WorldWideScience

Sample records for syndrome literature review

  1. Tourette syndrome: Review of literature

    Directory of Open Access Journals (Sweden)

    Teixeira, Larissa Lane Cardoso

    2011-10-01

    Full Text Available Introduction: Tourette Syndrome (TS was described for the first time in 1825, and it is a neuropsychiatry disease, initially begins in childhood, affects more males, characterized by remarkable social and psychological commitment, impacting the lives of patients and family. Until recently, this disease were considered a rare condition, but current studies show that the prevalence rate may vary in 1% to 2,9% in a few groups. Objective: Perform a review of literature over the main aspects related to Tourette syndrome. Data synthesis: The TS is a genetic disorder, associated with neuroanatomical and neurophysiological alterations, characterized by compulsive phenomenon, whose etiology is still unknown. The clinical profile is composed, mostly, by motor tics and vocal tics, that which are divided in simple and complex. Its association with Obssessive Compulsive Disorder and Attention Deficit Hyperactivity Disorder is very commom. The diagnosis is mainly clinical and do not exist. Until now, there is no specific laboratory test that confirm this pathology. The treatment is based mainly on psychological theory. However when there is need for the use of drugs, the most widely used are the antagonists of dopamine receptors. Conclusion: The TS causes many damages as psychosocial and educational for the individual and the family. However, the diagnosis and the early treatment are able to minimize or cancel this damages. This way, knowing the general aspects that guide the TS is of utmost importance to preserve the quality of life for the patients with the disease.

  2. Restless legs syndrome: literature review

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    Emmanouil Symvoulakis

    Full Text Available Restless legs syndrome is a distressing condition, with negative effects on sleep and daytime activities that affect personal, family and occupational life. The overall impact of restless legs syndrome on quality of life is comparable to that of chronic and frustrating conditions such as depression and diabetes. Misdiagnosis and inappropriate treatment may increase patients' suffering in terms of uncertainty, overuse or misuse of care services and lack of trust. Presenting a synthesis of the main topics in the literature on restless legs syndrome facilitates for a better understanding and its management in primary care settings.

  3. [Rapunzel syndrome: case report and literature review].

    Science.gov (United States)

    Curioso Vilchez, Walter H; Rivera Vega, Juan; Curioso Abriojo, Walter I

    2002-01-01

    The Rapunzel syndrome is a rare form of gastric trichobezoar crossing the pylorus and extending throughout the bowel. The case of a 22-year-old Peruvian woman is reported. This is the thirteenth patient with Rapunzel syndrome reported in the literature. The epidemiology, clinical manifestations, diagnosis and treatment are briefly reviewed.

  4. Ortner's syndrome: case series and literature review.

    Science.gov (United States)

    Subramaniam, Vijayalakshmi; Herle, Adarsha; Mohammed, Navisha; Thahir, Muhammad

    2011-01-01

    More than a century ago, Ortner described a case of cardiovocal syndrome wherein he attributed a case of left vocal fold immobility to compression of the recurrent laryngeal nerve by a dilated left atrium in a patient with mitral valve stenosis. Since then, the term Ortner's syndrome has come to encompass any nonmalignant, cardiac, intrathoracic process that results in embarrassment of either recurrent laryngeal nerve-usually by stretching, pulling, or compression; and causes vocal fold paralysis. Not surprisingly, the left recurrent laryngeal nerve, with its longer course around the aortic arch, is more frequently involved than the right nerve, which passes around the subclavian artery. To discuss the pathogenesis of hoarseness resulting from cardiovascular disorders involving the recurrent laryngeal nerve along with the findings of literature review. This paper reports a series of four cases of Ortner's syndrome occurring due to different causes. Case study. Ortner's syndrome could be a cause of hoarseness of voice in patients with cardiovascular diseases. Although hoarseness of voice is frequently encountered in the Otolaryngology outpatient department, cardiovascular- related hoarseness is an unusual presentation. Indirect laryngoscopy should be routinely performed in all cases of heart disease.

  5. Rett Syndrome: A Comprehensive Review of the Literature.

    Science.gov (United States)

    Perry, Adrienne

    1991-01-01

    This nontechnical review of the literature on Rett Syndrome, a developmental disability found only in females, examines the syndrome's history, diagnostic criteria, clinical stages, incidence, differential diagnosis, etiology, genetics, treatment approaches, and prognosis. (Author/DB)

  6. The Hyperimmunoglobulinemia E Syndromes: A Literature Review

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    Slavica Hristomanova

    2013-12-01

    Full Text Available The hyper-immunoglobulin E (IgE syndromes (HIES are primary immunodeficiencies characterized by the recurrent staphylococcal abscesses, recurrent pneumonia and highly elevated serum IgE levels. There are two forms of HIES: a dominant form (AD-HIES and a recessive form (AR-HIES. AD form of HIES is caused by mutations in STAT3 and the AR form is caused by mutations in DOCK8 and TYK2. These syndromes have different clinical presentations and outcomes. AD-HIES is a multisystem disorder that includes abnormalities of the skin, lungs, musculo-skeletal system and dental system. In contrast, these symptoms in patients with AR-HIES are missing. AR-HIES patients have severe viral infections and may develop neurological complications. This review article discusses the clinical presentation and laboratory findings in both forms of HIES, as well as the establishment of diagnose, inheritance, molecular genetics and immunological abnormalities of HIES.

  7. Cockayne's syndrome: a case report. Literature review.

    Science.gov (United States)

    Arenas-Sordo, María de la Luz; Hernández-Zamora, Edgar; Montoya-Pérez, Luis Alberto; Aldape-Barrios, Beatriz Catalina

    2006-05-01

    Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. Patients with this syndrome present failure to thrive, short stature, premature aging, neurological alterations, photosensitivity, delayed eruption of the primary teeth, congenitally absent of some permanent teeth, partial macrodontia, atrophy of the alveolar process and caries. It could be caused by two gene mutations, CNK1 (ERCC8) and ERCC6, located on the 5 and 10 chromosomes respectively, causing two variations of Cockayne s syndrome, CS-A, secondary to a ERCC8 mutation and CS-B with ERCC6 mutation, the last one causes hypersensitivity to the ultraviolet light secondary to a DNA repair defect. The syndrome is also associated with mutations of the XPB, XPD and XPG genes. In this report we present a 9 year and 4 month old patient. He had a height of 94 cm, weight of 8.6 Kg, head circumference of 42 cm. and blood pressure of 120/80. Cachectic habitus, kyphosis, microcephaly, oval face, sunken eyes, a thin and beaklike nose, lack of subcutaneous facial fat (especially in the middle of the face), and large ears give the patient a birdlike appearance. It is notorious the photosensitivity in all the sun-exposed skin. The patient also displays delayed psychomotor skills and mental retardation. In the oral cavity we found deficient hygiene, gingivitis, cervical caries, enamel hipoplasia, abnormal position of the upper and inferior lateral incisors, macrodontia of the upper central teeth, the left one presented a caries. In the x-ray we observed congenital absence of 14, 23 and 24 teeth and mandibular hipoplasia. The aim of this review is to show the dentistry community the characteristics of the Cockayne s syndrome by means of a clinical case.

  8. The growing teratoma syndrome: Current review of the literature

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    Vladislav Gorbatiy

    2009-01-01

    Full Text Available Growing teratoma syndrome (GTS is a rare condition among patients with non-seminomatous germ cell tumors who present with enlarging metastatic masses during appropriate systemic chemotherapy and in the context of normalized serum markers. This article reviews the current pertinent scientific literature on the diagnosis and management of GTS.

  9. Thyroid dysfunction in children with Down syndrome: a literature review.

    Science.gov (United States)

    King, K; O'Gorman, C; Gallagher, S

    2014-03-01

    This article is an evidence-based review of thyroid disease in children with Down syndrome, including a comparison between various professional guidelines for the management of thyroid disease in children with Down syndrome. Aspects of thyroid disease which are discussed include: congenital hypothyroidism; autoimmune thyroid disease; subclinical hypothyroidism; and hyperthyroidism. The national professional guidelines of Ireland, the United Kingdom, the United States of America, Australia and Canada are reviewed and compared. A literature search was conducted using Medline and PubMed. Search terms included 'Down syndrome' and 'thyroid disease', 'hypothyroidism', 'hyperthyroidism', 'subclinical hypothyroidism'. Eighty-nine articles were retrieved and reviewed for inclusion. The guidelines on the medical management of children with Down syndrome of five expert groups have also been retrieved and reviewed for this discussion. These various guidelines offer largely similar advice regarding frequency of thyroid function tests, with only Ireland and the UK testing less frequently than annually. Only the United Kingdom and Irish Down Syndrome Medical Interest Group guidelines suggest testing for thyroid antibodies at every thyroid screen. None of the guidelines offer suggestions on the optimal course of action to pursue after the discovery of subclinical hypothyroidism. In conclusion, more evidence is required regarding the optimal course of treatment for subclinical hypothyroidism. Such evidence may be best obtained by conducting a prospective randomized control trial.

  10. Serotonin Syndrome in Tapentadol Literature: Systematic Review of Original Research.

    Science.gov (United States)

    Gressler, Laura E; Hammond, Drayton A; Painter, Jacob T

    The potential association between serotonin syndrome and tapentadol is not well described in the literature. This study aimed to review the literature and identify methodological issues that could lead to inaccurately reported rates of serotonin syndrome associated with tapentadol use. A systematic review of English articles using MEDLINE, Cochrane Controlled Trials Register, and Scopus was performed. Additional studies were identified by cross-referencing article bibliographies. Original research that examined the safety of tapentadol in patients with nonconfounding indications were examined. In total, 22 studies met inclusion criteria. There were 13 randomized clinical trials, 7 open-label trials, and 2 observational studies. All studies either did not mention whether serotonergic medication use was prohibited or disallowed use. Frequently reported adverse events were nausea, diarrhea, constipation, fatigue, vomiting, and somnolence. No studies reported serotonin syndrome development. No included trials differentiated between the development of adverse events in patients taking serotonergic drugs and those who were not. This differentiation is necessary to evaluate the increased risk of adverse events in patients prescribed tapentadol concomitantly with other serotonergic medications. Therefore, the current tapentadol literature has important limitations that prevent the adequate characterization of the potential association between tapentadol and serotonin syndrome.

  11. Definitions of traumatic conus medullaris and cauda equina syndrome: a systematic literature review

    NARCIS (Netherlands)

    Brouwers, E.M.; Meent, H. van de; Curt, A.; Starremans, B.; Hosman, A.J.; Bartels, R.H.M.A.

    2017-01-01

    STUDY DESIGN: A systematic review. OBJECTIVES: Conus medullaris syndrome (CMS) and cauda equina syndrome (CES) are well-known neurological entities. It is assumed that these syndromes are different regarding neurological and functional prognosis. However, literature concerning spinal trauma is

  12. Ulnar hammer syndrome: a systematic review of the literature.

    Science.gov (United States)

    Vartija, Larisa; Cheung, Kevin; Kaur, Manraj; Coroneos, Christopher James; Thoma, Achilleas

    2013-11-01

    Ulnar hammer syndrome is an uncommon form of arterial insufficiency. Many treatments have been described, and debate continues about the best option. The goal of this systematic review was to determine whether ulnar hammer syndrome has an occupational association, to identify the most reliable diagnostic test, and to determine the best treatment modality. A comprehensive literature search was conducted using the Cochrane Database of Systematic Reviews, the Cochrane Central Register of Controlled Trials, MEDLINE, CINAHL, and EMBASE. Data from articles meeting inclusion criteria were collected in duplicate. Methodological quality of studies was assessed using the Methodological Index for Nonrandomized Studies scale. Thirty studies were included in the systematic review. No randomized controlled trials were identified. There is low-quality evidence suggestive of an association between exposure to repetitive hand trauma and vibration and ulnar hammer syndrome. Various diagnostic investigations were used, but few were compared, making it difficult to determine the most reliable diagnostic test. Numerous nonoperative and operative treatments were reported. With nonoperative treatment, 12 percent had complete resolution and 70 percent had partial resolution of their symptoms. Of patients treated operatively, 42.5 percent had complete resolution and 42.5 percent had partial resolution of their symptoms. The heterogeneity in study design and outcome measures limits definitive conclusions about occupational association, best diagnostic test, and treatment for ulnar hammer syndrome. However, there is low-quality evidence that suggests that most patients with ulnar hammer syndrome will have partial relief of symptoms with nonoperative treatment, and operative treatment results in complete or partial resolution of symptoms in the majority of cases. Therapeutic, IV.

  13. Sturge Weber Syndrome: review of literature with case illustration

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    Satyarthee Guru Dutta

    2017-03-01

    Full Text Available Sturge-Weber syndrome (SWS also called as encephalotrigeminal angiomatosis, is a sporadically occurring rare neuro-cutaneous syndrome, characterized by vascular malformation with capillary venous angiomas involving face, choroidal layer of eye globe and leptomeninges responsible for ophthamological as well as neurological signs and symptoms. Authors report an interesting case, a six year old girl, who presented with seizures, facial port wine stain and normal psychomotor development. CT scan showed left cerebral hemiatrophy, left frontal and parieto occipital calcification with cortical calcification in left high frontal convexity. Cranial MRI scan also confirmed finding of left cerebral hemiatrophy and also revealed presence of gyriform cortical calcification, prominent flow voids seen in left basal ganglia. Her seizure is well controlled with antiepileptic medication. The pertinent literature is reviewed and management of such cases is discussed briefly.

  14. RHUPUS Syndrome in Children: A Case Series and Literature Review

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    Vahid Ziaee

    2013-01-01

    Full Text Available Objective. Overlap of juvenile idiopathic arthritis (JIA and juvenile systemic lupus erythematosus (JSLE is a rare clinical condition in children. This condition has been described as RHUPUS syndrome. Prevalence of this syndrome and 3 cases are reported in this paper. Cases Presentation. During 10 years, 3 patients with SLE had chronic arthritis before or after diagnosis of SLE. Prevalence of this disorder in JSLE was 2.5%. Two patients were females and one of them was a male. According to our review, mean delay between chronic joint involvement and JSLE diagnosis was 50.1 months. In our case report, two females had joint erosion and one of them died due to heart failure, but in the literature review, just 45% cases had joint erosion and 70% cases were polyarticulare form. Conclusion. RHUPUS is unusual presentation of lupus in children. It seems that clinical feature and outcome of RHUPUS syndrome are different in children due to difference between RA and JIA. We suggest juvenile RHUPUS for overlap of JIA and JSLE.

  15. Public Health Literature Review of Fragile X Syndrome.

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    Raspa, Melissa; Wheeler, Anne C; Riley, Catharine

    2017-06-01

    The purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be used to help inform future public health research and provide pediatricians with up-to-date information about the implications of the condition for individuals and their families. An electronic literature search was conducted, guided by a variety of key words. The search focused on 4 areas of both clinical and public health importance: (1) the full mutation phenotype, (2) developmental trajectories across the life span, (3) available interventions and treatments, and (4) impact on the family. A total of 661 articles were examined and 203 were included in the review. The information is presented in the following categories: developmental profile (cognition, language, functional skills, and transition to adulthood), social-emotional profile (cooccurring psychiatric conditions and behavior problems), medical profile (physical features, seizures, sleep, health problems, and physiologic features), treatment and interventions (educational/behavioral, allied health services, and pharmacologic), and impact on the family (family environment and financial impact). Research gaps also are presented. The identification and treatment of FXS remains an important public health and clinical concern. The information presented in this article provides a more robust understanding of FXS and the impact of this complex condition for pediatricians. Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families. Copyright © 2017 by the American Academy of Pediatrics.

  16. Psychological aspects of juvenile fibromyalgia syndrome: a literature review.

    Science.gov (United States)

    Goulart, Rubens; Pessoa, Cinthia; Lombardi, Império

    2016-01-01

    Juvenile fibromyalgia syndrome (JFMS) is a non-inflammatory chronic pain condition that occurs mainly in girls aged 9-15 years. JFMS is characterized by constant widespread pain in different parts of the body, poor sleep quality, daytime sleepiness and an altered mood. Concomitant psychological and organic factors result in a diminished capacity to cope with pain. The quality of life of individuals with chronic pain and their caregivers is severely restricted and the occurrence of symptoms of anxiety and depression is common in this population. The aim of the present study was to perform a systematic review of the literature on psychosocial factors related to JFMS. The findings reveal differences in opinion between patients and family members regarding the effect of the condition, as mothers tend to classify JFMS as more severe than the patients themselves. Individuals with JFMS seem to share the same personality traits and there seems to be a type of family environment that is favorable to the occurrence of this condition. Psychological and functional aspects should be treated with methods that can help patients and family members alter their coping strategies regarding day-to-day problems, attenuate the dysfunctional consequences of pain and fatigue and diminish the risk of catastrophizing that individuals submitted to constant pain develop in relation to their surrounding environment. Copyright © 2015 Elsevier Editora Ltda. All rights reserved.

  17. [Cotard's syndrome: Case report and a brief review of literature].

    Science.gov (United States)

    Moschopoulos, N P; Kaprinis, S; Nimatoudis, J

    2016-01-01

    The term "Cotard's syndrome" is used to describe a number of clinical features, mostly hypochondriac and nihilistic delusions, the most characteristic of which are the ideas "I am dead" and "my internal organs do not exist". Besides, anxious and depressed mood, delusions of damnation, possession and immortality, suicidal and self-mutilating behavior are included. The first description of the syndrome was made in 1880 by Cotard, who presented the case of a female patient in a lecture. He originally named it "hypochondriac delusion", and some years later "delusion of negations", while it was named "Cotard delusion" after his death. In international literature, the terms "nihilistic delusion" and "Cotard's syndrome" prevailed over "delusion of negations" and "Cotard delusion". In the present study we report the case of a 59 year-old woman, who was admitted to our department after a suicide attempt, and who showed symptoms of Cotard's syndrome for about two years, namely depressed mood, hypochondriac and nihilistic delusions, delusions of immortality and damnation, suicidal ideation, severe psychomotor retardation, diminished motivation and tendency to stay in bed. She never took the medication she was prescribed, and at times she refused to eat. During her hospitalization, there was performed a full blood panel and medical imaging, that showed chronic ischemic infarctions, periventricular leukoencephalopathy and diffuse cerebral atrophy in MRI. All the other test results were normal. She was administered treatment with haloperidol, mirtazapine and venlafaxine. Gradually, her psychomotor ability, motivation and mood improved, she didn't express suicidal ideation, her delusions were less intense and she was able to question them, but they weren't eliminated. She was discharged in improved condition, after 44 days. Cotard's syndrome isn't mentioned in the current classification systems (ICD-10, DSM-5). In literature though, it has been divided into three types, according

  18. Intersection Syndrome in a Handcyclist: Case Report and Literature Review

    OpenAIRE

    Jean Yonnet, Gael

    2013-01-01

    Intersection syndrome describes a rare inflammatory condition located at the crossing point between the first dorsal compartment muscles and the radial wrist extensor muscles. It is a repetitive motion injury that affects patients who overuse their wrists. The present report reviews the incidence of the condition as well as the special populations it affects. The anatomy of the wrist is presented and clinical findings and physical examination techniques are reviewed to help the reader reach a...

  19. Poland's syndrome - a case report and review of the literature

    International Nuclear Information System (INIS)

    Carvalho, Antonio Carlos Pires; Nogueira, Juliana Elen; Beze, Rodrigo Santos.

    2000-01-01

    The authors report the case of a patient with congenital anomalies of the left hand associated with total absence of the pectoralis minor muscle and partial absence of the pectoralis major muscle. The radiological findings were assessed and the literature was reviewed. (author)

  20. Anesthetic management of Shah–Waardenburg syndrome: Experience of two cases and review of literature

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    Ambi, Uday S.; Adarsh, E. S.; Hatti, Ramesh; Samalad, Vijaymahantesh

    2012-01-01

    Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development. Literature regarding the anesthetic management of these cases is limited. We present 2 cases of Shah–Waardenburg syndrome and discuss them in the context of review of previously published cases. PMID:22754447

  1. Anesthetic management of Shah-Waardenburg syndrome: Experience of two cases and review of literature

    Directory of Open Access Journals (Sweden)

    Uday S Ambi

    2012-01-01

    Full Text Available Waardenburg syndrome (WS is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development. Literature regarding the anesthetic management of these cases is limited. We present 2 cases of Shah-Waardenburg syndrome and discuss them in the context of review of previously published cases.

  2. Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review

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    Bougioukas Ioannis

    2010-08-01

    Full Text Available Abstract Kartagener syndrome consists of congenital bronchiectasis, sinusitis, and total situs inversus in half of the patients. A patient diagnosed with Kartagener syndrome was reffered to our department due to 3-vessel coronary disease. An off-pump coronary artery bypass operation was performed using both internal thoracic arteries and a saphenous vein graft. We performed a literature review for cases with Kartagener syndrome, coronary surgery and dextrocardia. Although a few cases of dextrocardia were found in the literature, no case of Kartagener syndrome was mentioned.

  3. Alstrom syndrome (OMIM 203800: a case report and literature review

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    Hegele Robert A

    2007-12-01

    Full Text Available Abstract Background Alstrom syndrome (AS is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described. Case presentation We describe the case of a 27-year old female from an English (Caucasian kindred. She had been initially referred for hypertriglyceridemia, but demonstrated other features suggestive of AS, including blindness, obesity, type 2 diabetes, renal dysfunction, and hypertension. DNA analysis revealed that she is a compound heterozygote with two novel mutations in the ALMS1 gene – H3882Y and V424I. Examination of her family revealed that her phenotypically unaffected mother and younger sister also had heterozygous mutations in the ALMS1 gene. In addition to presenting these novel molecular findings for AS, we review the clinical and genetic features of AS in the context of our case. Conclusion Two novel mutations in the ALMS1 gene causative for AS have been reported here, thereby increasing the number of reported mutations to 81 and providing a wider basis for mutational screening among affected individuals.

  4. Hearing loss among patients with Turner's syndrome: literature review

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    Cresio Alves

    2014-06-01

    Full Text Available INTRODUCTION: Turner's syndrome (TS is caused by a partial or total deletion of an X chromosome, occurring in 1:2,000 to 1:5,000 live born females. Hearing loss is one of its major clinical manifestations. However, there are few studies investigating this problem. OBJECTIVES: To review the current knowledge regarding the epidemiology, etiology, clinical manifestations and diagnosis of hearing impairment in patients with TS. METHODS: A bibliographic search was performed in the Medline and Lilacs databanks (1980-2012 to identify the main papers associating Turner's syndrome, hearing impairment and its clinical outcomes. CONCLUSIONS: Recurrent otitis media, dysfunction of the Eustachian tube, conductive hearing loss during infancy and sensorineural hearing loss in adolescence are the audiologic disorders more common in ST. The karyotype appears to be important in the hearing loss, with studies demonstrating an increased prevalence in patients with monosomy 45,X or isochromosome 46,i(Xq. Morphologic studies of the cochlea are necessary to help out in the clarifying the etiology of the sensorineural hearing loss.

  5. Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review

    International Nuclear Information System (INIS)

    Ryan, R.S.; Munk, P.; Myckatyn, S.O.; Reid, G.D.

    2003-01-01

    We report a case of Alagille syndrome (arteriohepatic dysplasia) with the unusual radiological abnormality of synostosis of the proximal portions of the radius and ulna bilaterally, a manifestation which, to our knowledge, has not previously been described in a specific patient in the English language literature. We also describe additional features of the syndrome in the same patient and review the published literature on radiological manifestations of this condition. (orig.)

  6. Tietze's syndrome: case report and literature review | Chuhwak ...

    African Journals Online (AJOL)

    The case report is on Tietze's syndrome – a disorder that is quite rare. Costochondritis has been thought to be synonymous with Tietze's syndrome until recently [2002] when costochondritis was differentiated from Tietze's syndrome. Costochondritis is inflammation of the costochondral joints without swelling. Tietze's ...

  7. H Syndrome: A case report and review of literature

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    Dilip Meena

    2018-01-01

    Full Text Available H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity.

  8. H Syndrome: A Case Report and Review of Literature

    Science.gov (United States)

    Meena, Dilip; Chauhan, Payal; Hazarika, Neirita; Kansal, Naveen Kumar

    2018-01-01

    H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity. PMID:29527032

  9. Orthorexia nervosa: An integrative literature review of a lifestyle syndrome.

    Science.gov (United States)

    Håman, Linn; Barker-Ruchti, Natalie; Patriksson, Göran; Lindgren, Eva-Carin

    2015-01-01

    Bratman first proposed orthorexia nervosa in the late 1990s, defining it an obsession with eating healthy food to achieve, for instance, improved health. Today, in the Swedish media, excessive exercising plays a central role in relation to orthorexia. A few review articles on orthorexia have been conducted; however, these have not focused on aspects of food and eating, sport, exercise, or a societal perspective. The overall aim of this study was to provide an overview and synthesis of what philosophies of science approaches form the current academic framework of orthorexia. Key questions were: What aspects of food and eating are related to orthorexia? What role do exercise and sports play in relation to orthorexia? In what ways are orthorexia contextualized? Consequently, the concept of healthism was used to discuss and contextualize orthorexia. The method used was an integrative literature review; the material covered 19 empirical and theoretical articles published in peer-reviewed journals. This review demonstrates a multifaceted nature of orthorexia research; this field has been examined from four different philosophies of science approaches (i.e., empirical-atomistic, empirical-atomistic with elements of empirical-holistic, empirical-holistic, and rational-holistic) on individual, social, and societal levels. The majority of the articles followed an empirical-atomistic approach that focused on orthorexia as an individual issue, which was discussed using healthism. Our analysis indicates a need for (a) more empirical-holistic research that applies interpretive qualitative methods and uses a social perspective of health, e.g., healthism and (b) examining the role of sports and exercise in relation to orthorexia that takes the problematizing of "orthorexic behaviours" within the sports context into account.

  10. Orthorexia nervosa: An integrative literature review of a lifestyle syndrome

    Directory of Open Access Journals (Sweden)

    Linn Håman

    2015-08-01

    Full Text Available Bratman first proposed orthorexia nervosa in the late 1990s, defining it an obsession with eating healthy food to achieve, for instance, improved health. Today, in the Swedish media, excessive exercising plays a central role in relation to orthorexia. A few review articles on orthorexia have been conducted; however, these have not focused on aspects of food and eating, sport, exercise, or a societal perspective. The overall aim of this study was to provide an overview and synthesis of what philosophies of science approaches form the current academic framework of orthorexia. Key questions were: What aspects of food and eating are related to orthorexia? What role do exercise and sports play in relation to orthorexia? In what ways are orthorexia contextualized? Consequently, the concept of healthism was used to discuss and contextualize orthorexia. The method used was an integrative literature review; the material covered 19 empirical and theoretical articles published in peer-reviewed journals. This review demonstrates a multifaceted nature of orthorexia research; this field has been examined from four different philosophies of science approaches (i.e., empirical-atomistic, empirical-atomistic with elements of empirical-holistic, empirical-holistic, and rational-holistic on individual, social, and societal levels. The majority of the articles followed an empirical-atomistic approach that focused on orthorexia as an individual issue, which was discussed using healthism. Our analysis indicates a need for (a more empirical-holistic research that applies interpretive qualitative methods and uses a social perspective of health, e.g., healthism and (b examining the role of sports and exercise in relation to orthorexia that takes the problematizing of “orthorexic behaviours” within the sports context into account.

  11. Fusarium Osteomyelitis in a Patient With Pearson Syndrome: Case Report and Review of the Literature.

    Science.gov (United States)

    Hiebert, Rachael M; Welliver, Robert C; Yu, Zhongxin

    2016-10-01

    Fusarium species are ubiquitous fungi causing a wide array of infections, including invasive disease in the immunosuppressed. We present a fusarium bone infection in a child with Pearson syndrome and review the literature. Ten cases of fusarium osteomyelitis were reported in the past 40 years, and we review the treatments.

  12. Peutz-Jeguers syndrome: case report and literature review

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    Juvenal da Rocha Torres Neto

    2012-03-01

    Full Text Available The Peutz-Jeghers syndrome is a rare disease characterized by the presence of mucocutaneous melanic pigmentation of the lips, oral mucosa and perioral region, associated with hamartomatous intestinal polyposis. Malignization of the polyps and association with other types of cancer are also usual. Case report: 32-year-old patient, female, white, who had an intestinal occlusion by invagination, discovered during laparotomy, when an intestinal tumor was found as well. The material was sent to anotomopathological analysis. However, the results did not allow to identify the tumor nature due to tumor necrosis. Then, the patient was sent to our service because of the intestinal polyps, and during the interview, the characteristic melanic pigmentation was observed. Videocolonoscopy was performed, with excision of two rectal polyps, identified in the anatomopathological exam as hamartomatous polyps. The patient reported anal imperforation at birth, just like her brother. He had unexplained death. The authors found no correlation of the Peutz-Jeghers syndrome with anal imperforation in the literature and asked the patient if her brother also had the syndrome.A síndrome de Peutz-Jeghers é uma doença rara que tem como características a pigmentação melânica mucocutânea de lábios, regiões perioral e de mucosa bucal associada à polipose hamartomatosa do trato intestinal, com possibilidade de malignização dos pólipos digestivos e associação com outros tipos de câncer. Relato de Caso: Paciente de 32 anos, de gênero feminino, branca, apresentou um quadro de oclusão intestinal por uma invaginação, evidenciada durante laparotomia exploradora, constatando-se, ainda, a presença de uma tumoração intestinal. O material foi encaminhado para exame anatomopatológico; porém, foi inconclusivo para a natureza da tumoração em decorrência da necrose. Em função do pólipo intestinal, a paciente foi encaminhada ao nosso serviço, quando percebemos

  13. Ascher syndrome: Review of literature and case report

    Directory of Open Access Journals (Sweden)

    B A Ramesh

    2011-01-01

    Full Text Available A 13 year old girl presented with aesthetic deformity of upper lip since birth. She also presented with eyelid swelling on and off for 11 months. She was diagnosed to be a rare case of Ascher syndrome. Ascher syndrome commonly presents with double lip and blepharochalasis, sometimes associated with goitre. The deformity of her double upper lip was corrected by appropriate surgery. Because her blepharochalasis is in active stage now, she is under periodic follow up for appropriate intervention. This article describes the management of the patient and brief overview of the syndrome. Ascher syndrome is often missed or misdiagnosed commonly.

  14. Cervical Disc Herniation Causing Brown-Séquard's Syndrome: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Tarush Rustagi

    2011-01-01

    Full Text Available Brown-Séquard's syndrome (BSS is caused by hemisection or hemicompression of the cord leading to ipsilateral motor deficit and contralateral sensory loss. Cervical disc herniation has been reported to be a rare cause of Brown-Séquard's syndrome. We describe a rare case of multilevel cervical disc herniation presenting as BSS. The condition was confirmed by MRI scan. Cervical corpectomy, decompression, and fusion gave a satisfying result. Pertinent literature has been reviewed.

  15. Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature

    Science.gov (United States)

    Parelkar, Sandesh V.; Kapadnis, Satish P.; Sanghvi, Beejal V.; Joshi, Prashant B.; Mundada, Dinesh; Oak, Sanjay N.

    2013-01-01

    Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. Highest incidence was reported in Gujarati Indians. We report a rare case of Meckel-Gruber syndrome and review of literature. PMID:24082939

  16. PeutzJeghers syndrome: A case report and literature review

    Directory of Open Access Journals (Sweden)

    A Lakhey

    2014-09-01

    Full Text Available Peutz–Jeghers Syndrome is an autosomal dominant inheritedhamartomatous polyp. We present a case of a 5-year-old young boywith a history of per rectal bleeding and mass protruding out of the anus. Physical examination revealed presence of mucocutaneous pigmented lesions over the tongue, and few hamartomatous polyps protruding out of the rectum suggesting Peutz–Jeghers syndrome. The presence in early infancy of small, well-demarcated and dark-brown to blue-black lentigines on the lips,buccal mucosa and perioral skin, should alert the clinician to Peutz–Jeghers Syndrome.DOI: http://dx.doi.org/10.3126/jpn.v4i8.11597 Journal of Pathology of Nepal; Vol.4,No. 8 (2014 677-679

  17. 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 ...

  18. Goldenhar syndrome: A case report and literature review | Bekibele ...

    African Journals Online (AJOL)

    The case of a 24-year-old female Nigerian with features of Goldenhar syndrome is presented and the challenges of management especially with reference to reconstructive facial surgery and general anaesthesia are discussed. Key words: Oculo-auriculo-vertebral dysplesia, Limbal dermoid, First branchial arch, Cleft ...

  19. Marfan's syndrome: case report and literature review | Atipo-Tsiba ...

    African Journals Online (AJOL)

    Marfan's syndrome is a rare genetic disease, autosomal dominant. The most affected organs are eyes (myopia, subluxation of the lens); skeleton (hyperlaxity, arachnodactyly, scoliosis, dolichostenomelia) and cardiovascular system (aortic pathology). The severity of this disease is related to its cardiovascular damage.

  20. Ortner’s syndrome: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Bruno Landim Dutra

    2015-08-01

    Full Text Available AbstractThe authors report the case of a 55-year-old female, hypertensive, smoker patient presenting with dysphonia, dysphagia and persistent dry cough. Laryngoscopy diagnosed left vocal cord paralysis. Computed tomography demonstrated saccular aneurysm of the inferior wall of the aortic arch, stretching the left recurrent laryngeal nerve, a finding compatible with Ortner’s syndrome.

  1. Churg-Strauss's Syndrome; Review of literature | Adefuye | Nigerian ...

    African Journals Online (AJOL)

    Churg – Strauss Syndrome (CSS) is a rare idiopathic, multisystemic, autoimmune disease, characterized by diffuse eosinophilic infiltration and necrotizing vasculitis of small to medium sized vessels. Late onset asthma and/or allergic rhinitis are frequent clinical manifestations with fever and loss of weight as systemic ...

  2. Two new Rett syndrome families and review of the literature

    DEFF Research Database (Denmark)

    Ravn, Kirstine; Roende, Gitte; Duno, Morten

    2011-01-01

    Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome...

  3. Borderline personality disorder and polycystic ovary syndrome: A review of the literature.

    Science.gov (United States)

    Tan, Raelene Ym; Grigg, Jasmin; Kulkarni, Jayashri

    2018-02-01

    This review examines the existing evidence for the relationship between borderline personality disorder and polycystic ovary syndrome, and to identify commonalities in etiological mechanisms of borderline personality disorder and polycystic ovary syndrome that might explain the relationship between these seemingly disparate disorders. A search of Medline, EMBASE and Cochrane Central was undertaken on 5 December 2016 to identify studies investigating women with borderline personality disorder and polycystic ovary syndrome (or symptoms and markers specific to polycystic ovary syndrome). Nine studies were identified, including three cross-sectional studies investigating symptoms of polycystic ovary syndrome in women with borderline personality disorder, two cross-sectional and one cohort study examining the prevalence of psychiatric diagnoses in women with polycystic ovary syndrome and three case reports of comorbid borderline personality disorder and polycystic ovary syndrome. Overall, the literature shows women with borderline personality disorder to have higher than expected serum androgen levels and incidence of polycystic ovaries, which can be key features of polycystic ovary syndrome. However, this research is still in its infancy, which limits our understanding of this potential comorbid phenomenon. Given the emerging anecdotal and empirical evidence to date, a theoretical discussion of the potential psychoneuroendocrinological mechanism underlying the borderline personality disorder and polycystic ovary syndrome comorbidity is provided. Further rigorous studies using standardized diagnostic criteria for polycystic ovary syndrome are warranted. Specifically, the use of prospective controlled cohort studies may be able to determine the causality and temporality of observed comorbid borderline personality disorder and polycystic ovary syndrome.

  4. Pearson syndrome in the neonatal period: two case reports and review of the literature.

    Science.gov (United States)

    Manea, Elena Maria; Leverger, Guy; Bellmann, Francoise; Stanescu, Popp Alina; Mircea, Adam; Lèbre, Anne-Sophie; Rötig, Agnes; Munnich, Arnold

    2009-12-01

    Pearson syndrome is a multiorgan mitochondrial cytopathy that results from defective oxidative phosphorylation owing to mitochondrial DNA deletions. Prognosis is severe and death occurs in infancy or early childhood. This article describes 2 cases with a severe neonatal onset of the disease. A review of the literature reveals the atypical presentation of the disease in the neonatal period, which is often overlooked and underdiagnosed.

  5. Klinefelter′s syndrome: Report of a case from Sokoto, Northern Nigeria and review of literature

    Directory of Open Access Journals (Sweden)

    Anas A Sabir

    2013-01-01

    Full Text Available Herein, we report, review and discuss the literature on Klinefelter′s syndrome (KS with our findings during an out-patient medical clinic at Usmanu Danfodiyo University Teaching Hospital Sokoto, Nigeria. The aim of the report is to create awareness and highlight to clinicians, the occurrence of KS in patients with infertility.

  6. Bardet-biedel syndrome: a case report and a review of literature ...

    African Journals Online (AJOL)

    Background: Bardet- Biedl syndrome (BBS) is a group of autosomal recessive conditions with overlapping phenotype of rod-cone dystrophy, central obesity, mental retardation, and hypogonadism. There are very few reports of BBS from Sub-Saharan Africa. Objective: To report a case of BBS and review existing literature on ...

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Nicholas S. Mastronikolis

    2016-01-01

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

  9. Epidemiology of general joint hypermobility and basis for the proposed criteria for benign joint hypermobility syndrome: review of the literature

    DEFF Research Database (Denmark)

    Remvig, Lars; Jensen, Dorte V; Ward, Robert C

    2007-01-01

    This literature review of generalized joint hypermobility (GJH) syndromes discusses information regarding sex-, age-, and race-related factors from publications that specifically document validated GJH criteria.......This literature review of generalized joint hypermobility (GJH) syndromes discusses information regarding sex-, age-, and race-related factors from publications that specifically document validated GJH criteria....

  10. [WHIM syndrome: a case report and literature review].

    Science.gov (United States)

    Chen, Xiao-juan; Yang, Wen-yu; Wang, Shu-chun; Guo, Ye; Liu, Fang; Qi, Ben-quan; Chang, Li-xian; Zhou, Jian-feng; An, Wen-bin; Wei, Wei; Wan, Yang; Zhu, Xiao-fan

    2013-03-01

    To study the clinical and laboratory characteristics of cases with warts, hypogammaglobulinemia, infections and myelokathexis (WHIM) syndrome. An 11-year-old boy was diagnosed as WHIM syndrome and CXCR4 gene mutation analysis was performed. Since 3 years of age, the patient had recurrent fever and persistent cough. Since 6 years of age, he had warts on his fingers, the warts increased gradually. His complete blood count showed: white blood cell (WBC) 0.65×10(9)/L, neutrophil 0.15×10(9)/L, hemoglobin 116 g/L, platelet 200×10(9)/L, reticulocyte 0.62%. Results of serum biochemical tests: total protein (TP) 72.2 g/L (reference value 60 - 80 g/L), albumin 20.4 g/L (reference value 20 - 35 g/L), gammaglobulin 20.4 g/L (reference value 20 - 35 g/L). IgG 5.56 g/L (reference value 7.51 - 15.6 g/L), IgA 0.48 g/L (reference value 0.82 - 4.53 g/L), IgM 0.29 g/L (reference value 0.46 - 3.04 g/L). Peripheral blood lymphocyte subsets: CD3(+)T lymphocyte 43.6% (reference value 64.01% - 75.95%), CD19(+)B lymphocyte 1.00% (reference value 9.02% - 14.1%). Bone marrow smears showed that many of the neutrophils had a reactive appearance, with cytoplasmic vacuolation. Most neutrophils had hypersegmentation with four or five nuclear lobules. In some cells, the filaments connecting the nuclear lobes were long. CXCR4 mutation was detected. WHIM syndrome is a rare immunodeficiency disorder with an autosomal-dominant pattern of inheritance. The disease is less progressive, and may accompany the patients' whole life.

  11. Guillain-Barre syndrome following dengue fever and literature review.

    Science.gov (United States)

    Ralapanawa, Dissanayake Mudiyanselage Priyantha Udaya Kumara; Kularatne, Senanayake Abeysinghe Mudiyanselage; Jayalath, Widana Arachilage Thilak Ananda

    2015-11-27

    Dengue is an arboviral infection that classically presents with fever, joint pain, headaches, skin flush and morbilliform rashes. The incidence of neurological symptoms and complications in dengue varies from 1 to 25% that include encephalopathy, Guillain-Barre syndrome (GBS), acute motor weakness, seizures, neuritis, hypokalaemic paralysis, pyramidal tract signs, and a few more. Dengue fever as an antecedent infection in GBS is uncommon. A 34-years-old Sri Lankan Sinhalese male presented with fever, headache and myalgia of 3 days and developed leucopenia and thrombocytopenia without evidence of haemoconcentration. The diagnosis of dengue fever was confirmed as he had positive dengue NS1 antigen test on the third day of fever. He made full recovery and was discharged after 4 days of hospital stay. Six days later, he presented with history of acute flaccid weakness of both lower limbs and upper limbs which was of progressive ascending nature. The electromyography had evidence of demyelinating neuropathy and cerebrospinal fluid showed albuminocytological dissociation. Subsequently, IgM for dengue virus was positive. Dengue is endemic in Sri Lanka. Post dengue Guillain-Barre syndrome is a potential neurological complications of this infection.

  12. Posterior reversibile encephalopathic syndrom: case report and review of literature

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    Petrović Branko B.

