in 4 patients with combination of inhaled corticosteroids, inhaled long acting beta-agonists, and a low dose of erythromycin. Copyright © 2010 Elsevier Ltd. All rights reserved.

  18. The lumbar facet arthrosis syndrome. Clinical presentation and articular surface changes.

    Science.gov (United States)

    Eisenstein, S M; Parry, C R

    1987-01-01

    We describe a lumbar facet syndrome in which disabling symptoms are associated with normal or near-normal plain radiographs. Local spinal fusion relieved symptoms in 12 patients; the excised facet joint surfaces showed some of the histological changes seen in chondromalacia patellae and in osteoarthritis of other large joints. The most frequent change was focal full-thickness cartilage necrosis or loss of cartilage with exposure of subchondral bone, but osteophyte formation was remarkably absent in all specimens. We suggest that there are both clinical and histological similarities between the facet arthrosis syndrome and chondromalacia patellae. Facet arthrosis may be a relatively important cause of intractable back pain in young and middle-aged adults.

  19. Polycystic ovary syndrome and insulin: our understanding in the past, present and future.

    Science.gov (United States)

    Mayer, Stéphanie B; Evans, William S; Nestler, John E

    2015-03-01

    Insulin resistance is prevalent in women with polycystic ovary syndrome (PCOS), and plays a critical pathophysiologic role in both the metabolic and reproductive complications of PCOS. This review focuses on the contribution of insulin resistance to anovulation in PCOS and to the high risk for Type 2 diabetes, metabolic syndrome and early cardiovasular disease. Key points for clinicians emphasized by this review are the following: PCOS is a clinical diagnosis and alternative diagnoses must be excluded; PCOS carries an inherent risk of insulin resistance and, hence, metabolic consequences for which women with PCOS should be screened regardless of BMI or degree of obesity; and PCOS is associated with infertility and this should be discussed early on in care of women diagnosed with PCOS, recognizing that there are several possible strategies to address infertility in women with PCOS, each with its own risks and benefits.

  20. Embolization for gastrointestinal hemorrhages

    International Nuclear Information System (INIS)

    Kraemer, S.C.; Goerich, J.; Rilinger, N.; Aschoff, A.J.; Vogel, J.; Brambs, H.J.; Siech, M.

    2000-01-01

    Retrospective evaluation of interventional embolization therapy in the treatment of gastrointestinal hemorrhage over a long-term observation period from 1989 to 1997. Included in the study were 35 patients (age range 18-89 years) with gastrointestinal bleeding (GI) referred for radiological intervention either primarily or following unsuccessful endoscopy or surgery. Sources of GI bleeding included gastric and duodenal ulcers (n = 7), diverticula (n = 3), erosion of the intestinal wall secondary to malignancy (n = 6), vascular malformations (n = 4), and hemorrhoids (n = 2), as well as from postoperative (n = 6), posttraumatic (n = 2), postinflammatory (n = 4) or unknown (n = 1) causes. Ethibloc (12 cases) or metal coils (14 cases) were predominantly used as embolisates. In addition, combinations of tissue adhesive and gelfoam particles and of coils and Ethibloc were used (six cases). Finally, polyvinyl alcohol particles, a coated stent, and an arterial wire dissection were utilized in one case each. Bleeding was stopped completely in 29 of 35 cases (83 %). In one case (3 %) the source of bleeding was recognized but the corresponding vessel could not be catheterized. In five other cases (14 %) there was partial success with reduced, though still persistent, bleeding. The rate of complications was 14 %, including four instances of intestinal ischemia with fatal outcome in the first years, and, later, one partial infarction of the spleen without serious consequences. Gastrointestinal hemorrhage can be controlled in a high percentage of patients, including the seriously ill and those who had previously undergone surgery, with the use of minimally invasive interventional techniques. The availability of minicoils instead of fluid embolization agents has reduced the risk of serious complications. (orig.)