    2003-01-01

    Full Text Available INTRODUCTION Reversible Posterior Leukoencephalopathy Syndrome was introduced into clinical practice in 1996 in order to describe unique syndrome, clinically expressed during hypertensive and uremic encephalopathy, eclampsia and during immunosuppressive therapy [1 ]. First clinical investigations showed that leucoencephalopathy is major characteristic of the syndrome, but further investigations showed no significant destruction in white cerebral tissue [2, 3,4]. In majority of cases changes are localize in posterior irrigation area of the brain and in the most severe cases anterior region is also involved. Taking into consideration all above mentioned facts, the suggested term was Posterior Reversible Encephalopathy Syndrome (PRES for the syndrome clinically expressed by neurological manifestations derived from cortical and subcortical changes localized in posterior regions of cerebral hemispheres cerebral trunk and cerebellum [5]. CASE REPORT Patient, aged 53 years, was re-hospitalized in Cardiovascular Institute "Dedinje" two months after succesfull aorto-coronary bypass performed in June 2001 due to the chest bone infection. During the treatment of the infection (according to the antibiogram in September 2001, patient in evening hours developed headache and blurred vision. The recorded blood pressure was 210/120 mmHg so antihypertensive treatment was applied (Nifedipin and Furosemid. After this therapy there was no improvement and intensive headache with fatigue and loss of vision developed. Neurological examination revealed cortical blindness and left hemiparesis. Manitol (20%, 60 ccm every 3 hours and iv. Nytroglicerin (high blood pressure. Brain CT revealed oedema of parieto-occipital regions of both hemispheres, more emphasized on the right. (Figure 1 a, b, c. There was no sign of focal ischemia even in deeper sections (Figure 1d, e, f. Following three days enormous high blood pressure values were registered. On the fourth day the

  13. Catastrophic antiphospholipid syndrome. Case report and literature review

    Science.gov (United States)

    del Carpio-Orantes, Luis; Martínez-Anaya, Chantall Citlally; Bonilla-Casas, Elías

    2017-01-01

    The present document is the report of a case of a very rare clinical entity, which presents with acute multiorganic failure after a thrombotic storm related to antiphospholipid antibodies, the so-called catastrophic antiphospholipid syndrome, which began as a recurrent picture of mesenteric thrombosis, with a previous history of venous insufficiency and distal ulcers probably associated with an unidentified antiphospholipid; deserving management in intensive care and the consultation by the world expert, Dr. Ricard Cervera who confirmed the diagnosis and recommend treating as such entity, the patient's evolution was satisfactory so far. Final recommendations for diagnosis and current treatment options such as rituximab or eculizumab are made. The present case was added to the international registry that currently houses around 500 cases worldwide (International CAPS Registry). Copyright: © 2017 SecretarÍa de Salud

  14. Hepatorenal Syndrome with Cirrhotic Cardiomyopathy: Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Luis Mocarzel

    2015-01-01

    Full Text Available The hepatorenal syndrome (HRS is defined as a potentially reversible kidney failure in patients with cirrhosis and ascites. An association of HRS and cirrhotic cardiomyopathy has been reported recently, but there are no result studies about the use of positive inotropes as part of the acute phase treatment. We report the case of a patient diagnosed with HRS, with high levels of NT pro-BNP, but with normal ejection fraction of the left ventricle, which showed abnormalities in systolic function through speckle tracking in echocardiography, reversible after the infusion of dobutamine. The patient showed clinical and laboratory improvement of his renal function after the infusion of dobutamine. Clinical studies are needed on HRS therapeutic approach taking into account the myocardial dysfunction as a major contributing factor to renal dysfunction.

  15. Stiff person syndrome (SPS: Literature review and case report

    Directory of Open Access Journals (Sweden)

    Erna Pretorius

    2013-11-01

    Full Text Available Stiff person syndrome (SPS is a rare, debilitating condition which presents with progressive and inconsistent neurological features. The main symptoms are stiffness and intermittent, painful muscle spasms, triggered and exacerbated by stressful and emotional stimuli. The fluctuating clinical nature of SPS, and otherwise normal neurological examination, often lead to a misdiagnosis of conversion disorder. Psychiatric symptoms frequently accompany this disorder and patients are often first seen by psychiatrists. SPS is autoimmune-based: antibodies are directed against glutamate decarboxylase, resulting in dysregulation of gamma-aminobutyric acid (GABA in the brain which is considered the cause of the neuropsychiatric symptomatology. SPS should be considered in the differential diagnosis of conversion disorder. Effective management requires early detection, a collaborative approach with GABA-ergic medication and intravenous immunoglobulins, and management of concomitant psychiatric disorders. We describe a patient with SPS. Only one other case has been reported in South Africa.

  16. Peutz-Jeghers syndrome: case report and literature review.

    Science.gov (United States)

    Georgescu, E F; Stănescu, Ligia; Simionescu, Cristiana; Georgescu, Iuliana; Ionescu, Reanina; Florescu, G

    2008-01-01

    Periorificial lentiginosis, also knew as Peutz-Jeghers Syndrome (PJS), is an autosomally dominant inherited condition determined by a mutation localized at 19p13.3 responsible for mucocutaneous pigmentation and gastrointestinal polyps. Skin- and mucosal pigmentation may be present at birth but usually occur in early childhood, and occasionally may develop later. Round, oval or irregular patches of brown or almost black pigmentation 1 to 5 mm diameter, irregularly distributed over the oral mucosa, gums, hard palate and lips (especially the lower) are observed. The pigmented maculae on the face, encountered especially around the nose and mouth are smaller. Polyps may appear in the stomach, small bowel or colon, with hamartomatous aspects on histology. Acute upper gastrointestinal bleeding and chronic fecal blood loss may appear during the course of disease. There is a higher risk of intestinal and extraintestinal cancers in those patients. We present the case of an 18-year-old young girl accusing since the age of 3 slight intermittent episodes of bloating and abdominal pain without a particular localization, as well as mild iron-deficiency anemia. Physical examination revealed pigmented lesions suggesting PSJ on the palatine and jugal mucosa while endoscopy found a lot of polyps in stomach and a few, isolated in the colon, all having the same hamartomatous pattern. The presence in early infancy of small, well-demarcated and dark-brown to blue-black lentigines on the lips, buccal mucosa and perioral skin, should alert the clinician to PJS.

  17. Omenn syndrome: a case report and review of literature

    Directory of Open Access Journals (Sweden)

    Chia-Chi Hsu

    2011-06-01

    Full Text Available Exfoliative dermatitis or erythroderma in infancy is rare. Clinicians need to be alert to the possible diagnosis of Omenn syndrome (OS, a rare form of combined immunodeficiency in infants presenting with recurrent infections, erythroderma, lymphadenopathy, hepatosplenomegaly, eosinophilia, and increased serum IgE levels. OS is fatal unless treated by hematopoietic stem cell transplantation. We described a 26-day-old boy who had presented with diffusely thick scales on the scalp and some pustules on his face and trunk since birth. The rash was initially treated as presumed seborrheic dermatitis. At the age of 42 days, he developed extensive exfoliative dermatitis, lymphadenopathy, hepatosplenomegaly, and failure to thrive as well as eosinophilia and increased serum IgE levels. The histopathology of the skin and lymph node were consistent with the diagnosis of OS. He had been prepared for allograft bone marrow transplantation twice at 5 months and 7 months of age, but the procedure was not performed because of catheter-related sepsis. The patient eventually died of sepsis secondary to perianal cellulitis at 20 months of age.

  18. TAFRO Syndrome in Caucasians: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Céline Louis

    2017-09-01

    Full Text Available BackgroundTAFRO syndrome has been reported in Japan among human herpesvirus 8 (HHV-8-negative/idiopathic multicentric Castleman’s disease (iMCD patients. To date, the majority of iMCD patients with TAFRO syndrome originate from Japan.Case presentationHerein, we report a 67-year-old HIV/HHV-8-negative Caucasian iMCD patient diagnosed with TAFRO. He presented with marked systemic inflammation, bicytopenia, terminal renal insufficiency, diffuse lymphadenopathies, and anasarca. Lymph node and bone marrow biopsies revealed atrophic germinal centers variably hyalinized and megakaryocytic hyperplasia with mild myelofibrosis. Several other biopsies performed in kidneys, liver, gastrointestinal tract, prostate, and lungs revealed unspecific chronic inflammation. The patient had a complete response to corticosteroids, tocilizumab, and rituximab. He relapsed twice following discontinuation of rituximab. When reviewing the literature, we found seven other Caucasian cases with TAFRO syndrome. There were no significant differences with those described by the Japanese cohort except for the higher frequency of kidney failure and auto-antibodies in Western patients.ConclusionThis case illustrates that patients with TAFRO syndrome can develop non-specific inflammation in several tissue sites. Furthermore, this case and our review of the literature demonstrate that TAFRO syndrome can affect Caucasian and Japanese patients highlighting the importance of evaluating for this syndrome independently of ethnic background.

  19. Orthorexia nervosa: An integrative literature review of a lifestyle syndrome

    OpenAIRE

    Linn Håman; Natalie Barker-Ruchti; Göran Patriksson; Eva-Carin Lindgren

    2015-01-01

    Bratman first proposed orthorexia nervosa in the late 1990s, defining it an obsession with eating healthy food to achieve, for instance, improved health. Today, in the Swedish media, excessive exercising plays a central role in relation to orthorexia. A few review articles on orthorexia have been conducted; however, these have not focused on aspects of food and eating, sport, exercise, or a societal perspective. The overall aim of this study was to provide an overview and synthesis of what ph...

  20. Post-polio syndrome. Cases report and review of literature.

    Science.gov (United States)

    Pastuszak, Żanna; Stępień, Adam; Tomczykiewicz, Kazimierz; Piusińska-Macoch, Renata; Galbarczyk, Dariusz; Rolewska, Agnieszka

    It is estimated that around 15 million people survived polio infection worldwide since early twentieth century. In 1950 effective vaccination was used for first time. Since that time number of affected people decreased. The last epidemic of Haine-Medine disease in Poland was in 1950s. Another rare cases of infections were observed till 1970s. About at least 15 years after polio virus infection, slowly progressive muscle limbs paresis with muscle atrophy, joints pain, paresthesia were observed in polio survivors. That constellation of symptoms was called post-polio syndrome (PPS). PPS frequency among people after paralytic and nonparalytic polio infectious is ranged from 30% to 80%. Fatigue that leads to physical and mental activity deterioration is another important symptom that is observed in 90% of patients with PPS. Etiology of disease remains elusive. Probably it is an effect of spine frontal horns motoneurons damage during acute virus polio infection that leads to overloading and degeneration of remaining ones. The most important risk factors of PPS are female sex and respiratory symptoms during acute polio infection. Electromyography is an important part of PPS diagnostic process. Electrophysiological abnormalities are seen in clinically affected and unaffected muscles. The most frequent are fasciculations and fibrillations during rest activity, extension of motor unit area, time duration and amplitude. In this study we described three cases of people who developed PPS years after Haine-Medine disease and correlation between their EMG results and clinical status. We also analyzed electromyography results both after one month since first PPS signs occurred as well as after few years. Presentation of dynamic changes in EMG was the most important aim of that study. Copyright © 2017. Published by Elsevier Urban & Partner Sp. z o.o.

  1. Progressive resistance training in patients with shoulder impingement syndrome: literature review.

    Science.gov (United States)

    Cardoso de Souza, M; Trajano Jorge, R; Jones, A; Lombardi Júnior, I; Natour, J

    2009-01-01

    Shoulder impingement syndrome and tendonitis of the rotator cuff are the most common intrinsic causes of shoulder pain and disability. The present literature review addresses general concepts on shoulder impingement syndrome as well as progressive resistance training and different physiotherapy interventions for this condition. The aim was to review what exists in the literature regarding progressive resistance training as a therapeutic approach to shoulder impingement syndrome. The review was carried out using the Lilacs, Medline, Pubmed and Web of Knowledge databases searching for studies published between 2000 and 2008. The following keywords were used: resistance exercises, exercises with weight, resistance training, strength training, painful shoulder, shoulder impingement syndrome, exercise and the translations of these terms in Portuguese. Controlled, randomized clinical trials that assessed the use of resistance training for shoulder impingement syndrome were selected. Articles written in English and Portuguese were included. Only one article on the subject was encountered. The authors stress the need for further studies on this topic, as the method has been widely used on a number of other musculoskeletal disorders.

  2. Heart rate variability and the metabolic syndrome: a systematic review of the literature.

    Science.gov (United States)

    Stuckey, Melanie I; Tulppo, Mikko P; Kiviniemi, Antti M; Petrella, Robert J

    2014-11-01

    A number of cross-sectional studies have examined associations between heart rate variability and metabolic syndrome, but differences in study populations, data collection and analysis methodologies make synthesis difficult. The purpose of this study was to systematically review published primary research examining associations between heart rate variability and metabolic syndrome or its individual risk factors. A systematic literature search of PubMed and EMBASE was conducted to identify relevant articles published from January 1999 to December 2012. Studies were included if they examined associations between heart rate variability analysed by standard protocols and metabolic syndrome risk factors according to published definitions. All papers were scored with a modified Downs and Black instrument, and data were extracted. Fourteen studies were included. Heart rate variability generally was reduced in women with metabolic syndrome compared to those without, while results in men were inconsistent. Time and frequency domain heart rate variability parameters were associated with individual metabolic syndrome risk factors, though sex differences exist. Only two studies considered nonlinear and Poincaré plot heart rate variability parameters, which were reduced in metabolic syndrome. Heart rate variability is altered differently in men and women with metabolic syndrome. Future studies should follow consistent heart rate variability analysis protocols and metabolic syndrome definitions and include more comprehensive analyses to investigate potential mechanisms. Copyright © 2014 John Wiley & Sons, Ltd.

  3. Cerebral sinus thrombosis in an infant with Prader-Willi syndrome and literature review

    Directory of Open Access Journals (Sweden)

    Ilias Chatziioannidis

    2013-04-01

    Full Text Available A full-term male neonate from a first pregnancy of two clinical non-consanguineous parents was born at 40 weeks of gestation with cesarean section. He was admitted at 2 hours of life to our III level Neonatal Intensive Care Unit due to generalized hypotonia, presenting at birth. Cerebral ultrasound showed a temporal bilateral aspecific alteration of the parenchimal echogenicity, whereas a magnetic resonance imaging/venography revealed an extensive cerebral sinus thrombus. Extensive diagnostic studies for prothrombotic disorders showed negative results, even if there was an alterated haemostatic screening. Persistency of hypotonia led us to investigate Prader-Willi syndrome among others. Methylation analysis confirmed the diagnosis. This is the third report associating cerebral venous thrombosis and Prader-Willi syndrome, confirming sinus thrombosis as a possible presentation of this syndrome. A review of the literature is provided in order to disclose possible similarities and differences in Prader-Willi syndrome patients with cerebral sinovenus thrombosis.

  4. Klinefelter syndrome, insulin resistance, metabolic syndrome, and diabetes: review of literature and clinical perspectives.

    Science.gov (United States)

    Salzano, Andrea; D'Assante, Roberta; Heaney, Liam M; Monaco, Federica; Rengo, Giuseppe; Valente, Pietro; Pasquali, Daniela; Bossone, Eduardo; Gianfrilli, Daniele; Lenzi, Andrea; Cittadini, Antonio; Marra, Alberto M; Napoli, Raffaele

    2018-03-23

    Klinefelter syndrome (KS), the most frequent chromosomic abnormality in males, is associated with hypergonadotropic hypogonadism and an increased risk of cardiovascular diseases (CVD). The mechanisms involved in increasing risk of cardiovascular morbidity and mortality are not completely understood. This review summarises the current understandings of the complex relationship between KS, metabolic syndrome and cardiovascular risk in order to plan future studies and improve current strategies to reduce mortality in this high-risk population. We searched PubMed, Web of Science, and Scopus for manuscripts published prior to November 2017 using key words "Klinefelter syndrome" AND "insulin resistance" OR "metabolic syndrome" OR "diabetes mellitus" OR "cardiovascular disease" OR "testosterone". Manuscripts were collated, studied and carried forward for discussion where appropriate. Insulin resistance, metabolic syndrome, and type 2 diabetes are more frequently diagnosed in KS than in the general population; however, the contribution of hypogonadism to metabolic derangement is highly controversial. Whether this dangerous combination of risk factors fully explains the CVD burden of KS patients remains unclear. In addition, testosterone replacement therapy only exerts a marginal action on the CVD system. Since fat accumulation and distribution seem to play a relevant role in triggering metabolic abnormalities, an early diagnosis and a tailored intervention strategy with drugs aimed at targeting excessive visceral fat deposition appear necessary in patients with KS.

  5. Epileptic features in Cornelia de Lange syndrome: case report and literature review.

    Science.gov (United States)

    Pavlidis, Elena; Cantalupo, Gaetano; Bianchi, Sara; Piccolo, Benedetta; Pisani, Francesco

    2014-11-01

    Cornelia de Lange syndrome is a rare genetic disease, caused by mutations in three known different genes: NIBPL (crom 5p), SMC1A (crom X) and SMC3 (crom 10q), that account for about 65% of cases. This syndrome is characterized by distinctive facial features, psychomotor delay, growth retardation since the prenatal period (second trimester of pregnancy), hands and feet abnormalities, and involvement of other organs/systems. SMC1A and SMC3 mutations are responsible for a mild phenotype of the syndrome. We report the electroclinical features of epilepsy in a child with a mild Cornelia de Lange syndrome and furthermore we reviewed the descriptions of the epileptic findings available in the literature in patients with such syndrome. A large heterogeneity of the epileptic findings in the literature is reported. The presence of epilepsy could be related to pathophysiological factors independent of those implicated in the characterization of main classical phenotypic features. A more detailed description of the epileptic findings could help clinicians in the diagnosis of this syndrome in those cases lacking of the typical features. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  6. COLQ-mutant congenital myasthenic syndrome with microcephaly: A unique case with literature review

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    Al-Mobarak Sulaiman Bazee

    2017-07-01

    Full Text Available Congenital Myasthenic Syndrome (CMS is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The central nervous system involvement is typically not part of the CMS. We report here a Saudi girl with genetically proven Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ mutation type CMS who has global developmental delay, microcephaly and respiratory failure. We have reviewed the literature regarding COLQ-type CMS and to the best of our knowledge this is the first ever reported association of congenital myasthenia syndrome with microcephaly.

  7. Autoimmune polyendocrine syndrome type 1: case report and review of literature.

    Science.gov (United States)

    Weiler, Fernanda Guimarães; Dias-da-Silva, Magnus R; Lazaretti-Castro, Marise

    2012-02-01

    Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for selftolerance. Clinical manifestations are widely variable. Although the classic triad is composed by mucocutaneous candidiasis, hypoparathyroidism and adrenal failure, many other components may develop. Treatment is based on supplementation of the various deficiencies, and patients require regular follow-up throughout their lifespan. This article describes the case of a patient with the disease, and reviews literature data on the epidemiology, clinical course, immunogenetic aspects, diagnosis and treatment of the syndrome.

  8. [Respiratory manifestations of yellow nail syndrome: report of two cases and literature review].

    Science.gov (United States)

    Li, S; Huang, H; Xu, K; Xu, Z J

    2018-03-12

    Objective: To describe the clinical characteristics of respiratory manifestations of yellow nail syndrome. Methods: We conducted a retrospective analysis of 2 patients with respiratory diseases associated with yellow nail syndrome. Their clinical and chest radiological data were collected. We searched PubMed, Wanfang and CNKI databases with the keywords "yellow nail syndrome, yellow nail and lung" in Chinese and English. And the relevant literatures, including 6 articles in Chinese and 81 articles in English, were reviewed. Results: Our 2 patients were male, one 60 years old and the other 76. Typical yellow nails were present in their fingers, and one of them also showed toe yellow nails. One patient was admitted for refractory respiratory infection and he was diagnosed with diffuse bronchiectasis. The respiratory symptoms could be relieved with antibiotics according to the results of sputum microbiological analysis. The other patient was admitted for cough and exertional dyspnea, and refractory pleural effusions were revealed bilaterally. He received repeated effusion drainage by thoracentesis, and Octreotide was tried recently. A total of 373 cases were reviewed in Chinese and English literatures. Pleural effusions (152 cases) and diffuse bronchiectasis (121 cases) were the most common reported respiratory manifestations. Lymphoedema was present in almost all cases with pleural effusion associated with yellow nail syndrome, and the effusion was usually exudative and lymphocyte predominant. Pleurodesis and decortication were effective for them. But, somatostatin analogues had been tried effectively for these patients recently. On the other hand, literatures showed that diffuse bronchiectasis in yellow nail syndrome was less severe than idiopathic diffuse bronchiectasis, and might benefit from long-term macrolide antibiotics. Conclusions: Yellow nail syndrome is a very rare disorder. Besides yellow nail, respiratory manifestations are the main clinical

  9. Thymoma and immunodeficiency (Good syndrome): a report of 2 unusual cases and review of the literature

    Science.gov (United States)

    Agarwal, Shradha; Cunningham-Rundles, Charlotte

    2011-01-01

    Background Good syndrome is a rare cause of combined B- and T-cell immunodeficiency that occurs in association with a thymoma. Patients affected with Good syndrome have increased susceptibility to bacterial, fungal, viral, and opportunistic infections. Objective To describe 2 unusual cases of infections in patients with Good syndrome and review the literature. Methods Case 1 describes a 51-year-old woman with Good syndrome who presented with a 10-day history of diarrhea, nausea, and fevers. During her hospitalization she became pancytopenic and underwent a bone marrow biopsy and evaluation of her peripheral blood smear. Case 2 describes an 89-year-old man with Good syndrome who presented with a nonhealing leg ulcer, which underwent biopsy. A literature search through MEDLINE was performed. Keywords included Good syndrome, thymoma, hypogammaglobulinemia, immunodeficiency, and infection. Results The peripheral blood smear in patient 1 showed ring-formed parasites in red blood cells suggestive of babesiosis. She began treatment with azithromycin, atovaquone, and doxycycline and recovered completely. Patient 2 underwent a biopsy of the foot. Immunohistochemical staining was positive for human herpesvirus 8 consistent with Kaposi sarcoma. Conclusions The concomitant occurrence of immunodeficiency and thymoma is known as Good syndrome. In contrast to other humoral immune defects, patients with this syndrome can develop opportunistic infections, and the prognosis appears less favorable compared with X-linked agammaglobulinemia or common variable immunodeficiency. Immunological investigations, including T-cell subsets, B cells, and quantitative immunoglobulins, should be considered part of the routine diagnostic evaluation in patients with a thymoma and recurrent infections. PMID:17304889

  10. Birt-Hogg-Dubé syndrome: a case report and a review of the literature.

    Science.gov (United States)

    Jensen, Dea Kejlberg; Villumsen, Anders; Skytte, Anne-Bine; Madsen, Mia Gebauer; Sommerlund, Mette; Bendstrup, Elisabeth

    2017-01-01

    Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding gene (FLCN). The clinical manifestations of the syndrome involve the skin, lungs, and kidneys. Because of the rarity of the syndrome, guidelines for diagnosis and management of the patients with BHDS are lacking. Objective: To present a case story and a review of the literature on BHDS in order to give an update on genetics, clinical manifestations, diagnosis, treatment, prognosis and follow-up strategies. Design: Literature review and case story. Results: A PubMed and Embase search identified 330 papers. BHDS is characterized by small benign tumors in the skin, spontaneous pneumothoraces caused by cysts in the lungs and a seven-fold increased risk of renal cancer. A case story of a young female patient presenting with pneumothorax and a family history of recurrent pneumothoraces in many relatives illustrates how the history and the diagnostic work up resulted in a diagnosis of BHDS. Conclusion: BHDS is a rare inherited disorder. In patients with spontaneous pneumothorax or cystic lung disease without any obvious explanation, BHDS should be considered. Concomitant skin manifestations, a family history of familiar pneumothorax, renal cancers and skin manifestations supports the suspicion of BHDS. Early diagnosis is important in order to subject patients to systematic screening for renal cancers. A radiological surveillance strategy for renal cancer is proposed.

  11. Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review

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    Lindau, Tâmara Andrade

    2014-01-01

    Full Text Available Introduction Branchio-oto-renal (BOR syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss.

  12. New onset epilepsy in Prader-Willi syndrome: semiology and literature review.

    Science.gov (United States)

    Benson, Leslie A; Maski, Kiran P; Kothare, Sanjeev V; Bourgeois, Blaise F

    2010-10-01

    Prader-Willi syndrome is a chromosomal disorder caused by absence of expression of the paternal active genes in the 15q11∼q13 chromosome region; it is associated with an increased incidence of epilepsy and narcolepsy. Presented here is the case of a 2.5-year-old boy with Prader-Willi syndrome and a history of neonatal superior sagittal sinus thrombosis with new onset of atonic seizures with electrographic onset from the parasagittal region. It is postulated that microscarring from neonatal venous sinus thrombosis, history of febrile seizures, and Prader-Willi syndrome are factors predisposing him to epilepsy. The importance of video electroencephalography with electromyography electrodes is emphasized for Prader-Willi syndrome patients with drop episodes, to differentiate cataplexy from seizures. This being a novel report of a Prader-Willi syndrome patient with atonic seizures, the literature on seizure semiology among patients with Prader-Willi syndrome is reviewed. Copyright © 2010 Elsevier Inc. All rights reserved.

  13. Clinicopathological features of progressive renal involvement in TAFRO syndrome: A case report and literature review.

    Science.gov (United States)

    Tanaka, Mari; Tsujimoto, Hiraku; Yamamoto, Kojiro; Shimoda, Saeko; Oka, Kazumasa; Takeoka, Hiroya

    2017-10-01

    TAFRO syndrome is a systemic inflammatory disease characterized by a constellation of symptoms: Thrombocytopenia, Anasarca, MyeloFibrosis, Renal dysfunction, and Organomegaly. Progressive renal insufficiency is a predominant symptom; however, the mechanism of acute kidney injury (AKI) remains unclear, probably because severe thrombocytopenia prevents kidney biopsy. We report a rare case of TAFRO syndrome with histologically confirmed renal involvement. A 70-year-old man developed fever, anasarca, AKI, thrombocytopenia, and hepatosplenomegaly. Plasma vascular endothelial growth factor and serum interleukin-6 levels were significantly elevated. The diagnosis of TAFRO syndrome was made based on his clinical and laboratory findings. Kidney biopsy was performed for the evaluation of AKI and provided a diagnosis of membranoproliferative glomerulonephritis-like lesions due to endothelial injury. Glomerular capillary lumens were extremely narrowed or occluded by endothelial swelling, and marked widening of the subendothelial space by electron-lucent material resulted in mesangiolysis and a double-contoured glomerular basement membrane with no immune complex deposits. The patient required temporary hemodialysis due to oliguric AKI, but steroid therapy rapidly improved renal function. Typically, patients with progressive renal involvement in TAFRO syndrome rapidly develop oliguric or anuric AKI. This report suggests that the reduction of glomerular perfusion by glomerular endothelial injury might be a primary factor in the progressive AKI of TAFRO syndrome. Our case and the literature review indicate that steroid and/or biological therapies result in highly favorable renal outcomes in patients with progressive AKI in TAFRO syndrome.

  14. Pancreatic disease, panniculitis, polyarthrtitis syndrome successfully treated with total pancreatectomy: Case report and literature review.

    Science.gov (United States)

    Ferri, Valentina; Ielpo, Benedetto; Duran, Hipolito; Diaz, Eduardo; Fabra, Isabel; Caruso, Riccardo; Malave, Luisi; Plaza, Carlos; Rodriguez, Silvia; Garcia, Lina; Perez, Virginia; Quijano, Yolanda; Vicente, Emilio

    2016-01-01

    Pancreatic disease can be complicated by extrabdominal manifestations such as panniculitis and polyarthritis. The symptomatic triad comprising pancreatic disease, panniculitis and polyarthritis is also known as PPP syndrome and is characterized by severe chronic sequels and high mortality rate. We describe a case of PPP syndrome successfully treated with spleen preserving total pancreatectomy; in addition we performed a literature review. A 67 years old male presented panniculitis and polyarthritis without clinical abdominal symptoms. Clinical presentation, laboratory values and radiological findings demonstrated an acute pancreatitis and a pancreatic cancer was suspected; failure of conservatory treatments and high suspicious of malignancy led to perform a spleen preserving total pancreatectomy. Finally histological examination excluded a pancreatic cancer and confirmed a chronic pancreatitis. Patient was discharged with complete resolution of the extrabdominal disease. In literature only 64 cases of PPP syndrome have been reported. Abdominal symptoms do not often appear at presentation and diagnosis may be delayed. Panniculitis develope in any part of the body but especially on the distal parts of the lower extremities, around the ankles and pretibial regions of the legs. Between osteo-articular manifestations polyarthritis is the most common one, although oligoarthritis, and monoarthritis in have been reported. PPP syndrome is a rare disease with a high mortality rate. A timely diagnosis and an aggressive treatment may improve the prognosis of this condition. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

  15. Diagnostic Approaches to Sjögren’s Syndrome: a Literature Review and Own Clinical Experience

    Directory of Open Access Journals (Sweden)

    Pedro de Sousa Gomes

    2012-03-01

    Full Text Available Objectives: The purpose of present paper is to critically address the recent advances on diagnostic procedures of Sjögren’s syndrome, taking into account the attained local and systemic features of the disease. Material and Methods: A comprehensive review of the available literature regarding to the diagnostic approaches to Sjögren’s syndrome was conducted. Eligible studies were identified by searching the electronic literature PubMed, Medline, Embase, and ScienceDirect databases for relevant reports (last search update January 2012 combining the MESH heading term “Sjögren’s syndrome”, with the words "diagnosis, diagnostic procedures, salivary gland function, ocular tests, histopathology, salivary gland imaging, serology". The authors checked the references of the selected articles to identify additional eligible publications and contacted the authors, if necessary. Results: Presented article addresses the established diagnostic criteria for Sjögren’s syndrome and critically evaluates the most commonly used diagnostic procedures, presenting data from author’s own clinical experience. Diagnostic criteria for Sjögren’s syndrome are required both by healthcare professionals and patients, namely in order to provide a rational basis for the assessment of the symptoms, establish an individual disease prognosis, and orientate the therapeutic intervention. Conclusions: Sjögren’s syndrome is quite a common autoimmune disease of which the diagnosis and treatment are not easily established. Due to its systemic involvement, it can exhibit a wide range of clinical manifestations that contribute to confusion and delay in diagnosis. The use of proper diagnostic modalities will help to reduce the time to diagnosis and preserve the health and quality of life of patients with Sjögren’s syndrome.

  16. Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature.

    Science.gov (United States)

    Shenoy, Bhamy Hariprasad; Gupta, Amit; Sachdeva, Virender; Kekunnaya, Ramesh

    2014-05-01

    Cornelia de Lange syndrome (CdLS), also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. Most common and consistent ophthalmic features reported are nasolacrimal duct obstruction, long and curly eyelashes, blepharitis, ptosis, synophrys, telecanthus, hypertelorism, microcornea, peripapillary pigment ring, and myopia. In this report we report a case of a 5-year old boy who presented to our institution with complaint of blurring of vision in the right eye since birth. A diagnosis of Cornelia de Lange syndrome was arrived at based on the characteristic external and ophthalmic examination. He was found to have a rare association of optic nerve head coloboma in the right eye and a novel finding of an optic disk pit in the left eye. The association of optic disk pit with CdLS has never been reported earlier. We aim to provide a thorough review of literature of this not so uncommon syndrome.

  17. Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature

    Directory of Open Access Journals (Sweden)

    Bhamy Hariprasad Shenoy

    2014-01-01

    Full Text Available Cornelia de Lange syndrome (CdLS, also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. Most common and consistent ophthalmic features reported are nasolacrimal duct obstruction, long and curly eyelashes, blepharitis, ptosis, synophrys, telecanthus, hypertelorism, microcornea, peripapillary pigment ring, and myopia. In this report we report a case of a 5-year old boy who presented to our institution with complaint of blurring of vision in the right eye since birth. A diagnosis of Cornelia de Lange syndrome was arrived at based on the characteristic external and ophthalmic examination. He was found to have a rare association of optic nerve head coloboma in the right eye and a novel finding of an optic disk pit in the left eye. The association of optic disk pit with CdLS has never been reported earlier. We aim to provide a thorough review of literature of this not so uncommon syndrome.

  18. Type 2 Pfeiffer syndrome. Report of a case and review of the literature

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    Roldán Arce Jorge

    2014-07-01

    Full Text Available Pfeiffer syndrome is a rare autosomal dominant disease that affects almost 1 out of every 100,000 live newborns, and it is associated with craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly in hands and feet. Three types of this syndrome have been described based on the presence of other abnormalities and the severity of the condition. “Classic” type 1 consists of mild severity with normal to near-normal intelligence and generally a good prognosis. Type 2 is characterized by a cloverleaf skull, severe proptosis, elbow ankylosis or synostosis, growth retardation and life-threatening neurological and respiratory complications. Type 3 is similar to type 2 but without the cloverleaf cranium. This syndrome is genetically heterogeneous, it is caused by mutations in the fibroblast growth factor receptor genes FGFR- 1 or FGFR-2. Occasionally Pfeiffer syndrome can be diagnosed prenatally by sonography or molecularly if the causative mutation is known. Management must be multidisciplinary and it includes multiple-staged surgery. In this report we present the clinical and radiographic findings in female newborn, whose clinical features were consistent with Pfeiffer syndrome type 2. A brief updated review of the literature is included.

  19. The neuroimaging of Leigh syndrome: case series and review of the literature

    International Nuclear Information System (INIS)

    Bonfante, Eliana; Riascos, Roy F.; Koenig, Mary Kay; Adejumo, Rahmat B.; Perinjelil, Vinu

    2016-01-01

    Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers. (orig.)

  20. [Rapidly progressive puberty in a patient with mosaic Turner syndrome: a case report and literature review].

    Science.gov (United States)

    Liang, Y; Wei, H; Yu, X; Huang, W; Luo, X P

    2017-02-02

    Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr. 2016 were retrieved at PubMed and CNKI databases by the use of the key words "Turner syndrome" , "precocious puberty" and "rapidly progressive puberty" . Result: The patient was born at term with birth weight of 2 450 g and was diagnosed with SGA at 3 years of age for the first evaluating of growth and development. Then recombined human growth hormone (rhGH )was given at 4 years of age due to short stature (heightTurner syndrome is reported. Although short stature and ovarian dysgenesis are common in TS, precocious puberty may occur in TS, which is liable to cause delayed diagnosis and misdiagnosis. Careful examination is recommended for patients with unusual growth pattern, even though girls have normal height in accord with standard growth curve or spontaneous puberty. Evaluation for TS and subsequent investigation should be prompted.

  1. The neuroimaging of Leigh syndrome: case series and review of the literature

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    Bonfante, Eliana; Riascos, Roy F. [The University of Texas Medical School at Houston, Department of Diagnostic and Interventional Imaging, Houston, TX (United States); Koenig, Mary Kay [The University of Texas Medical School at Houston, Department of Pediatrics, Division of Child and Adolescent Neurology, Mitochondrial Center of Excellence Leigh Clinic, Houston, TX (United States); Adejumo, Rahmat B.; Perinjelil, Vinu [The University of Texas Medical School at Houston, Department of Pediatrics, Division of Child and Adolescent Neurology, Houston, TX (United States)

    2016-04-15

    Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers. (orig.)

  2. Rendu-Osler-Weber syndrome: what radiologists should know. Literature review and three cases report

    Directory of Open Access Journals (Sweden)

    Paulo Moraes Agnollitto

    2013-06-01

    Full Text Available Rendu-Osler-Weber syndrome or hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disease involving multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Most common symptoms include skin and mucosal telangiectasias, epistaxis, gastrointestinal, pulmonary and intracerebral bleeding. The key imaging finding is the presence of visceral arteriovenous malformations. The diagnosis is based on clinical criteria and can be confirmed by molecular biology techniques. Treatment includes measures for management of epistaxis, as well as surgical excision, radiotherapy and embolization of arteriovenous malformations, with emphasis on endovascular treatment. The present pictorial essay includes a report of three typical cases of this entity and a literature review.

  3. Rendu-Osler-Weber syndrome: what radiologists should know. Literature review and three cases report

    International Nuclear Information System (INIS)

    Agnollitto, Paulo Moraes; Barreto, Andre Rodrigues Facanha; Barbieri, Raul Fernando Pinsetta; Junior, Jorge Elias; Muglia, Valdair Francisco

    2013-01-01

    Rendu-Osler-Weber syndrome or hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disease involving multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Most common symptoms include skin and mucosal telangiectasias, epistaxis, gastrointestinal, pulmonary and intracerebral bleeding. The key imaging finding is the presence of visceral arteriovenous malformations. The diagnosis is based on clinical criteria and can be confirmed by molecular biology techniques. Treatment includes measures for management of epistaxis, as well as surgical excision, radiotherapy and embolization of arteriovenous malformations, with emphasis on endovascular treatment. The present pictorial essay includes a report of three typical cases of this entity and a literature review. (author)

  4. Epilepsy in 22q11.2 Deletion Syndrome: A Case Series and Literature Review.

    Science.gov (United States)

    Mudigoudar, Basanagoud; Nune, Sunitha; Fulton, Stephen; Dayyat, Ehab; Wheless, James W

    2017-11-01

    The 22q11.2 deletion syndrome affects multiple organ systems, and the neurological manifestations are an important aspect of this disorder. Many are aware of cardiac anomalies associated with this uncommon genetic disorder. However, the different types of seizures, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) findings seen in this condition are not appreciated. Medical records of four patients with epilepsy due to 22q11.2 deletion syndrome were retrospectively reviewed for documentation of seizure types, EEG, and brain MRI findings. In addition, we also did a literature review of previously reported individuals with unprovoked seizures in this condition. A review of all published cases including our patients reveals that focal epilepsy (39 of 88, 44%) is the most common type followed by genetic generalized epilepsy (24 of 88, 27%). Diffuse cerebral atrophy and polymicrogyria were the most frequent MRI findings. Patients with structural brain abnormalities, especially polymicrogyria and associated epilepsy should have a chromosomal microarray (CMA) performed to screen for the 22q11.2 deletion syndrome. Focal epilepsy and genetic generalized epilepsy are the most frequent epilepsy types reported in this condition. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Hodgkin's lymphoma-related vanishing bile duct syndrome: A case report and literature review

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    Kiong-Ming Wong

    2013-11-01

    Full Text Available We report the case of a 38-year-old man who developed vanishing bile duct syndrome in association with Hodgkin's lymphoma. He was noted to have cervical lymphadenopathy and marked elevation of total serum bilirubin at diagnosis. He achieved complete remission with normalization of serum bilirubin after eight courses of Adriamycin, bleomycin, vinblastine, and dacarbazine chemotherapy followed with autologous hematopoietic cell transplantation. Consecutive liver biopsies performed at diagnosis and at the stage of complete remission revealed the disappearance and regeneration of interlobular bile ducts, respectively. Our case provides pathological evidence that Hodgkin's lymphoma-related vanishing bile duct syndrome is a reversible bile duct injury disease. Bilirubin is a reliable serum marker to monitor the treatment response of these cases. The mechanism to develop hyperbilirubinemia with vanishing bile duct in such a case of Hodgkin's lymphoma remains to be studied. A literature review was carried out.

  6. Paraneoplastic Cushing syndrome, case-series and review of the literature.

    Science.gov (United States)

    Deldycke, Annelies; Haenebalcke, Christel; Taes, Youri

    2017-09-12

    Paraneoplastic Cushing syndrome is a rare condition, representing a small fraction of the adrenocorticotropic hormone (ACTH)-dependent cases of Cushing syndrome Methods: Four case descriptions and literature review, highlighting the diagnostic challenges and treatment options are presented. Different tumor types can be associated with ectopic ACTH secretion. The most common types are bronchial carcinoids and small cell lung carcinoma (SCLC). However, in approximately 10 to 20% of the cases, no overt tumor (occult tumor) can be found. The diagnosis is made in a multistep process. Firstly, hypercortisolemia and adrenocorticotropin hormone dependency have to be confirmed. Distinction between a pituitary or ectopic cause can be cumbersome. MRI of the pituitary gland, a corticotropin releasing hormone stimulation test and a sinus petrosus sampling can be used. Treatment options consist of tumor management, somatostatin analogs, steroidogenesis inhibitors, and bilateral adrenalectomy. Clinicians should consider the diagnosis, and opt for specific treatment, especially in patients with a history of neuroendocrine tumors.

  7. Anti-phospholipid syndrome associated with schizophrenia description of five patients and review of the literature.

    Science.gov (United States)

    Regina, Pikman; Pnina, Rotman; Natur, Aiman; Yair, Levy

    2017-04-01

    Anti-phospholipid syndrome is an autoimmune disorder characterized by anti-phospholipid antibodies, arterial and venous thrombosis, pregnancy morbidity, and various neurological manifestations including psychiatric disorders. Higher incidence of various autoimmune disorders was found in schizophrenia. In addition, an association between the presence of anti-phospholipid antibodies and schizophrenia or psychosis was previously described, mainly as case reports. Although initially believed to be a result of neuroleptic treatment, the reasons for this association remain obscure. Several theories on the etiologic basis of schizophrenia that may explain this association were proposed including an immune basis of schizophrenia and a genetic locus of the disease in the human leukocyte antigens area. Herein, we present a series of five patients diagnosed with both schizophrenia and anti-phospholipid syndrome and their characteristics along with a comprehensive review of the current available literature on the subject in an attempt to deepen our understanding of these disorders and their pathogenesis.

  8. Stroke-like migraine attacks after radiation therapy syndrome: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Andrew Ian Goldfinch, MBBS

    2017-09-01

    Full Text Available Stroke-like migraine attacks after radiation therapy syndrome is a late complication of cranial radiation. It typically presents as reversible, unilateral cortical signs and symptoms such as confusion, hemiparesis, seizures, and headaches. Magnetic resonance imaging is also required for diagnosis, demonstrating cortical linear gadolinium enhancement. Typically, these magnetic resonance imaging findings resolve as patients experience partial or complete improvement in their symptoms and signs after a few weeks. Although a very rare condition, it is becoming increasingly observed as survival rates from brain tumors improve. In this report, we describe a typical case of stroke-like migraine attacks after radiation therapy syndrome and present a review of the literature.

  9. Cotard’s Syndrome in a Patient with Schizophrenia: Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Jeff Huarcaya-Victoria

    2016-01-01

    Full Text Available Jules Cotard described, in 1880, the case of a patient characterized by delusions of negation, immortality, and guilt as well as melancholic anxiety among other clinical features. Later this constellation of symptoms was given the eponym Cotard’s syndrome, going through a series of theoretical vicissitudes, considering itself currently as just the presence of nihilistic delusions. The presentation of the complete clinical features described by Cotard is a rare occurrence, especially in the context of schizophrenia. Here we present the case of a 50-year-old male patient with schizophrenia who developed Cotard’s syndrome. The patient was treated with aripiprazole, showing improvement after two weeks of treatment. A review of the literature is performed about this case.

  10. Literature Reviews

    Science.gov (United States)

    Rhoades, Ellen A.

    2011-01-01

    The primary purpose of a literature review is to assist readers in understanding the whole body of available research on a topic, informing readers on the strengths and weaknesses of studies within that body. It is defined by its guiding concept or topical focus: an account of what was previously published on a specific topic. This prevents…

  11. Proteus syndrome: Clinical profile of six patients and review of literature.

    Science.gov (United States)

    Angurana, Suresh Kumar; Angurana, Renu Suthar; Panigrahi, Inusha; Marwaha, Ram Kumar

    2013-04-01

    Proteus syndrome (PS) is characterized by patchy or segmental overgrowth and hyperplasia of multiple tissues and organs, along with susceptibility to development of tumors. Very few cases are reported in literature from developing countries. Due to certain overlapping features with other overgrowth syndromes, diagnosis is usually delayed. Our aim was to describe clinical profile of this rare condition in six patients. Retrospective case sheet review of patients followed in a Pediatric Genetic and Metabolic clinic at a tertiary care institute of North India with a diagnosis of hemihypertrophy/overgrowth syndrome. Six cases presented with asymmetric overgrowth and peculiar features suggestive of PS were included in this study. Age at presentation was 2 months to 10 years; two were males and four were females. Hemihypertrophy was noticed in only one case at birth, and focal overgrowths in rest of other patients were seen later during childhood. Due to certain overlapping features with other overgrowth syndromes, diagnosis of PS is usually delayed. Pediatricians are the first persons who come across such patients and they should be aware about this rare condition.

  12. The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature

    Science.gov (United States)

    Abbas, Elham; Cox, Devin M.; Smith, Teri; Butler, Merlin G.

    2016-01-01

    We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11.23 microduplication. This microduplication syndrome is characterized by speech delay (91%), social anxiety (42%), attention deficit hyperactivity disorder (ADHD, 37%), autism spectrum disorder (29%), and separation anxiety (13%). Other findings include abnormal brain imaging (80%), congenital heart and vascular defects (54%), and mild intellectual disability (38%). We then compared the phenotype with Williams–Beuren syndrome (WBS) which is due to a deletion of the same chromosome region. Both syndromes have abnormal brain imaging, hypotonia, delayed motor development, joint laxity, mild intellectual disability, ADHD, autism, and poor visuospatial skills but opposite or dissimilar findings regarding speech and behavioral patterns, cardiovascular problems, and social interaction. Those with WBS are prone to have hyperverbal speech, lack of stranger anxiety, and supravalvular aortic stenosis while those with the 7q11.23 microduplication have speech delay, SM, social anxiety, and are prone to aortic dilatation. PMID:27617154

  13. Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.

    Science.gov (United States)

    Ding, Xiaoyan; Patel, Mrinali; Herzlich, Alexandra A; Sieving, Pamela C; Chan, Chi-Chao

    2009-09-01

    Nance-Horan syndrome (NHS) is a rare X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies due in most cases to a mutation in the NHS gene. We present a case of clinical manifestation and ocular pathology in a patient with NHS. This article also reviews and discusses the relevant literature. Classic and novel ocular pathological findings of a young male with NHS are described, including congenital cataracts, infantile glaucoma, scleral staphyloma, and severe retinal cystoid degeneration. We report a new pathological finding of severe retinal cystoid degeneration in this NHS patient and confirm abnormal development of the anterior chamber angle structure. These findings, coupled with our analysis of the available NHS literature, provide new understanding of the histopathological basis of ocular abnormalities and vision loss in NHS.

  14. Ophthalmic Pathology of Nance-Horan Syndrome: Case Report and Review of the Literature

    Science.gov (United States)

    Ding, Xiaoyan; Patel, Mrinali; Herzlich, Alexandra A.; Sieving, Pamela C.; Chan, Chi-Chao

    2009-01-01

    Background Nance-Horan syndrome (NHS) is a rare X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies due in most cases to a mutation in the NHS gene. Material and Methods We present a case of clinical manifestation and ocular pathology in a patient with NHS. This article also reviews and discusses the relevant literature. Results Classic and novel ocular pathological findings of a young male with NHS are described, including congenital cataracts, infantile glaucoma, scleral staphyloma, and severe retinal cystoid degeneration. Conclusions We report a new pathological finding of severe retinal cystoid degeneration in this NHS patient and confirm abnormal development of the anterior chamber angle structure. These findings, coupled with our analysis of the available NHS literature, provide new understanding of the histopathological basis of ocular abnormalities and vision loss in NHS. PMID:19941417

  15. Asthma and chronic obstructive pulmonary disease overlap syndrome (ACOS): structured literature review and physician insights.

    Science.gov (United States)

    Ding, B; Enstone, A

    2016-01-01

    To understand the key characteristics of Asthma and Chronic Obstructive Pulmonary Disease Overlap Syndrome (ACOS) and to identify evidence gaps relating to the identification, treatment and management of ACOS patients. A structured literature review and 1-hour telephone interviews with specialist respiratory physicians were conducted (n=10; China, France, Germany, Japan and the USA). All 10 physicians used the term ACOS in clinical practice. ACOS was not clearly defined in the literature. Prevalence of ACOS among adult patients with COPD or asthma ranged from 12-55%. ACOS patients had severe disease, with increased exacerbations and hospitalisations compared to some asthma and COPD patients. ACOS represented a clinical challenge due to a lack of evidence-based guidelines distinguishing between asthma, COPD and ACOS. Published data quantifying ACOS costs were limited. There is a need for consensus evidence-based guidance to facilitate earlier diagnosis and to optimise the management of ACOS patients.

  16. Literature review :

    Energy Technology Data Exchange (ETDEWEB)

    Dwyer, Stephen F.

    2013-03-01

    Typical engineering methods utilized to calculate stresses on a roof structure involve simplifying assumptions that render a complex non-linear structure a simple and basic determinate beam. That is, instead of considering the composite action of the entire roof structure, the engineer evaluates only a single beam that is deemed conservatively to represent an affected rafter or top chord of a truss. This simplification based on assumptions of a complex problem is where significant conservatism can be introduced. Empirical data will be developed to evaluate this issue. Simple wood beams will be tested to failure. More complex and complete sections of roof structures that include composite action will also be tested to failure. The results can then be compared. An initial step in this process involves a literature review of any work that has been performed on roof structure composite action. The following section summarizes the literature review that was completed.

  17. [Delusional misidentification syndromes: A factor associated with violence? Literature review of case reports].

    Science.gov (United States)

    Horn, M; Pins, D; Vaiva, G; Thomas, P; Fovet, T; Amad, A

    2018-03-23

    Delusional misidentification syndromes (DMS) correspond to the delusional belief of misidentification of familiar persons, places or objects and to the conviction that they have been replaced or transformed. Several cases of patients who developed violent behavior while suffering from DMS have been published. This led some authors to consider patients with DMS at risk of violence. However, only a few studies have focused on the potential relationship between violence and DMS. The aim of our study was to explore this relationship with a literature review of published cases of patients having committed violent acts associated to DMS. A systematic literature search was conducted on PubMed up to January 2017 using the following term combination "misidentification" and "violence" Fifteen cases of patients with DMS who had committed violent acts were identified. The data from these descriptions were analyzed and synthetized. Most of the patients were men with a diagnosis of schizophrenia and Capgras syndrome. Acts of violence were severe with a relatively high number of murders or attempted murders. For half of the patients these violent acts were perpetrated with weapons. Victims were regularly the patient's family members and the assaults were usually not planned. Delusional syndromes often progressed for several years. Importantly, substance abuse, which is known to increase the risk of violence in patients with schizophrenia, was only observed in two patients. DMS are associated with several risk factors of violence, such as a diagnosis of schizophrenia, specific delusions including megalomania, persecution, negative affects and identified targets. Despite this risk for severe violence, there are no existing guidelines on how to assess and treat DMS in schizophrenia. Accordingly, we propose (1) the establishment of formal diagnostic criteria, (2) the development of rigorous research on these syndromes and (3) the integration of DMS in assessment of violence risk in

  18. The neurological evolution of Pearson syndrome: case report and literature review.

    Science.gov (United States)

    Lee, Hsiu-Fen; Lee, Huei-Jane; Chi, Ching-Shiang; Tsai, Chi-Ren; Chang, Te-Kau; Wang, Chau-Jong

    2007-07-01

    Pearson syndrome (PS) is an uncommon specific syndrome among mitochondrial diseases. It has unique clinical presentations. The purpose of this article is to clarify the neurological evolution, neuroimage findings, molecular genetic analysis and outcomes in PS cases with neurologic manifestations. We described the clinical progress of a female patient who was diagnosed as PS with a novel 6.0 kbp mitochondrial DNA deletion. She had typical clinical features of PS in early infancy followed by multiple organs involvement after the age of 1 year. At age 3, Kearns-Sayre syndrome (KSS) and Leigh syndrome (LS) developed. We also reviewed PS cases reported in the literature and analyzed the neurological evolution. Total 55 PS cases, including our index case, had been reported. Among them, 11 cases had detailed clinical descriptions in terms of hypotonia, developmental delay, ataxia or tremor. In whom, PS might evolve into KSS and/or LS: three cases evolving into KSS; one case on the transition of KSS; three cases evolve into LS; our index case has both presentations. The neuroimage findings of PS were quite different which might be from normal to specific abnormal findings over the cerebral white matter, cerebellum, basal ganglion and brainstem. Among those cases, the molecular analysis revealed large-scale mitochondrial deletion around 3.1-6.0kbp. The outcome of PS was opposite: either early death before age 4 or survived beyond age 7. The neurological features of PS have potential evolution changes that are from normal, mild neurological deficits to special mitochondrial syndromes: KSS and LS. Closely monitoring neurological symptoms, arranging eye fundus examinations and neuroimaging studies in cases with changes of neurological signs are crucial.

  19. Pediatric primary Sjögren syndrome presenting with bilateral ranulas: A case report and systematic review of the literature.

    Science.gov (United States)

    Means, Casey; Aldape, Mark A; King, Ericka

    2017-10-01

    Primary Sjögren syndrome is uncommon in children, and the standard clinical criteria used in diagnosis of adult Sjögren syndrome will miss many children with the disease. Floor of mouth ranulas have not been described in Sjögren syndrome. This study aims to describe a novel presentation of juvenile primary Sjögren syndrome, and to present a comprehensive systematic review of the literature regarding the presentation and diagnosis of Sjögren syndrome in children. Ovid MEDLINE. A MEDLINE literature search was performed using the following search terms: primary, Sjögren, disease, and children. Results were limited to human subjects and articles written in English between 1981 and 2014. Applicable articles were reviewed and qualitatively summarized. Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines (PRIMA). Initial MEDLINE search yielded 146 articles, 80 of which were excluded as not clinically pertaining to Sjögren syndrome. An additional 25 were excluded due to lack of pediatric-specific data. Systematic review of the literature revealed no reports of ranula in association with Sjögren syndrome. 6 papers were manually included from review of reference lists of included articles. Our review indicated that recurrent parotitis is the most commonly reported presenting symptom in children, followed by ocular and oral symptoms, musculoskeletal, and renal symptoms. Compared to adults, children are less likely to present with dry eyes and mouth. All studies were retrospective chart reviews, case series or case reports. This is the first report of a child presenting with floor of mouth ranulas in association with Sjögren syndrome. While recurrent parotitis is the most common presentation in children, other salivary gland and extra-salivary manifestations may be seen, and the clinician must maintain a high index of suspicion for underlying Sjögren syndrome. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Penetrating spinal injury with wooden fragments causing cauda equina syndrome: case report and literature review.

    Science.gov (United States)

    Pal, Debasish; Timothy, Jake; Marks, Paul

    2006-10-01

    Case report. To report an unusual case of cauda equina syndrome following penetrating injury to the lumbar spine by wooden fragments and to stress the importance of early magnetic resonance imaging (MRI) in similar cases. A 22-year-old girl accidentally landed on wooden bannister and sustained a laceration to her back. She complained of back pain but had fully intact neurological function. The laceration in her back was explored and four large wooden pieces were removed. However 72 h later, she developed cauda equina syndrome. MRI demonstrated the presence of a foreign body between second and third lumbar spinal levels following which she underwent emergency decompressive laminectomy and the removal of the multiple wooden fragments that had penetrated the dura. Post-operatively motor function in her lower limbs returned to normal but she continued to require a catheter for incontinence. At review 6 months later, she was mobilising independently but the incontinence remained unchanged. There are no reported cases in the literature of wooden fragments penetrating the dura from the back with or without the progression to cauda equina syndrome. The need for a high degree of suspicion and an early MRI scan to localise any embedded wooden fragments that may be separate from the site of laceration is emphasized even if initial neurology is intact.

  1. [Genetic background of periodontitis. Part I. Basic principles and inherited syndromes. Literature review].

    Science.gov (United States)

    Gera, István; Vári, Melinda

    2009-06-01

    Periodontitis is an infectious disease. It had previously been considered as a diseases caused merely by dental plaque. During the 1990-ies a substantial number of publications indicated the role of other risk factors in its pathogenesis, such as behavioral, systemic and genetic causes. Based on recent research data, genetic and ethnic factors have become the leading susceptibility or severity factors for destructive periodontitis. The family background of early onset aggressive periodontitis has long been known. Hereditary syndromes can very frequently be associated with severe periodontitis. Both facts can support the alleged connection between certain genes' mutation and periodontal manifestation. Periodontal disease associated with systemic hereditary syndromes mainly shows a Mendelian inheritance. The locus and the characteristics of the gene mutations have in many cases been identified. Nevertheless several polygenic gene single nucleotide mutations can also be a predisposing or severity factor for periodontitis. Part I of the literature review is focusing on those syndromes in which major PMN leukocyte deficiency or dysfunction or certain structural protein deficiency occur.

  2. Cannabinoid hyperemesis syndrome: Review of the literature and of cases reported to the French addictovigilance network.

    Science.gov (United States)

    Schreck, Benoît; Wagneur, Nicolas; Caillet, Pascal; Gérardin, Marie; Cholet, Jennyfer; Spadari, Michel; Authier, Nicolas; Tournebize, Juliana; Gaillard, Marion; Serre, Anais; Carton, Louise; Pain, Stéphanie; Jolliet, Pascale; Victorri-Vigneau, Caroline

    2018-01-01

    Cannabinoid hyperemesis syndrome is a variant of cyclical vomiting syndrome in a context of chronic cannabis usage. Our aim was to compare French cases to those identified in the international literature in order to further our knowledge of the clinical criteria, pathophysiology and treatments for cannabinoid hyperemesis syndrome. We analysed cases reported in the international literature up to 30 June 2017, obtained from the MEDLINE, PsycINFO and The Cochrane Library databases; we selected relevant articles based on title and abstract. We also analysed cases of cannabinoid hyperemesis syndrome reported to the French addictovigilance network. A systematic search through the three databases enabled us to identify 137 articles. Finally, 55 articles were selected as they involved reported cases. In total, 113 cases were reported in these 55 articles. We were thus able to analyse 29 reported French cases of cannabinoid hyperemesis syndrome. Cannabinoid hyperemesis syndrome mainly affects young male subjects who have been smoking cannabis daily for several years. Taking hot baths or showers is the most effective means of relieving the symptoms, while antiemetics and dopamine antagonists do not appear to effective for relieving nausea and vomiting. French cases display the same characteristics as the cases identified in the international literature. The pathophysiology of cannabinoid hyperemesis syndrome is unclear and several hypotheses have been put forward in the literature. We have only begun to characterise the syndrome, though there is an outbreak of cannabinoid hyperemesis syndrome in France. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. Synthetic Cannabinoid Induced acute Tubulointerstitial Nephritis and Uveitis Syndrome: A Case Report and Review of Literature.

    Science.gov (United States)

    Sinangil, Ayse; Celik, Vedat; Kockar, Alev; Ecder, Tevfik

    2016-05-01

    Tubulointerstitial Nephritis with Uveitis (TINU) syndrome is a rarely seen syndrome. The interstitial nephritis may be with the concurrent uveitis and can also develop before or after uveitis. The syndrome can resolve after elimination of the culprit destructive factors, such as drugs, toxins and immune reaction. Synthetic cannabinoids have emerged as drugs of abuse with increasing popularity among young adults. Recent literature has documented reports of acute kidney injury in association with the use of synthetic cannabinoids; however, there is no report of TINU syndrome development secondary to using of synthetic cannabinoids. Herein, we report a 42-year-old male with TINU syndrome associated with smoking synthetic cannabinoid.

  4. Corneal alterations associated with pseudoexfoliation syndrome and glaucoma: A literature review

    Directory of Open Access Journals (Sweden)

    Joel R Palko

    2017-01-01

    Full Text Available A systematic literature review was performed evaluating articles examining the effects of pseudoexfoliation syndrome (PEX and glaucoma (PEXG on the cornea with a focus on the corneal endothelium. We searched for articles relevant to pseudoexfoliation syndrome, pseudoexfoliation glaucoma and corneal endothelial cell counts using Pubmed, Google Scholar Database, Web of Science and cochrane Library databases published prior to September of 2016. We then screened the references of these retrieved papers and performed a Web of Science cited reference search. corneal characteristics analyzed included central corneal thickness (ccT, corneal nerve density, endothelial cell density (EcD, polymegathism, and pleomorphism. These parameters were compared in the following populations: control, PEX, PEXG, and primary open angle glaucoma (POAG. Over 30 observational studies were reviewed. Most studies showed a statistically significant lower EcD in PEX and PEXG populations compared to controls. Overall, PEX eyes had a non-statistically significant trend of lower EcDs compared to PEXG eyes. No consistent trends were found when analyzing differences in ccT amongst control, PEX and PEXG groups. For the few studies that looked at corneal nerve characteristics, the control groups were found to have statistically significantly greater nerve densities than PEX eyes, which had significantly greater densities than PEXG eyes. EcD and corneal nerve densities may be potential metrics for risk-stratifying patients with PEX and PEXG. Our literature review provided further evidence of the significant negative influence PEX has on the cornea, worsening as patients convert to PEXG.

  5. Literature review

    DEFF Research Database (Denmark)

    Nissen, Nina Konstantin; Holm, Lotte

    2015-01-01

    among normal weight and moderately overweight people. The studies reported in the 47 publications reviewed here address various themes based on different conceptualizations. The studies point out that normal weight and moderately overweight people are much concerned about their body size, but huge......Improved understanding of how normal weight and moderately overweight people manage their body weight and shape could be used to inform initiatives to prevent and treat obesity. This literature review offers a thorough appraisal of existing research into perceptions and management of own body size...... discrepancies are found between their own perceptions and study categorizations. The studies also indicate that normal weight and moderately overweight people are actively engaged in managing their body size through numerous managing strategies, and dieting is widespread. Together the studies do not form...

  6. Lemierre's syndrome from odontogenic infection: Review of the literature and case description.

    Science.gov (United States)

    Noy, Dani; Rachmiel, Adi; Levy-Faber, Dan; Emodi, Omri

    2015-01-01

    Lemierre's syndrome (LS) is a rare potentially fatal sequel of head and neck infection, classically described as thrombophlebitis of the internal jugular vein (IJV) with cervical space infection extending into the thorax. Our objective was to answer the clinical question: "Does Lemierre syndrome (LS) from odontogenic infection differ from nonodontogenic LS in regard to clinical sequence, treatment, and survival." We reviewed the literature on the management of LS over the last two decades, with a focus on LS from odontogenic infection. Such a case is presented in order to portray the clinical sequence. Only 10 cases met the inclusion criteria (including the case presented). The recorded data were analyzed in comparison to large case series reviewing LS. Our data reflect the moderate differences in regard to IJV thrombosis and bacteriogram. There is an overall rise in published LS cases in the last 20 years. Odontogenic infection leading to LS is scarce, yet with survival rates similar to nonodontogenic LS. Repeated surgical interventions and aggressive wide spectrum antibiotic therapy remain the treatment of choice.

  7. Nontraumatic Atlantoaxial Rotatory Subluxation: Grisel Syndrome. Case Report and Literature Review

    Science.gov (United States)

    Barcelos, Alécio C. E. S.; Patriota, Gustavo C.; Netto, Arlindo Ugulino

    2014-01-01

    Study Design Case report and literature review. Objective To describe a case of nontraumatic atlantoaxial rotatory subluxation (Grisel syndrome) and to review clinical and radiologic aspects, physiopathology, and treatment of this lesion. There is no well-established protocol in the management of patients without spontaneous reduction. The authors discuss the available strategies to achieve reduction and when to operate on these patients. Methods Case presentation of a 7-year-old patient who presented with torticollis ∼1 week after the onset of an upper airway infection. There was no history of head or neck trauma. Computed tomography demonstrated atlantoaxial rotatory subluxation and a normal atlantodental interval. Results The patient was treated with nonsteroidal anti-inflammatory drugs and antibiotics and by progressively increasing the soft cervical collar height. Clinical reduction of the subluxation occurred after 48 hours. He wore the rigid collar for 6 weeks. At that moment, the patient was completely asymptomatic and follow-up cervical spine radiograph demonstrated an anatomical C1–C2 relation. The patient was instructed to return to daily life activities in a gradual manner. Conclusions Grisel syndrome should be considered in the differential diagnosis of torticollis, especially in children. The management can be planned according to the classification of Fielding and Hawkins. The initial treatment involves medicines, injury reduction, and cervical spine immobilization. Surgical treatment is indicated only in cases of failure of conservative treatment, recurrences of subluxation, and irreducible subluxations. PMID:25083360

  8. [Wells Syndrome in children and atopy: Retrospective study of 11 cases and review of the literature].

    Science.gov (United States)

    Brun, J; Chiaverini, C; Bessis, D; Bourrat, E; Lasek-Duriez, A; Hadj-Rabia, S; Boralevi, F; Lacour, J-P

    2015-05-01

    Well's syndrome, or eosinophilic cellulitis, is rare in childhood, with fewer than 40 pediatric cases being reported since 1979. The physiopathology is unknown. In February 2012, members of the research group of the Department of Pediatric Dermatology Society submitted their case of Wells' syndrome in children aged 0-15 years. Details of clinical, biological and histological features and of therapeutic strategies were collected by physicians using a standardized questionnaire. Pictures were reviewed by the authors. Eleven patients were included (average age: 6 years), with a strong prevalence of atopy (63%). Two types of clinical manifestation were noted: single or multiple cellulitis associated or not with vesiculobullous lesions and fixed urticaria. Eighty-two percent of patients had pruritus and 73% had eosinophilia. For all patients, histological examination of skin biopsies showed an eosinophilic infiltrate extending in the dermis with associated Sweet-like neutrophilic infiltrate being seen in 2 patients. The course of the disease was protracted (mean duration: 8 months) with flare-ups. Treatment varied depending on the doctors (topical or systemic steroids, tacrolimus and dapsone). Our study confirms some of the data in the literature concerning the clinical, histological features and course of Well's syndrome in children. The key information is the high prevalence of atopic children hitherto unreported. In a setting of insect bites, vaccination, infection or traumatism, this unusual background could explain the onset of inflammatory reaction with eosinophils. Oral or topical steroids appear to be the first-line treatment in children when necessary. Well's syndrome in children is rare and characterized by its polymorphism. We report for the first time in a series of patients a high prevalence of atopy, which raises new perspectives in understanding these rare diseases. We propose topical steroids as first-line therapy in children with superficial lesions

  9. Plummer Vinson Syndrome: A Rare Syndrome in Male with Review of the Literature

    Directory of Open Access Journals (Sweden)

    Priyadarshini Karthikeyan

    2017-01-01

    Full Text Available Introduction. Plummer Vinson syndrome also known as Paterson Brown-Kelly syndrome is a syndrome associated with the triad of symptoms comprising microcytic hypochromic anemia, oesophageal strictures, and dysphagia. PVS is commonly found in women of middle age especially in the fourth and fifth decade of life and is rarely reported in males. Case Report. The authors report a case of 43-year-old male patient who presented with the classic symptoms of Plummer Vinson syndrome. Conclusion. Dentists have to be familiar with symptoms of PVS and a thorough clinical examination of the patient is necessary for early diagnosis and treatment. As PVS is a precancerous condition with high malignant potential, early diagnosis is of utmost importance for better prognosis. Clinical Significance. Mutual interaction of systemic and oral health has largely been underestimated by many patients in the developing countries and hence this report includes a note on importance of adequate medical history taking and its relevance to the dental health and treatment.

  10. The Effect of Patellofemoral Pain Syndrome on Gait Parameters: A Literature Review

    Directory of Open Access Journals (Sweden)

    Mokhtar Arazpour

    2016-10-01

    Full Text Available Background: Patellofemoral pain syndrome (PFPS is one of the most frequent causes of anterior knee pain in adolescents and adults. This disorder can have a big effect on patients’ ability and quality of life and gait.   Methods: This review included all articles published during 1990 to 2016. An extensive literature search was performed in databases of Science Direct, Google Scholar, PubMed and ISI Web of Knowledge using OR, AND, NOT between the selected keywords. Finally, 16 articles were selected from final evaluation. Results: In PFPS subjects, there was lower gait velocity, decreased cadence, and reduced knee extensor moment in the loading response and terminal stance, delayed peak rear foot eversion during gait and greater hip adduction compared to healthy subjects, while for hip rotation, there was controversy in studies. Conclusion: Changes in the walking patterns of PFPS subjects may be associated with the strategy used for the reduction of patellofemoral joint reaction force and pain.

  11. Oral findings in Rett syndrome: a systematic review of the dental literature.

    Science.gov (United States)

    Fuertes-González, María-Cristina; Silvestre, Francisco-Javier; Almerich-Silla, José-Manuel

    2011-01-01

    Rett syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. The present review describes the 35 cases of RS published in the indexed literature (Medline)--the first corresponding to 1985 and the last to the year 2007. Certain oral manifestations of the disease are derived from the drug treatment prescribed to control the disease, while others are common to other clinical conditions characterized by convulsion activity, difficulties for correct oral hygiene, walking problems and/or an excess of oral/digital-manual habits. In any case, bruxism is the oral habit most frequently associated with RS--the treatment of which remains the subject of controversy.

  12. Neuroleptic malignant syndrome in an elderly with quetiapine: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Devakshi Dua

    2017-01-01

    Full Text Available Over the years, there is an increase in the prescription of antipsychotics among elderly patients, and these are used for various clinical indications such as psychotic disorders, affective disorders, behavioral and psychological symptoms of dementia and delirium. Quetiapine is one of the preferred antipsychotics among elderly because of its safety profile. However, quetiapine has been rarely been associated with the development of neuroleptic malignant syndrome (NMS among elderly. In this report, we discuss a case of NMS in a 70-year-old female, who developed symptoms of NMS at the dose of 200 mg/day, while quetiapine was being used along with lithium. A review of literature suggests that there are 12 cases of NMS reported in subjects older than 55 years of age.

  13. Uncommon presentation of a common disease - Bouveret's syndrome: A case report and systematic literature review.

    Science.gov (United States)

    Al-Habbal, Yahya; Ng, Matthew; Bird, David; McQuillan, Trevor; Al-Khaffaf, Haytham

    2017-01-27

    To investigate and summarise the current evidence surrounding management of Bouveret's syndrome (BS). A MEDLINE search was performed for the BS. The search was conducted independently by two clinicians (Yahya AL-Habbal and Matthew Ng) in April 2016. A case of BS is also described. A total of 315 articles, published from 1967 to 2016, were found. For a clinically meaningful clinical review, articles published before 01/01/1990 and were excluded, leaving 235 unique articles to review. Twenty-seven articles were not available (neither by direct communication nor through inter-library transfer). These were also excluded. The final number of articles reviewed was 208. There were 161 case reports, 13 reviews, 23 images (radiological and clinical images), and 11 letters to editor. Female to male ratio was 1.82. Mean age was 74 years. Treatment modalities included laparotomy in the majority of cases, laparoscopic surgery, endoscopic surgery and shockwave lithotripsy. There is limited evidence in the literature about the appropriate approach. We suggest an algorithm for management of BS.

  14. A systematic review of the literature on cystodistension in bladder pain syndrome.

    Science.gov (United States)

    Olson, Louise E; Dyer, James E; Haq, Ahsanul; Ockrim, Jeremy; Greenwell, Tamsin J

    2018-02-01

    There is significant variability in technique for cystodistension and an international discrepancy in the role in its treatment of bladder pain syndrome (BPS). The authors evaluate the evidence base for the use of cystodistension for BPS with particular reference to patient-related outcomes. In accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analysis statement, a prospective search and evaluation protocol was prepared and registered with the PROSPERO database (ID CRD42017053710). A review of the literature was performed using the search terms cystodistension and hydrodistension of the bladder using the PubMed database on 6 October 2016. A total of 59 papers were reviewed, but only 17 studies contained original data available for analysis from 1975 to 2016. Ten studies evaluated the outcome of cystodistension in a single arm design or used cystodistension as the control for evaluating adjunctive treatments. Seven studies evaluated cystodistension in combination with other agents or therapies. The best symptomatic responses reported a subjective improvement in 56% of men with moderate to severe prostatitis and 57% in patients with "inflammatory cystitis" respectively. There were no studies that employed a validated outcome measure, neither a questionnaire nor an analogue scale, to assess the effect of cystodistension alone. Cystodistension is increasingly popular, despite a weak evidence base by current standards. The quality of available evidence falls below the level that would be expected of a new intervention. This review highlights the need for cystodistension to be further investigated with randomised control trials.

  15. Isolated bilateral Tapia's syndrome after liver transplantation: A case report and review of the literature.

    Science.gov (United States)

    Bilbao, Itxarone; Dopazo, Cristina; Caralt, Mireia; Castells, Lluis; Pando, Elisabeth; Gantxegi, Amaia; Charco, Ramón

    2016-12-28

    To describe one case of bilateral Tapia's syndrome in a liver transplanted patient and to review the literature. We report a case of bilateral Tapia's syndrome in a 50-year-old man with a history of human immunodeficiency virus and hepatitis C virus child. A liver cirrhosis and a bi-nodular hepatocellular carcinoma, who underwent liver transplantation after general anesthesia under orotracheal intubation. Uneventful extubation was performed in the intensive care unit during the following hours. On postoperative day (POD) 3, he required urgent re-laparotomy due to perihepatic hematoma complicated with respiratory gram negative bacilli infection. On POD 13, patient was extubated, but required immediate re-intubation due to severe respiratory failure. At the following day a third weaning failure occurred, requiring the performance of a percutaneous tracheostomy. Five days later, the patient was taken off mechanical ventilation and severe dysphagia, sialorrea and aphonia revealed. A computerized tomography and a magnetic resonance imaging of the head and neck excluded central nervous injury. A stroboscopy showed bilateral paralysis of vocal cords and tongue and a diagnosis of bilateral Tapia's syndrome was performed. With conservative management, including a prompt establishment of a speech and swallowing rehabilitation program, the patient achieved full recovery within four months after liver transplantation. We carried out MEDLINE search for the term Tapia's syndrome. The inclusion criteria had no restriction by language or year but must provide sufficient available data to exclude duplicity. We described the clinical evolution of the patients, focusing on author, year of publication, age, sex, preceding problem, history of endotracheal intubation, unilateral or bilateral presentation, diagnostic procedures, type of treatment, follow-up, and outcome. Several authors mentioned the existence of around 70 cases, however only 54 fulfilled our inclusion criteria. We found

  16. Cortisol, obesity and the metabolic syndrome: A cross-sectional study of obese subjects and review of the literature

    OpenAIRE

    Abraham, SB; Rubino, D; Sinaii, N; Ramsey, S; Nieman, LK

    2013-01-01

    Circulating cortisol and psychosocial stress may contribute to the pathogenesis of obesity and metabolic syndrome. To evaluate these relationships, we performed a cross-sectional study of 369 overweight and obese subjects and 60 healthy volunteers and reviewed the previous literature. Overweight and obese subjects had at least two other features of Cushing?s syndrome. They underwent measurements representing cortisol dynamics (24h urine cortisol excretion (UFC), bedtime salivary cortisol, 1 m...

  17. Genetics and presence of non-syndromic supernumerary teeth: A mystery case report and review of literature

    OpenAIRE

    Khambete, Neha; Kumar, Rahul

    2012-01-01

    Presence of supernumerary teeth is well-recognized clinical phenomenon. However, it is uncommon to find multiple supernumeraries in individuals with no other associated disease or syndrome. Presence of multiple supernumerary teeth is thought to have genetic component. We report a rare case where multiple supernumerary teeth were seen without presence of any other syndrome in 3 generations; father, son, and two grandsons. We also present a review of similar cases published in literature till d...

  18. Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.

    Science.gov (United States)

    Bouchlariotou, Sofia; Tsikouras, Panagiotis; Dimitraki, Marina; Athanasiadis, Apostolos; Papoulidis, Ioannis; Maroulis, George; Liberis, Anastasios; Liberis, Vasileios

    2011-05-01

    Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47,XXX cell line in Turner's syndrome.

  19. Dental perspective on Sjögren’s syndrome: literature review.

    Directory of Open Access Journals (Sweden)

    Jesús Rodríguez

    2015-06-01

    Full Text Available The human body releases around 500-600mL of saliva daily, however when values of unstimulated whole saliva range from 0.1 to 0.2mL/min, there is a condition called Hyposalivation or hyposialia. Hyposalia is characterized by a large number of systemic conditions, including Sjögren’s syndrome, a chronic autoimmune disease that affects between 0.1 and 3% of the world population and is characterized by exocrinopathy of the salivary glands leading to glandular hypofunction and thus decreasing the normal salivary flow. Saliva is part of innate immunity, when there is a decrease in protein secretion, numerous oral manifestations occur such as dental caries, candidiasis, gingival disease, angular cheilitis, lymphomas of the salivary glands, dysphagia, erythematous and fissured tongue, among others. Currently there is no defined dental treatment, however there are alternative treatments by sialogogues and salivary substitutes, plus non-pharmacological therapies, which seek to maintain the ecology and oral conditions stable, in addition to preventive and restorative dental treatment for lesions already established as a consequence of the disease. The aim of this study is to conduct a literature review on the characteristics, classification, oral manifestations and dental management of Sjögren’s syndrome.

  20. Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.

    Science.gov (United States)

    Le Fevre, Anna; Beygo, Jasmin; Silveira, Cheryl; Kamien, Benjamin; Clayton-Smith, Jill; Colley, Alison; Buiting, Karin; Dudding-Byth, Tracy

    2017-03-01

    Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy demeanor. The four known etiological mechanisms; deletions, uniparental disomy, imprinting defects, and UBE3A mutation all affect expression of the UBE3A gene at 15q11-q13. An atypical phenotype is seen in individuals who are mosaic for a chromosome 15q11-q13 imprinting defect on the maternal allele. These patients present with a milder phenotype, often with hyperphagia and obesity or non-specific intellectual disability. Unlike typical AS syndrome, they can have a vocabulary up to 100 words and speak in sentences. Ataxia and seizures may not be present, and the majority of individuals do not have microcephaly. Here we review the current literature and present three individuals with atypical AS caused by a mosaic imprinting defect to demonstrate why DNA methylation analysis at the SNRPN locus needs to be considered in a broader clinical context. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  1. Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome.

    Science.gov (United States)

    Paradowska-Stolarz, Anna M

    2014-01-01

    Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants. Clefts of lip and/or palate are observed in almost half of the cases. The characteristic thing is that the more genetic material is missing, the more pronounced are the dimorphic features of the syndrome. Mostly, the dental status does not differ much from that of the healthy individuals. It had been proven though that WHS-patients are more prone to anomalies in dental structures. Cone-shaped and taurodontic teeth were observed. Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment.

  2. Outcomes for patients with Guillain-Barré syndrome requiring mechanical ventilation: a literature review.

    Science.gov (United States)

    de Boisanger, L

    2016-02-01

    This is a literature review of outcomes for patients with Guillain-Barré Syndrome (GBS) who require admission to the intensive care unit for mechanical ventilation. Respiratory distress is the leading cause of death in the acute phase, and occurs in about 25 % of patients. The aim of this review is to compile, analyse, and summarise the most relevant literature looking at outcomes for Guillain-Barré (GB) patients requiring admission to the intensive care unit and mechanical ventilation. A PubMed and Google-Scholar literature search was performed using the key words 'Guillain-Barré, Outcomes, Mechanical Ventilation, Prognosis, Mortality, ICU. All 7 papers from the years 2000-2014 which assessed outcomes for GBS patients requiring mechanical ventilation were included, and critically analysed. The parameters recorded by these studies looked at mortality, disability, length of hospitalisation, and complications. The mortality of GB patients requiring mechanical ventilation varied from 8.3 to 20 %, Disability was primarily measured by the GBS disability scale. One study deemed that a score of 0-1 was a positive outcome, and found that slightly over half 53.8 % of the patients fulfilled that criteria. Over half of the mechanically ventilated patients were required to be admitted for over 3 weeks. Complications during ICU admission are common, with bed-sores (40 %), pneumonia (30.2 %) and sepsis (17.4) being the most frequently encountered in one study. Accurate data are limited by the fact that these studies are retrospective, often covering long periods in the past. Larger, more recent, prospective, multi-centre studies will be required.

  3. Fragile X syndrome in females - a familial case report and review of the literature.

    Science.gov (United States)

    Stembalska, Agnieszka; Łaczmańska, Izabela; Gil, Justyna; Pesz, Karolina A

    2016-01-01

    Fragile X syndrome (FXS), one of the manifestations of FMR1-related disorders, is one of the most frequent genetic causes of intellectual disability. In over 99% of all cases it results from the expansion of CGG repeats in the 5'-untranslated region of the FMR1 gene and presents in males and in about 50% of the females with an FMR1 full mutation, usually with a milder phenotype. Although the morphologic and behavioral phenotype in males is a well-recognized entity, the presentation in females is variable and not as specific. The objective of this paper is to present a family with quite a severe expression of the disorder in two sisters with a full mutation. We report on a two-generation family where both males and females were found to be affected by FXS. We also present the diagnostic pathway and methods that led to the diagnosis of fragile X syndrome in the two sisters, as well as the method that explained the normal phenotype in their mother. The CGG repeats analysis in the FMR1 gene showed one normal allele and one allele with a full mutation in both sisters (probands) and their mother. A full mutation was also found in three male cousins of the probands. The analysis of the X-chromosome methylation status has shown a random X inactivation in proband 1 and 2 and a non-random one in the proband's mother, with the normal allele predominantly active. The reasons for different clinical presentations are discussed; moreover a review of the literature on females with FXS is presented. We hope that this paper will facilitate the future diagnosis of fragile X syndromes in females.

  4. Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature.

    Science.gov (United States)

    Bonnot, O; Cohen, D; Thuilleaux, D; Consoli, A; Cabal, S; Tauber, M

    2016-01-01

    Prader-Willi syndrome (PWS) is a rare genetic syndrome. The phenotype includes moderate to intellectual disability, dysmorphia, obesity, and behavioral disturbances (e.g., hetero and self-injurious behaviors, hyperphagia, psychosis). Psychotropic medications are widely prescribed in PWS for symptomatic control. We conducted a systematic review of published literature to examine psychotropic medications used in PWS. MEDLINE was searched to identify articles published between January 1967 and December 2014 using key words related to pharmacological treatments and PWS. Articles with original data were included based on a standardized four-step selection process. The identification of studies led to 241 records. All selected articles were evaluated for case descriptions (PWS and behavioral signs) and treatment (type, titration, efficiency, and side effects). Overall, 102 patients were included in these studies. Treatment involved risperidone (three reports, n = 11 patients), fluoxetine (five/n = 6), naltrexone (two/n = 2), topiramate (two/n = 16), fluvoxamine (one/n = 1), mazindol (one/n = 2), N-acetyl cysteine (one/n = 35), rimonabant (one/n = 15), and fenfluramine (one/n = 15). We identified promising treatment effects with topiramate for self-injury and impulsive/aggressive behaviors, risperidone for psychotic symptoms associated with uniparental disomy (UPD), and N-acetyl cysteine for skin picking. The pharmacological approach of behavioral impairment in PWS has been poorly investigated to date. Further randomized controlled studies are warranted. Behavioral disturbances in Prader-Willi syndrome including aggressive reactions, skin picking, and hyperphagia might be very difficult to manage. Antipsychotic drugs are widely prescribed, but weight gain and increased appetite are their major side effects. Topiramate might be efficient for self-injury and impulsive/aggressive behaviors, N-acetyl cysteine is apromising treatment for

  5. Effects of physiotherapy in patients with shoulder impingement syndrome: a systematic review of the literature.

    NARCIS (Netherlands)

    Kromer, T.O.; Tautenhahn, U.G.; Bie, R.A. de; Staal, J.B.; Bastiaenen, C.H.

    2009-01-01

    OBJECTIVE: To critically summarize the effectiveness of physio-therapy in patients presenting clinical signs of shoulder impingement syndrome. DESIGN: Systematic review. METHODS: Randomized controlled trials were searched electronically and manually from 1966 to December 2007. Study quality was

  6. [The Coffin-Siris syndrome. Description of 4 patients and a literature review].

    Science.gov (United States)

    van Heyst, A F; Kollée, L A; Brunner, H G

    1993-02-01

    Four patients with Coffin-Siris syndrome are described. In addition a 30 cases are reviewed. The most frequent symptoms are dysmorphic features of the facies with sparse scalp hair, nail hypoplasia and mental retardation.

  7. A newborn with very rare von Voss-Cherstvoy syndrome and literature review

    Directory of Open Access Journals (Sweden)

    Sharma D

    2016-07-01

    Full Text Available Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Pradeep Sharma4 1Department of Pediatrics, Pt. Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, N.K.P. Salve Medical College, Nagpur, Maharashtra, 4Department of Medicine, Mahatma Gandhi Medical College and Research Institute, Jaipur, Rajasthan, India Introduction: von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities.Case presentation: We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of kidney, ureter, and bladder. The neonate was suspected to have von Voss-Cherstvoy syndrome on the basis of clinical features, which was further confirmed by fibroblast analysis showing somatic mosaicism for del(13q.Conclusion: von Voss-Cherstvoy syndrome is a very rare syndrome that can be suspected on the basis of typical clinical features and confirmed by fibroblast analysis showing somatic mosaicism for del(13q. This adds a second case of this chromosome anomaly described in this syndrome. Keywords: von Voss-Cherstvoy syndrome, radial ray defects, occipital encephalocele, urogenital abnormalities, somatic mosaicism for del(13q

  8. Psychiatric manifestations of 22q11.2 deletion syndrome: a literature review.

    Science.gov (United States)

    Bertrán, M; Tagle, F P; Irarrázaval, M

    2018-03-01

    The 22q11.2 deletion syndrome is a genetic disorder with variable clinical manifestations. It affects one out of 5950 neonates and has an autosomal dominant inheritance pattern. The aim of this article is to review its psychiatric manifestations and any underlying genetic alterations. We reviewed the scientific literature available as of October 2014 in the LILACS and Medline databases. Sixty per cent of these patients fulfilled diagnostic criteria for a mental disorder at some point in their lives, referring to psychotic disorders, attention deficit hyperactivity disorder, mood disorders, anxiety disorders, and autism spectrum disorders. Specific genes, such as COMT and PRODH, have been linked to these psychiatric manifestations. It is necessary to raise awareness among all health care professionals so that they understand the relevance of these manifestations, are able to anticipate them, and can provide appropriate information to patients and family members. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Occupational Burnout Syndrome in the nursing context: an integrative literature review.

    Science.gov (United States)

    Medeiros-Costa, Mateus Estevam; Maciel, Regina Heloísa; Rêgo, Denise Pereira do; Lima, Lucimar Lucas de; Silva, Maria Eliziane Pinto da; Freitas, Julyana Gomes

    2017-07-20

    To characterize the scientific production on Burnout Syndrome in the Nursingcontext, systematizing the location where the studies were carried out, the related constructs, the employed methods and their main results. An integrative review of the literature with a bibliometric approach of articles published in Portuguese, Spanish and English between 2005 and 2016. 106 articles wereincluded. Mostinvolvedprevalence, and were descriptive, quantitative studies performed in hospitals.The Southeastern and Southern regions of Brazil had the largest number of publications, and stress was the construct most related to burnout.Most of the studies used the Maslach Burnout Inventory to investigate the presence of the syndrome. New case-control and cohort studies should be carried out.Qualitative-exploratory studies are necessary to better understand Burnout Syndrome among nursing professionals usingfocus groups or interviews, as well as comparative causal studies, with the purpose of exploring the syndrome'smanifestations. Caracterizar a produção científica sobre a Síndrome do Esgotamento Profissionalno contexto da enfermagem, sistematizando os locais onde as pesquisas foram realizadas, os construtos relacionados, os métodos empregados e seus principais resultados. Revisão integrativa da literatura, com abordagem bibliométrica, em artigos na língua portuguesa, espanhola e inglesa publicados entre 2005 e 2016. Foram selecionados 106 artigos.A maioria estudos de prevalência, descritivos, quantitativos e realizados em hospitais. Nas regiões Sudeste e Sul do Brasil encontram-se o maior número de publicações, sendo o estresse o construto mais relacionado com o esgotamento profissional. A maior parte dos estudos utilizou o Maslach Burnout Inventory como meio de averiguação da presença da síndrome. Novos estudos de caso controle e coorte devem ser realizados. Pesquisas de cunho qualitativo-exploratório são necessárias para poder compreender melhor a Síndrome do

  10. Calcified Cavitating Mesenteric Lymph Node Syndrome: Case Presentation and Literature Review

    Directory of Open Access Journals (Sweden)

    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.

  11. Long-term impact after fulminant Guillain-Barré syndrome, case report and literature review

    Directory of Open Access Journals (Sweden)

    Rougé A

    2016-11-01

    Full Text Available Alain Rougé,1,2 Jérémie Lemarié,1,2 Sébastien Gibot,1,2 Pierre Edouard Bollaert1,2 1Medical Intensive Care Unit, Hôpital Central, University Hospital of Nancy, Nancy, France; 2INSERM UMRS-1116, Faculty of Medicine, University of Lorraine, Nancy, France Abstract: A 47-year-old man was admitted to the intensive care unit a few hours after ­presenting to emergency department with acute diplopia and dysphonia. Swallowing disorders and respiratory muscular weakness quickly required invasive ventilation. On day 3, the patient was in a “brain-death”-like state with deep coma and absent brainstem reflexes. Electroencephalogram ruled out brain death diagnosis as a paradoxical sleep trace was recorded. Cerebrospinal fluid analysis, electrophysiologic studies, and a recent history of diarrhea led to the diagnosis of Campylobacter jejuni-related fulminant Guillain-Barré syndrome (GBS mimicking brain death. The outcome was favorable after long Intensive Care Unit and inpatient rehabilitation stays, despite persistent disability at 9 years follow-up. This case and the associated literature review of 34 previously reported fulminant GBS patients emphasize the importance of electrophysiological investigations during clinical brain-death states with no definite cause. Fulminant GBS has a worse outcome than “standard” GBS with higher rates of severe disability (about 50%. Long-term physiotherapy and specific rehabilitation programs appear essential to improve recovery. Keywords: fulminant Guillain-Barré syndrome, brain death, electroencephalogram, C. jejuni, long-term follow 

  12. Venipuncture-induced complex regional pain syndrome: a case report and review of the literature.

    Science.gov (United States)

    Elahi, Foad; Reddy, Chandan G

    2014-01-01

    Venipuncture, the most frequently performed invasive medical procedure, is usually benign. Generally it produces only transitory mild discomfort. Venipuncture-induced neuropathic pain is hard to recognize at an early stage. Medical literature reviews show that there is not adequate medical knowledge about this important subject. The inciting incident in complex regional pain syndrome (CRPS) can often seem far too trivial to result in a condition with such severe pathophysiologic effects. The practicing physician has little information available to enable early recognition of the condition, initiation of multidisciplinary treatment modalities, and proper referral to pain specialists. We encountered a unique case of venipuncture-induced complex regional pain syndrome (CRPS). The patient is a 52-year-old school teacher with no significant past medical history, who presented initially to the Center of Pain Medicine with left upper extremity pain. The pain started while phlebotomy was performed in the patient's left antecubital area for routine blood check. The patient's pain did not improve with multiple medications, physical therapy, or several nerve blocks. The patient demonstrated all the signs and symptoms of chronic neuropathic pain of CRPS in the upper extremity with minimal response to the continuous pain management. We decided to proceed with cervical spinal cord nerve stimulation along with continuing other modalities. The patient responded to this combination. During the follow-up, we noticed that the patient's pain course was complicated by extension of the CRPS to her lower extremity. We will describe the course of treatment for the patient in this paper. In this paper we will discuss the electrical neuromodulation as an important modality in addition to the multidisciplinary pain management for a patient with venipuncture-induced chronic neuropathic pain.

  13. Challenges in the management of a patient with Cowden syndrome: case report and literature review

    Directory of Open Access Journals (Sweden)

    Melbārde-Gorkuša Inga

    2012-04-01

    Full Text Available Abstract We would like to present a patient with a classical phenotype of a rare disorder - Cowden syndrome, its diagnostics and management challenges. A breast surgeon has to be aware of this rare condition when treating a patient with breast manifestations of Cowden syndrome and has to refer the patient to a clinical geneticist for further evaluation. Sequencing of the PTEN gene showed the Asp24Gly mutation. According to the latest literature data, the lifetime risk of breast cancer for Cowden syndrome patients is 81% and surgery is a justified option to reduce the risk of breast cancer. Bilateral risk-reducing mastectomy with immediate reconstruction was performed to eliminate further risk of breast cancer. 3 years after the risk-reducing breast surgery the patient is satisfied with the outcome. This is to our best knowledge the first reported Cowden syndrome case with follow-up data after risk-reducing measures have been taken.

  14. SAPHO syndrome with affection of the mandible: diagnosis, treatment, and review of literature.

    Science.gov (United States)

    Zemann, Wolfgang; Pau, Mauro; Feichtinger, Matthias; Ferra-Matschy, Barbara; Kaercher, Hans

    2011-02-01

    The synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare syndrome of unknown etiology. Involvement of the mandible is found in almost 10% of cases. In the literature, conservative treatment is recommended most often, because decortication and partial resection are found to be ineffective and of temporary profit. We report a case of SAPHO syndrome in a 44-year-old women with unilateral hyperostosis of the mandible and massive painful swelling of the surrounding soft tissues. Owing to facial disfiguration and pain, resection of the affected bone followed by immediate reconstruction with a microvascular iliac crest flap were performed. The aim of this paper was to present the necessity of surgical intervention in SAPHO syndrome of the mandible in cases of esthetic and functional limitation. Copyright © 2011 Mosby, Inc. All rights reserved.

  15. Mandibulofacial dysostosis (Treacher Collins syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Raj Renju

    2014-01-01

    Full Text Available Treacher Collins syndrome (TCS or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable phenotypic expression. It presents with characteristic facial appearance enabling it to be easily recognizable. A case of a 10-year-old girl having TCS is briefly described in this article. A review of the etiology, clinical features, differential diagnosis, and treatment options are also discussed.

  16. Smith-Magenis Syndrome and Social Security Administration's Compassionate Allowances Initiative: An Evaluative Review of the Literature.

    Science.gov (United States)

    Burke, Shanna L; Maramaldi, Peter

    2016-08-01

    The Social Security Administration (SSA) launched the Compassionate Allowances List (CAL) in 2008. This created a mechanism for expediting review and delivery of disability benefits, while decreasing application backlog. This study hypothesized that developmental disorders, such as Smith-Magenis syndrome, may meet criterion for inclusion. An evaluative review of the literature was undertaken to determine if the expedited review criterion was met. Ten databases were searched and articles meeting pre-defined criteria were coded according to the SSA definition of disability to determine if severity indices screen in or screen out certain severity levels or exclude Smith-Magenis syndrome entirely in relation to the CAL program. It was strongly recommended that Smith-Magenis syndrome receive consideration for inclusion in the CAL.

  17. Bilateral post-traumatic gluteal compartment syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Devashis Barick

    2015-01-01

    Full Text Available Gluteal compartment is a rare site for compartment syndrome. Gluteal compartment syndrome has most commonly been described in the literature as occurring after prolonged immobility associated with substance abuse, improper operative positioning, sickle cell-induced infarct, post-traumatic and spontaneous superior gluteal artery rupture, exercise, and post-arterial embolization of the internal iliac artery prior to abdominal aortic aneurysm repair. Trauma is rarely associated with this syndrome. Gluteal compartment syndrome occurs in approximately 0.9% of trauma patients. Posttraumatic gluteal compartment syndrome develops because of edema with traumatic contusions, crush injuries and hematoma formation due to blunt superior or inferior gluteal artery injuries in all compartments of the gluteal region Only 6 previous cases have been reported in the literature. Two previous cases involved positioning for urological procedures, while the other cited causes of bilateral gluteal compartment syndrome include exercise-induced, trauma, and prolonged immobilization from substance abuse. One of the most immediately devastating results of a missed compartment syndrome is the risk of the development of rhabdomyolysis with the resulting squeal of myoglobinuria, hyperkalemia, and acidosis resulting in renal failure, shock, multiple organ failure, disseminated intravascular coagulation, and possibly death. Here we report a case of posttraumatic bilateral compartment syndrome which developed secondary to pressure due to patient being trapped under a vehicle following a vehicular accident. He was operated upon and a bilateral fasciotomy was done. Although he did not develop any renal complications, the sciatic nerve palsy on the left side did not recover. The patient is still under follow up.

  18. A systematic literature review of observational studies of the bidirectional association between metabolic syndrome and migraine.

    Science.gov (United States)

    Andreeva, V A; Galan, P; Julia, C; Fezeu, L; Hercberg, S; Kesse-Guyot, E

    2017-12-13

    To evaluate all epidemiological evidence in the literature linking the metabolic syndrome (MetS) and migraine in adults. Database (Medline, Embase; published reports up to November 2017) and manual searches were performed. Information on data collection, sample characteristics, study design, MetS and migraine assessment, and results was extracted from each relevant publication. The methodological quality of each study was also assessed. A total of 15 observational epidemiological studies in adults, published between 2009 and 2017, were retrieved. Of these, one employed a prospective design, while the rest had a cross-sectional (13 studies) or case-control (one study) design. Five studies assessed the presence of migraine in individuals with MetS, whereas 10 studies assessed the presence or risk of MetS in migraineurs. Most participants were female hospital outpatients. The sole prospective cohort study reported 11-year MetS incidence of 21.8% in migraineurs with aura, 16.8% in migraineurs without aura and 14.5% in subjects without headaches. Most studies (60%) provided no statistical estimates of association. Methodological flaws included selection biases, lack of power analysis, unsuitable research plans and no multivariable analyses. Meta-analysis was not feasible with the available data. Our systematic review has identified major gaps in knowledge and weaknesses in research that should provide an impetus for future epidemiological investigations using more rigorous methodology, large general-population prospective cohorts, and substantial data on dietary behaviours and lifestyle. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  19. Lycanthropy as a culture-bound syndrome: a case report and review of the literature.

    Science.gov (United States)

    Bou Khalil, Rami; Dahdah, Pierre; Richa, Sami; Kahn, David A

    2012-01-01

    Lycanthropy is an unusual belief or delusion that one has been transformed into an animal, or behaviors or feelings suggestive of such a belief. We report a case of lycanthropic delusions of becoming a snake in a 47-year-old woman who suffered from a major depressive disorder with psychotic features. We also present a literature review of articles published on the subject in English or French since 1975 identified via a MedLine search using the terms "lycanthropy" or "werewolf." Many case reports have described lycanthropy as a delusional disorder occurring acutely in patients who think they suffer from a demonic possession as a punishment for their acts. In these cases, symptoms are generally rapidly reversible. Lycanthropy seems to be a nonspecific manifestation of many psychiatric diseases, most commonly major depressive disorder with psychotic features. It is largely influenced by the cultural environment of the patient so that the animal species frequently represents the patient's delusional representation of evil. Lycanthropy could be considered a culture-bound syndrome that occurs in association with Axis I, DSM-IV psychiatric pathology.

  20. [Type B insulin resistance syndrome: 3 cases report and literature review].

    Science.gov (United States)

    Yang, Guoqing; Dou, Jingtao; Lyu, Zhaohui; Wang, Baoan; Gu, Weijun; Ba, Jianming; Du, Jin; Jin, Nan; Zang, Li; Chen, Kang; Guo, Qinghua; Mu, Yiming; Lu, Juming

    2016-01-01

    To understand type B insulin resistance syndrome (B-IRS) by reviewing 3 cases from our center and cases from literatures. The clinical characteristics, diagnosis, treatment and follow-up data of the 3 patients with B-IRS were evaluated. All the 3 patients were middle-aged women with severe hyperglycemia or paradoxical hypoglycemia. The clinical findings were as follows. (1)B-IRS was associated with several autoimmune diseases such as systemic lupus erythematosus (SLE) and sclerosis. (2) The metabolic abnormalities of B-IRS include weight loss, severe hyperinsulinemia, high level of adiponectin, and low level of insulin-like growth factor type 1(IGF-1) and TG. (3)B-IRS was characterized with nonspecific serological disorders (such as leukopenia, thrombocytopenia and hypoalbuminemia) and changes (decreased complements and elevated IgG and/or IgA), and with specific immunological abnormalities[such as high titer of antinuclear antibody(ANA), positive in anti-SSA, anti-SSB and anti-dsDNA antibodies). Positive in anti-insulin receptor antibody was of diagnostic value but not necessary. (4) Treatments include insulin in combination with immunosuppressive therapy. Patients with H. pylori (Hp) infection may be benefit with eradication therapy. B-IRS is rare but not difficult to identify. Treatments include therapy of the underlying diseases and high dose of insulin.

  1. RUFINAMIDE IN THE TREATMENT OF LENNOX–GASTAUT SYNDROME: REVIEW OF FOREIGN LITERATURE

    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin

    2015-01-01

    Full Text Available Lennox–Gastaut syndrome (LGS is childhood-onset epileptic encephalopathy characterized by frequent polymorphic seizures, including tonic, axial, obvious cognitive impairments, interictal EEG slow spike-wave discharges with fast activity at 10–20 Hz, which are frequently associated with tonic seizures and resistance to therapy. Treatment for LG presents great challenges due to the fact that its clinical picture is characterized by a concurrence of a few types of seizures and their resistance to drug therapy. In this connection, there are great expectations for the design of new antiepileptic drugs that have radically other mechanisms of action and must aim specially for the treatment of this severe form of epilepsy. The authors review the foreign literature on the use of the new in Russia antiepileptic drug rufinamide (Inovelon registered just for the treatment of adult patients and in children who are at least 4 years old. Rufinamide (Inovelon was registered in Russia in January 2015 as adjunctive treatment of seizures associated with LGS in patients from 4 years of age. The paper describes the mechanism of action, pharmacokinetics, efficacy, and tolerability of rufinamide in LGS. Numerous trials have demonstrated the efficacy and good tolerability of rufinamide in the treatment of LGS. 

  2. Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature.

    Science.gov (United States)

    Tortora, Domenico; Severino, Mariasavina; Accogli, Andrea; Martinetti, Carola; Vercellino, Nadia; Capra, Valeria; Rossi, Andrea; Pavanello, Marco

    2017-12-01

    PHACE syndrome (Posterior fossa malformations, large cervicofacial infantile Hemangiomas, Arterial anomalies, aortic coarctation and Cardiac abnormalities, and Eye abnormalities) is a neurocutaneous disorder including posterior fossa malformations, hemangiomas, arterial lesions, cardiac defects, and eye abnormalities. PHACE arteriopathies may be progressive and recently have been categorized based on the risk of acute ischemic stroke, increasing attention to the potentially devastating consequences of cerebrovascular complications in this syndrome. In contrast, the natural history of arteriopathy in PHACE syndrome remains poorly understood. At the moment, there are no established surgical guidelines for high-risk vasculopathies, including quasi-moyamoya, in this syndrome. We described the clinicoradiologic features of a small series of 6 patients with PHACE syndrome and quasi-moyamoya (5 female, age range 4 months to 12 years), focusing on the clinical course and surgical outcome of 3 children who were treated with encephaloduroarteriosynangiosis and encephalomyosynangiosis. In addition, we reviewed the radiologic, clinical, and surgical aspects of moyamoya vasculopathy in PHACE syndrome, providing information on 15 additional published cases. Although the natural history of arteriopathy in PHACE syndrome is poorly understood, patients with high-risk vasculopathies, such as quasi-moyamoya disease, may benefit of revascularization by using encephaloduroarteriosynangiosis and encephalomyosynangiosis. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Effects of physiotherapy in patients with shoulder impingement syndrome: a systematic review of the literature.

    Science.gov (United States)

    Kromer, Thilo O; Tautenhahn, Ulrike G; de Bie, Rob A; Staal, J Bart; Bastiaenen, Caroline H G

    2009-11-01

    To critically summarize the effectiveness of physio-therapy in patients presenting clinical signs of shoulder impingement syndrome. Systematic review. Randomized controlled trials were searched electronically and manually from 1966 to December 2007. Study quality was independently assessed by 2 reviewers using the Physiotherapy Evidence Database (PEDro) scale. If possible, relative risks and weighted mean differences were calculated for individual studies, and relative risks or standardized mean differences for pooled data, otherwise results were summarized in a best evidence synthesis. Sixteen studies were included, with a mean quality score of 6.8 points out of 10. Many different diagnostic criteria for shoulder impingement syndrome were applied. Physio-therapist-led exercises and surgery were equally effective treatments for shoulder impingement syndrome in the long term. Also, home-based exercises were as effective as combined physiotherapy interventions. Adding manual therapy to exercise programmes may have an additional benefit on pain at 3 weeks follow-up. Moderate evidence exists that passive treatments are not effective and cannot be justified. This review shows an equal effectiveness of physiotherapist-led exercises compared with surgery in the long term and of home-based exercises compared with combined physiotherapy interventions in patients with shoulder impingement syndrome in the short and long term; passive treatments cannot be recommended for shoulder impingement syndrome. However, in general, the samples were small, and different diagnostic criteria were applied, which makes a firm conclusion difficult. More high-quality trials with longer follow-ups are recommended.

  4. Os peroneum friction syndrome complicated by sesamoid fatigue fracture: a new radiological diagnosis? Case report and literature review.

    Science.gov (United States)

    Bashir, Waseem A; Lewis, Steve; Cullen, Nicholas; Connell, David A

    2009-02-01

    Injuries to the peroneal tendons are relatively common worldwide but tendon rupture without significant trauma is uncommon. Ankle mechanics can be seriously affected by disruption of one or both of the peroneal tendons although complete rupture can also remain asymptomatic. Accessory ossicles are sesamoid bones and are common findings in routine radiology of the foot and ankle. Although in the vast majority these "os" are normal variants of anatomy, they can lead to painful syndromes and suffer fractures and even undergo degenerative changes in response to overuse and trauma. Although similar syndromes have been discussed in the surgical literature, there is a lack of literature describing the use of modern imaging in the accurate diagnosis and its subsequent assistance towards appropriate management of os peroneum friction syndrome complicated by sesamoid fatigue syndrome. This article presents the plain film, sonographic and magnetic resonance imaging findings in a case of os peroneum friction syndrome complicated by a sesamoid fatigue fracture as well as reviewing the pertinent literature.

  5. Os peroneum friction syndrome complicated by sesamoid fatigue fracture: a new radiological diagnosis? Case report and literature review

    International Nuclear Information System (INIS)

    Bashir, Waseem A.; Connell, David A.; Lewis, Steve; Cullen, Nicholas

    2009-01-01

    Injuries to the peroneal tendons are relatively common worldwide but tendon rupture without significant trauma is uncommon. Ankle mechanics can be seriously affected by disruption of one or both of the peroneal tendons although complete rupture can also remain asymptomatic. Accessory ossicles are sesamoid bones and are common findings in routine radiology of the foot and ankle. Although in the vast majority these ''os'' are normal variants of anatomy, they can lead to painful syndromes and suffer fractures and even undergo degenerative changes in response to overuse and trauma. Although similar syndromes have been discussed in the surgical literature, there is a lack of literature describing the use of modern imaging in the accurate diagnosis and its subsequent assistance towards appropriate management of os peroneum friction syndrome complicated by sesamoid fatigue syndrome. This article presents the plain film, sonographic and magnetic resonance imaging findings in a case of os peroneum friction syndrome complicated by a sesamoid fatigue fracture as well as reviewing the pertinent literature. (orig.)

  6. Os peroneum friction syndrome complicated by sesamoid fatigue fracture: a new radiological diagnosis? Case report and literature review

    Energy Technology Data Exchange (ETDEWEB)

    Bashir, Waseem A.; Connell, David A. [Royal National Orthopaedic Hospital NHS Trust, Department of Radiology, London, Middlesex (United Kingdom); Lewis, Steve [Craven Cottage, Fulham Football Club, London (United Kingdom); Cullen, Nicholas [The Royal National Orthopaedic Hospital NHS Trust, Department of Orthopaedics, London, Middlesex (United Kingdom)

    2009-02-15

    Injuries to the peroneal tendons are relatively common worldwide but tendon rupture without significant trauma is uncommon. Ankle mechanics can be seriously affected by disruption of one or both of the peroneal tendons although complete rupture can also remain asymptomatic. Accessory ossicles are sesamoid bones and are common findings in routine radiology of the foot and ankle. Although in the vast majority these ''os'' are normal variants of anatomy, they can lead to painful syndromes and suffer fractures and even undergo degenerative changes in response to overuse and trauma. Although similar syndromes have been discussed in the surgical literature, there is a lack of literature describing the use of modern imaging in the accurate diagnosis and its subsequent assistance towards appropriate management of os peroneum friction syndrome complicated by sesamoid fatigue syndrome. This article presents the plain film, sonographic and magnetic resonance imaging findings in a case of os peroneum friction syndrome complicated by a sesamoid fatigue fracture as well as reviewing the pertinent literature. (orig.)

  7. Genetics and presence of non-syndromic supernumerary teeth: A mystery case report and review of literature.

    Science.gov (United States)

    Khambete, Neha; Kumar, Rahul

    2012-10-01

    Presence of supernumerary teeth is well-recognized clinical phenomenon. However, it is uncommon to find multiple supernumeraries in individuals with no other associated disease or syndrome. Presence of multiple supernumerary teeth is thought to have genetic component. We report a rare case where multiple supernumerary teeth were seen without presence of any other syndrome in 3 generations; father, son, and two grandsons. We also present a review of similar cases published in literature till date. The role of genetics in development of supernumerary teeth is highlighted.

  8. Genetics and presence of non-syndromic supernumerary teeth: A mystery case report and review of literature

    Directory of Open Access Journals (Sweden)

    Neha Khambete

    2012-01-01

    Full Text Available Presence of supernumerary teeth is well-recognized clinical phenomenon. However, it is uncommon to find multiple supernumeraries in individuals with no other associated disease or syndrome. Presence of multiple supernumerary teeth is thought to have genetic component. We report a rare case where multiple supernumerary teeth were seen without presence of any other syndrome in 3 generations; father, son, and two grandsons. We also present a review of similar cases published in literature till date. The role of genetics in development of supernumerary teeth is highlighted.

  9. Mathematical Ability of Students with Asperger Syndrome and High-Functioning Autism : A Review of Literature

    Science.gov (United States)

    Chiang, Hsu-Min; Lin, Yueh-Hsien

    2007-01-01

    This article reviews studies investigating cognitive ability and academic achievement of students with Asperger syndrome (AS) and high-functioning autism (HFA). Particular emphasis is placed on the mathematical ability of people with AS/HFA. A preliminary analysis of empirical data is presented. Findings indicate that: (1) the majority of…

  10. The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature.

    Science.gov (United States)

    Wijerathne, Buddhika T B; Meier, Robert J; Agampodi, Suneth B

    2016-09-20

    Tel Hashomer camptodactyly syndrome is a rare disease and only a few cases have been reported. Dermatoglyphics potentially provide relevant phenotypic biomarkers that were initially noted as a vital clinical feature of this disease. Dermatoglyphics possibly can indicate growth disturbances that took place during early fetal development at the time when epidermal ridges were being formed into discernable patterns. Consequently, these intrauterine effects might well have occurred in association with the expression of the Tel Hashomer camptodactyly syndrome. Therefore, this review was undertaken to provide, as far as we know, the first attempt to broadly assess dermatoglyphic features that are connected with the Tel Hashomer camptodactyly syndrome. If a developmental association between dermatoglyphics and Tel Hashomer camptodactyly can be firmly established, this would probably document that Tel Hashomer camptodactyly disease has its origins during the early fetal period. A systematic literature search was conducted using articles from PubMed (Medline), POPLINE, Trip Database, Cochrane Library, and gray literature up to 31 March 2015. The review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. Fourteen relevant publications were included in the review. There were 23 cases of patients with Tel Hashomer camptodactyly syndrome that were described in these published articles. We reviewed the dermatoglyphics of 21 available cases out of all of the published and electronically available cases of Tel Hashomer camptodactyly. Eight cases reported whorls to be the most common digital pattern with an expected rise of ridge count. Two cases show significantly high frequencies of arch patterns. Further, there were increased numbers of palmar creases, along with abnormal flexion creases or other palmar dermatoglyphic abnormalities reported in all cases. This review highlighted the desirability of thoroughly observing and

  11. Literature review and global consensus on management of acute radiation syndrome affecting nonhematopoietic organ systems.

    Science.gov (United States)

    Dainiak, Nicholas; Gent, Robert Nicolas; Carr, Zhanat; Schneider, Rita; Bader, Judith; Buglova, Elena; Chao, Nelson; Coleman, C Norman; Ganser, Arnold; Gorin, Claude; Hauer-Jensen, Martin; Huff, L Andrew; Lillis-Hearne, Patricia; Maekawa, Kazuhiko; Nemhauser, Jeffrey; Powles, Ray; Schünemann, Holger; Shapiro, Alla; Stenke, Leif; Valverde, Nelson; Weinstock, David; White, Douglas; Albanese, Joseph; Meineke, Viktor

    2011-10-01

    The World Health Organization convened a panel of experts to rank the evidence for medical countermeasures for management of acute radiation syndrome (ARS) in a hypothetical scenario involving the hospitalization of 100 to 200 victims. The goal of this panel was to achieve consensus on optimal management of ARS affecting nonhematopoietic organ systems based upon evidence in the published literature. English-language articles were identified in MEDLINE and PubMed. Reference lists of retrieved articles were distributed to conferees in advance of and updated during the meeting. Published case series and case reports of ARS, publications of randomized controlled trials of relevant interventions used to treat nonirradiated individuals, reports of studies in irradiated animals, and prior recommendations of subject matter experts were selected. Studies were extracted using the Grading of Recommendations Assessment Development and Evaluation system. In cases in which data were limited or incomplete, a narrative review of the observations was made. No randomized controlled trials of medical countermeasures have been completed for individuals with ARS. Reports of countermeasures were often incompletely described, making it necessary to rely on data generated in nonirradiated humans and in experimental animals. A strong recommendation is made for the administration of a serotonin-receptor antagonist prophylactically when the suspected exposure is >2 Gy and topical steroids, antibiotics, and antihistamines for radiation burns, ulcers, or blisters; excision and grafting of radiation ulcers or necrosis with intractable pain; provision of supportive care to individuals with neurovascular syndrome; and administration of electrolyte replacement therapy and sedatives to individuals with significant burns, hypovolemia, and/or shock. A strong recommendation is made against the use of systemic steroids in the absence of a specific indication. A weak recommendation is made for the use

  12. Ageing of people with Down's syndrome: a systematic literature review from 2000 to 2014.

    Science.gov (United States)

    Covelli, Venusia; Raggi, Alberto; Meucci, Paolo; Paganelli, Chiara; Leonardi, Matilde

    2016-03-01

    Life expectancy of people with Down's syndrome (DS) has increased considerably, now exceeding 60 years. People with DS start to get old around the age of 45. By referring to the WHO's International Classification of Functioning, Disability and Health (ICF) biopsychosocial perspective, this study aimed to present an up-to-date review of the past 14 years of literature concerning the ageing of people with DS. PUBMED, PsycInfo and the Social Sciences Citation Index were searched for studies published between 2000 and 2014. Studies were selected if they were written in English, focused on people more than 45 years of age with DS, and if terms related to DS and ageing appeared in either the title or the abstract. A total of 30 studies were retrieved and their meaningful concepts were linked to the ICF. In total, 38 ICF categories were identified that were mainly related to intellectual functions (b117) (19%), general metabolic functions (b540) (7.4%), mobility of joint functions (b710), muscle power functions (b730) (4.2%), gait pattern functions (b770) (4.2%) and structure of the brain (s110) (4.3%). Only two studies considered environmental factors, and only one considered the joint analysis of health condition and environmental factors. Data about the ageing of people with DS are predominantly based on medical evaluations and descriptions of their physical impairments. Few attempts have been made towards a comprehensive assessment of elderly people with DS with a joint analysis of their health condition and its interaction with environmental factors.

  13. Using computational support in motor ability analysis of individuals with Down syndrome: Literature review.

    Science.gov (United States)

    Siebra, Clauirton A; Siebra, Helio A

    2018-04-01

    The lack of motor ability is one of the main Down syndrome (DS) effects. However, there are several types of motor disorders that can be attenuated or corrected if they are early identified and properly analyzed. The aim of our study is to support the local Physical Activity research group, which works with about 25 DS children, by means of computational resources for motor analysis. To that end, we first needed to identify the main computational approaches that support the motor analysis of DS individuals, if they are already connected to intervention programs, and potential opportunities to extend the current state of the art. We carried out a systematic review that identified 28 papers from the current literature. These papers were then analyzed to answer the research questions defined in our study. Our main findings were: (1) the temporal distribution of papers shows this area is new and it is starting to create a body of knowledge that in fact supports motor treatments of DS individuals; (2) there is a diversity of studies that consider different research directions such as comparisons of motor features of DS with non-DS individuals, characterization of DS motor features, and approaches for intervention programs to improve DS motor abilities; (3) there are several types of sensing hardware that enables the development of studies from different perspectives; (4) spatial monitoring is performed but only in laboratory conditions; (5); mathematical tools are largely used while strategies based on artificial intelligence for automated analysis are ignored; and (6) proposals for DS post-intervention monitoring are not found in the literature. DS motor analysis is still a new research area and it is not mature yet. Thus, the use of computational resources is very pragmatic and focused only on mathematical tools that support the numerical analysis of the acquired data. The main proposals for motor analysis are performed in laboratory, so that there are several

  14. Pregnancy-related acute aortic dissection in Marfan syndrome: A review of the literature.

    Science.gov (United States)

    Smith, Katherine; Gros, Bernard

    2017-05-01

    A well-established association exists between acute aortic dissection and pregnancy, particularly in women with Marfan syndrome. However, there is debate regarding appropriate management guidelines. In particular, there are differing opinions regarding when prophylactic aortic root repair should be recommended as well as the efficacy of beta blockers in this clinical scenario. The current study evaluated 10 years of published literature (2005-2015) in the PubMed/Medline database. Fifty articles, describing 72 cases of women who presented with aortic dissection in the antepartum or postpartum period were identified. Comparisons on demographic variables and clinical outcomes between cases of women with Marfan syndrome (n = 36) and without Marfan syndrome (n = 36) were conducted. There were no significant differences in demographics (age, gravidity, parity) between the Marfan and non-Marfan cases. Marfan patients presented with antepartum dissections significantly earlier in pregnancy than those without Marfan syndrome (P = .002). However, there were no significant difference between the 2 groups in maternal mortality, fetal mortality, or obstetric outcomes (mode of delivery and gestational age at delivery). Eight cases described events in Marfan women with an aortic root diameter ≤40 mm. Six events occurred in Marfan women who were managed with beta blockers. Current guidelines rely on aortic root diameter for stratification of Marfan women into risk categories, but we identified several cases that would be missed by these guidelines. Specifically, the existing literature suggest that women with Marfan syndrome should take precautions throughout pregnancy, rather than the third trimester. © 2017 Wiley Periodicals, Inc.

  15. Phenotypic variability of the cat eye syndrome. Case report and review of the literature.

    Science.gov (United States)

    Rosias, P R; Sijstermans, J M; Theunissen, P M; Pulles-Heintzberger, C F; De Die-Smulders, C E; Engelen, J J; Van Der Meer, S B

    2001-01-01

    We present a male infant with preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome. The clinical features in our patient show phenotypic overlap with the cat eye syndrome, as illustrated by the review of 105 reported cases. Cytogenetic analysis revealed a supernumerary marker chromosome, which was identified by microdissection and fluorescence in situ hybridization as an isodicentric chromosome 22(pter --> q11.2::q11.2 --> pter). It was proved with probes specific for the cat eye syndrome critical region that this region was present in quadruplicate in the propositus. We conclude that CES is characterized by large phenotypic variability, ranging from near normal to severe malformations, as reflected in the neurodevelopmental outcome. Preauricular skin tags and/or pits are the most consistent features, and suggest the presence of a supernumerary bisatellited marker chromosome 22 derived from duplication of the CES critical region.

  16. Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.

    Science.gov (United States)

    Swarr, Daniel T; Bloom, Douglas; Lewis, Richard Alan; Elenberg, Ewa; Friedman, Ellen M; Glotzbach, Caron; Wissman, Scott D; Shaffer, Lisa G; Potocki, Lorraine

    2010-03-01

    Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p11.2p12 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina. In this study, six patients with the Potocki-Shaffer syndrome were identified and evaluated using a multidisciplinary protocol that included assessments by a geneticist, ophthalmologist, otolaryngologist, orthopedist, nephrologist, audiologist, and neuropsychologist. Diagnostic studies included skeletal survey, magnetic resonance imaging of the brain, renal ultrasound, complete blood count, comprehensive metabolic panel, thyroid studies, and urinalysis. Using array comparative genomic hybridization, we further characterized the deletion in five of these patients. The results of these evaluations were combined with a comprehensive review of reported cases. Our data highlight the characteristic facial features, biparietal foramina, moderate-to-severe developmental delay and intellectual disability, myopia and strabismus, and multiple exostoses seen with this disorder. We also identify for the first time an association of Potocki-Shaffer syndrome with sensorineural hearing loss and autistic behaviors. Finally, we provide recommendations for the health maintenance of patients with Potocki-Shaffer syndrome. (c) 2010 Wiley-Liss, Inc.

  17. Rubella associated with hemophagocytic syndrome. First report in a male and review of the literature

    Directory of Open Access Journals (Sweden)

    Makram Koubaa

    2012-08-01

    Full Text Available A 22-year-old man was admitted to our hospital because of fever, skin rash and epistaxis. Physical examination revealed fever (39.5°C, generalized purpura, lymphadenopathy and splenomegaly. Blood tests showed pancytopenia. Bone marrow aspiration and biopsy showed hemophagocytosis with no evidence of malignant cells. Anti rubella IgM antibody were positif and the IgG titers increased from 16 to 50 UI/mL in 3 days. Therefore, he was diagnosed to have rubella-associated hemophagocytic syndrome. We report herein the first case in a man and the sixth case of rubella-associated hemophagocytic syndrome in the literature by search in Pub Med till March 2012.

  18. Prader-willi syndrome: A case report and a Chinese literature review.

    Science.gov (United States)

    Zhu, Junzhen; Cao, Qinying; Zhang, Ning; Zhao, Lijuan

    2013-11-01

    Prader-Willi syndrome (PWS) is a genetic disorder, resulting from lack of gene expression on the paternally inherited chromosome 15. It is important to determine diagnostic methods for PWS for early treatment. In this study, we report a newborn with Prader-willi syndrome. We further summarized the genetic testing results in the Chinese literature and the relevance of high resolution chromosome and genome-wide copy number variation analysis. There is a heterozygosis deletion of a 5 Mb region in the paternal chromosome 15q11.3-q13.3 by genome-wide copy number variation analysis. However, there is no abnormality in high resolution chromosome karyotype analysis. In conclusion, genome-wide copy number variation analysis is an effective and specific diagnosis method, which will provide scientific evidence for the clinical diagnosis and early treatment of PWS.

  19. Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Georgia Avgitidou

    2015-01-01

    Full Text Available A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5 in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture. The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture. In addition to describing the case with a novel mutation here we review the current literature on brittle cornea syndrome pathogenesis, clinical findings, and therapy.

  20. Childhood subdural hemorrhage, macrocephaly, and coagulopathy associated with Prader-Willi syndrome: case report and review of the literature.

    Science.gov (United States)

    Carr, Robert B; Khanna, Paritosh C; Saneto, Russell P

    2012-07-01

    A 16-month-old girl with a history of Prader-Willi syndrome and progressive macrocephaly manifested large, bilateral, subdural hemorrhages of differing ages on magnetic resonance imaging. Subsequent evaluation revealed a deficiency of von Willebrand factor, but after repeated evaluations, no conclusive evidence of nonaccidental trauma became apparent. Subdural hemorrhages of varying ages are frequently associated with nonaccidental trauma during early childhood. However, several uncommon conditions may present as subdural hemorrhages and thus mimic nonaccidental trauma. Our patient demonstrates a combination of Prader-Willi syndrome, von Willebrand factor deficiency, and enlargement of the extra-axial spaces. All of these in isolation were associated with subdural hemorrhages. We review the scant literature on subdural hemorrhages in Prader-Willi syndrome and other conditions that mimic nonaccidental trauma. Copyright © 2012 Elsevier Inc. All rights reserved.

  1. Rheumatoid arthritis with Sjogren's syndrome and MALT lymphoma of the parotid gland, associatedwith multiple myeloma: Description of a case and review of literature

    Directory of Open Access Journals (Sweden)

    Vadim Romanovich Gorodetsky

    2010-01-01

    Full Text Available The paper provides a detailed description of a rare case of rheumatoid arthritis concurrent with Sjogren's syndrome, MALT lymphoma of the parotid gland, and multiple myeloma. It presents a review of literature

  2. "Choke" vessels between vascular territories of the abdominal wall: literature review and rare case of Leriche's syndrome.

    Science.gov (United States)

    Ye, Xuan; Rozen, Warren M; Alonso-Burgos, Alberto; Ashton, Mark W

    2012-11-01

    We undertook a review of the anatomical changes of "choke" vessels between the internal thoracic artery (ITA) and deep inferior epigastric artery (DIEA), as highlighted by a case of aortoiliac occlusive disease (Leriche's syndrome), and discuss the physiological concepts observed with regard to surgical delay procedures within the abdominal wall performed prior to abdominal cutaneous free flaps and coronary artery bypass grafting. Computed tomographic angiography (CTA) was undertaken on a patient with a rare case of Leriche's syndrome and a literature review of over 200 references on the anatomy, physiology and clinical uses of choke vessels in the abdominal wall was undertaken. The CTA demonstrated that in patients with Leriche's syndrome, there is a marked dilatation of all ITA-DIEA pathways and increased flow through choke vessels. If these changes can be surgically replicated in the form of a delay procedure for patients seeking to undergo autologous breast construction, this could improve the outcomes of abdominal cutaneous free flaps and coronary artery bypass grafting. We accordingly propose three surgical methods for augmenting blood flow to the abdominal wall: a) ligation of the DIEA; b) ligation of the distal ITA; and c) creation of an arterio-venous fistulae in the DIEA. Our review of the literature confirmed the viability of these propositions. The dilatation of choke vessels in response to increased haemodynamic stress may thus be utilised to enhance blood supply to tissues prior to transfer and can be achieved through simple and minimally invasive methods. Copyright © 2012 Wiley Periodicals, Inc.

  3. Capgras syndrome in Parkinson's disease: two new cases and literature review.

    Science.gov (United States)

    Cannas, Antonino; Meloni, Mario; Mascia, Marcello Mario; Solla, Paolo; Cocco, Luigi; Muroni, Antonella; Floris, Gianluca; Di Stefano, Francesca; Marrosu, Francesco

    2017-02-01

    The Capgras syndrome (CS) is a rare psychiatric disorder. CS is classified as a delusional misidentification syndrome. Initially, CS was described in paranoid schizophrenia and schizoaffective disorders. CS has also been reported in neurodegenerative diseases such as Alzheimer's disease and Lewy body dementia. To date, there are very few descriptions of the occurrence of CS in idiopathic Parkinson's disease (PD), with or without dementia. Considering the recent observation of two new cases in PD patients, a systematic overview of the literature published between 1976 and 2016 reporting CS in PD was conducted. The purpose of this article is to examine the phenomenon in people with PD with and without dementia, the psychopathologic context in which it happened, the role played by the dopaminergic medications and to define useful therapeutic strategies. Our CS cases occurred in two elderly patients with advanced PD and cognitive impairment, respectively, after an acute stressor event and after an increase of the total daily dose of levodopa. In light of our observations and the cases reported in the literature, we argue that CS is an acute or subacute psychotic disorder occurring mostly in PD with dementia. Besides, the increase in brain dopamine levels induced by acute stressful events and/or dopamine-enhancing medications should be considered as a possible causal mechanism of CS in patients with advanced stages of PD and cognitive decline.

  4. Posterior Reversible Encephalopathy Syndrome in Pediatric Hematologic-Oncologic Disease: Literature Review and Case Presentation

    Science.gov (United States)

    ARZANIAN, Mohammad Thaghi; SHAMSIAN, Bibi Shahin; KARIMZADEH, Parvaneh; KAJIYAZDI, Mohammad; MALEK, Fatima; HAMMOUD, Mohammad

    2014-01-01

    Objective Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological disease entity, which is represented by characteristic magnetic resonance imaging (MRI) findings of subcortical/cortical hyperintensity in T2-weighted sequences. It is more often seen in parietaloccipital lobes, and is accompanied by clinical neurological changes. PRES is a rare central nervous system (CNS) complication in patients with childhood hematologic-oncologic disese and shows very different neurological symptoms between patients, ranging from numbness of extremities to generalized seizure. In this article, we will review PRES presentation in hematologic-oncologic patients. Then, we will present our patient, a 7-year-old boy with Evans syndrome on treatment with cyclosporine, mycophenolate mofetil (MMF) and prednisone, with seizure episodes and MRI finding in favour of PRES. PMID:24949044

  5. Iatrogenic Cushing syndrome in patients receiving inhaled budesonide and itraconazole or ritonavir: two cases and literature review.

    Science.gov (United States)

    Blondin, Marie-Christine; Beauregard, Hugues; Serri, Omar

    2013-01-01

    To present two cases of iatrogenic Cushing syndrome caused by the interaction of budesonide, an inhaled glucocorticoid, with ritonavir and itraconazole. We present the clinical and biochemical data of two patients in whom diagnosis of Cushing syndrome was caused by this interaction. We also reviewed the pertinent literature and management options. A 71-year-old man was treated with inhaled budesonide for a chronic obstructive pulmonary disease and itraconazole for a pulmonary aspergillosis. The patient rapidly developed a typical Cushing syndrome complicated by bilateral avascular necrosis of the femoral heads. Serum 8:00 AM cortisol concentrations were suppressed at 0.76 and 0.83 μg/dL on two occasions. The patient died 4 days later of a massive myocardial infarction. The second case is a 46-year-old woman who was treated for several years with inhaled budesonide for asthma. She was put on ritonavir, a retroviral protease inhibitor, for the treatment of human immunodeficiency virus (HIV). In the following months, she developed typical signs of Cushing syndrome. Her morning serum cortisol concentration was 1.92 μg/dL. A cosyntropin stimulation test showed values of serum cortisol of Cushing syndrome and secondary adrenal insufficiency due to the association of inhaled corticosteroids with itraconazole or ritonavir.

  6. Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature

    International Nuclear Information System (INIS)

    Nash, R.; Shojania, A.M.

    1987-01-01

    The hematological aspects of the original case of Rhmod are reported. The subject, as in other reported cases, had a chronic hemolytic anemia characterized by stomatocytosis, reduced osmotic fragility, and abnormal autohemolysis correctable with the addition of glucose. The 51 Cr red cell survival studies showed the spleen to be the preferential site of red cell destruction and splenectomy produced a dramatic improvement in red cell survival. The topic of Rh deficiency syndrome (Rhnull and Rhmod) is briefly reviewed with regard to the number of cases reported, to genetic aspects, to the hematological findings, and to the results of splenectomy

  7. The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports

    Directory of Open Access Journals (Sweden)

    Lazić, E.

    2016-04-01

    Full Text Available Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes. The aim of the study was to review the current literature on this topic and to present the characteristics of craniofacial and cervicovertebral morphology and subsequent anomalies in three patients with Crouzon syndrome, Treacher Collins syndrome and cleidocranial dysplasia. Materials and Methods: A comprehensive electronic search was performed using PubMed via Medline, Web of Science and SCOPUS.A manual search involved references form articles retrieved for possible inclusion. There were no restrictions as to date of publication, study design or language. The search, evaluation of relevant articles, and their critical appraisal were performed by two independent judges. Discrepancies between reviewers were resolved through a consensus with a third party. Case reports: Additionally, this paper presents a radiographic analysis of craniofacial and cervicovertebral morphology in patients with cleidocranial dysplasia, Crouzon, and Treacher Collins syndromes. The most characteristic findings of cervicovertebral morphology were the presence of cervical spine fusions in all three patients. The intervertebral fusions in patients with Crouzon and TreacherCollins syndromes have been characterized with "block vertebrae". Cervicovertebral complex of the patient with cleidocranialdysplasia is characterized by delayed mineralization of vertebral bodies (C1–C7. Results: Although craniofacial and cervicovertebral anomalies in presented syndromes have different phenotype expression, the vast majority of cases are caused by mutations in specific, syndrome-related genes (FGFR2, FGFR3, RUNX2, TCOF1, POLR1C,POLR1D. Craniofacial anomalies, that include changes in development of hard and soft tissues, were considered as traditional concomitant of presented

  8. Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature.

    Science.gov (United States)

    Toutain, A; Plée, Y; Ployet, M J; Benoit, S; Perrot, A; Sembely, C; Barthez, M A; Moraine, C

    1997-01-01

    Report of a case and review of the literature: We report the case of a seven-year-old female kabuki patient suffering from severe bilateral deafness related to Mondini dysplasia and ossicular anomalies. A review of the literature in English confirms that hearing loss is a major component of Kabuki Syndrome (KS) with a frequency at around 32%. However the possible mechanisms have not been fully described and hearing loss is often attributed to otitis media, but one reported case had severe ossicular malformations, two had sensorineural deafness and three others had mixed deafness. Our observation is the first reported case of Mondini dysplasia in KS. Awareness by physicians of this problem has a major practical consequence as diagnosis of Mondini dysplasia implies searching for and surgical prevention and treatment of perilymphatic fistula in order to prevent meningitis.

  9. Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

    Science.gov (United States)

    Hart, Joseph; Miriyala, Kalpana

    2017-09-01

    Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes. Though the association between spina bifida and WS1 is now well-documented, no study has attempted to characterize the range of spina bifida phenotypes seen in WS. Spina bifida encompasses several diagnoses with a wide scope of clinical severity, ranging from spina bifida occulta to myelomeningocele. We present a patient with Waardenburg syndrome type 1 caused by a novel missense variant in PAX3, presenting with myelomeningocele, Arnold-Chiari malformation, and hydrocephalus at birth. Additionally, we review 32 total cases of neural tube defects associated with WS. Including this report, there have been 15 published cases of myelomeningocele, 10 cases of unspecified spina bifida, 3 cases of sacral dimples, 0 cases of meningocele, and 4 cases of miscellaneous other neural tube defects. Though the true frequency of each phenotype cannot be determined from this collection of cases, these results demonstrate that Waardenburg syndrome type 1 carries a notable risk of severe neural tube defects, which has implications in prenatal and genetic counseling. © 2017 Wiley Periodicals, Inc.

  10. Trousseau's Syndrome Caused by Intrahepatic Cholangiocarcinoma: An Autopsy Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Takashi Yuri

    2014-05-01

    Full Text Available An autopsy case report of Trousseau's syndrome caused by intrahepatic cholangiocarcinoma is presented, and seven previously reported cases are reviewed. A 73-year-old woman experiencing light-headedness and dementia of unknown cause for 6 months developed severe hypotonia. A hypointense lesion compatible with acute cerebral infarction was detected by magnetic resonance imaging. Abdominal computed tomography revealed an ill-defined large liver mass in the right lobe. The mass was not further investigated because of the patient's poor condition. She died of multiple organ failure, and an autopsy was conducted. Postmortem examination revealed intrahepatic cholangiocarcinoma, fibrous vegetations on the mitral valves and multiple thromboemboli in the cerebrum, spleen and rectum. Trousseau's syndrome is defined as an idiopathic thromboembolism in patients with undiagnosed or concomitantly diagnosed malignancy. This syndrome is encountered frequently in patients with mucin-producing carcinomas, while the incidence in patients with intrahepatic cholangiocarcinoma is uncommon. We found that tissue factor and mucin tumor marker (CA19-9, CA15-3 and CA-125 expression in cancer cells may be involved in the pathogenesis of thromboembolism. A patient with unexplained thromboembolism may have occult visceral malignancy; thus, mucin tumor markers may indicate the origin of a mucin-producing carcinoma, and postmortem examination may play an important role in revealing the hidden malignancy.

  11. Prenatal diagnosis of Joubert syndrome: A case report and literature review.

    Science.gov (United States)

    Zhu, Lingling; Xie, Limei

    2017-12-01

    Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling. Prenatal diagnosis is rare. Magnetic resonance imaging (MRI) is usually the first-choice diagnostic modality with typical brain images characterized by the molar tooth sign. We describe a case of JS prenatally and Dandy-Walker malformation for the differential diagnosis based on ultrasonograms. We also review the etiology, imaging features, clinical symptoms, and diagnosis of JSRD. A 22-year-old woman was pregnant at 27 1/7 weeks' gestation with fetal cerebellar vermis hypoplasia. Fetal ultrasonography and MRI confirmed a diagnosis of JS at our center. The couple finally opted to terminate the fetus, which had a normal appearance and growth parameters. The couple also had an AHI1 gene mutation on chromosome 6. Currently, a diagnosis of JS is commonly made after birth. Fewer cases of prenatal diagnosis by ultrasonography have been made, and they are more liable to be misdirected because of some nonspecial features that also manifest in Dandy-Walker malformation, cranio-cerebello-cardiac syndrome, and so on. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  12. Eye Movement Desensitization Reprocessing as Treatment for Chronic Pain Syndromes: A Literature Review.

    Science.gov (United States)

    Tefft, Angela J; Jordan, Irma O

    2016-04-05

    Chronic pain is public health problem in the United States, costing upwards of $560 to $635 billion annually. Guidelines consistently recommend psychological treatment for chronic pain. Eye movement desensitization reprocessing (EMDR) psychotherapy may provide an alternate approach to treating chronic pain. Review of literature to evaluate the effectiveness of EMDR in the treatment of chronic pain. A literature search of seven databases was conducted to find relevant studies addressing the use of EMDR for chronic pain. Most studies reported improvement in pain and psychological indices with EMDR. Because most literature reported case studies, the results have limited generalizability. However, for clients who suffer from chronic pain, EMDR is a reasonable treatment alternative. © The Author(s) 2016.

  13. Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

    Science.gov (United States)

    Casey, Ruth T; Warren, Anne Y; Martin, Jose Ezequiel; Challis, Benjamin G; Rattenberry, Eleanor; Whitworth, James; Andrews, Katrina A; Roberts, Thomas; Clark, Graeme R; West, Hannah; Smith, Philip S; Docquier, France M; Rodger, Fay; Murray, Vicki; Simpson, Helen L; Wallis, Yvonne; Giger, Olivier; Tran, Maxine; Tomkins, Susan; Stewart, Grant D; Park, Soo-Mi; Woodward, Emma R; Maher, Eamonn R

    2017-11-01

    The co-occurrence of pheochromocytoma (PC) and renal tumors was linked to the inherited familial cancer syndrome von Hippel-Lindau (VHL) disease more than six decades ago. Subsequently, other shared genetic causes of predisposition to renal tumors and to PC, paraganglioma (PGL), or head and neck paraganglioma (HNPGL) have been described, but case series of non-VHL-related cases of renal tumor and pheochromocytoma/paraganglioma tumor association syndrome (RAPTAS) are rare. To determine the clinical and molecular features of non-VHL RAPTAS by literature review and characterization of a case series. A review of the literature was performed and a retrospective study of referrals for investigation of genetic causes of RAPTAS. Literature review revealed evidence of an association, in addition to VHL disease, between germline mutations in SDHB, SDHC, SDHD, TMEM127, and MAX genes and RAPTAS [defined here as the co-occurrence of tumors from both classes (PC/PGL/HNPGL and renal tumors) in the same individual or in first-degree relatives]. In both the literature review and our case series of 22 probands with non-VHL RAPTAS, SDHB mutations were the most frequent cause of non-VHL RAPTAS. A genetic cause was identified in 36.3% (8/22) of kindreds. Renal tumors and PC/PGL/HNPGL tumors share common molecular features and their co-occurrence in an individual or family should prompt genetic investigations. We report a case of MAX-associated renal cell carcinoma and confirm the role of TMEM127 mutations with renal cell carcinoma predisposition. Copyright © 2017 Endocrine Society

  14. Acute Abdominal Compartment Syndrome as a Complication of Percutaneous Nephrolithotomy: Two Cases Reports and Literature Review

    Directory of Open Access Journals (Sweden)

    Jing Tao

    2016-09-01

    Full Text Available Percutaneous nephrolithotomy (PCNL is a technique commonly used to remove large or multiple kidney stones and stones in the inferior calyx, with the advantages of lower morbidity rates, decrease in post-operative pain with faster recovery. Intra-abdominal irrigation fluid extravasation which leads to abdominal hypertension is a rare complication of PCNL with little reports. Early detection of intra-abdominal extravagation is very important to prevent morbidity and mortality. We present two cases and review the literature.

  15. Pregnancy and Delivery in Ehlers-Danlos Syndrome (Hypermobility Type: Review of the Literature

    Directory of Open Access Journals (Sweden)

    Indranil Dutta

    2011-01-01

    Full Text Available Ehlers-Danlos syndrome (EDS is a group of connective tissue disorders which are divided into various distinguishable phenotypes. The type of EDS determines the potential obstetric complications. Due to the spectrum of clinical manifestation and overlap between phenotypes, there are no standardised obstetric management guidelines. Existing literature illustrates different obstetric management in hypermobility type of EDS, including uneventful term vaginal deliveries as well as preterm cesarean section deliveries. This paper discusses obstetric management of a woman with EDS hypermobility type. Cesarean section was deemed the most appropriate delivery method in this patient due to the possible complications including risk of joint dislocation and pain morbidity. No obstetric complications were experienced, and good maternal and neonatal outcomes were achieved.

  16. Functional Brain Imaging in Cornelia de Lange Syndrome: Case Report and Literature review.

    Science.gov (United States)

    Silva-Hernández, Frieda; Rodríguez-Cuadrado, Gloria I; Martin-Ruaigip, Ralph J; Barreras-Ávila, Lourdes; González-Chevere, Brenda; Valentin-Rivera, Roberto; Labat-Alvarez, Eduardo

    2015-01-01

    Functional brain imaging with brain single photon emission computer tomography (Brain SPECT) has been used for many years in the evaluation of multiple neuro-degenerative and neuro-developmental disorders. Brain SPECT is a nuclear medicine tomographic study performed with a lipophilic radiopharmaceutical labeled with 99mTc-pertechnetate. It is a cerebral perfusion agent that depicts the global and regional perfusion patterns in the cortical gray matter and subcortical structures. Cornelia de Lange syndrome (CdLS) is a rare neuro-developmental and genetic condition, associated to several malformations. There are a limited number of cases reported in the medical literature and few of them report neuro-radiological and/or neuro-pathologic abnormalities. We report a case of a 15 year old patient, clinically diagnosed at birth with CdLS, who presents limited anatomical findings on Computed Tomography and Magnetic Resonance Imaging. To the best of our knowledge, this is the first report of the Brain SPECT findings in this syndrome.

  17. Stewart-Treves syndrome – case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Marta Koper

    2014-09-01

    Full Text Available Introduction . Chronic lymphedema, mainly due to total mastectomy with axillary lymph nodes dissection for breast cancer, can induce development of rare and highly malignant cutaneous angiosarcoma. This condition is called Stewart-Treves syndrome (STS. There are only about 400 cases of STS reported in the literature. The long-term prognosis is poor; 5-year survival is up to 10%. Limb amputation appears to be the treatment of choice. Objective . To present a case of Stewart-Treves syndrome with a fatal outcome, which developed 12 years after mastectomy with lymphadenectomy. Case report . A 65-year-old woman was admitted to our department for confluent purpuric macules, hemorrhagic blisters, and violaceous-black nodules, involving the whole left arm and forearm, with chronic severe lymphedema of the extremity. She had a history of left-sided breast cancer 12 years previously, treated with mastectomy with excision of axillary lymph nodes; subsequently, the failure of lymph drainage and lymph stasis developed. Histopathological examination of the tumor was consistent with angiosarcoma. The patient was disqualified from a surgical procedure due to the late stage of malignancy and died approximately a month later. Conclusions . Given unsatisfactory treatment options, the prevention of long-lasting lymphedema is crucial to improve prognosis of patients with breast cancer.

  18. Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.

    Science.gov (United States)

    Geilswijk, Marianne; Bendstrup, Elisabeth; Madsen, Mia Gebauer; Sommerlund, Mette; Skytte, Anne-Bine

    2018-02-13

    Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominantly inherited cancer predisposition syndrome associated with an increased risk of spontaneous pneumothorax (SP) and renal cell carcinoma in the adult population. Recent studies suggest that BHD accounts for up to 10% of all SP in adults and BHD in children with SP have been reported. To explore to what extent BHD is the cause of childhood pneumothorax, we studied a Danish BHD cohort consisting of 109 cases from 22 families. Clinical data was gathered by review of medical records. A systematic literature search concerning childhood and adolescence pneumothorax in BHD was performed and identified publications reviewed. In our cohort, three of 109 BHD cases experienced childhood pneumothorax, corresponding to a prevalence of 3%. Reviewing the literature, data regarding more than 800 BHD cases were covered. Only seven previously published cases of childhood pneumothorax in BHD were identified. Our findings suggest that BHD is likely the cause of a larger subset of childhood pneumothoraces than hitherto recognized. Awareness of BHD as a cause of childhood pneumothorax needs to be raised to provide patients and relatives with the possibility of specialized management of SP and regular renal cancer surveillance. © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

  19. Prenatal diagnosis of prune-belly syndrome at 13 weeks of gestation: case report and review of literature.

    Science.gov (United States)

    Papantoniou, Nikolaos; Papoutsis, Dimitrios; Daskalakis, Georgios; Chatzipapas, Ioannis; Sindos, Michael; Papaspyrou, Irini; Mesogitis, Spiridon; Antsaklis, Aris

    2010-10-01

    We present a case report of a foetus with Prune-Belly syndrome (PBS) which was diagnosed sonographically during the 13th week of gestation and review of the literature. Sonographic diagnosis was based on abnormally distended urinary bladder and abdomen and absence of 'keyhole sign'. Termination was performed on parental request and post-mortem examination revealed absence of abdominal wall musculature and the distended urinary bladder in a male foetus. Prenatal diagnosis of PBS is based on ultrasound and is usually diagnosed in the second trimester. In the first trimester there are very few reports to date. Prognosis and possible treatment options are herein discussed as well as the underlying mechanisms that may explain the clinical presentation of the syndrome.

  20. Cellular Neurothekeoma in a Female with Guillain-Barré Syndrome: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Divya Sachdev

    2014-11-01

    Full Text Available Cellular neurothekeoma is a rare cutaneous tumor that occurs more frequently in women. A 68-year-old female with a history of left nasal alar basal cell carcinoma and Guillain-Barré syndrome presented to the clinic with a 3-mm firm skin-colored papule with scattered telangiectasias. Histopathologic examination with immunochemistry of the lesion was consistent with cellular neurothekeoma. It stained positive for microphthalmia transcription factor and NKI-C3 and negative for HMB-45 and S-100. The lesion was excised with 3-mm margins, and no recurrence was noted within 1 year of follow-up. We present a case of cellular neurothekeoma in a patient with a history of Guillain-Barré syndrome as well as a review of the literature. Our case report is unique in that no prior association has been found in the literature between cellular neurothekeoma and Guillain-Barré syndrome. © 2014 S. Karger AG, Basel

  1. Rituximab for the treatment of type B insulin resistance syndrome: a case report and review of the literature.

    Science.gov (United States)

    Iseri, K; Iyoda, M; Shikida, Y; Inokuchi, T; Morikawa, T; Hara, N; Hirano, T; Shibata, T

    2017-12-01

    Type B insulin resistance syndrome is a rare disease characterized by refractory transient hyperglycaemia and severe insulin resistance associated with circulating anti-insulin receptor antibodies. A standardized treatment regimen for type B insulin resistance syndrome has yet to be established. We report the case of a 64-year-old man undergoing haemodialysis for antineutrophil cytoplasmic antibody-associated vasculitis and diabetic nephropathy, who developed rapid onset of hyperglycaemia (glycated albumin 52.1%). Type B insulin resistance syndrome was diagnosed, on the basis of positivity for anti-insulin receptor antibodies and the man's autoimmune history of antineutrophil cytoplasmic antibody-associated vasculitis and idiopathic thrombocytopenic purpura. Although severe hyperglycaemia persisted in spite of corticosteroids and high-dose insulin therapy, rituximab treatment resulted in remarkable improvement of the man's severe insulin resistance and disappearance of anti-insulin receptor antibodies without any adverse effects. According to a literature review of 11 cases in addition to the present case, rituximab appears to be a safe and effective strategy for the treatment of corticosteroid-resistant type B insulin resistance syndrome. © 2017 Diabetes UK.

  2. Iatrogenic Cushing's syndrome and topical steroid therapy: case series and review of the literature.

    Science.gov (United States)

    Decani, Sem; Federighi, Veronica; Baruzzi, Elisa; Sardella, Andrea; Lodi, Giovanni

    2014-12-01

    Topical corticosteroids are considered first-line therapy in patients with chronic inflammatory oral mucosal diseases; among them, clobetasol propionate is one of the most widely used in oral medicine. Under physiological conditions, the transmucosal application is characterized by a significantly greater absorption than the skin application. Contrary to many publications about the side effects of topical corticosteroids in dermatology, few studies have investigated the systemic effects due to local application of these drugs on oral mucosa. Although topical steroid therapy for the management of oral diseases is generally associated with local adverse effects (candidiasis, stomatopyrosis, and hypogeusia), these drugs can also lead to systemic side effects, such as suppression of the hypothalamic-pituitary-adrenal axis and Cushing's syndrome. This review reports five cases of systemic adverse effects caused by clobetasol propionate topical treatment.

  3. FEBRILE INFECTION-RELATED EPILEPSY SYNDROME (FIRES IN SCHOOLCHILDREN: LITERATURE REVIEW AND OWN OBSERVATIONS

    Directory of Open Access Journals (Sweden)

    S. L. Kulikova

    2016-01-01

    Full Text Available FIRES (febrile infection-related epilepsy syndrome – an epileptic syndrome that presents with multifocal refractory status epilepticus in previously normal children following a nonspecific febrile illness and evolves into a chronic, refractory, focal epilepsy with associated cognitive and behavioral difficulties. The article provides an overview of the literature on the etiology, diagnosis, clinical manifestations and treatment of this disease. We describe our own experience of observing the 4 patients with FIRES with the onset at the age from 4 to 14 years, with status epilepticus of duration from 3 to 27 days. All patients required intensive care treatment using burst-suppression coma and ventilatory support. Analysis of the cerebrospinal fluid, magnetic resonance imaging were no significant during the acute period in all patients. In one case, herpes simplex virus 6 type was detected by polymerase chain reaction in the serum and leucocytes. All patients were treated with antiepileptical, antiviral and antimicrobial drugs, steroids and IVIG. After status epilepticus drug-resistant epilepsy developed in all children. Two patients had mild cognitive impairment, the other 2 – severe. Light motor disturbances occurred in 2 children, 1 child had severe spastic tetraparesis. Interictal electroencephalography in chronic phase in 3 of 4 patients identified diffuse slowing of cortical rhythm, in 2 cases – epileptiform activity in the form of a spike-and-wave, sharp–slow wave in the fronto-temporal areas, in 1 case – the continuation irregular slow in the frontotemporal region. Follow-up magnetic resonance imaging was performed in 3 cases: 2 were normal and 1 had mild diffuse cortical atrophy.FIRES resulted in the development of drug-resistant epilepsy and cognitive impairment in all cases.

  4. DE ANQUIN SYNDROME-RARE CAUSE OF LOW BACK PAIN: A CASE REPORT WITH REVIEW OF LITERATURE

    Directory of Open Access Journals (Sweden)

    Spasov Marko

    2016-07-01

    Full Text Available Introduction: Low back pain is common medical disorder that can be caused by different etiologies, some of them being very rare. During the past decades, much of the etiology and pato-mechanics of low back pain has been clarified. However, defining precise cause of low back pain in a small subset of patients is still challenging. Case presentation: We are presenting a case of long lasting low back pain caused by impingement of the enlarged spinous process of the fifth lumbar spine into the spina bifida of the first sacral segment, so called De Anquin syndrome. We delineated the precise morphology of the anomaly using CT scans, and since the patient was symptomatic, the resection of the enlarged spinous process was undertaken. During the follow up period, the patient remained completely symptom free. Discussion and Literature review: We undertook literature review and small number of studies describing De Anquin syndrome were found. The most remarkable finding of the case presented is the immediate and complete release of pain. Conclusion: We do recommend seeking for the exact etiology in the patients with long lasting low back pain.

  5. 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.

  6. Long-term Consequences of the Posterior Reversible Encephalopathy Syndrome in Eclampsia and Preeclampsia : A Review of the Obstetric and Nonobstetric Literature

    NARCIS (Netherlands)

    Postma, Ineke R.; Slager, Sjoerdtje; Kremer, Hubertus P. H.; de Groot, Jan Cees; Zeeman, Gerda G.

    This review summarizes the long-term consequences of the posterior reversible encephalopathy syndrome (PRES) that have been described in the obstetric literature (eclampsia and preeclampsia) and compares these with data from the nonobstetric literature. Preeclampsia is characterized by new-onset

  7. [Metabolic Syndrome and Bipolar Affective Disorder: A Review of the Literature].

    Science.gov (United States)

    Jaramillo, Carlos López; Mejía, Adelaida Castaño; Velásquez, Alicia Henao; Restrepo Palacio, Tomás Felipe; Zuluaga, Julieta Osorio

    2013-09-01

    Bipolar disorder (BD) is a chronic psychiatric disorder that is found within the first ten causes of disability and premature mortality. The metabolic syndrome (MS) is a group of risk factors (RF) that predispose to cardiovascular disease (CV), diabetes and early mortality. Both diseases generate high costs to the health system. Major studies have shown that MS has a higher prevalence in patients with mental disorders compared to the general population. The incidence of MS in BD is multifactorial, and due to iatrogenic, genetic, economic, psychological, and behavioral causes related to the health system. The most common RF found is these patients was an increased abdominal circumference, and it was found that the risk of suffering this disease was greater in women and Hispanic patients. As regards the increase in RF to develop a CV in patients with BD, there have been several explanations based on the risky behavior of patients with mental illness, included tobacco abuse, physical inactivity and high calorie diets. An additional explanation described in literature is the view of BD as a multisystemic inflammatory illness, supported by the explanation that inflammation is a crucial element in atherosclerosis, endothelial dysfunction, platelet rupture, and thrombosis. The pathophysiology of MS and BD include factors such as adrenal, thyroid and sympathetic nervous system dysfunction, as well as poor lifestyle and medication common in these patients. This article attempts to give the reader an overall view of the information published in literature to date, as regards the association between BD and MS. Copyright © 2013 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  8. Acute myocardial infarction in young adults with Antiphospholipid syndrome: report of two cases and literature review

    OpenAIRE

    Abid, Leila; Frikha, Faten; Bahloul, Zouhir; Kammoun, Samir

    2011-01-01

    Abstract Acute myocardial infarction (AMI) is rarely associated with antiphospholipid syndrome. The treatment of these patients is a clinical challenge. We report the observations of 2 young adults (1 woman and 1 man), admitted in our acute care unit for acute myocardial infarction (AMI). A coagulopathy work-up concludes the existence of antiphospholipid syndrome (APS) in the 2 cases. APS syndrome was considered primary in 2 cases. All patients presented an intense inflammatory syndrome (high...

  9. Immunoglobulin E in irritable bowel syndrome: another target for treatment? A case report and literature review.

    Science.gov (United States)

    Pearson, James S; Niven, Robert M; Meng, Jie; Atarodi, Sima; Whorwell, Peter J

    2015-09-01

    Irritable bowel syndrome (IBS) is notoriously difficult to treat and this situation is unlikely to change until the pathophysiology is better understood. There is no doubt that IBS is a multifactorial condition but it is likely that the relative contribution of the various factors involved varies from patient to patient. Consequently, in some individuals one mechanism may have such a strong effect that its elimination may lead to a substantial improvement in symptoms. This paper describes a patient with severe asthma and IBS where the administration of an anti-Immunoglobulin E (IgE) monoclonal antibody not only improved her asthma but also resulted in an almost complete resolution of her IBS symptoms. This observation suggests that some form of allergic process, which may be mediated by IgE, might be driving IBS in some patients and there is evidence from the literature that atopy is more common in this condition. Therefore, in patients with IBS and atopy where the response to standard treatment is poor, it may be worth considering targeting the allergic diathesis. Possible approaches include skin testing with food antigens followed by an appropriate exclusion diet or pharmacological mast cell stabilization.

  10. [Yellow nail syndrome. Apropos of 2 cases. Review of the literature].

    Science.gov (United States)

    Kianzowa, M; Saraceni, O; Wilhelm, J M; Kieffer, P

    1994-01-01

    The yellow nail syndrome is a clinical syndrome without specific biological parameters. It is characterized by the following threesome of symptoms: nail abnormalities, primary lymphedema, and pleuropulmonary manifestations. In most cases lymphography shows abnormalities of the lymphatic vessels and spirometry shows a restrictive defect and rarely obstructive disorders. Pathogenesis of this syndrome is still unknown. It is, however, remarkable that the yellow nail syndrome may occur in association with other diseases, the most frequent of which are cancer affections and immune disorders. We report two cases of the yellow nail syndrome which were associated with cancer (neoplasm of the larynx and breast).

  11. Muir-Torre syndrome: a case report and review of the literature.

    Science.gov (United States)

    Okan, Gökhan; Vural, Pervin; Ince, Ümit; Yazar, Aziz; Uras, Cihan; Saruç, Murat

    2012-08-01

    Muir-Torre syndrome is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous gland neoplasm associated with visceral malignancies. Most patients present with sebaceous adenomas, but cystic sebaceous neoplasms have been reported as specific markers of the syndrome. Gastrointestinal and genitourinary cancers are the most common internal malignancies. Colorectal cancer is the commonest visceral neoplasm in Muir-Torre syndrome patients. In this case report, we describe a rare case of Muir-Torre syndrome associated with colon cancer, and we demonstrate the important role of the dermatopathologist in alerting the clinician to the possibility of Muir-Torre syndrome when the diagnosis of sebaceous neoplasm is made.

  12. Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature.

    Science.gov (United States)

    Peker, Kevser; Ergil, Julide; Öztürk, İbrahim

    2015-10-01

    Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%-3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. The features of the syndrome that may bear importance for anaesthetic management are laryngomalacia, multiple muscle contractures, limited neck movements, cyanotic cardiopathy and electrolyte imbalance. Patients with Waardenburg syndrome stand for difficult airway. We aimed to report anaesthetic management of a child with Waardenburg syndrome who underwent surgery for cochlear implantation.

  13. Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature.

    Science.gov (United States)

    Patel, Viraat; Sun, Grace; Dickman, Meghan; Khuu, Phuong; Teng, Joyce M C

    2015-01-01

    Keratitis-ichthyosis-deafness (KID) syndrome is a rare hereditary cornification disorder resulting from mutations in connexin 26, a protein important for intercellular communication. In addition to the characteristic clinical triad of congenital bilateral sensorineural hearing loss, keratitis, and erythrokeratoderma, affected individuals also suffer from chronic bacterial and fungal infections and have an increased risk of benign and malignant cutaneous tumors. Treatments with antibiotics, antifungals, and systemic retinoids have been reported with variable response. Ocular and skeletal toxicity from prolonged exposure to systemic retinoids is a major concern especially in children. We report a case of a 7-year-old boy with KID syndrome complicated by frequent infections who responded well to acitretin 0.5-1.0 mg/kg/day. The patient had significant improvement of the hyperkeratosis on the scalp, trunk, and extremities within 4 weeks after initiating treatment. The patient has been on treatment for over a year without notable ocular, skeletal, or laboratory side effects. A review of the literature focusing on therapeutic options for KID syndrome and concerns about safety and tolerability is presented. © 2014 Wiley Periodicals, Inc.

  14. Treatment and Prognosis of Facial Palsy on Ramsay Hunt Syndrome: Results Based on a Review of the Literature.

    Science.gov (United States)

    Monsanto, Rafael da Costa; Bittencourt, Aline Gomes; Bobato Neto, Natal José; Beilke, Silvia Carolina Almeida; Lorenzetti, Fabio Tadeu Moura; Salomone, Raquel

    2016-10-01

    Introduction  Ramsay Hunt syndrome is the second most common cause of facial palsy. Early and correct treatment should be performed to avoid complications, such as permanent facial nerve dysfunction. Objective  The objective of this study is to review the prognosis of the facial palsy on Ramsay Hunt syndrome, considering the different treatments proposed in the literature. Data Synthesis  We read the abstract of 78 studies; we selected 31 studies and read them in full. We selected 19 studies for appraisal. Among the 882 selected patients, 621 (70.4%) achieved a House-Brackmann score of I or II; 68% of the patients treated only with steroids achieved HB I or II, versus 70.5% when treated with steroids plus antiviral agents. Among patients with complete facial palsy (grades V or VI), 51.4% recovered to grades I or II. The rate of complete recovery varied considering the steroid associated with acyclovir: 81.3% for methylprednisolone, 69.2% for prednisone; 61.4% for prednisolone; and 76.3% for hydrocortisone. Conclusions  Patients with Ramsay-hunt syndrome, when early diagnosed and treated, achieve high rates of complete recovery. The association of steroids and acyclovir is better than steroids used in monotherapy.

  15. [Ogilvie syndrome with cecal perforation. A rare complication after isolated thoracic trauma. Case report and current literature review].

    Science.gov (United States)

    Meier, C; Di Lazzaro, M; Decurtins, M

    2000-01-01

    In reviewing 750 cases of acute colonic pseudo-obstruction from the literature, the most commonly associated disorders are listed and the therapeutical management is critically discussed. The authors describe an additional case of a 77-year-old male with ogilvie's syndrome following isolated thoracic trauma. Ogilvie's syndrome has been used synonymously with acute colonic pseudo-obstruction (ACPO) of the colon, first defined by Sir Heneage Ogilvie in 1948. If inappropriately managed, the massive colonic dilatation may lead to caecal ischaemia and perforation with a high mortality rate. Aetiology and pathogenesis of the syndrome are still unknown, but mostly ACPO is associated with a wide variety of medical conditions. Often it appears to be a complication after abdominal or pelvic surgery or trauma. In few cases the pseudo-obstruction is isolated and therefore truly idiopathic. Conservative treatment is indicated if the caecum is less than 12 cm in diameter. If there is a progressive increase in diameter or no improvement is seen, the colon should be decompressed without further delay. The indications for surgery are failure of conservative treatment and colonoscopy, signs for ceacal ischaemia or perforation. The choice of procedure, coecostomy or resection, is dictated by the state of the caecum. Due to a high mortality rate (up to 50%) if the caecum is perforated, an aggressive therapeutical management should be applied.

  16. Phenytoin induced Steven-Johnson syndrome and bronchiolitis obliterans - case report and review of literature.

    Science.gov (United States)

    Pannu, Bibek S; Egan, Ashley M; Iyer, Vivek N

    2016-01-01

    Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are both rare but serious idiosyncratic drug reactions characterized by diffuse muco-epidermoid injury and high mortality. Keratinocytes in both skin and mucous membranes (including eyes, mouth and genitalia) are injured resulting in a diffuse maculopapular rash, blistering lesions and epithelial detachment with minimal force (Nikolsky's sign). SJS is typically diagnosed when less than 10% of the skin surface is involved and the term TEN is used in cases with more than 30% involvement. Respiratory involvement in SJS-TEN is common with 30-50% of cases demonstrating respiratory epithelial sloughing with severe short and long term complications. Patients who survive SJS-TEN are often left with impaired respiratory function and bronchiolitis obliterans. Cases of bronchiolitis obliterans with SJS/TEN have been very rarely reported. We report a case of phenytoin induced SJS/TEN followed by severe bronchiolitis obliterans in an adult patient. The presentation, pathophysiology and management of SJS/TEN related bronchiolitis obliterans is also reviewed.

  17. Phenytoin induced Steven–Johnson syndrome and bronchiolitis obliterans – case report and review of literature

    Directory of Open Access Journals (Sweden)

    Bibek S. Pannu

    2016-01-01

    Full Text Available Stevens–Johnson syndrome (SJS and toxic epidermal necrolysis (TEN are both rare but serious idiosyncratic drug reactions characterized by diffuse muco-epidermoid injury and high mortality. Keratinocytes in both skin and mucous membranes (including eyes, mouth and genitalia are injured resulting in a diffuse maculopapular rash, blistering lesions and epithelial detachment with minimal force (Nikolsky's sign. SJS is typically diagnosed when less than 10% of the skin surface is involved and the term TEN is used in cases with more than 30% involvement. Respiratory involvement in SJS-TEN is common with 30–50% of cases demonstrating respiratory epithelial sloughing with severe short and long term complications. Patients who survive SJS-TEN are often left with impaired respiratory function and bronchiolitis obliterans. Cases of bronchiolitis obliterans with SJS/TEN have been very rarely reported. We report a case of phenytoin induced SJS/TEN followed by severe bronchiolitis obliterans in an adult patient. The presentation, pathophysiology and management of SJS/TEN related bronchiolitis obliterans is also reviewed.

  18. Ellis Van Creveld Syndrome: Report of a Case and Brief Literature Review

    OpenAIRE

    Gholamhossein Amirhakimi; Hedyeh Saneifard

    2008-01-01

    Objective: Ellis van Creveld syndrome (EvCS) is a rare autosomal recessive (AR) disorder first described in 1940. The syndrome manifests with several skeletal, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. EvCs should be differentiated from other chondrodystrophies such as achondroplasia and Morquios syndrome.Case Presentation: A nine-year old girl was referred with short stature. In physical examination her height was 105 cm. She had normal intelligence, s...

  19. A Case of Microangiopathic Antiphospholipid-Associated Syndromes during Pregnancy: Review of the Literature

    Directory of Open Access Journals (Sweden)

    Nobuhiro Suzumori

    2012-01-01

    Full Text Available Microangiopathic antiphospholipid-associated syndromes (MAPSs are reported as encompassing several conditions mainly affecting the microvasculature of selected organs: the liver in HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet; kidney, brain, and skin in TTP (thrombotic thrombocytopenic purpura. It is predominant in patients with catastrophic antiphospholipid syndrome (APS. A recent report suggests that APS is not only a thrombotic disease but also associated with microangiopathic features, and it can explain the greater prevalence of HELLP syndrome in these patients. We here report a case of MAPS during pregnancy associated with systemic lupus erythematosus (SLE in early second trimester.

  20. Psychiatric and neuropsychological issues in Marfan syndrome: A critical review of the literature.

    Science.gov (United States)

    Gritti, Antonella; Pisano, Simone; Catone, Gennaro; Iuliano, Raffaella; Salvati, Tiziana; Gritti, Paolo

    2015-01-01

    The cooccurrence of Marfan syndrome and psychiatric disorders has been reported for many years. Furthermore, neuropsychological deficits have been shown to be associated with Marfan syndrome. The aim of the present article is to summarize findings from the sparse studies and case reports available. The results hold clinical and therapeutic implications and suggest that psychological and neuropsychological domains in Marfan syndrome patients should be carefully assessed. In particular, some patients may require specific rehabilitation programs. On this basis, a multidisciplinary approach to Marfan syndrome treatment seems mandatory. © The Author(s) 2015.

  1. Addison's disease presenting as acute chest syndrome: case report and review of literature.

    Science.gov (United States)

    Akpa, M R; Odia, O J

    2006-01-01

    Addison's disease is due to primary adrenal failure. It is an uncommon condition with equal prevalence in both males and females. The onset of symptoms is gradual and manifestation is non specific, hence diagnosis is easily missed without a high index of suspicion. The medical records of a patient who presented with acute chest pain to the cardiac unit of the University of Port Harcourt Teaching Hospital were reviewed. A review of the literature using manual library and Medline search on Addison's disease was also done. A 48 years old male presented in our medical outpatient department with a three day history of sudden onset of severe precordial chest pain that started while playing football which was associated with nausea, vomiting and difficulty in breathing. After initial clinical evaluation a diagnosis of acute myocardial infarction and cardiac failure with a suspicion of background Addison's disease was made. Serial electrocardiography done over a two week period did not show evidence of myocardial infarction, but the patient had elevated serum ACTH and very low serum cortisol levels. An abdominal CT scan done two weeks after admission showed absence of the Adrenal glands bilaterally, confirming Addison's disease. He received treatment for cardiac failure, analgesics, prednisolone and a mineralocorticoid to which he responded satisfactorily and has remained healthy. He also received a six months course of antituberculous treatment empirically. Addison's disease is an uncommon endocrine disorder which can present insidiously in a non specific manner. Diagnosis requires a high index of suspicion.

  2. Distress in significant others of patients with chronic fatigue syndrome: A systematic review of the literature.

    Science.gov (United States)

    Harris, Kamelia; Band, Rebecca J; Cooper, Hazel; Macintyre, Vanessa G; Mejia, Anilena; Wearden, Alison J

    2016-11-01

    The objective of this study was to systematically review existing empirical research assessing levels and correlates of distress in significant others of patients with chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME). Systematic searches in CINAHL, Web of Science and PsycINFO were conducted in August 2014. The search was repeated in January 2015 to check for newly published articles. Studies published in English with quantitative, qualitative, or mixed designs exploring distress, poor subjective health, poor mental health, reduced quality of life and well-being, and symptoms of depression and anxiety in significant others (>18 years) of children and adults with CFS/ME were included. Quality appraisal of included studies was carried out. Quantitative and qualitative studies were summarized separately. Six articles met eligibility criteria. Two quantitative studies with significant others of adult patients, and one quantitative and two mixed-methods studies with significant others of child patients showed moderate to high levels of distress. One qualitative study (adult patients) found minimal evidence of distress and that acceptance of CFS/ME was related to better adjustment. In the quantitative and mixed-methods studies, significant others who attributed some level of responsibility for symptoms to the patient, or who were female, or whose partners had poorer mental health, had higher levels of distress. The small number of studies to date, the contrary evidence from a qualitative study, and the limited data available on levels of distress in significant others of patients with CFS/ME mean that our conclusion that distress levels are elevated is provisional. We recommend that future qualitative studies focus on this particular topic. Further longitudinal studies exploring correlates of distress within the context of a predictive theoretical model would be helpful. Statement of contribution What is already known on this subject? Chronic fatigue syndrome

  3. Reiters syndrome – a case report and review of literature | Alebiosu ...

    African Journals Online (AJOL)

    The occurrence of Reiter's Syndrome is rare and not commonly reported in Nigeria. This paper reports a case of a 35yr old male Nigerian with Reiter's Syndrome, occurring 1-2 weeks after a bout of a dysenteric illness. The patient presented with fever, conjunctivitis, dysentery, urethritis and arthralgia. The joint pains ...

  4. 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.

  5. Laparoscopic management of superior mesentric artery syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Makam Ramesh

    2008-01-01

    Full Text Available Superior mesentric artery syndrome is a rare cause of high small bowel obstruction, caused by compression of the transverse part of the duodenum in between the superior mesentric artery and aorta. Patients present with chronic abdominal pain, vomiting and weight loss. We report a case of superior mesenteric artery syndrome, managed laparoscopically with laparoscopic duodenojejunostomy.

  6. Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org).

    Science.gov (United States)

    Postema, Pieter G; Wolpert, Christian; Amin, Ahmad S; Probst, Vincent; Borggrefe, Martin; Roden, Dan M; Priori, Silvia G; Tan, Hanno L; Hiraoka, Masayasu; Brugada, Josep; Wilde, Arthur A M

    2009-09-01

    Worldwide, the Brugada syndrome has been recognized as an important cause of sudden cardiac death in individuals at a relatively young age. Importantly, many drugs have been reported to induce the characteristic Brugada syndrome-linked ECG abnormalities and/or (fatal) ventricular tachyarrhythmias. The purpose of this study was to review the literature on the use of drugs in Brugada syndrome patients, to make recommendations based on the literature and on expert opinion regarding drug safety, and to ensure worldwide online and up-to-date availability of this information to all physicians who treat Brugada syndrome patients. We performed an extensive review of the literature, formed an international expert panel to produce a consensus recommendation to each drug, and initiated a website (www.brugadadrugs.org). The literature search yielded 506 reports for consideration. Drugs were categorized into one of four categories: (1) drugs to be avoided (n = 18); (2) drugs preferably avoided (n = 23); (3) antiarrhythmic drugs (n = 4); and (4) diagnostic drugs (n = 4). Level of evidence for most associations was C (only consensus opinion of experts, case studies, or standard-of-care) as there are no randomized studies and few nonrandomized studies in Brugada syndrome patients. Many drugs have been associated with adverse events in Brugada syndrome patients. We have initiated a website (www.brugadadrugs.org) to ensure worldwide availability of information on safe drug use in Brugada syndrome patients.

  7. Chondroectodermal dysplasia (Ellis van Creveld syndrome: A report of three cases with review of literature

    Directory of Open Access Journals (Sweden)

    Kurian K

    2007-01-01

    Full Text Available Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia. Majority of cases were characteristically seen in one particular inbred population from the Amish community of Lancaster County, Pennsylvania, U.S.A. The syndrome manifests with several skeletal anomalies, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. Ellis van Creveld syndrome may be differentiated from other chondrodystrophies like achondroplasia, chondroplasia punctata, asphyxiating thorasic dystrophy and Morquio′s syndrome. The presence of oral mucosal and dental alterations like notching of the lower alveolar process, fusion of the upper lip with gingival mucosal margin, occasional presence of neonatal teeth, oligodontia and conical shape of anterior teeth will confirm the diagnosis of Ellis van Creveld syndrome and hence its importance to dentists.

  8. Sudden Cardiac Arrest due to Brugada Syndrome: a Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    R Soleimanirad

    2013-04-01

    Full Text Available Brugada Syndrome is a rare cause of sudden cardiac arrest and has a unique ECG pattern. In fact, with ST-segment elevation down sloping in the right precordial leads (v1-v3, RBBB pattern in lateral leads and J-point elevation is revealed. We must notice and avoid trigger factors of this syndrome during general anesthesia. Patient is a 39 old man who attended to emergency department with sudden cardiac arrest and resuscitate. He was transferred to ICU for management of hypoxic ischemic encephalopathy. Complementary studies concluded the diagnosis of Brugada syndrome. We must consider Brugada syndrome within patients with family history of sudden cardiac arrest. Moreover, we must avoid trigger factors of this syndrome such as fever, bradicardia and electrolyte abnormality (specialy Na, Ca abnormalities during general anesthesia and if they appear, we should treat them.

  9. Intravenous immunoglobulins and antiphospholipid syndrome: How, when and why? A review of the literature.

    Science.gov (United States)

    Tenti, Sara; Cheleschi, Sara; Guidelli, Giacomo Maria; Galeazzi, Mauro; Fioravanti, Antonella

    2016-03-01

    The antiphospholipid syndrome (APS) is defined by the occurrence of venous and arterial thromboses and recurrent fetal losses, frequently accompanied by a moderate thrombocytopenia, in the presence of antiphospholipid antibodies (aPL), namely lupus anticoagulant (LA), anticardiolipin antibodies (aCL), or anti-β2 glycoprotein-I (β2GPI) antibodies. The current mainstay of treatment for thrombotic APS is heparin followed by long-term anticoagulation, while in obstetric APS, the accepted first-line treatment consists in low-dose aspirin (LDA) plus prophylactic unfractionated or low-molecular-weight heparin (LMWH). Recently, new emerging treatment modalities, including intravenous immunoglobulins (IVIG), have been implemented to manage APS refractory to conventional therapy. The objective of this review is to summarize the currently available information on the IVIG therapy in APS, focusing on the use of IVIG in the obstetric form, CAPS and on primary or secondary thromboprophylaxis. We analyzed 35 studies, reporting the effects of IVIG in APS patients, and we discussed their results. IVIG in obstetric APS seem to be very useful in selected situations (patients not responsive to the conventional treatment, concomitant autoimmune manifestations or infections or patients in whom anticoagulation is contraindicated). IVIG treatment represents an important component of the combination therapy of CAPS and they could be useful, in addition to the standard therapy, to prevent recurrent thrombosis in APS patients refractory to conventional anticoagulant treatment. Anyway, in some cases we also found controversial results that claim the need of further well-designed studies to definitely state the efficacy and tolerability of IVIG in CAPS, obstetric and non-APS. Copyright © 2015 Elsevier B.V. All rights reserved.

  10. Atypical Hemolytic Uremic Syndrome post Kidney Transplantation: Two Case Reports and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Sami eAlasfar

    2014-12-01

    Full Text Available Atypical hemolytic uremic syndrome (aHUS is a rare disorder characterized by over-activation and dysregulation of the alternative complement pathway. Its estimated prevalence is 1-2 per million. The disease is characterized by thrombotic microangiopathy, which causes anemia, thrombocytopenia, and acute renal failure. aHUS has more severe course compared to typical (Infection-induced HUS and is frequently characterized by relapses that leads to end stage renal disease (ESRD. For a long time, kidney transplantation for these patients was contraindicated because of high rate of recurrence and subsequent renal graft loss. The post-kidney transplantation recurrence rate largely depends on the pathogenetic mechanisms involved. However, over the past several years, advancements in the understanding and therapeutics of aHUS have allowed successful kidney transplantation in these patients. Eculizumab, which is a complement C5 antibody that inhibits complement factor 5a (C5a and subsequent formation of the membrane attack complex, has been used in prevention and treatment of post-transplant aHUS recurrence. In this paper, we present two new cases of aHUS patients who underwent successful kidney transplantation in our center with the use of prophylactic and maintenance eculizumab therapy that have not been published before. The purpose of reporting these two cases is to emphasize the importance of using eculizumab as a prophylactic therapy to prevent aHUS recurrence post transplant in high-risk patients. We will also review the current understanding of the genetics of aHUS, the pathogenesis of its recurrence after kidney transplantation, and strategies for prevention and treatment of post-transplant aHUS recurrence.

  11. Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives.

    Science.gov (United States)

    Salzano, Andrea; Arcopinto, Michele; Marra, Alberto M; Bobbio, Emanuele; Esposito, Daniela; Accardo, Giacomo; Giallauria, Francesco; Bossone, Eduardo; Vigorito, Carlo; Lenzi, Andrea; Pasquali, Daniela; Isidori, Andrea M; Cittadini, Antonio

    2016-07-01

    Klinefelter syndrome (KS) is the most frequently occurring sex chromosomal aberration in males, with an incidence of about 1 in 500-700 newborns. Data acquired from large registry-based studies revealed an increase in mortality rates among KS patients when compared with mortality rates among the general population. Among all causes of death, metabolic, cardiovascular, and hemostatic complication seem to play a pivotal role. KS is associated, as are other chromosomal pathologies and genetic diseases, with cardiac congenital anomalies that contribute to the increase in mortality. The aim of the current study was to systematically review the relationships between KS and the cardiovascular system and hemostatic balance. In summary, patients with KS display an increased cardiovascular risk profile, characterized by increased prevalence of metabolic abnormalities including Diabetes mellitus (DM), dyslipidemia, and alterations in biomarkers of cardiovascular disease. KS does not, however, appear to be associated with arterial hypertension. Moreover, KS patients are characterized by subclinical abnormalities in left ventricular (LV) systolic and diastolic function and endothelial function, which, when associated with chronotropic incompetence may led to reduced cardiopulmonary performance. KS patients appear to be at a higher risk for cardiovascular disease, attributing to an increased risk of thromboembolic events with a high prevalence of recurrent venous ulcers, venous insufficiency, recurrent venous and arterial thromboembolism with higher risk of deep venous thrombosis or pulmonary embolism. It appears that cardiovascular involvement in KS is mainly due to chromosomal abnormalities rather than solely on low serum testosterone levels. On the basis of evidence acquisition and authors' own experience, a flowchart addressing the management of cardiovascular function and prognosis of KS patients has been developed for clinical use. © 2016 European Society of Endocrinology.

  12. Case report and literature review on Good's syndrome, a form of acquired immunodeficiency associated with thymomas.

    Science.gov (United States)

    Joven, Mark Henry; Palalay, Melvin P; Sonido, Charlie Y

    2013-02-01

    Thymoma is an uncommon and slow-growing neoplasm that usually presents with mass-associated respiratory symptoms, superior vena cava syndrome or parathymic syndromes. We present a patient with thymoma and hypogammaglobulinemia who had recurrent sinopulmonary infections and diarrhea, recognized to be Good's syndrome. A 75-year old male with thymoma was admitted in our institution due to severe dehydration secondary to a 2-week history of non-bloody watery diarrhea refractory to anti-motility medications. His condition started 3 years ago when he had repeated outpatient visits and hospital admissions either from diarrhea or respiratory tract infections. Workup was essentially unremarkable except for low serum IgM and IgG, lymphocytopenia, and a low absolute CD4 T cell count of 94. A diagnosis of Good's syndrome was made. Patients with Good's syndrome usually have low to absent B cells in the peripheral blood, hypogammaglobulinemia, and cell-mediated immunity defects. Immunologic investigations, T cell subsets, B cell, and quantitative immunoglobulins should be considered a part of diagnostic search in patients with thymoma with recurrent infections or diarrhea. Thymectomy has favorable effects on other parathymic syndromes but is ineffective in improving immunologic deficiencies in this syndrome. Immunoglobulin replacements have been reported to decrease infections, reduce hospitalizations, and decrease antibiotic use in these patients. Clinical outcomes depend on the severity of infections, associated hematologic and autoimmune diseases rather than the thymoma itself.

  13. Stroke-like migraine attacks after radiation therapy syndrome: Case report and review of the literature.

    Science.gov (United States)

    Singh, Achint K; Tantiwongkosi, Bundhit; Moise, Anna-Marieta; Altmeyer, Wilson B

    2017-12-01

    A 26-year-old female presented with vision loss accompanied by migraine-like headaches. A contrast-enhanced magnetic resonance imaging of the brain was performed which revealed findings suggestive of stroke-like migraine attacks after radiation therapy (SMART) syndrome. SMART syndrome is a delayed complication of brain radiation characterized by neurologic symptoms including migraine-like headaches, seizures, and hemispheric impairment. The purpose of this article is to make the readers aware of this rare complication of brain irradiation. Appropriate diagnosis of SMART syndrome is essential to avoid invasive tests.

  14. Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature.

    Science.gov (United States)

    Bouatay, Amina; Hizem, Sondes; Tej, Amel; Moatamri, Wided; Boughamoura, Lamia; Kortas, Mondher

    2014-09-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, recurrent pyogenic infections (skin, mucosa and respiratory system), and neurologic deficit. The hallmark of this syndrome is the presence of abnormal intracytoplasmic giant granules in all granule containing cells including leukocytes in blood and bone marrow. A majority (85 %) of patients with CHS develop an accelerated phase consisting of a lymphoproliferative syndrome with hemophagocytosis and infiltration of most tissues. This phase is characterized by fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia and neurological abnormalities. In this paper, we report a case of CHS presented as accelerated phase in a 9-month-old girl child.

  15. Multifocal spinal hemangioblastoma in von Hippel-Lindau syndrome: A case report and literature review

    International Nuclear Information System (INIS)

    Kim, Ok Hwa

    2015-01-01

    Hemangioblastoma is a benign vascular neoplasm of the central nervous system that occurs frequently in the cerebellum and other areas of the central nervous system including spinal cord and brainstem. Spinal hemangioblastoma can present as a sporadic isolated lesion or as a component of von Hippel-Lindau syndrome. The author presents a case of 32-year-old man with von Hippel-Lindau syndrome and spinal hemangioblastomas represented by multiple small spinal lesions, with an emphasis on the magnetic resonance imaging findings and clinical characteristics of von Hippel-Lindau syndrome-associated spinal hemangioblastomas.

  16. A case report and brief literature review of Klippel-Trénaunay syndrome

    Directory of Open Access Journals (Sweden)

    Choudhary MG

    2012-05-01

    Full Text Available Madan Gopal Choudhary, Zia Ul Haq, Ram Narayan Sehra, Chandra Kumar ChaharDepartment of Paediatrics, Sardar Patel Medical College and P.B.M Hospital, Rajasthan, IndiaAbstract: Klippel-Trénaunay syndrome is a rare disorder characterized by the triad of vascular malformations, venous varicosities, and bone and soft-tissue hypertrophy. We present a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities in the limbs.Keywords: Klippel-Trénaunay syndrome, sporadic, venous varicosities, port-wine stain, angiokeratoma

  17. Multifocal spinal hemangioblastoma in von Hippel-Lindau syndrome: A case report and literature review

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok Hwa [Dept. of Radiology, Inje University College of Medicine, Haeundae Paik Hospital, Busan (Korea, Republic of)

    2015-03-15

    Hemangioblastoma is a benign vascular neoplasm of the central nervous system that occurs frequently in the cerebellum and other areas of the central nervous system including spinal cord and brainstem. Spinal hemangioblastoma can present as a sporadic isolated lesion or as a component of von Hippel-Lindau syndrome. The author presents a case of 32-year-old man with von Hippel-Lindau syndrome and spinal hemangioblastomas represented by multiple small spinal lesions, with an emphasis on the magnetic resonance imaging findings and clinical characteristics of von Hippel-Lindau syndrome-associated spinal hemangioblastomas.

  18. Is sleep apnea-hypopnea syndrome a new cardiovascular risk factor? A literature review that does not confirm it

    Directory of Open Access Journals (Sweden)

    Mª Dolores Gómez Olivares

    2017-10-01

    Full Text Available Introduction: The factors that favor and can trigger cardiovascular diseases are of great interest given their high morbidity and mortality in the population. In this paper, a literature review is carried out to verify whether sleep apnea-hypopnea syndrome (SAHS acts as a risk factor for cardiovascular diseases in adults. It is important to show if there is a correlation because sleep apneas are very prevalent in the population, increase with age and their diagnosis and treatment are simple. Objectives: To verify if SAHS is a cardiovascular risk factor in adults. Results: The association of SAHS with hypertension, cerebrovascular, cardiovascular, arrhythmia and sudden death in adults has been studied. It has been shown that apneas act as a risk factor independently for these pathologies and that CPAP treatment improves the clinical and decreases the risk of mortality from cardiovascular diseases. Conclusions: Although an abnormal respiratory pattern predisposes to cardiovascular disease, SAHS is not confirmed as a cardiovascular risk factor

  19. Numb Chin Syndrome Leading to a Diagnosis of Salivary Ductal Adenocarcinoma: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Lei Wu

    2017-07-01

    Full Text Available Numb chin syndrome (NCS refers to a rare sensory neuropathy characterized by numbness of the chin within the distribution of the mental or inferior alveolar nerve. Although NCS is usually caused by a benign process, it should not be underestimated and a thorough diagnostic evaluation for a new or known progressive malignancy should always be performed. Here, we report a case of salivary ductal adenocarcinoma that mimicked a pulpitis and periodontitis in its early presentation accompanied by numbness of chin. The course and diagnosis of this case are discussed, and a brief review of the literature is presented. It is hoped for clinicians to keep the malignant possibility of NCS in mind and take a thorough examination.

  20. Combination of Escitalopram and Rasagiline Induced Serotonin Syndrome: A Case Report and Review Literature.

    Science.gov (United States)

    Suphanklang, Juthathip; Santimaleeworagun, Wichai; Supasyndh, Ouppatham

    2015-12-01

    Serotonin syndrome is a rare but potentially fatal complication of drugs that have effects on central nervous system serotonin. It is characterized by sudden onset of altered mental status, increased neuromuscular activity, and autonomic instability. The authors reported a case of serotonin syndrome associated with combined therapy of monoamine oxidase-B inhibitors and selective serotonin reuptake inhibitor A 77-year-old Thai man had been taking escitalopram for depression for three years. He presented with high-grade fever and confusion two days after taking rasagiline for Parkinson's disease. He also had agitation, hallucination, and behavioral change. Escitalopram and rasagiline were discontinued but his renal function worsened, turning to acute kidney injury. He was diagnosed as serotonin syndrome. This is the first case report of serotonin syndrome due to combination of escitalopram and rasagiline used.

  1. Use of Buprenorphine in Children With Chronic Pseudoobstruction Syndrome Case Series and Review of Literature

    NARCIS (Netherlands)

    Prapaitrakool, Sunisa; Hollmann, Markus W.; Wartenberg, Hans Christian; Preckel, Benedikt; Brugger, Stefan

    2012-01-01

    Objectives: Abdominal pain is the most challenging symptom in chronic intestinal pseudoobstruction (CIPO) syndrome, because of its severity and the limited availability of suitable opioid formulations, especially in pediatric patients with digestive problems. Most of the children with CIPO cannot

  2. Atlantooccipital subluxation in a neonate with Down's syndrome. Case report and review of the literature.

    Science.gov (United States)

    Trumble, E R; Myseros, J S; Smoker, W R; Ward, J D; Mickell, J J

    1994-01-01

    Atlantooccipital subluxation (AOS) occurs in up to 63% of patients with Down's syndrome. However, presenting symptoms and the age at which preoperative screening becomes necessary have not been clearly delineated. Recently, a 16-day-old female with Down's syndrome and AOS presented to our institution. Following patent ductus arteriosus ligation, her neurological examination revealed trace movement, few spontaneous respirations, and left lower extremity clonus. Cervical spine radiographs revealed significant AOS. She was reduced and underwent a fusion from the occiput to C2. She gradually regained full strength and sensation. This case is the youngest example of AOS related to Down's syndrome described. It emphasizes the need for preoperative screening of all patients with Down's syndrome.

  3. [Ophthalmological manifestations of Cornelia de Lange syndrome: Case report and review of the literature].

    Science.gov (United States)

    Avgitidou, G; Cursiefen, C; Heindl, L M

    2015-05-01

    A 2-year-old boy suffering from Cornelia de Lange syndrome, presented with mucopurulent ocular discharge and epiphora since birth. Irrigation and probing of the nasolacrimal system revealed and successfully treated bilateral nasolacrimal duct obstructions. Cornelia de Lange syndrome is characterized not only by typical facial features, visceral and urogenital anomalies but also by ophthalmological manifestations in 99% of cases. The most common ophthalmological disorders are synophrys, blepharitis, epiphora, hypertrichosis of the eyebrows and eyelashes, myopia, ptosis and nasolacrimal duct obstruction.

  4. Leg ulcers associated with Klinefelter’s syndrome: a case report and review of the literature

    OpenAIRE

    Shanmugam, Victoria K; Tsagaris, Katina C; Attinger, Christopher E

    2011-01-01

    We present the case of a young man with type II diabetes, stage III chronic kidney disease, hypertension, obstructive sleep apnea and diabetes who presented to the Georgetown University Hospital Center for Wound Healing with refractory lower extremity ulcers. Autoimmune work-up was negative. However, chromosome analysis showed a genetic variant of Klinefelter’s syndrome (48 XXYY). Lower extremity ulceration is a recognised complication of Klinefelter’s syndrome. The pathogenesis of ulcers in ...

  5. Sjogren's syndrome combined with hypokalemic periodic paralysis (report of 2 cases with review of literature)

    OpenAIRE

    CHENG Xiao-juan; WANG Feng; ZHAO Yu-wu

    2012-01-01

    Objective To explore the early diagnosis and the therapy of Sjogren's syndrome combined with hypokalemic periodic paralysis. Methods Clinical data of 2 cases with Sjogren's syndrome and hypokalemic periodic paralysis were analyzed. Results The first symptom of both two cases was suddenly or paroxysmal progressive four limbs weakness. The levels of serum potassium and chloride ion were decreased significantly, combined with alkaline urine, anti SS-A (+), anti SS-B (+), and sometimes with hyper...

  6. A case report and brief literature review of Klippel-Trénaunay syndrome

    OpenAIRE

    Choudhary MG; Haq ZU; Sehra RN; Chahar CK

    2012-01-01

    Madan Gopal Choudhary, Zia Ul Haq, Ram Narayan Sehra, Chandra Kumar ChaharDepartment of Paediatrics, Sardar Patel Medical College and P.B.M Hospital, Rajasthan, IndiaAbstract: Klippel-Trénaunay syndrome is a rare disorder characterized by the triad of vascular malformations, venous varicosities, and bone and soft-tissue hypertrophy. We present a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities in the limbs...

  7. Isolated bilateral Tapia’s syndrome after liver transplantation: A case report and review of the literature

    Science.gov (United States)

    Bilbao, Itxarone; Dopazo, Cristina; Caralt, Mireia; Castells, Lluis; Pando, Elisabeth; Gantxegi, Amaia; Charco, Ramón

    2016-01-01

    AIM To describe one case of bilateral Tapia’s syndrome in a liver transplanted patient and to review the literature. METHODS We report a case of bilateral Tapia’s syndrome in a 50-year-old man with a history of human immunodeficiency virus and hepatitis C virus child. A liver cirrhosis and a bi-nodular hepatocellular carcinoma, who underwent liver transplantation after general anesthesia under orotracheal intubation. Uneventful extubation was performed in the intensive care unit during the following hours. On postoperative day (POD) 3, he required urgent re-laparotomy due to perihepatic hematoma complicated with respiratory gram negative bacilli infection. On POD 13, patient was extubated, but required immediate re-intubation due to severe respiratory failure. At the following day a third weaning failure occurred, requiring the performance of a percutaneous tracheostomy. Five days later, the patient was taken off mechanical ventilation and severe dysphagia, sialorrea and aphonia revealed. A computerized tomography and a magnetic resonance imaging of the head and neck excluded central nervous injury. A stroboscopy showed bilateral paralysis of vocal cords and tongue and a diagnosis of bilateral Tapia’s syndrome was performed. With conservative management, including a prompt establishment of a speech and swallowing rehabilitation program, the patient achieved full recovery within four months after liver transplantation. We carried out MEDLINE search for the term Tapia’s syndrome. The inclusion criteria had no restriction by language or year but must provide sufficient available data to exclude duplicity. We described the clinical evolution of the patients, focusing on author, year of publication, age, sex, preceding problem, history of endotracheal intubation, unilateral or bilateral presentation, diagnostic procedures, type of treatment, follow-up, and outcome. RESULTS Several authors mentioned the existence of around 70 cases, however only 54 fulfilled our

  8. Thoracic outlet syndrome caused by synostosis of the first and second thoracic ribs: 2 case reports and review of the literature.

    Science.gov (United States)

    Reidler, Jay S; Das De, Soumen; Schreiber, Joseph J; Schneider, Darren B; Wolfe, Scott W

    2014-12-01

    We present 2 cases of combined arterial and neurogenic thoracic outlet syndrome triggered by trauma in patients with congenital synostoses of the first and second ribs. These patients were successfully treated with supraclavicular resection of the first and second ribs and scalenectomy. We review these cases and the associated literature on thoracic outlet syndrome and rib synostosis. Copyright © 2014 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  9. Acute myocardial infarction in young adults with Antiphospholipid syndrome: report of two cases and literature review

    Directory of Open Access Journals (Sweden)

    Leila Abid

    2011-02-01

    Full Text Available Acute myocardial infarction (AMI is rarely associated with antiphospholipid syndrome. The treatment of these patients is a clinical challenge. We report the observations of 2 young adults (1 woman and 1 man, admitted in our acute care unit for acute myocardial infarction (AMI. A coagulopathy work-up concludes the existence of antiphospholipid syndrome (APS in the 2 cases. APS syndrome was considered primary in 2 cases. All patients presented an intense inflammatory syndrome (high level of CRP. Anticardiolipine was present in the 2 cases. However, anti B2 glycoprotein I antibodies were detected in only one case. Emergency percutaneous transluminal coronary angioplasty (PTCA with direct stenting had been performed successfully only in the first case, and the follow-up was uncomplicated. Thereafter, long-term oral anticoagulant appeared to be effective. The last patient was admitted because of peripheral acute ischemia of legs. Standard electrocardiogram showed signs of previous silent anteroseptal wall myocardial infarction confirmed by echocardiography. The latter revealed an apical thrombus and a very low left ventricular ejection fraction. Amputation of the right leg was necessary because of consultation occurred too late. However, he died four weeks later. Primary antiphospholipid syndrome should be considered as a cause of acute myocardial infarction in young adults, and PTCA with anticoagulant treatment is effective for initial treatment of this complication

  10. Surgical treatment of median arcuate ligament syndrome: Case report and review of literature

    Directory of Open Access Journals (Sweden)

    Kotarac Milutin

    2015-01-01

    Full Text Available Introduction. Median arcuate ligament (MAL syndrome, also called celiac trunk compression syndrome (CACS or Dunbar syndrome is a rare disorder caused by compression of the celiac artery by median arcuate ligament of the diaphragm, which leads to mesenteric ischemia and chronic abdominal angina. The typical clinical triad of symptoms includes postprandial epigastric pain, weight loss and vomiting. The gold standard for MAL syndrome diagnosis is selective angiography, while in symptomatic patients with angiographically verified stenosis the optimal therapy is surgical treatment. Case Outline. A 40-year-old male patient was presented with epigastric pain, followed by dyspepsia and weight loss. The upper endoscopy showed gastric and duodenal distention with prominent folds of gastric mucosa and slow peristalsis. Selective angiography showed stenosis (90% of initial segment of the celiac trunk. Adhesiolysis with the transection of the median arcuate ligament was performed. Due to repeated symptoms, the patient was reoperated on the 10th postoperative day with performed adhesiolysis and gastrostomy for gastric nutrition. Two months later, the patient was rehospitalized for closure of gastrostomy. At five years follow-up, selective angiography showed no stenosis of the initial segment of the celiac artery. Conclusion. Despite the existing controversy concerning pathophysiological mechanism, the clinical presentation and treatment modalities of patients with MAL syndrome, it is evident that careful selection and adequate surgical treatment may significantly reduce symptoms in these patients.

  11. Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

    Science.gov (United States)

    Carvalho, Ellaine; Honjo, Rachel; Magalhães, Monize; Yamamoto, Guilherme; Rocha, Katia; Naslavsky, Michel; Zatz, Mayana; Passos-Bueno, Maria Rita; Kim, Chong; Bertola, Debora

    2015-05-01

    Schinzel-Giedion syndrome is a rare autosomal dominant disorder comprising postnatal growth failure, profound developmental delay, seizures, facial dysmorphisms, genitourinary, skeletal, neurological, and cardiac defects. It was recently revealed that Schinzel-Giedion syndrome is caused by de novo mutations in SETBP1, but there are few reports of this syndrome with molecular confirmation. We describe two unrelated Brazilian patients with Schinzel-Giedion syndrome, one of them carrying a novel mutation. We also present a review of clinical manifestations of the syndrome, comparing our cases to patients reported in literature emphasizing the importance of the facial gestalt associated with neurological involvement for diagnostic suspicion of this syndrome. © 2015 Wiley Periodicals, Inc.

  12. POEMS syndrome associated with Castleman disease: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Juan Kang

    2014-06-01

    Full Text Available Polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes (POEMS syndrome is a multisystemic disorder that clinically manifests as paraneoplastic and monoclonal plasma cell dyscrasia. Its acronym is derived from its principal characteristics: polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes. Here, the authors reported a case of POEMS syndrome that was also associated with Castleman disease. A 53-year-old female patient was admitted to our hospital with limb weakness, numbness, edema, abdominal distention, and fever. Physical examination revealed tetraplegia, paraesthesia, and hyporeflexia in all four limbs, in addition to lymphadenectasis, splenomegaly, skin hyperpigmentation, hypertrichosis, and pitting edema. Laboratory tests and imaging revealed thrombocytosis, hypothyroidism, diabetes, hydropericardium, hydrothorax, splenomegaly, and lymphadenectasis. Electromyography showed the characteristic patterns of both demyelinating disease and axonal degeneration. Serum protein electrophoresis revealed monoclonal immunoglobulin G-lambda paraproteins. Histological examination clearly diagnosed the disease as the hyaline vascular subtype. The final diagnosis in this case was POEMS syndrome in association with Castleman disease.

  13. Prune-belly syndrome in two children and review of the literature.

    Science.gov (United States)

    Bogart, Megan M; Arnold, Holly E; Greer, Kenneth E

    2006-01-01

    Prune-belly syndrome is a congenital disorder characterized by abdominal wall musculature deficiency, urinary tract anomalies, and bilateral cryptorchidism. Because of the defect in the musculature, the abdominal skin has a peculiar wrinkled appearance. The syndrome is commonly associated with pulmonary, skeletal, cardiac, and gastrointestinal defects. Developmental delays and growth retardation have also been reported. The incidence of prune belly syndrome is approximately 1:40,000 live births. Over 95% of patients are men. Urinary tract disease is the major prognostic factor, with the complications of pulmonary hypoplasia and end stage renal disease resulting in a mortality rate of 60%. Treatment involves surgical correction of the abdominal wall defect and urinary tract abnormalities, early orchiopexy, and supportive management of associated defects.

  14. [Thymic disease associated with nephrotic syndrome: a new case with membranous nephropathy and literature review].

    Science.gov (United States)

    Seguier, J; Guillaume-Jugnot, P; Ebbo, M; Daniel, L; Jourde-Chiche, N; Burtey, S; Bernit, E; Thomas, P; Harlé, J-R; Schleinitz, N

    2015-07-01

    Malignant thymoma or thymic hyperplasia is associated with various autoimmune diseases. Renal disease has rarely been reported in this condition. We report a new case with improvement of renal disease after thymectomy. A 77-year-old-women with nephritic syndrome was found to have associated thymic mass. Renal pathology showed membranous nephropathy. The thymic mass pathology showed a B2 type thymoma. After thymectomy the nephrotic syndrome improved. Glomerulopathy can be secondary to an acquired thymic disease. Membranous nephropathy but also other glomerular diseases can be observed often presenting with nephritic syndrome. Despite the rarity of this association this clinical observation underlines that a thymoma should be searched in the presence of a glomerulopathy. The glomerulopathy can be improved by the treatment of the thymoma. Copyright © 2014 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  15. Crouzon′s syndrome: A review of literature and case report

    Directory of Open Access Journals (Sweden)

    Vivek Padmanabhan

    2011-01-01

    Full Text Available Crouzon′s syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon′s syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2 gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early then it may interfere with the growth of the brain. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Case report of a 7 year old boy is presented with characteristic features of Crouzon′s syndrome with mental retardation. The clinical, radiographic features along with the complete oral rehabilitation done under general anesthesia and preventive procedures done are described.

  16. Recurrent Masses after Testicular Cancer: Growing Teratoma Syndrome. A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Fanny Priod

    2017-10-01

    Full Text Available Background: Growing teratoma syndrome is a rare syndrome that affects patients with nonseminomatous germ-cell tumors (NSGCTs. It is characterized by recurrent growing masses that appear during or after chemotherapy in the presence of normal levels of tumor markers. Histological examination is the only way to confirm the diagnosis. Case Presentation: We present the case of a 36-year-old man who developed recurrent masses after curative treatment for NSGCT of the testicle. His tumor markers were normal. The patient was cured after multiple surgical procedures. Conclusions: Close follow-up after treatment for NSGCT is very important for early detection of this syndrome, which can occur even many years after tumor onset. Normal blood makers can be misleading, and surgery remains the only curative treatment.

  17. Mental illness and metabolic syndrome – a literature review

    Directory of Open Access Journals (Sweden)

    Urszula J Łopuszańska

    2014-11-01

    Full Text Available [b]introduction and objective[/b]. Researchers’ opinions are divided on whether metabolic syndrome is a separate clinical entity. Undoubtedly, the components of the syndrome, such as abdominal obesity, hypertension, impaired glucose tolerance, hypertriglyceridaemia, adversely affect metabolism, bringing with it a number of consequences, including type 2 diabetes and cardiovascular disease which significantly impair the quality of life. abbreviated [b]description of the state of knowledge[/b]. In recent years, much attention has been paid to research on the prevalence of metabolic disorders in mentally ill patients. This is due to a growing awareness that some antipsychotic medications contribute to weight gain in patients suffering from mental illness, and consequently lead to the development of a number of interrelated somatic factors, such as abdominal obesity, impaired glucose tolerance, hypertriglyceridaemia, and hypertension. Weight gain and other metabolic syndrome components have been noticed not only in patients, but also in their families. This paper presents current research on the prevalence of metabolic syndrome in people with mental illness. An analysis of the causes of metabolic disorders in this population has been conducted, including the role of the hypothalamic-pituitary-adrenal axis and cortisol secretion in the development of components of metabolic syndrome. [b]conclusions[/b]. Components of the metabolic syndrome are especially observed in mentally ill people. The mechanisms of their formation are not fully understood. A large role in their formation besides the negative effects of antipsychotic medication and specific lifestyle, play a specific dysregulation of the hypothalamic-pituitary-adrenal axis. Undoubtedly, further research and analysis in this area is necessary.

  18. Clinical subtypes of chronic traumatic encephalopathy: literature review and proposed research diagnostic criteria for traumatic encephalopathy syndrome.

    Science.gov (United States)

    Montenigro, Philip H; Baugh, Christine M; Daneshvar, Daniel H; Mez, Jesse; Budson, Andrew E; Au, Rhoda; Katz, Douglas I; Cantu, Robert C; Stern, Robert A

    2014-01-01

    The long-term consequences of repetitive head impacts have been described since the early 20th century. Terms such as punch drunk and dementia pugilistica were first used to describe the clinical syndromes experienced by boxers. A more generic designation, chronic traumatic encephalopathy (CTE), has been employed since the mid-1900s and has been used in recent years to describe a neurodegenerative disease found not just in boxers but in American football players, other contact sport athletes, military veterans, and others with histories of repetitive brain trauma, including concussions and subconcussive trauma. This article reviews the literature of the clinical manifestations of CTE from 202 published cases. The clinical features include impairments in mood (for example, depression and hopelessness), behavior (for example, explosivity and violence), cognition (for example, impaired memory, executive functioning, attention, and dementia), and, less commonly, motor functioning (for example, parkinsonism, ataxia, and dysarthria). We present proposed research criteria for traumatic encephalopathy syndrome (TES) which consist of four variants or subtypes (TES behavioral/mood variant, TES cognitive variant, TES mixed variant, and TES dementia) as well as classifications of 'probable CTE' and 'possible CTE'. These proposed criteria are expected to be modified and updated as new research findings become available. They are not meant to be used for a clinical diagnosis. Rather, they should be viewed as research criteria that can be employed in studies of the underlying causes, risk factors, differential diagnosis, prevention, and treatment of CTE and related disorders.

  19. A case study and literature review of surgical treatment for brachial plexus pain caused by Pancoast syndrome

    Directory of Open Access Journals (Sweden)

    Xian Hang

    2016-10-01

    Full Text Available This study reports the diagnosis and treatment of brachial plexus-associated intractable pain caused by Pancoast syndrome, along with the associated literature review, based on a patient we attended to in April 2011. A full examination was performed after his admission, and neurolysis was conducted on the right brachial plexus of lower trunk. Follow-ups and treatment evaluations were carried out 1, 2, 3, and 6 months after the initial neurolysis procedure, which was followed by a radiation therapy two months later. The patient’s pain symptoms were relieved and he partially regained sense awareness and movement of his right hand. We found that early clinical manifestations of Pancoast syndrome are atypical and are sometimes difficult to detect. It is very similar to brachial plexus injury-related pain, and the patient must be referred to an orthopaedics or hand surgery specialist for treatment. Therefore, improving medical practitioners’ general understanding of this disease is essential in order to avoid potential misdiagnoses.

  20. Chronic exertional compartment syndrome in a collegiate soccer player: a case report and literature review.

    Science.gov (United States)

    Farr, Derek; Selesnick, Harlan

    2008-07-01

    Chronic exertional compartment syndrome is a relatively rare condition among running athletes. In those who engage in repetitive activity, it can cause severe, debilitating leg pain. The diagnosis can be made with a thorough workup that includes history and physical examination, radiologic studies (x-rays, magnetic resonance imaging, bone scan), and compartment pressure monitoring. Most patients do not respond well to nonoperative intervention. Fasciotomy provides satisfactory relief of symptoms and helps patients return to their sports. We present the case of a high-level collegiate soccer player with chronic exertional compartment syndrome.

  1. Eagle syndrome : A comprehensive review

    NARCIS (Netherlands)

    Badhey, Arvind; Jategaonkar, Ameya; Kovacs, Alexander Joseph Anglin; Kadakia, Sameep; De Deyn, Peter Paul; Ducic, Yadranko; Schantz, Stimson; Shin, Edward

    The objective of this report is to summarize the symptoms, diagnostic workup, necessary imaging, and management of Eagle syndrome. A comprehensive literature review was conducted on peer-reviewed publications of Eagle syndrome across multiple disciplines in order to gain a thorough understanding of

  2. Apert Syndrome in Lagos – a Case Report and Literature Review ...

    African Journals Online (AJOL)

    Apert Syndrome is a rare autosomal dominant disorder characterized by premature fusion of sutures of bones of the skull (Craniosynostosis), fingers and toes (Syndactyly) to different degree. Though it is rare, it is pertinent for clinicians to know about this condition so as to improve their ability to manage it and to note that ...

  3. Growing teratoma syndrome: A case report and review of the literature

    African Journals Online (AJOL)

    teratoma syndrome (GTS) of the ovary was made. She underwent exploratory laparotomy with total abdominal hysterectomy and left salpingo-oophorectomy, and debulking of tumour tissue from the pelvis, Morison's pouch, the diaphragm and the sub-hepatic region. Intraoperatively, deposits were noted on the left ovary and.

  4. Posterior reversible encephalopathy syndrome in childhood: report of four cases and review of the literature.

    Science.gov (United States)

    Endo, Ayumi; Fuchigami, Tatsuo; Hasegawa, Maki; Hashimoto, Koji; Fujita, Yukihiko; Inamo, Yasuji; Mugishima, Hideo

    2012-02-01

    Posterior reversible encephalopathy syndrome (PRES) is a recently described disorder with typical radiological findings of bilateral gray and white matter abnormalities in the posterior regions of the cerebral hemispheres and cerebellum. Its clinical symptoms include headache, decreased alertness, mental abnormalities such as confusion, diminished spontaneity of speech, and changed behavior ranging from drowsiness to stupor, seizures, vomiting, and abnormalities of visual perception such as cortical blindness. In this study, the clinical and radiological findings of 4 children with this syndrome due to a variety of conditions are reported. The records of 4 children with a diagnosis of PRES were retrospectively analyzed. PRES is associated with a disorder of cerebrovascular autoregulation of multiple etiologies. Four patients with PRES who had primary diagnoses of severe aplastic anemia, nephritic syndrome, Henoch-Schönlein purpura, and acute poststreptococcal glomerulonephritis are presented. This syndrome has been described in numerous medical conditions, including hypertensive encephalopathy, eclampsia, and with the use of immunosuppressive drugs. Early recognition of PRES as a complication during different diseases and therapies in childhood may facilitate precise diagnosis and appropriate treatment.

  5. Ortner's syndrome: a case report and literature review

    International Nuclear Information System (INIS)

    Dutra, Bruno Landim; Campos, Lenilton da Costa; Marques, Helder de Castro; Vilela, Vagner Moyses; Duque, Andre Geraldo da Silva

    2015-01-01

    The authors report the case of a 55-year-old female, hypertensive, smoker patient presenting with dysphonia, dysphagia and persistent dry cough. Laryngoscopy diagnosed left vocal cord paralysis. Computed tomography demonstrated saccular aneurysm of the inferior wall of the aortic arch, stretching the left recurrent laryngeal nerve, a finding compatible with Ortner's syndrome. (author)

  6. Ortner's syndrome: a case report and literature review

    Energy Technology Data Exchange (ETDEWEB)

    Dutra, Bruno Landim; Campos, Lenilton da Costa; Marques, Helder de Castro; Vilela, Vagner Moyses, E-mail: brunolandim@yahoo.com.br [Universidade Federal de Juiz de Fora (HU/UFJF), MG (Brazil). Hospital Universitario. Unidade de Radiologia e Diagnostico por Imagem; Carvalho, Rodolfo Elias Diniz da Silva [Centro de Diagnostico Medico (CRM), Sao Mateus, ES (Brazil); Duque, Andre Geraldo da Silva [Axial Medicina Diagnostica, Belo Horizonte, MG (Brazil)

    2015-07-15

    The authors report the case of a 55-year-old female, hypertensive, smoker patient presenting with dysphonia, dysphagia and persistent dry cough. Laryngoscopy diagnosed left vocal cord paralysis. Computed tomography demonstrated saccular aneurysm of the inferior wall of the aortic arch, stretching the left recurrent laryngeal nerve, a finding compatible with Ortner's syndrome. (author)

  7. 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...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1983-01-01

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

  9. Liddle Syndrome: Review of the Literature and Description of a New Case

    Directory of Open Access Journals (Sweden)

    Martina Tetti

    2018-03-01

    Full Text Available Liddle syndrome is an inherited form of low-renin hypertension, transmitted with an autosomal dominant pattern. The molecular basis of Liddle syndrome resides in germline mutations of the SCNN1A, SCNN1B and SCNN1G genes, encoding the α, β, and γ-subunits of the epithelial Na+ channel (ENaC, respectively. To date, 31 different causative mutations have been reported in 72 families from four continents. The majority of the substitutions cause an increased expression of the channel at the distal nephron apical membrane, with subsequent enhanced renal sodium reabsorption. The most common clinical presentation of the disease is early onset hypertension, hypokalemia, metabolic alkalosis, suppressed plasma renin activity and low plasma aldosterone. Consequently, treatment of Liddle syndrome is based on the administration of ENaC blockers, amiloride and triamterene. Herein, we discuss the genetic basis, clinical presentation, diagnosis and treatment of Liddle syndrome. Finally, we report a new case in an Italian family, caused by a SCNN1B p.Pro618Leu substitution.

  10. Cortisol, obesity, and the metabolic syndrome: a cross-sectional study of obese subjects and review of the literature.

    Science.gov (United States)

    Abraham, S B; Rubino, D; Sinaii, N; Ramsey, S; Nieman, L K

    2013-01-01

    Circulating cortisol and psychosocial stress may contribute to the pathogenesis of obesity and metabolic syndrome (MS). To evaluate these relationships, a cross-sectional study of 369 overweight and obese subjects and 60 healthy volunteers was performed and reviewed the previous literature. Overweight and obese subjects had at least two other features of Cushing's syndrome. They underwent measurements representing cortisol dynamics (24 h urine cortisol excretion (UFC), bedtime salivary cortisol, 1 mg dexamethasone suppression test) and metabolic parameters (BMI, blood pressure (BP); fasting serum triglycerides, HDL, insulin, and glucose). Subjects also completed the Perceived Stress Scale (PSS). UFC, salivary cortisol, and weight from 60 healthy volunteers were analyzed. No subject had Cushing's syndrome. UFC and dexamethasone responses were not associated with BMI or weight. However, salivary cortisol showed a trend to increase as BMI increased (P cortisol levels were weak to moderately correlated with fasting insulin (rs = -0.31, P = 0.01) and HOMA-IR (rs = -0.31, P = 0.01) in men and systolic (rs = 0.18, P = 0.02) and diastolic BP (rs = 0.20, P = 0.009) in women. PSS results were higher in obese subjects than controls, but were not associated with cortisol or metabolic parameters. As expected, WC correlated with fasting insulin, HOMA-IR, and systolic BP (adjusted for BMI and gender; P cortisol and metabolic parameters. Taken together, these data do not support a strong relationship between systemic cortisol or stress and obesity or MS. Copyright © 2013 The Obesity Society.

  11. Asthma-chronic obstructive pulmonary disease overlap syndrome – Literature review and contributions towards a Portuguese consensus

    Directory of Open Access Journals (Sweden)

    D. Araújo

    2017-03-01

    Full Text Available Introduction: Phenotypic overlap between the two main chronic airway pulmonary diseases, asthma and chronic obstructive pulmonary disease (COPD, has been the subject of debate for decades, and recently the nomenclature of asthma-COPD overlap syndrome (ACOS was adopted for this condition. The definition of this entity in the literature is, however, very heterogeneous, it is therefore important to define how it applies to Portugal. Methods: A literature review of ACOS was made in a first phase resulting in the drawing up of a document that was later submitted for discussion among a panel of chronic lung diseases experts, resulting in reflexions about diagnosis, treatment and clinical guidance for ACOS patients. Results: There was a consensus among the experts that the diagnosis of ACOS should be considered in the concomitant presence of: clinical manifestations characteristic of both asthma and COPD, persistent airway obstruction (post-bronchodilator FEV1/FVC 300 eosinophils/μL or >5% of leukocytes and previous history of atopy should also be considered. The recommended first line pharmacological treatment in these patients is the ICS/LABA association; if symptomatic control is not achieved or in case of clinical severity, triple therapy with ICS/LABA/LAMA may be used. An effective control of the exposure to risk factors, vaccination, respiratory rehabilitation and treatment of comorbidities is also important. Conclusions: The creation of initial guidelines on ACOS, which can be applied in the Portuguese context, has an important role in the generation of a broad nationwide consensus. This will give, in the near future, a far better clinical, functional and epidemiological characterization of ACOS patients, with the ultimate goal of achieving better therapeutic guidance. Keywords: Asthma, Chronic obstructive pulmonary disease, Overlap syndrome, Portuguese consensus

  12. The bonded amalgam restoration--a review of the literature and report of its use in the treatment of four cases of cracked-tooth syndrome.

    Science.gov (United States)

    Bearn, D R; Saunders, E M; Saunders, W P

    1994-05-01

    Recent interest in amalgam as a restorative material has been directed toward the development of the bonded amalgam restoration. The literature regarding the theoretical and clinical aspects of this technique is reviewed. Four cases of successful treatment of cracked-tooth syndrome with the bonded amalgam restoration are presented.

  13. Vascular Endothelial Cell Function in Catastrophic Antiphospholipid Syndrome: A Case Report and Review of the Literature

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    B. Routy

    2013-01-01

    Full Text Available Catastrophic antiphospholipid syndrome (CAPS is a rare autoimmune condition, which has been associated with a high mortality rate. However, with current management that includes a combination of anticoagulation, glucocorticoid administration, and plasma exchange, mortality rate has declined. Despite survival improvement with new generation immunosuppressive agents, their mechanisms of action are poorly defined, and CAPS is still considered a high-risk complication in patients known with antiphospholipid antibody syndrome. Herein, we present a case of a 79-year-old male who presented with a myocardial infarct and renal failure secondary to CAPS following a splenectomy for immune thrombocytopenia. Regardless of rapid combination of first-line treatment and rituximab therapy, the patient developed lethal cardiogenic shock secondary to mitral valve papillary muscle necrosis. Discussion of the pathophysiology and avenues of future therapies in CAPS are reported.

  14. [POEMS syndrome. Report of a case and review of the literature].

    Science.gov (United States)

    Corona, T; Reyes-Báez, B; Rivera Nava, C; del Angel Torres, A

    1991-01-01

    A 47 years old male with POEMS syndrome is presented. His illness started seven months before admission. He was in poor general conditions and had malnutrition. He had cutaneous hyperpigmentation, skin changes, hepatomegaly, edema of the limbs, quadriplegia, myotatic reflexes abolished, hypotrophy of muscular masses and bilateral papilledema. Immunoglobulins IgA and IgM were abnormal. Bone scanning showed multiple lytic lesions. The study of bone marrow showed megaloblastic changes. Electromyography revealed severe neuropathy and biopsy from sural nerve showed severe demyelinization. At first, he showed improvement with steroids; nevertheless he died two months afterwards from possible bronchoaspiration. The autopsy revealed changes compatible with the clinical diagnosis and in addition an adenoma of the hypophysis. We emphasize the importance of POEMS syndrome in the differential diagnosis of polyneuropathies.

  15. McCune-Albright Syndrome: A Case Report and Literature Review

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    Moein Mobini

    2014-04-01

    Full Text Available McCune-Albright syndrome (MAS is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities.  We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentation and X-ray finding were strongly diagnostic for MAS, Patients with McCune-Albright syndrome reach the adult age with a significant burden of the disease that continuously reduces their quality of life. Skeletal deformities, fractures, hyperthyroidism, and hyperestrogenism are just few of the many challenges in the management of these patients. These disorders with close observation and early detection can be controlled.

  16. Cauda Equina Syndrome Due to Lumbar Disc Herniation: a Review of Literature

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    Kapetanakis Stylianos

    2017-12-01

    Full Text Available Cauda equina syndrome (CES is a rare neurologic condition that is caused by compression of the cauda equina. Cauda equina consists of spinal nerves L2-L5, S1-S5 and the coccygeal nerve. The compression of these nerve roots can be caused mainly by lumbar disc herniation (45% of all causes. The diagnosis consists of two critical points: a detailed history and physical examination and b MRI or CT. The gold standard of the treatment of this syndrome is the surgical approach in combination with the timing of onset of symptoms. The surgery as an emergency situation is recommended in the fi rst 48 hours of onset of symptoms. Any delay in diagnosis and treatment leads to a poor prognosis of CES.

  17. Cauda Equina Syndrome Due to Lumbar Disc Herniation: a Review of Literature.

    Science.gov (United States)

    Kapetanakis, Stylianos; Chaniotakis, Constantinos; Kazakos, Constantinos; Papathanasiou, Jannis V

    2017-12-20

    Cauda equina syndrome (CES) is a rare neurologic condition that is caused by compression of the cauda equina. Cauda equina consists of spinal nerves L2-L5, S1-S5 and the coccygeal nerve. The compression of these nerve roots can be caused mainly by lumbar disc herniation (45% of all causes). The diagnosis consists of two critical points: a) detailed history and physical examination and b) MRI or CT. The gold standard of the treatment of this syndrome is the surgical approach in combination with the timing of onset of symptoms. The surgery as an emergency situation is recommended in the fi rst 48 hours of onset of symptoms. Any delay in diagnosis and treatment leads to a poor prognosis of CES.

  18. Post-injection embolia cutis medicamentosa – Nicolau Syndrome: case report and literature review

    Directory of Open Access Journals (Sweden)

    Carlos Alberto Araujo Chagas

    2016-01-01

    Full Text Available Abstract We report on the case of a 40-year-old male who was admitted to the clinic with a large ulcer on his left buttock, 3 days after an intramuscular benzathine penicillin injection. The patient was diagnosed with Nicolau syndrome, a rare vascular complication in which a lesion develops after intramuscular injection. Symptoms are intense pain at the injection site, erythema, and livedoid dermatitis, which leads to necrosis of skin, subcutaneous tissue and muscle tissue. It was described by Nicolau after intramuscular injections of bismuth salt for syphillis therapy. Nicolau syndrome is rare, but its symptoms are devastating and healthcare professionals must be aware of this clinical entity, since intramuscular injections are common procedures for administration of drugs.

  19. Intussusception due to Peutz-Jeghers syndrome - a case report and review of the literature

    International Nuclear Information System (INIS)

    Grasso Filho, Luiz Eduardo; Albertotti, Flavio; Carvalho, Claudio Sobral de; Nersessian, Ana Carolina; Docema, Marcos F. Lima; Ogasawara, Aparecida M.; Peng Yong Sheng; Costacurta, Marco Antonio; Albertotti, Cesar Jose; Cerri, Giovanni Guido

    2000-01-01

    The authors report a case of a 28-year-old woman with ileocecocolic intussusception due to Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract and mucocutaneous pigmentation. This condition frequently presents complications such as intestinal obstruction due to invagination or hemorrhage. In this patient, the diagnosis of intussusception was made preoperatively. The excised material revealed three large polyps which were considered to be the cause of the intussusception. (author)

  20. Phenytoin induced Steven–Johnson syndrome and bronchiolitis obliterans – case report and review of literature

    OpenAIRE

    Pannu, Bibek S.; Egan, Ashley M.; Iyer, Vivek N.

    2016-01-01

    Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are both rare but serious idiosyncratic drug reactions characterized by diffuse muco-epidermoid injury and high mortality. Keratinocytes in both skin and mucous membranes (including eyes, mouth and genitalia) are injured resulting in a diffuse maculopapular rash, blistering lesions and epithelial detachment with minimal force (Nikolsky's sign). SJS is typically diagnosed when less than 10% of the skin surface is involved and ...

  1. An unusual reason of abdominal pain: Rapunzel syndrome case report and literature review

    OpenAIRE

    Buyukbese Sarsu, Sevgi; Karapur, Ali

    2016-01-01

    Bezoar is defined as a mass formed as a consequence of the accumulation of indigestible foreign substances within the gastric outlet or small bowels with resultant dysfunctional gastric emptying Gastric bezoar extending into the  small or large bowel and causing a clinical condition called Rapunzel syndrome This rare pediatric condition is observed in young girls with psychiatric problems such as trichotilomania, who frequently feel an irresistable desire to pluck out, and swallow their hairs...

  2. Jarcho-Levin syndrome with diastematomyelia: Case report of an adult patient and review of literature

    International Nuclear Information System (INIS)

    Kim, Young Seon; Lee, Ji Hae; Kang, Mi Jin; Baek Kyung Eun; Kim, Jae Hyung; Jeong, Myeong Ja; Kim, Soung Hee; Kim, Ji Young; Kim, Soo Hyun; Lee, Han Bee

    2015-01-01

    Jarcho-Levin syndrome (JLS) is a rare congenital dysostosis characterized by multiple vertebral and costal anomalies. The combination of JLS and neural tube defect is rare. Only six cases of JLS accompanying diastematomyelia have been reported; all were in infants or children. We present the case of a 37-year-old female patient with JLS who also had diastematomyelia in lumbar vertebral level. This is the seventh case of JLS with diastematomyelia, and the first adult case.

  3. [Mallory-Weiss syndrome. Clinical cases and review of the literature].

    Science.gov (United States)

    Nincheri Kunz, M; Cozzani, R; Valle, O

    1995-04-01

    Once considered rare, Mallory-Weiss syndrome is today more frequently reported due to the introduction of endoscopy which reveals this syndrome in up to 15% of hemorrhages of the upper digestive tract. The etiopathogenesis is not limited to the three factors reported by Mallory and Weiss in 1929: vomit, alcohol and hematemesis. An important role is also played by ASA and the like. This syndrome is also frequently associated with hiatus hernia in which it appears to be a complication since the lesion seems to be caused by the difference between intragastric (above all in the pocket of the hiatus hernia) and intrathoracic transmural pressure. Every increase in the pressure gradient at this level appears to cause fissuration at the cardioesophageal junction. Even endoscopy using rigid instruments and unsufflation may provoke the onset. Anamnesis and an objective examination, common to other pathologies, are not of great value to diagnosis. Radiology also contributes little, unless an arteriography is performed within the context of a highly selective angiography. Endoscopy is the prime method of diagnosis and, in addition to revealing the site and extent of hemorrhage, may be used to achieve hemostasis. Preendoscopic hemostasis currently uses a wide range of methods ranging from sclerotherapy to the injection of drugs or chemical substances, such as ethanol, adrenalin and thrombin; monopolar and bipolar electrocoagulation, thermal probe, hemoclips and Nd:YAG laser are also used. According to the majority of authors, the course of the syndrome is benign unless there are complications such as mediastinitis, pneumonia ab ingestis or hepatic insufficiency. The degree of bleeding is also decisive and the number of blood units transfused is of particular importance in determining the prognosis. The authors report a 10-year survival rate of approximately 70%.

  4. CURRENT APPROACHES TO THERAPY OF RETT’S SYNDROME (A REVIEW OF LITERATURE

    Directory of Open Access Journals (Sweden)

    N. Yu. Borovikova

    2015-01-01

    Full Text Available Antiepileptic therapy is one of the most urgent problems in the treatment of Rett’s syndrome. By taking into account a common concurrence of generalized and focal seizures with diffuse epileptiform activity on the electroencephalogram (EEG in Rett’s syndrome, there are effective broad-spectrum antiepileptic drugs (AEDs: valproates, topiramate, levetiracetam, lamotrigine. Carbamazepine is effective for focal seizures and in the absence of diffuse EEG changes. For atypical absences, ethosuximide may be added to valproates, topiramate, or levetiracetam. Reflex seizures show a high resistance; their frequency is occasionally reduced by AEDs in combination with neuroleptics. Sleep hygiene, as well as medication (clonidine, zolpidem, trazodone, melatonin, risperidone are recommended to correct various sleep disorders. Dopamine agonists, as well as L-carnitine are used for the drug correction of movement disorders in Rett’s syndrome. Therapeutic exercises are one of the most optimal ways to correct movement disorders. Orthopedic correction, including surgery, is indicated for skeletal deformities. Vitamin D used for long periods of time is beneficial, by considering its deficiency and osteoporosis at a fracture risk in Rett’s syndrome patients who receive AEDs particularly long. A special high-fat diet and a fractional diet in small portions are used in the therapy of cachexia and growth retardation due to oral dysfunction and malnutrition. A cardiological follow-up is needed in abnormalities, such as prolonged Q interval, tachyarrhythmia, and cardiac structural anomalies. Systematic learning to maintain communication and motor skills are of importance. In this case a special role is played by music therapy that exerts a calming effect on patients and partially compensates for loss of contact with the environment.

  5. Jarcho-Levin syndrome with diastematomyelia: Case report of an adult patient and review of literature

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young Seon; Lee, Ji Hae; Kang, Mi Jin; Baek Kyung Eun; Kim, Jae Hyung; Jeong, Myeong Ja; Kim, Soung Hee; Kim, Ji Young; Kim, Soo Hyun; Lee, Han Bee [Dept. of Radiology, Sanggye Paik Hospital, Inje University College of Medicine, Seoul (Korea, Republic of)

    2015-01-15

    Jarcho-Levin syndrome (JLS) is a rare congenital dysostosis characterized by multiple vertebral and costal anomalies. The combination of JLS and neural tube defect is rare. Only six cases of JLS accompanying diastematomyelia have been reported; all were in infants or children. We present the case of a 37-year-old female patient with JLS who also had diastematomyelia in lumbar vertebral level. This is the seventh case of JLS with diastematomyelia, and the first adult case.

  6. Mal de Debarquement Syndrome: A Rare Entity—A Case Report and Review of the Literature

    OpenAIRE

    Nwagwu, Veronica; Patel, Rakesh; Okudo, Jerome

    2015-01-01

    Mal de Debarquement Syndrome (MDS) is a rare, understudied, underdiagnosed, and self-limiting condition. Etiology and incidence are unknown. It is characterized by abnormal sensation of motion/balance reported after travel by air, land, and sea; being reexposed to motion/activity relieves it. Symptoms may last from minutes to years. Workup though required reveals no findings; it is a diagnosis of exclusion. While no efficacious treatment exists, amitriptyline and benzodiazepines as well as su...

  7. Staphylococcal Scalded Skin Syndrome in Child. A Case Report and a Review from Literature

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    Grama Alina

    2016-10-01

    Full Text Available Staphylococcal scalded skin syndrome (SSSS is the medical term used to define a skin condition induced by the exfoliative toxins produced by Staphylococcus aureus. The disorder is also known as Ritter disease, bullous impetigo, neonatal pemphigus, or staphylococcal scarlet fever. The disease especially affects infants and small children, but has also been described in adults. Prompt therapy with proper antibiotics and supportive treatment has led to a decrease in the mortality rate.

  8. Michels syndrome: The first case report from India and review of literature

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    Adedayo A Adio

    2014-01-01

    Full Text Available A 2-year 7-month-old girl born out of a consanguineous marriage, presented at our facility with clinical features characterized by the eyelid triad of blepharophimosis, blepharoptosis and epicanthus inversus in association with hypertelorism, cleft palate and craniosynostosis. This constellation of features is suggestive of Michels syndrome. At the time of writing this report, there were only ten reported cases worldwide and to the best of our knowledge, there have been no published reports from India.

  9. Congenital nephrotic syndrome may respond to cyclosporine A: A case report and review of literature

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    Mulić Bilsana

    2017-01-01

    Full Text Available Introduction. Congenital nephrotic syndrome (CNF is manifested at birth or within the first three months of life. The Finnish-type of CNF is caused by the mutation of the NPHS1 gene, which encodes nephrin in the podocyte slit diaphragm. It is a very severe disease, for which immunosuppressive therapy is not advised. Here we describe a patient with CNF who responded to CsA by partial remission. Case outline. A girl aged 2.5 months presented with severe non-syndromic steroid-resistant nephrotic syndrome. She needed aggressive support including daily albumin infusions and diuretics. Substitution of vitamin D, thyroxin, and anticoagulants were regularly administered. She was also treated with angiotensin converting enzyme inhibitor, without clear benefits regarding proteinuria. In addition, she received intravenous gamma-globulin replacement therapy and antibiotics during frequent infections. While waiting for the results of genetic analyses and faced with many problems related to daily albumin infusions, infections, and thromboembolic complications, cyclosporine A (CsA was introduced as an alternative to early nephrectomy and consequent renal failure. The patient responded by partial remission and CsA treatment continued at home without the albumin infusions. After almost five years since the beginning of the treatment, the patient’s renal function remains unreduced. Conclusion. Our case demonstrates that CsA can induce partial remission in patients with genetic forms of steroid-resistant nephrotic syndrome without influencing the glomerular filtration rate. However, its long-term effect and safety should carefully be monitored. [Project of the Ministry of Education, Science and Technological Development of Republic of Serbia, Grant No. 175079

  10. Meigs’ Syndrome with Elevated Serum CA125: Case Report and Review of the Literature

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    Mongkol Benjapibal

    2009-04-01

    Full Text Available An elevated serum CA125 level in association with a pelvic mass, pleural effusion, and massive ascites usually signifies a dismal prognosis in a postmenopausal woman. However, surgery and histopathological examination are required for the correct diagnosis and treatment, since an elevated CA125 level can be falsely positive for ovarian malignancy. We present a case of Meigs’ syndrome due to right ovarian fibroma with elevated CA125 level in a postmenopausal woman.

  11. Post-injection embolia cutis medicamentosa – Nicolau Syndrome: case report and literature review

    OpenAIRE

    Carlos Alberto Araujo Chagas; Tulio Fabiano de Oliveira Leite; Lucas Alves Sarmento Pires

    2016-01-01

    Abstract We report on the case of a 40-year-old male who was admitted to the clinic with a large ulcer on his left buttock, 3 days after an intramuscular benzathine penicillin injection. The patient was diagnosed with Nicolau syndrome, a rare vascular complication in which a lesion develops after intramuscular injection. Symptoms are intense pain at the injection site, erythema, and livedoid dermatitis, which leads to necrosis of skin, subcutaneous tissue and muscle tissue. It was described b...

  12. 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.

  13. Sjogren's syndrome combined with hypokalemic periodic paralysis (report of 2 cases with review of literature

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    CHENG Xiao-juan

    2012-04-01

    Full Text Available Objective To explore the early diagnosis and the therapy of Sjogren's syndrome combined with hypokalemic periodic paralysis. Methods Clinical data of 2 cases with Sjogren's syndrome and hypokalemic periodic paralysis were analyzed. Results The first symptom of both two cases was suddenly or paroxysmal progressive four limbs weakness. The levels of serum potassium and chloride ion were decreased significantly, combined with alkaline urine, anti SS-A (+, anti SS-B (+, and sometimes with hyperthyroidism or hypothyroidism (the level of serum FT3 and FT4 being lower, or renal failure. In pathological examination of labial gland, mulifocality lymphocytes were seen in glandulae saliviae minores tissue in lower lip, or nature saliva flow rate measurement positive. All the patients' symptom improved after they were given potassium citrate, potassium chloride, sodium bicarbonate and levothyroxine (euthyrox. Conclusion The diagnosis of Sjogren's syndrome and hypokalemic periodic paralysis depends on comprehensive analysis of patient history, physical and laboratory examination. Early diagnosis and treatment can improve the prognosis. The treatment principle includes potassium supplement, correction of acidosis, improvement of thyroid function, and expectant alimentary support.

  14. Cutaneous manifestations of autoimmune polyglandular syndrome type 1 – case report and literature review

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    Julita A. Krahel

    2016-10-01

    Full Text Available Introduction. Autoimmune polyglandular syndrome type 1 (APS-1 is a type of polyendocrinopathy, inherited in an autosomal recessive manner. Beside the classic triad of symptoms (candidiasis of the skin and mucous membranes, hypoparathyroidism and Addison’s disease, other skin and systemic diseases may be present. Objective . To present a patient with history of APS-1, in whom in addition to the classic triad of symptoms vitiligo, alopecia, and dental enamel hypoplasia and nail dystrophy were observed. Case report . A 43-year-old patient, with a history of APS-1 syndrome, was admitted to the hospital because of exacerbation of candidiasis of the mucous membranes of the mouth. Additionally, dystrophy of the nails and the dental enamel, generalized alopecia and extensive vitiligo were observed. Due to antifungal treatment partial clinical improvement was achieved. Conclusions . APS-1 is a potentially life-threatening complex set of symptoms. Consistent treatment and strict follow-up of patients with this syndrome are necessary.

  15. Exogenous Cushing's syndrome due to topical corticosteroid application: case report and review literature.

    Science.gov (United States)

    Tempark, Therdpong; Phatarakijnirund, Voraluk; Chatproedprai, Susheera; Watcharasindhu, Suttipong; Supornsilchai, Vichit; Wananukul, Siriwan

    2010-12-01

    Prolonged use of topical corticosteroids causes systemic adverse effects including Cushing's syndrome and hypothalamic-pituitary-adrenal (HPA) axis suppression, which is less common than that of the oral or parenteral route. At least 43 cases with iatrogenic Cushing syndrome from very potent topical steroid usage (Clobetasol) in children and adult have been published over the last 35 years particularly in developing countries. In children group (n = 22), most are infants with diaper dermatitis and two cases who had started topical application at a very early age and died from severe disseminated CMV infection. For the adult group (n = 21), the most common purpose of steroid use was for treatment of Psoriasis. The recovery period of HPA axis suppression was 3.49 ± 2.92 and 3.84 ± 2.51 months in children and adult, respectively. We report on an 8-month-old female infant who developed Cushing's syndrome and adrenal insufficiency after diaper dermatitis treatment through the misuse of Clobetasol without doctor's prescription. Physiologic dose of hydrocortisone was prescribed to prevent an adrenal crisis for 3 months and discontinued when HPA axis recovery was confirmed by normal morning cortisol and ACTH levels.

  16. Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature.

    Science.gov (United States)

    Depeyre, Arnaud; Schlund, Matthias; Gryseleyn, Rémi; Ferri, Joel

    2018-03-29

    Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by genetic examination. This report describes 3 brothers already diagnosed with ASS who were referred for examination of oral and maxillofacial malformations associated with ASS. They presented classic features of ASS, such as digital and genital (shawl scrotum) anomalies. More specifically, in terms of orbitopalpebral malformations, they showed marked ptosis with hypertelorism and antimongoloid palpebral fissure that gave them the characteristic facies. Concerning their oral and maxillofacial malformations, they had dental and skeletal major discrepancies and some dental agenesia. ASS is a rare X-linked syndrome composed of numerous morphologic facial, digital, and genital anomalies. The diagnosis is established genetically with the FGD1 mutation but there is no phenotypic and genotypic correlation with FGD1 mutations. Concerning maxillofacial malformations, maxillary and mandibular hypoplasia with jaw discrepancies can be found, as can teeth anomalies. It seems that these anomalies are widely underestimated. Copyright © 2018 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  17. Visceroptosis of the Bowel in the Hypermobility type of Ehlers-Danlos Syndrome: Presentation of a Rare Manifestation and Review of the Literature

    Science.gov (United States)

    Reinstein, Eyal; Pimentel, Mark; Pariani, Mitchel; Nemec, Stephen; Sokol, Thomas; Rimoin, David L

    2012-01-01

    Gastrointestinal complications are common in patients with Ehlers-Danlos Syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benign functional symptoms. Here we describe the clinical and radiographic manifestations of visceroptosis of the bowel, a rare complication of Ehlers-Danlos Syndrome that is characterized by prolapse of abdominal organs below their natural position. We further review the literature on gastrointestinal complications in the different forms of Ehlers-Danlos Syndrome. PMID:22781752

  18. Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

    Science.gov (United States)

    Melo, Cláudia; Gama-de-Sousa, Susana; Almeida, Filipa; Rendeiro, Paula; Tavares, Purificação; Cardoso, Helena; Carvalho, Sónia

    2013-10-15

    Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted. © 2013 Elsevier B.V. All rights reserved.

  19. Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment.

    Science.gov (United States)

    De Groote, Katya; Demulier, Laurent; De Backer, Julie; De Wolf, Daniel; De Schepper, Jean; Tʼsjoen, Guy; De Backer, Tine

    2015-07-01

    Turner syndrome is a rare chromosomal disorder with complete or partial absence of one X chromosome that only occurs in women. Clinical presentation is variable, but congenital and acquired cardiovascular diseases are frequently associated diseases that add significantly to the increased morbidity and mortality in Turner syndrome patients. Arterial hypertension is reported in 13-58% of adult Turner syndrome patients and confers an increased risk for stroke and aortic dissection. Hypertension can be present from childhood on and is reported in one-quarter of the paediatric Turner syndrome patients. This article reviews the prevalence and cause of arterial hypertension in Turner syndrome and describes the relationship between blood pressure, aortic dilation and increased cardiovascular risk. We compare current treatment strategies and also propose an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applicable in daily practice.

  20. Haemolytic-uremic syndrome due to infection with adenovirus: A case report and literature review.

    Science.gov (United States)

    Birlutiu, Victoria; Birlutiu, Rares Mircea

    2018-02-01

    Haemolytic-uremic syndrome is a rare but serious complication of bacterial and viral infections, which is characterized by the triad of: acute renal failure, microangiopathic haemolytic anemia and thrombocytopenia, sometimes severe, requiring peritoneal dialysis. In Europe, hemolytic-uremic syndrome (HUS) in paediatric pathology is primarily caused by Shiga toxin-producing Escherichia coli (STEC) O157, followed by O26. Beside these etiologies, there are other bacterial and viral infections, and also noninfectious ones that have been associated to lead to HUS as well: in the progression of neoplasia, medication-related, post-transplantation, during pregnancy or associated with the antiphospholipid syndrome, systemic lupus erythematosus or family causes with autosomal dominant or recessive inheritance. In terms of pathogenesis, HUS is the result of endothelial injury, most commonly being a result of the action of Shiga toxin. The unfavorable prognosis factors being represented by the age of more than 5 years old, different etiologies from STEC, persistent oligoanuria, central nervous system and glomerular impairment, the association of fever with leukocytosis. HUS is responsible for 7% of cases of hypertension in infants, and an important cause of significant kidney damage in adults. We present one case of HUS caused by adenovirus in a boy of 1 year and 7 months old with severe evolution, which required peritoneal dialysis. Stool sample repeated examination for adenovirus antigen was positive in 2 samples. During hospitalization, the patient required 8 peritoneal dialysis sessions. The renal function was corrected on discharge, the patient required cardiovascular monitoring 1 month after discharge. Although the most common cause that leads to HUS remains STEC, other etiologies like viral ones that may be responsible for severe enteric infection with progression into HUS should not be neglected.

  1. Value of ultrasonography in the diagnosis of polycystic ovary syndromeliterature review

    Science.gov (United States)

    Abdalla, Nebil; Cendrowski, Krzysztof; Sawicki, Włodzimierz

    2015-01-01

    Polycystic ovary syndrome is a multi-factorial disease. Its etiopathogenesis has not been elucidated in detail. It is the most common endocrine disorder in women of child-bearing age. This disease entity is primarily characterized by disrupted ovulation and hyperandrogenism, but the clinical picture can be diversified and symptom intensity can vary. Currently, the sonographic assessment of ovaries is one of the obligatory criteria for the diagnosis of PCOS according to the Rotterdam consensus (2003) and Androgen Excess & PCOS Society (2006). This criterion is determined by the presence of ≥12 follicles within the ovary with a diameter of 2–9 mm and/or ovarian volume ≥10 cm3. Such an ultrasound image in one gonad only is sufficient to define polycystic ovaries. The coexistence of polycystic ovaries with polycystic ovary syndrome is confirmed in over 90% of cases irrespective of ethnic factors or race. However, because of the commonness of ultrasound features of polycystic ovaries in healthy women, the inclusion of this sign to the diagnostic criteria of polycystic ovary syndrome is still questioned. The development of new technologies has an undoubted influence on the percentage of diagnosed polycystic ovaries. This process has caused an increase in the percentage of polycystic ovary diagnoses since the Rotterdam criteria were published. It is therefore needed to prepare new commonly accepted diagnostic norms concerning the number of ovarian follicles and the standardization of the technique in which they are counted. The assessment of anti-Müllerian hormone levels as an equivalent of ultrasound features of polycystic ovaries is a promising method. However, analytic methods have to be standardized in order to establish commonly accepted diagnostic norms. PMID:26807298

  2. Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

    Directory of Open Access Journals (Sweden)

    Dudding Tracy

    2010-10-01

    Full Text Available Abstract Smith-Magenis syndrome (SMS is a complex syndrome involving intellectual disabilities, sleep disturbance, behavioural problems, and a variety of craniofacial, skeletal, and visceral anomalies. While the majority of SMS cases harbor an ~3.5 Mb common deletion on 17p11.2 that encompasses the retinoic acid induced-1 (RAI1 gene, some patients carry small intragenic deletions or point mutations in RAI1. We present data on two cases of Smith-Magenis syndrome with mutation of RAI1. Both cases are phenotypically consistent with SMS and RAI1 mutation but also have other anomalies not previously reported in SMS, including spontaneous pneumothoraces. These cases also illustrate variability in the SMS phenotype not previously shown for RAI1 mutation cases, including hearing loss, absence of self-abusive behaviours, and mild global delays. Sequencing of RAI1 revealed mutation of the same heptameric C-tract (CCCCCCC in exon 3 in both cases (c.3103delC one case and and c.3103insC in the other, resulting in frameshift mutations. Of the seven reported frameshift mutations occurring in poly C-tracts in RAI1, four cases (~57% occur at this heptameric C-tract. Collectively, these results indicate that this heptameric C-tract is a preferential hotspot for single nucleotide insertion/deletions (SNindels and therefore, should be considered a primary target for analysis in patients suspected for mutations in RAI1. We expect that as more patients are sequenced for mutations in RAI1, the incidence of frameshift mutations in this hotspot will become more evident.

  3. Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.

    Science.gov (United States)

    Truong, Hoa T; Dudding, Tracy; Blanchard, Christopher L; Elsea, Sarah H

    2010-10-08

    Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep disturbance, behavioural problems, and a variety of craniofacial, skeletal, and visceral anomalies. While the majority of SMS cases harbor an ~3.5 Mb common deletion on 17p11.2 that encompasses the retinoic acid induced-1 (RAI1) gene, some patients carry small intragenic deletions or point mutations in RAI1. We present data on two cases of Smith-Magenis syndrome with mutation of RAI1. Both cases are phenotypically consistent with SMS and RAI1 mutation but also have other anomalies not previously reported in SMS, including spontaneous pneumothoraces. These cases also illustrate variability in the SMS phenotype not previously shown for RAI1 mutation cases, including hearing loss, absence of self-abusive behaviours, and mild global delays. Sequencing of RAI1 revealed mutation of the same heptameric C-tract (CCCCCCC) in exon 3 in both cases (c.3103delC one case and and c.3103insC in the other), resulting in frameshift mutations. Of the seven reported frameshift mutations occurring in poly C-tracts in RAI1, four cases (~57%) occur at this heptameric C-tract. Collectively, these results indicate that this heptameric C-tract is a preferential hotspot for single nucleotide insertion/deletions (SNindels) and therefore, should be considered a primary target for analysis in patients suspected for mutations in RAI1. We expect that as more patients are sequenced for mutations in RAI1, the incidence of frameshift mutations in this hotspot will become more evident.

  4. A classical case of Peutz–Jeghers syndrome with brief review of literature

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    T. Santosh

    2016-06-01

    Full Text Available PJS is an autosomal dominant genetic disease associated with melanin pigment spots on the oral mucosa, lips, nasal alae, palm and soles, as well as hamartomatous polyps in the alimentary canal. Polyps are often a cause of intussusception in the affected patients. Cancers of gastrointestinal system, uterus and breast are common in patients with PJS. Long-term follow-up is required to prevent intussusception in children and cancer in adults. We report a classical case of Peutz–Jeghers syndrome presenting with jejunoileal intussusception in a 9 year old child.

  5. The Coffin-Siris syndrome. A report of four cases and review of the literature.

    Science.gov (United States)

    Lucaya, J; Garcia-Conesa, J A; Bosch-Banyeras, J M; Pons-Peradejordi, G

    1981-01-01

    Four additional cases of the Coffin-Siris syndrome bring the number of reported cases to 16. This disorder is characterized by the absence or hypoplasia of the nails, especially those of the fifth fingers and toes, growth retardation and mental deficiency, microcephaly, coarse facial appearance, sparse scalp hair and lax joints. Feeding difficulties and respiratory problems are common in infancy. Absence or hypoplasia of the distal and middle phalanges, especially those of the fifth finger and toes and retarded bone maturation are the most common radiological features.

  6. Hypothenar hammer syndrome: caused by a muscle anomaly? A case report with review of the literature.

    Science.gov (United States)

    Estermann, Lea; Ducommun, Pascal; Steurer-Dober, Isabelle; Hug, Urs

    2018-05-01

    The hypothenar hammer syndrome (HHS) is a rare entity of secondary Raynaud's phenomenon. The blunt hypothenar trauma causes a lesion of the vessel wall with a consecutive thrombosis or aneurysm of the ulnar artery at the Guyon's canal. Different risk factors are discussed such as nicotine abuse, or a muscle anomaly in the Guyon's canal. To date, there are five case reports published about muscle anomalies and HHS. We present a case of a 51-year-old shipbuilder with a unilateral HHS on his right dominant hand with a bilateral muscle anomaly. We successfully treated the patient by resection of the aneurysm without a resection of the atypical muscle.

  7. Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Wolldridge, J.; Zuncih, J. [Indiana University School of Medicine, Gary, IN (United States)

    1995-04-10

    We report on a 6-year-old boy with mosaic trisomy 9. The patient was born at 42 weeks of gestation to a 27-year-old G1 white woman. Birth weight was 2,820 g, length 52 cm, and Apgar scores were 4 and 6 at 1 and 5 min, respectively. The infant presented with apparently low-set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high-arched palate, micrognathia, bilateral dislocated hips, left genu recurvatum, and cryptorchidism. Chromosome analysis showed an unusual karyotype: 47,XY,+inv(9qh+)/47,XY,+mar. The marker chromosome was thought to be a remnant of the inv (9qh+), while the father`s was 46,XY. At age 5 months, the patient developed seizures and gastroesophageal reflux. Crohn disease was diagnosed at age 2 years, although symptoms began at age 1 year. Recurrent bouts of pneumonia have occurred since the patient`s birth. Severe psychomotor retardation was also noted. Trisomy 9 syndrome was first reported in 1973. Over 30 cases have been reported since then. Of these case reports, only 5 patients were older than 1 year. Inflammatory bowel disease has been reported in association with other chromosome abnormalities, but to our knowledge, has not been reported in trisomy 9 syndrome. 39 refs., 4 figs., 2 tabs.

  8. Cushing’s glucocorticoid syndrome in the practice of a rheumatologist (A review of literature

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    Azamat Makhmudovich Satybaldyev

    2013-12-01

    Full Text Available Glucocorticoids (GCs are used to treat different inflammatory and autoimmune diseases due to their anti-inflammatory and immunoregulatory properties. However, GC may lead to the development of many adverse reactions (ARs: hypertension, diabetes mellitus, lipid metabolic disturbances, sleep apnea, osteoporosis, myopathy, and coagulation and fibrinolysis disorders, which are components of the Itsenko – Cushing syndrome. ARs induced by GCs are known to depend on their composition, route of administration, dose, and duration of treatment. However, the major pathogenic mechanisms of ARs are not clearly defined. There is evidence suggesting a role for imbalance between vasoconstrictionand vasodilation, and its possible association with nitric oxide, prostanoids (prostaglandins, prostacyclin, and thromboxane, angiotensin II, vasopressin, arginine, endothelins, catecholamines, neuropeptides Y, and atrial natriuretic peptide. Enhanced oxidative stress, activated reninangiotensin system, escalating pressor response, metabolic syndrome, and sleep apnea also make their contribution. It could be ideal to discontinue GC treatment; but this is most commonly impossible because of a further disease exacerbation. In addition, it is necessary to carefully plan the choice of the dose, time, and route of administration of GCs and to evaluate each AR. The design of a GC with marked anti-inflammatory activity and insignificant metabolic effects must hold a central position in its researches.

  9. Cushing’s glucocorticoid syndrome in the practice of a rheumatologist (A review of literature

    Directory of Open Access Journals (Sweden)

    Azamat Makhmudovich Satybaldyev

    2013-01-01

    Full Text Available Glucocorticoids (GCs are used to treat different inflammatory and autoimmune diseases due to their anti-inflammatory and immunoregulatory properties. However, GC may lead to the development of many adverse reactions (ARs: hypertension, diabetes mellitus, lipid metabolic disturbances, sleep apnea, osteoporosis, myopathy, and coagulation and fibrinolysis disorders, which are components of the Itsenko – Cushing syndrome. ARs induced by GCs are known to depend on their composition, route of administration, dose, and duration of treatment. However, the major pathogenic mechanisms of ARs are not clearly defined. There is evidence suggesting a role for imbalance between vasoconstrictionand vasodilation, and its possible association with nitric oxide, prostanoids (prostaglandins, prostacyclin, and thromboxane, angiotensin II, vasopressin, arginine, endothelins, catecholamines, neuropeptides Y, and atrial natriuretic peptide. Enhanced oxidative stress, activated reninangiotensin system, escalating pressor response, metabolic syndrome, and sleep apnea also make their contribution. It could be ideal to discontinue GC treatment; but this is most commonly impossible because of a further disease exacerbation. In addition, it is necessary to carefully plan the choice of the dose, time, and route of administration of GCs and to evaluate each AR. The design of a GC with marked anti-inflammatory activity and insignificant metabolic effects must hold a central position in its researches.

  10. Rare variant of misme syndrome – a case report with review of literature

    Directory of Open Access Journals (Sweden)

    Dwivedi Ashish Kumar

    2016-09-01

    Full Text Available MISME syndrome, also known as neurofibromatosis type-2 (NF2, stands for multiple inherited schwannomas, meningiomas, and ependymomas (MISME in the peripheral and central nervous system. It is a rare disorder of autosomal dominant inheritance due to mutations of a tumor-suppressor gene on the chromosome 22q12. Clinically, it is characterized by multiple benign tumors arising in both the central and the peripheral nervous system, particularly from the bilateral vestibular nerve in more than 90% of the patients and more than two thirds of them develop spinal tumors. Simultaneous occurrence of bilateral vestibular schwanoma with cervical and lumbar ependymoma without neuro cutaneous marker with weakness of limb as initial presentation is rare finding in single patient. Here, we are reporting a rare case of MISME syndrome harbouring bilateral vestibular schwanoma with cervical and lumbar ependymoma tumors in a 45 year old male patient having no other lesion and neurocutaneous marker with weakness of limb as initial presentation without posterior subcapsular cataract.

  11. [PRES (Posterior Reversible Encephalopathy Syndrome): potential complication of hypertensive crisis. Case report and literature review].

    Science.gov (United States)

    Vergura, Michele; Prencipe, Michele; Del Giudice, Antonio Maria; Grifa, Rachele; Miscio, Filomena; Pennelli, Anna Maria; Popolizio, Teresa; Simeone, Anna; Ferrara, Mariangela; Leone, Maurizio; Aucella, Filippo

    2017-04-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiological syndrome, usually reversible, characterized by vasogenic oedema in cerebral posterior regions in patients with autoimmune diseases, nephropathies, hypertensive crisis, eclampsia and exposure to cytotoxic drugs. The main symptoms are: headache, nausea, vomiting, seizures, visual disturbance and altered consciousness. Complications as cerebral hemorrhage and recurrences are rare. We describe a case of a 65 years old woman, affected by chronic kidney disease, recently exacerbated, diabetes and hypertension in treatment, who showed an heterogeneous clinical presentation with vomiting, headache, blurred vision and impaired consciousness during an episode of acute hypertension. After an adjustement of the antihypertensive treatment we observed a regression of symptoms in one week. FLAIR sequences on MRI showed cerebral bilateral vasogenic oedema in posterior regions, typical for PRES. This case was suggestive for PRES and a prompt adjustement of the antihypertensive treatment was critical for clinical recovery. Brain MRI was crucial for diagnosis. It is important for clinicians to recognize PRES as a possible complication of renal disease and hypertensive crisis. Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.

  12. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) - a case report and review of literature.

    Science.gov (United States)

    Figura, Monika; Gaweł, Małgorzata; Kolasa, Anna; Janik, Piotr

    2014-01-01

    CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome) is a rare neurological syndrome of unknown etiology. The main clinical features include bilateral vestibulopathy, cerebellar ataxia and sensory neuropathy. An abnormal visually enhanced vestibulo-ocular reflex is the hallmark of the disease. We present a case of 58-year-old male patient who has demonstrated gait disturbance, imbalance and paresthesia of feet for 2 years. On examination ataxia of gait, diminished knee and ankle reflexes, absence of plantar reflexes, fasciculations of thigh muscles, gaze-evoked downbeat nystagmus and abnormal visually enhanced vestibulo-ocular reflex were found. Brain magnetic resonance imaging revealed cerebellar atrophy. Vestibular function testing showed severely reduced horizontal nystagmus in response to bithermal caloric stimulation. Nerve conduction study revealed loss of upper and lower limb sensory nerve action potentials. The course of illness was progressive with ataxic gait and unsteadiness as the most disabling symptoms. We report 4-year follow-up of the patient since the beginning of the disease. Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  13. Overlapping DRESS and Stevens-Johnson Syndrome: Case Report and Review of the Literature

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    Aneline Casagranda

    2017-05-01

    Full Text Available Drug-induced severe cutaneous adverse reactions (SCARs include acute generalized exanthematous pustulosis, drug reaction with eosinophilia and systemic symptoms (DRESS, and epidermal necrolysis (Stevens-Johnson syndrome [SJS], toxic epidermal necrolysis. The identification of the causal drug is crucial in order to avoid further exposure, but making the right differential diagnosis of the type of SCAR is equally important since treatment, follow-up, and prognosis of different SCARs are not the same. These syndromes are distinct entities with different clinical, biological, and histological patterns, but sometimes the early distinction between 2 SCARs can be extremely challenging, and overlapping conditions could therefore be taken into consideration, although true overlapping SCARs are very rare when using strict diagnostic criteria (described by the RegiSCAR group. Only a better understanding of the physiopathology of the SCARs could possibly explain these ambiguities and overlaps. We report a case of SCAR in an 86-year-old patient probably induced by allopurinol and simultaneously fulfilling the diagnostic criteria for DRESS and SJS, thus considered as an overlapping case of SCARs.

  14. Overlapping DRESS and Stevens-Johnson Syndrome: Case Report and Review of the Literature.

    Science.gov (United States)

    Casagranda, Aneline; Suppa, Mariano; Dehavay, Florence; Del Marmol, Véronique

    2017-01-01

    Drug-induced severe cutaneous adverse reactions (SCARs) include acute generalized exanthematous pustulosis, drug reaction with eosinophilia and systemic symptoms (DRESS), and epidermal necrolysis (Stevens-Johnson syndrome [SJS], toxic epidermal necrolysis). The identification of the causal drug is crucial in order to avoid further exposure, but making the right differential diagnosis of the type of SCAR is equally important since treatment, follow-up, and prognosis of different SCARs are not the same. These syndromes are distinct entities with different clinical, biological, and histological patterns, but sometimes the early distinction between 2 SCARs can be extremely challenging, and overlapping conditions could therefore be taken into consideration, although true overlapping SCARs are very rare when using strict diagnostic criteria (described by the RegiSCAR group). Only a better understanding of the physiopathology of the SCARs could possibly explain these ambiguities and overlaps. We report a case of SCAR in an 86-year-old patient probably induced by allopurinol and simultaneously fulfilling the diagnostic criteria for DRESS and SJS, thus considered as an overlapping case of SCARs.

  15. Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature.

    Science.gov (United States)

    Li, Zheng; Shen, Jianxiong; Liang, Jinqian; Sheng, Lin

    2015-05-01

    The Smith-Magenis syndrome (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations. Little is reported about spinal deformity associated with this syndrome.This study is to present a case of scoliosis occurring in the setting of SMS and explore the possible mechanisms between the 2 diseases.The patient is a 13-year-old Chinese female with congenital scoliosis and Tetralogy of Fallot, mental retardation, obstructive sleep apnea, hypertrophy of tonsil, conductive hearing loss, and agenesis of the epiglottis. An interphase fluorescent in situ hybridization at chromosome 17p11.2 revealed a heterozygous deletion, confirming a molecular diagnosis of SMS. She underwent a posterior correction at thoracic 1-lumbar 1 (T1-L1) levels, using the Moss-SI spinal system. At 6-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of correction.Congenital cardiac disease, immunodeficiency, and severe behavioral problems can affect the surgical outcome following spine fusion and need to be taken into consideration for the surgeon and anesthesiologist. Scoliosis is not uncommon among patients with SMS, and there is a potential association between congenital scoliosis and SMS. The potential mechanisms in the pathogenesis of congenital scoliosis of SMS included retinoic acid-induced 1 (RAI1) microdeletion and RAI1 gene point mutation.

  16. Heart rate variability measurement and clinical depression in acute coronary syndrome patients: narrative review of recent literature

    Science.gov (United States)

    Harris, Patricia RE; Sommargren, Claire E; Stein, Phyllis K; Fung, Gordon L; Drew, Barbara J

    2014-01-01

    Aim We aimed to explore links between heart rate variability (HRV) and clinical depression in patients with acute coronary syndrome (ACS), through a review of recent clinical research literature. Background Patients with ACS are at risk for both cardiac autonomic dysfunction and clinical depression. Both conditions can negatively impact the ability to recover from an acute physiological insult, such as unstable angina or myocardial infarction, increasing the risk for adverse cardiovascular outcomes. HRV is recognized as a reflection of autonomic function. Methods A narrative review was undertaken to evaluate state-of-the-art clinical research, using the PubMed database, January 2013. The search terms “heart rate variability” and “depression” were used in conjunction with “acute coronary syndrome”, “unstable angina”, or “myocardial infarction” to find clinical studies published within the past 10 years related to HRV and clinical depression, in patients with an ACS episode. Studies were included if HRV measurement and depression screening were undertaken during an ACS hospitalization or within 2 months of hospital discharge. Results Nine clinical studies met the inclusion criteria. The studies’ results indicate that there may be a relationship between abnormal HRV and clinical depression when assessed early after an ACS event, offering the possibility that these risk factors play a modest role in patient outcomes. Conclusion While a definitive conclusion about the relevance of HRV and clinical depression measurement in ACS patients would be premature, the literature suggests that these measures may provide additional information in risk assessment. Potential avenues for further research are proposed. PMID:25071372

  17. An adolescent girl with Rapunzel syndrome: Case report with review of literature

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    Pradnya M Diggikar

    2013-01-01

    Full Text Available Trichobezoar is a collection of dense mass of hair in stomach. When this extends into any part of the small intestine it is called Rapunzel Syndrome (RS. We report here, a case of RS in an adolescent girl who had presented with epigastric pain and swelling. Gastroscopy confirmed the presence of trichobezoar. She underwent gastrotomy and a large dense mass of hair extending up to first part of duodenum was removed. Her parents revealed their daughter′s impulsive nature of scalp-hair pulling. Following surgery, Psychiatric consultation was sought to prevent recurrence. Trichobezoar is a very rare cause of upper abdominal mass and should be considered if there is a very strong history of impulsive hair pulling. Surgical removal of a large trichobezoar is the only treatment of cure and psychiatric treatment that prevents its recurrence.

  18. Congenital Short Bowel Syndrome: A Case Report and Review of the Literature

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    Mohammed Hasosah

    2008-01-01

    Full Text Available Congenital short bowel syndrome (SBS is a rare condition of the newborn, with several reports demonstrating high mortality. A six-week-old boy presented with chronic diarrhea and failure to thrive. An upper gastrointestinal endoscopy showed a straight duodenum, and multiple small bowel biopsies were histologically normal. An upper gastrointestinal series showed malrotation. At laparotomy, the small bowel was 50 cm in length, confirming the diagnosis of congenital SBS. Parenteral nutrition was initiated and enteral feeding with an amino acid-based formula containing long-chain fatty acids was introduced early and gradually advanced. At the last follow-up examination at 24 months, he was thriving on a regular diet, with normal growth and development. Long-term survival of children with congenital SBS is now possible if enteral feeds are introduced early to promote intestinal adaptation, with subsequent weaning off parenteral nutrition.

  19. Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.

    Science.gov (United States)

    Maaloul, I; Talmoudi, J; Chabchoub, I; Ayadi, L; Kamoun, T H; Boudawara, T; Kallel, C H; Hachicha, M

    2016-06-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case of CHS in a 2-year-old boy who presented in the accelerated phase of the disease. CHS diagnosis was made on the basis of clinical characteristics, hair analysis, and identification of pathognomonic giant azurophilic granules in peripheral blood and bone marrow. Copyright © 2015 King Faisal Specialist Hospital & Research Centre. Published by Elsevier Ltd. All rights reserved.

  20. Spinal muscular atrophy with respiratory distress syndrome (SMARD1: Case report and review of literature

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    Lokesh Lingappa

    2016-01-01

    Full Text Available Spinal muscular atrophy with respiratory distress syndrome (SMARD1 is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2. These two cases establish presence of SMARD1 in our population. Both infants died on discontinuation of ventilation. Antenatal diagnoses done in one pregnancy. Though rare, high index of suspicion is essential in view of poor outcome and aid antenatal counseling.

  1. Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature.

    Science.gov (United States)

    Lingappa, Lokesh; Shah, Nikit; Motepalli, Ananth Sagar; Shaik, Farhan

    2016-01-01

    Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2). These two cases establish presence of SMARD1 in our population. Both infants died on discontinuation of ventilation. Antenatal diagnoses done in one pregnancy. Though rare, high index of suspicion is essential in view of poor outcome and aid antenatal counseling.

  2. Mal de Debarquement Syndrome: A Rare Entity—A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Veronica Nwagwu

    2015-01-01

    Full Text Available Mal de Debarquement Syndrome (MDS is a rare, understudied, underdiagnosed, and self-limiting condition. Etiology and incidence are unknown. It is characterized by abnormal sensation of motion/balance reported after travel by air, land, and sea; being reexposed to motion/activity relieves it. Symptoms may last from minutes to years. Workup though required reveals no findings; it is a diagnosis of exclusion. While no efficacious treatment exists, amitriptyline and benzodiazepines as well as supportive therapy have proved to be useful. We have described a 40-year-old Caucasian female who presented for the evaluation of persistent rocking and swaying sensation after a ship cruise which lasted for one week. Patient was treated with benzodiazepines after extensive workup and is now stable. A high index of suspicion is required to make a diagnosis.

  3. Mal de Debarquement Syndrome: A Rare Entity-A Case Report and Review of the Literature.

    Science.gov (United States)

    Nwagwu, Veronica; Patel, Rakesh; Okudo, Jerome

    2015-01-01

    Mal de Debarquement Syndrome (MDS) is a rare, understudied, underdiagnosed, and self-limiting condition. Etiology and incidence are unknown. It is characterized by abnormal sensation of motion/balance reported after travel by air, land, and sea; being reexposed to motion/activity relieves it. Symptoms may last from minutes to years. Workup though required reveals no findings; it is a diagnosis of exclusion. While no efficacious treatment exists, amitriptyline and benzodiazepines as well as supportive therapy have proved to be useful. We have described a 40-year-old Caucasian female who presented for the evaluation of persistent rocking and swaying sensation after a ship cruise which lasted for one week. Patient was treated with benzodiazepines after extensive workup and is now stable. A high index of suspicion is required to make a diagnosis.

  4. Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review.

    Science.gov (United States)

    Valera Yepes, Rocío; Virgili Casas, Maria; Povedano Panades, Monica; Guerrero Gual, Mireia; Villabona Artero, Carles

    2015-05-01

    Kennedy's disease, also known as bulbospinal muscular atrophy, is a rare, X-linked recessive neurodegenerative disorder affecting adult males. It is caused by expansion of an unstable cytosine-adenine-guanine tandem-repeat in exon 1 of the androgen-receptor gene on chromosome Xq11-12, and is characterized by spinal motor neuron progressive degeneration. Endocrinologically, these patients often have the features of hypogonadism associated to the androgen insensitivity syndrome, particularly its partial forms. We report 4 cases with the typical neurological presentation, consisting of slowly progressing generalized muscle weakness with atrophy and bulbar muscle involvement; these patients also had several endocrine manifestations; the most common non-neurological manifestation was gynecomastia. In all cases reported, molecular analysis showed an abnormal cytosine-adenine-guanine triplet repeat expansion in the androgen receptor gene. Copyright © 2014 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

  5. Gitelman's syndrome in pregnancy: case report and review of the literature.

    LENUS (Irish Health Repository)

    McCarthy, Fergus P

    2012-01-31

    Gitelman\\'s syndrome (GS), a rare renal disorder, results in hypokalaemia, hypomagnesaemia, hypocalciuria and a metabolic alkalosis. It is unclear if an alteration in management is necessary or beneficial during pregnancy. A 32-year-old woman with GS was managed in her second pregnancy. Antenatally, the patient required 39 (principally day case) admissions to the hospital for intravenous (IV) therapy and received a cumulative total of 47 l of IV 0.9% saline solution, 47 doses of 20 mmol magnesium chloride and 46 doses of 80 mmol potassium chloride. She delivered a 2940-g female infant in excellent condition by caesarean section. We would suggest that close attention to maternal weight gain during pregnancy is an easily available clinical tool to assess adequacy of fluid and electrolyte repletion in this condition.

  6. Purple urine bag syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    S Yaqub

    2013-01-01

    Full Text Available Purple urine bag syndrome (PUBS is an infrequent condition, seen mostly in elderly female patients, characterized by an intense purple discoloration of contents of urine bag following long-term indwelling urinary catheterization. The purple discoloration is most often due to the presence of indigo and indirubin pigments which are metabolites of tryptophan. Urinary bacteria with indoxyl sulphatase activity metabolize indoxyl sulphate to produce indigo and indirubin, particularly in alkaline urine. We report an elderly woman with a urinary tract infection and constipation who presented with PUBS. The purple urine disappeared after antibiotic therapy and change of the urine bag. To the best of our knowledge, this is the first case of PUBS reported from this region.

  7. Management of Hermansky-Pudlak syndrome in pregnancy and review of literature.

    Science.gov (United States)

    Van Avermaete, Freya; Muys, Joke; Jacquemyn, Yves

    2016-11-17

    We report on the obstetric outcome of a woman aged 27 years with Hermansky-Pudlak syndrome (HPS). She underwent a caesarean section after failed induction of labour. Platelet transfusion was administered in a set schedule for 36 hours, starting 2 hours before delivery. The child had good Apgar scores and there were no significant problems of prolonged bleeding during the procedure. 72 hours postpartum, a haematoma developed at the site of the wound, subsequently complicated by a secondary infection for which she received antibiotics. Wound care was provided in an outpatient setting during 2 weeks, in which the infection stabilised and responded to the treatment. Mother and child could leave the hospital after 6 days. 2016 BMJ Publishing Group Ltd.

  8. [Prenatal diagnosis of Meckel-Gruber syndrome. Case report and literature review].

    Science.gov (United States)

    Audifred-Salomón, J; Barrita-Domínguez I J; Ortiz, de Zárate-Alarcón; Sánchez-Hernández, H; Camacho-Cervantes, A

    2016-02-01

    Meckel-Gruber syndrome is a ciliopathy, a lethal autosomal recessive disorder that occurs in all races and ethnicities; it is characterized by central nervous system abnormalities, resulting in mental retardation, bilateral renal cystic dysplasia and malformations of hands and feet. To date there have been only about 200 cases reported worldwide. It is a disease with a recurrence rate of 25% whose most reliable method for diagnosis is prenatal ultrasound. The mortality rate is 100% and in view of the high index of recurrence, subsequent pregnancies should be investigated appropriately with genetic counseling. We present the case of a 15 years-old mother with 30.2 weeks pregnancy resulting from rape by consanguinity (grandfather), without prenatal care. On admission HD ultrasound study is performed finding fetus fetometria average 26.2 weeks (for discordant fetometria head circumference 187.5 mm to 21.0 weeks gestation -3DE-) lost in the skull shape of the shell line is observed winding mean; not cut down, cavum septum pellucidum or herniated sac cerebellum and occipital level (encephalocele) are evident. It starts cervical ripening with prostaglandins for 24 hours to conduct further labor with oxytocic and delivery care where a fetus death, female, 1516 g is obtained. Fetal autopsy family is authorized; however, it not has done because it is legal and only medical geneticist obtains medical case assessment. The Meckel-Gruber syndrome is a very rare condition that occurs in cases of consanguinity occasions. Mortality occurs in 100% of cases, so you should talk to parents and explain the best maternal prognosis, with abortion in the early stages and subsequent genetic counseling.

  9. Effectiveness of cognitive behavioral therapy in the treatment of fibromyalgia syndrome: a meta-analytic literature review Effectiveness of cognitive behavioral therapy in the treatment of fibromyalgia syndrome: a meta-analytic literature review

    Directory of Open Access Journals (Sweden)

    A. Minelli

    2012-07-01

    Full Text Available Fibromyalgia (FM is a chronic disorder caused by a dysfunction of central nervous system sensitization. This syndrome is characterized by widespread pain and diffuse tenderness, but often also presents fatigue, sleep disturbances, and a whole range of symptoms such as morning stiffness, decreased physical function and dyscognition. FM is usually treated with pharmacological and non-pharmacological treatments. The non-pharmacological interventions include cognitive behavioral therapy (CBT, physiotherapy, acupuncture and patient education programs. In order to evaluate the efficacy of CBT and compare it with other non-pharmacological treatments, we performed a review of the meta-analytic literature. We evaluated the methodological quality of publications found by following the recommendations of the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. Data showed that CBT does not provide better results than other non-pharmacological treatments on outcomes of pain, fatigue, sleep disturbance and quality of life, at either a short or long-term evaluation. On the contrary, CBT seems to be more effective on symptoms of depression for a short period, whereas it considerably improves the pain self-management and reduces the number of visits to the doctor. The data currently available indicate that cost-effectiveness studies could help us to understand whether the reduction in the number of visits to the doctor could balance the cost of CBT to the health public system.Fibromyalgia (FM is a chronic disorder caused by a dysfunction of central nervous system sensitization. This syndrome is characterized by widespread pain and diffuse tenderness, but often also presents fatigue, sleep disturbances, and a whole range of symptoms such as morning stiffness, decreased physical function and dyscognition. FM is usually treated with pharmacological and non-pharmacological treatments. The nonpharmacological interventions include

  10. May-Thurner Syndrome: A Case Report and Review of the Literature

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    Shivani Kalu

    2013-01-01

    Full Text Available May-Thurner syndrome (MTS has been recognized as a clinical entity for almost six decades. The true incidence rate of MTS is unknown and perhaps ranges from 22 to 32% according to the autopsy studies in the early twentieth century. However, MTS related deep venous thrombosis (DVT accounts for only 2%-3% of all lower limb DVTS. In MTS, the left common iliac vein is compressed against the fifth lumbar vertebrae by the right common iliac artery, as it crosses in front of the vein. Chronic pulsation of the artery is thought to cause elastin, collagen deposition, and intimal fibrosis leading to formation of venous spur and venous thrombosis. MTS can present as acute or chronic DVT leading to pulmonary embolism (PE, chronic leg pain, chronic ulcers, or skin pigmentation changes. In this case report we have described an interesting case of a 28-year-old Caucasian female who presented for evaluation of shortness of breath (SOB associated with cough for one week. SOB was found to be secondary to massive bilateral pulmonary embolism resulting from extensive MTS related DVT of the left lower extremity. Patient underwent pharmacomechanical treatment with local thrombolysis, thrombectomy, and venoplasty along with stent placement that extended to inferior vena caval junction. Subsequently patient was discharged on coumadin. MTS should be considered in differentials when faced with a case of unilateral DVT particularly in younger age group.

  11. Acute renal failure due to abdominal compartment syndrome: report on four cases and literature review

    Directory of Open Access Journals (Sweden)

    Cleva Roberto de

    2001-01-01

    Full Text Available We report on 4 cases of abdominal compartment syndrome complicated by acute renal failure that were promptly reversed by different abdominal decompression methods. Case 1: A 57-year-old obese woman in the post-operative period after giant incisional hernia correction with an intra-abdominal pressure of 24 mm Hg. She was sedated and curarized, and the intra-abdominal pressure fell to 15 mm Hg. Case 2: A 73-year-old woman with acute inflammatory abdomen was undergoing exploratory laparotomy when a hypertensive pneumoperitoneum was noticed. During the surgery, enhancement of urinary output was observed. Case 3: An 18-year-old man who underwent hepatectomy and developed coagulopathy and hepatic bleeding that required abdominal packing, developed oliguria with a transvesical intra-abdominal pressure of 22 mm Hg. During reoperation, the compresses were removed with a prompt improvement in urinary flow. Case 4: A 46-year-old man with hepatic cirrhosis was admitted after incisional hernia repair with intra-abdominal pressure of 16 mm Hg. After paracentesis, the intra-abdominal pressure fell to 11 mm Hg.

  12. Lennox gastaut syndrome, review of the literature and a case report

    Directory of Open Access Journals (Sweden)

    Abu Saleh Tareq

    2008-06-01

    Full Text Available Abstract Background Lennox-Gastaut syndrome (LGS is a severe form of childhood epilepsy that is defined by generalized multiple type seizures, slowness of intellectual growth, and a specific EEG disturbance. Children affected might previously have infantile spasms or underlying brain disorder but etiology can be idiopathic. In South Africa, the incidence of secondary epilepsy is higher than what is found in developed countries resulting in higher incidence of the disease. LGS seizures are often treatment resistant and the long term prognosis is poor. Report A twenty six year old female, presented with anterior open bite, macroglossia, supragingival as well as subgingival calculus. The gingiva was red, swollen and friable and there was generalized bleeding and localized suppuration. The patient had gingival recession. After periodontal therapy a remarkable improvement in oral health status was noted. Conclusion The clinical findings in LGS included facial deformities, periodontitis and gingival swellings. Interdisciplinary treatment of these patients is fundamental and oral attention is of outstanding importance. Non-surgical periodontal therapy was effective in controlling periodontal disease in the reported case, but prevention of periodontal and dental diseases is preferable for this high-risk group of patients.

  13. Severe somatoform and dysautonomic syndromes after HPV vaccination: case series and review of literature.

    Science.gov (United States)

    Palmieri, Beniamino; Poddighe, Dimitri; Vadalà, Maria; Laurino, Carmen; Carnovale, Carla; Clementi, Emilio

    2017-02-01

    Human papilloma virus (HPV) is recognized as a major cause for cervical cancer among women worldwide. Two HPV vaccines are currently available: Gardasil ® and Cervarix ® . Both vaccines enclose viral antigenic proteins, but differ as to the biological systems of culture and the adjuvant components. Recently, a collection of symptoms, indicating nervous system dysfunction, has been described after HPV vaccination. We retrospectively described a case series including 18 girls (aged 12-24 years) referred to our "Second Opinion Medical Network" for the evaluation of "neuropathy with autonomic dysfunction" after HPV vaccination. All girls complained of long-lasting and invalidating somatoform symptoms (including asthenia, headache, cognitive dysfunctions, myalgia, sinus tachycardia and skin rashes) that have developed 1-5 days (n = 11), 5-15 days (n = 5) and 15-20 days (n = 2) after the vaccination. These cases can be included in the recently described immune dysfunction named autoimmune/inflammatory syndrome induced by adjuvants (ASIA). HPV vaccine, through its adjuvant component, is speculated to induce an abnormal activation of the immune system, involving glia cells in the nervous system too. Further researches should aim at defining the pathological and clinical aspects of these post-vaccination diseases and identifying a genetic background predisposing to these adverse reactions.

  14. Vertical parasagittal hemispherotomy for Sturge-Weber syndrome in early infancy: case report and literature review.

    Science.gov (United States)

    Liu, Xiangyu; Otsuki, Taisuke; Takahashi, Akio; Kaido, Takanobu

    2016-01-01

    The authors here present a rare case of a 3-month-old infant with unilateral Sturge-Weber syndrome (SWS) who had excellent seizure control and no aggravation of previous existed neurological deficits after vertical parasagittal hemispherotomy (VPH). To our knowledge, this patient with SWS was the youngest one who received VPH. The use of VPH results in a successful treatment of intractable epilepsy in a patient with seizure onset in early infancy. At follow-up, the patient's neurodevelopmental status has been improved since the surgery. It is generally accepted that early-onset seizures in children with SWS are associated with worse neurological and developmental outcomes. However, when surgical treatment should be considered and how it should be performed remain a longstanding controversy. We promote early surgery in children with SWS and early-onset epilepsy. We suggest that VPH may be a useful adjuvant in the management of SWS with refractory epilepsy in early infancy and this procedure carries low neurological risk.

  15. Parry Romberg Syndrome: The Socially Appalling Yet Less Acknowledged Diagnosis: Case Series and Literature Review

    Directory of Open Access Journals (Sweden)

    Ali Zohair Nomani

    2018-01-01

    Full Text Available The dilemma of facing a facial cosmetic issue at a young age is the most troublesome symptom hampering social well-being. Beginning in the teen ages and progressing to variable extents, Parry Romberg Syndrome (PRS leads to facial asymmetry in the form of hemiatrophy secondary to loss of subcutaneous tissues, often fat but sometimes the underlying muscles and bones. It is indistinctly associated with seizure disorders at times or with other neurological sequelae. The first case was an 18 year old Pakistani male who presented with progressive wasting of the left side of the face for the past two and a half years. The second case was an 18-year-old Pakistani girl who presented to the neurology OPD with primary complaints of a seizure disorder for 3 years. In addition, she had progressive subtle asymmetry of her face. Over the course of time, a faint curvilinear grooved line showed up towards the right side of her forehead reaching on to her head up to the vertex. She also had hair loss ipsilateral to the line. The presentation of above cases depicts that although some features of PRS like facial asymmetry is characteristic, the presentation of a patient primarily with seizures should ideally include a thorough search for a secondary cause or of possible associations so that prognosis can be defined and appropriate interventions planned.

  16. Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature.

    Science.gov (United States)

    Azzolini, Sara; Nosadini, Margherita; Balzarin, Marta; Sartori, Stefano; Suppiej, Agnese; Mardari, Rodica; Greggio, Nella Augusta; Toldo, Irene

    2014-09-01

    Allan-Herndon-Dudley syndrome is an X-linked condition caused by mutations of the monocarboxylate transporter 8 gene. This syndrome is characterized by axial hypotonia, severe mental retardation, dysarthria, athetoid movements, spastic paraplegia, and a typical thyroid hormone profile. In most of the cases reported so far, brain magnetic resonance imaging showed delayed myelination of the central white matter and this finding greatly affects the diagnosis of the syndrome. We present a new case studied with magnetic resonance imaging and spectroscopy and we reviewed all the articles published between 2004 and 2012 containing information on brain neuroimaging in this syndrome. An Italian boy, showing a classical phenotype of the syndrome, was diagnosed at 17months of age. Genetic analysis revealed a new frameshift mutation of the monocarboxylate transporter 8 gene. His brain magnetic resonance imaging and spectroscopy, performed at the age of 14months, were normal. Among the 33 cases reported in the literature, 3 cases had normal neuroimaging and in 7 of 14 cases, having a longitudinal follow-up, the initial finding of delayed myelination gradually improved. Our case and the review of the pertinent literature suggest that Allan-Herndon-Dudley syndrome should be suspected in males with the typical neurological and thyroid profile, even in cases with normal brain myelination. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  17. Visual phenomenon as part of the migraine syndrome.Literature review

    Directory of Open Access Journals (Sweden)

    Carolina Serrano Calderón

    2004-12-01

    Full Text Available Among the multiple symptoms, usuallyaccompaning , the migraine episodes, there are the visualsymptoms, which account for the highest incidence. Thesesymptoms may or may no be accompanied by headache.These symptoms can be located into a specifi c migrainesyndrome, such as “ migraine with aura”, “aura without migraine”,,“retinal migraine” and the “ophthalmoplegic migraine”.Inthis article we provide a topic review, as well as the diagnostic criteria and the management of this entity.

  18. RUFINAMIDE (INOVELON IN THE TREATMENT OF LENNOX–GASTAUT SYNDROME (A REVIEW OF LITERATURE AND CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin

    2015-01-01

    Full Text Available Lennox–Gastaut syndrome (LGS is childhood-onset epileptic encephalopathy manifested by frequent polymorphic seizures, including tonic axial, obvious cognitive impairments, characteristic ECG changes, and therapeutic resistance. Due to the concurrence of several types of seizures in the clinical presentation of the disease and their resistance to drug therapy, great hopes are pinned on the design of novel antiepileptic drugs with fundamentally other mechanisms of action and aimed specially at treating this severe type of epilepsy. The authors review the foreign literature on the new antiepileptic drug rufinamide (Inovelon registered in Russia in January 2015 to directly treat LGS as adjunctive treatment in children 4 years and older and adults. Multiple trials have demonstrated that rufinamide has efficacy and good tolerability in treating LGS.The authors describe an observed case of the efficacy of rufinamide in a 17-year-old male patient with LGS. Despite the drug resistance of epilepsy and no response to multiple antiepileptic drugs used alone and in different combinations, the incorporation of rufinamide into a treatment regimen had a pronounced therapeutic effect: the frequency of convulsive seizures decreased by 70 %. At the time of writing this paper, the patient has been receiving rufinamide for more 5 months. He has been tolerating the therapy well.

  19. Rapid Death Due to Alcohol Withdrawal Syndrome: Case Report and Review of Literature

    Directory of Open Access Journals (Sweden)

    Rahul Mohanrao Band

    2015-03-01

    Full Text Available Background: Alcohol withdrawal syndrome (AWS is one of the most serious complications associated with chronic alcoholism. Sudden deaths are not uncommon in AWS. In severe stages of AWS, delirium tremens (DT occurs, which is characterized with agitation, global confusion, disorientation, visual and auditory hallucinations in addition to autonomic hyperactivity. Case report: A 30-year old man, chronic and heavy alcohol drinker for 10 years, abstained from alcohol for 3 days. Consequently, he started having palpitations, sweating and tremors. A day later, he was found having hallucinations and delirium. The patient was immediately transferred to the hospital. On admission, he was stuporous and had difficulty in breathing. He developed generalized seizures later on. He was successfully intubated, but there was bleeding through it. The patient’s condition deteriorated very rapidly and he died within two hours. After death, his body was transferred to forensic department. In autopsy, gastrointestinal tract was found to be intact. Massive pulmonary hemorrhage was present on cut section. Liver was found to be with yellowish discoloration and early cirrhotic changes. In heart, left ventricular hypertrophy with narrowed lumen was present and coronary arteries were patent. Discussion: Alcoholism is associated with liver dysfunction and especially in final phases with cirrhosis. Hence and due to resultant coagulopathy, patients are vulnerable to internal bleedings. Hypertrophic cardiomyopathy also occurs in chronic alcoholics. Therefore, we can speculate that our patient developed pulmonary hemorrhage as a result of combined effect of coagulopathy secondary to cirrhosis, alveolar damage (seizure and artificial ventilation and congestive heart failure. Conclusion: For a patient with delirium, convulsions, respiratory distress and coagulopathy, diagnosis of DT should be kept in mind.

  20. Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

    Science.gov (United States)

    Pittaway, James F H; Harrison, Christopher; Rhee, Yumie; Holder-Espinasse, Muriel; Fryer, Alan E; Cundy, Tim; Drake, William M; Irving, Melita D

    2018-04-04

    Hajdu-Cheney syndrome (HCS) (#OMIM 102500) is a rare, autosomal dominant condition that presents in early childhood. It is caused by mutations in the terminal exon of NOTCH2, which encodes the transmembrane NOTCH2 receptor. This pathway is involved in the coupled processes of bone formation and resorption. The skeletal features of HCS include acro-osteolysis of the digits and osteoporosis commonly affecting vertebrae and long bones. Fractures are a prominent feature and are associated with significant morbidity. There is no specific treatment, but with both acro-osteolysis and generalized osteoporosis, it is possible that anti-resorptive treatment might be of benefit. However, to date only a few case reports have evaluated the effectiveness of bisphosphonate treatment. We describe the clinical features, treatment regimens and response to bisphosphonate treatment in 7 newly described patients aged 6-39 with HCS, and pooled the data with that from 8 previously published cases (a total of 17 courses of treatment in 15 individuals). The mean lumbar spine bone mineral density (BMD) z-score before treatment was - 2.9 (SD 1.2). In 14 courses of treatment (82%), there was an increase in BMD with bisphosphonate treatment, but the impact (in terms of change in spinal BMD z-score) appeared to be less with advancing age (p = 0.01). There was no evidence that acro-osteolysis was prevented. Although individual response is variable and age-related, the data support a role for bisphosphonates in preventing or treating spinal osteoporosis in HCS, but bone loss from the lumbar spine may be rapid after cessation.

  1. Sjögren's syndrome complicated by interstitial cystitis: A case series and literature review.

    Science.gov (United States)

    Darrieutort-Laffite, Christelle; André, Vincent; Hayem, Gilles; Saraux, Alain; Le Guern, Véronique; Le Jeunne, Claire; Puéchal, Xavier

    2015-07-01

    To characterize the interstitial cystitis (IC) associated with Sjögren's syndrome (SS). Report of three new cases. Only cases fulfilling the American-European consensus criteria for SS and the European Society for the Study of Interstitial Cystitis criteria with positive histological findings for IC were included. Thirteen cases of SS and IC have been reported in women, including the three reported here, with a mean age of 54 years. SS appeared first in 77% (n=10) of cases, a mean of 6.6 years before IC. The symptoms of IC included pollakiuria (n=11), lower abdominal pain (n=8), urinary urgency (n=5), painful micturition (n=6), hematuria (n=3) and dysuria (n=3). Urinary dilatation occurred in three cases, leading to acute renal failure in two patients. The diagnosis of IC was confirmed by anatomical evidence of cystitis inflammation on bladder biopsy in all (n=13) patients. Treatment was reported for nine patients, seven of whom (78%) received corticosteroid treatment, which was partially or completely effective in six cases. Immunosuppressive treatment was added in three cases (cyclosporine, n=2; azathioprine, n=1; cyclophosphamide, n=1). Local bladder treatments were performed, with hydraulic distension in five cases and DMSO instillation in one patient. A urinary catheter was inserted in the two cases of acute obstructive renal failure. Urinary symptoms without infection should lead the physician to consider a diagnosis of IC in SS patients. Urinary dilatation may occur, leading to acute obstructive renal failure. Corticosteroid treatment may be effective and local treatments have been tried. Copyright © 2015 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  2. Appendix A : literature review.

    Science.gov (United States)

    2013-03-01

    This appendix contains a review of the literature and other background information : germane to the experimental and analytical research presented in subsequent appendices. Table : 1 lists the sections and topics contained in this appendix and those ...

  3. Systematic literature review

    DEFF Research Database (Denmark)

    Barnard, K. D.; Lloyd, C. E.; Skinner, T. C.

    2007-01-01

    Aim: To review systematically the published literature addressing whether continuous subcutaneous insulin infusion (CSII) provides any quality of life benefits to people with Type 1 diabetes. Methods: Electronic databases and published references were searched and a consultation with two professi...

  4. [Cauda equina syndrome secondary to neurolymphomatosis: Case report and literature review].

    Science.gov (United States)

    Jiménez Zapata, Herbert Daniel; Rojas Medina, Luis Mariano; Carrasco Moro, Rodrigo; Martínez Rodrigo, Aurora; García-Cosio Piqueras, Mónica

    2017-09-20

    Neurolymphomatosis is a rare disorder characterised by infiltration of neoplastic lymphocytes into the peripheral nervous system. A wide variety of symptoms can manifest depending on its nature and location, making its diagnosis a real challenge. Treatment is based on methotrexate, although various chemotherapy regimens are currently available for patients with systemic disease. We present the case of a male patient with neurolymphomatosis of the cauda equina, together with a review of all cases published to date. Copyright © 2017 Sociedad Española de Neurocirugía. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. MRI in the liquor hypotension syndrome: a case report and review of literature

    International Nuclear Information System (INIS)

    Costa Machado Junior, Marcos Alberto da; Barbosa, Veronica Aline Oliveira; Taglietti, Isabella; D'Almeida Filho, Fernando.

    1996-01-01

    The case of a man is presented, who suddenly suffered headaches, with no other neurological disorder or clinical symptom, that partially remitted only in horizontal decubitus. The magnetic resonance imaging (MRI) investigation showed isointense dural thickening or detachment of the convexity in T1, that was hyperintense in T2. After contrast medium i.v. injection, MRI images showed diffuse and marked dural enhancement of the convexity, along the tentorium, at the base, in the upper cervix. Liquor hypotension, accompanied by dural thickening and enhancement visible by MRI have been reported in the literature. In this case, no loss of cerebrospinal fluid was identified as a possible cause for its reduced pressure. Within the frame work of essential liquor hypotension, the authors underline the postural nature of headaches, and hypothesizes the dural alterations are the expression of traction inducing tears in the dural border cell layer with consequent blood extravasation. The correlation of the radiological aspects with these alterations and their changes are discussed. (author). 11 refs., 2 figs

  6. Heart rate variability measurement and clinical depression in acute coronary syndrome patients: narrative review of recent literature

    Directory of Open Access Journals (Sweden)

    Harris PR

    2014-07-01

    Full Text Available Patricia RE Harris,1 Claire E Sommargren,2 Phyllis K Stein,3 Gordon L Fung,4,5 Barbara J Drew6,7 1ECG Monitoring Research Lab, 2Department of Physiological Nursing, School of Nursing, University of California, San Francisco, CA, USA; 3Heart Rate Variability Laboratory, School of Medicine, Washington University, St Louis, MO, USA; 4Asian Heart & Vascular Center at Mount Zion, Division of Cardiology, University of California, 5Cardiology Consultation Service, Cardiac Noninvasive Laboratory, and The Enhanced External Counterpulsation Unit, Department of Medicine, University of California, San Francisco Medical Center, 6Division of Cardiology, 7Department of Physiological Nursing, School of Nursing, University of California, San Francisco, CA, USA Aim: We aimed to explore links between heart rate variability (HRV and clinical depression in patients with acute coronary syndrome (ACS, through a review of recent clinical research literature. Background: Patients with ACS are at risk for both cardiac autonomic dysfunction and clinical depression. Both conditions can negatively impact the ability to recover from an acute physiological insult, such as unstable angina or myocardial infarction, increasing the risk for adverse cardiovascular outcomes. HRV is recognized as a reflection of autonomic function. Methods: A narrative review was undertaken to evaluate state-of-the-art clinical research, using the PubMed database, January 2013. The search terms “heart rate variability” and “depression” were used in conjunction with “acute coronary syndrome”, “unstable angina”, or “myocardial infarction” to find clinical studies published within the past 10 years related to HRV and clinical depression, in patients with an ACS episode. Studies were included if HRV measurement and depression screening were undertaken during an ACS hospitalization or within 2 months of hospital discharge. Results: Nine clinical studies met the inclusion criteria. The

  7. WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.

    Science.gov (United States)

    Yu, Guang; Yu, Man-li; Wang, Jia-feng; Gao, Cong-rong; Chen, Zhong-jin

    2010-10-01

    Wolfram syndrome is a rare hereditary disease characterized by diabetes mellitus and optic atrophy. The outcome of this disease is always poor. WFS1 gene mutation is the main cause of this disease. A patient with diabetes mellitus, diabetes insipidus, renal tract disorder, psychiatric abnormality, and cataract was diagnosed with Wolfram syndrome. Mutations in open reading frame (ORF) of WFS1 gene was analyzed by sequencing. Mutations in WFS1 gene was also summarized by a systematic review in Pubmed and Chinese biological and medical database. Sequencing of WFS1 gene in this patient showed a new mutation, 1962G>A, and two other non-sense mutations, 2433A>G and 2565G>A. Systematic review included 219 patients in total and identified 172 WFS1 gene mutations, most of which were located in Exon 8. These mutations in WFS1 gene might be useful in prenatal diagnosis of Wolfram syndrome.

  8. Pituitary stalk transection syndrome: Comparison of clinico-radiological features in adults and children with review of literature

    International Nuclear Information System (INIS)

    Kulkarni, Chinmay; Moorthy, Srikanth; Pullara, Sreekumar K; Rajeshkannan, R; Unnikrishnan, Ambika G

    2012-01-01

    Hypo-pituitarism results from impaired production of one or more of anterior pituitary trophic hormones. A rare cause of hypo-pituitarism is pituitary stalk transection syndrome. The MRI features of this condition in children and its association with hormonal deficiencies have been reported earlier. Reports on adults with this disorder are scarce, with only one small case series published in the recent literature. We studied the hormonal deficiency pattern and MRI findings of 12 patients with pituitary stalk transection syndrome who presented to our department between 2004 and 2011. Six patients were children and six were adults (≥18 years). This article compares the adult clinico-radiological phenotype of pituitary transection syndrome with the pediatric group of patients with same condition

  9. Early extracorporeal life support as rescue for Wegener granulomatosis with diffuse alveolar hemorrhage and acute respiratory distress syndrome: a case report and literature review.

    Science.gov (United States)

    Joseph, Mark; Charles, Anthony G

    2011-12-01

    The study's objective was to report a case and review the literature on the use of extracorporeal life support in the face of severe pulmonary hemorrhage for acute respiratory distress syndrome. This study is a single case report of a pediatric patient who was successfully managed on venovenous extracorporeal life support for severe acute respiratory distress syndrome with acute pulmonary hemorrhage secondary to Wegener disease. Extracorporeal life support can be used successfully in selected patients with respiratory failure with pulmonary hemorrhage. The cautious use of anticoagulation should be balanced with the risk of bleeding, mindful of the need for other measures to mitigate severe bleeding if this should occur.

  10. Peritoneal dialysis: A factor of risk or protection for posterior reversible encephalopathy syndrome? Review of the literature

    Directory of Open Access Journals (Sweden)

    Mercedes Moreiras-Plaza

    2018-03-01

    Full Text Available Posterior reversible encephalopathy syndrome is a clinical and radiological entity with acute or subacute neurological presentation associated with brain lesions that primarily affect the white matter of the posterior regions. It is often associated with the rapid onset of severe hypertension and/or with kidney failure (acute and chronic, but it has also been reported as a neurological complication in several medical conditions. In recent years, there has been an increase in the number of cases and related publications due to the advance of diagnostic imaging techniques. The characteristic radiological finding includes hyperintense lesions in T2- and FLAIR-weighted magnetic resonance imaging, which are often bilateral and located in the posterior cerebral regions and correspond to areas of vasogenic oedema.Little is known about the pathophysiology of posterior reversible encephalopathy syndrome. The most accepted theory, especially in cases with associated hypertension, is the loss of cerebral self-regulation which leads to the onset of vasogenic oedema. The main feature of this syndrome is the reversibility of both symptoms and cerebral lesions with an early and appropriate diagnosis.Despite the frequent association with kidney failure and severe hypertension, there are few cases reported in patients on peritoneal dialysis. This article presents a review of PRES in peritoneal dialysis patients in the published literature. Resumen: El síndrome de encefalopatía posterior reversible es una entidad clínico-radiológica con presentación neurológica aguda o subaguda, asociada a la presencia de lesiones que afectan sobre todo a la sustancia blanca de las regiones cerebrales posteriores. Se asocia principalmente con hipertensión severa de rápido desarrollo, o con insuficiencia renal (aguda o crónica, aunque se ha descrito también como una complicación neurológica de varias entidades médicas. En los últimos años se está produciendo un

  11. A Review of the Literature on Large Vestibular Aqueduct Syndrome for Teachers of the Deaf and Hard of Hearing.

    Science.gov (United States)

    Vause, Kellie; Beattie, R. G.

    1997-01-01

    This review describes the history, clinical features, methods of diagnosis, and treatment of (1) large vestibular aqueduct syndrome (LVAS), a condition involving congenital hearing loss that is purely sensorineural or mixed in nature, and (2) progressive stepwise hearing losses following minor head trauma. Emphasis is on prevention of further…

  12. Recurrent twin-twin transfusion syndrome after selective fetoscopic laser photocoagulation: a systematic review of the literature.

    LENUS (Irish Health Repository)

    Walsh, C A

    2012-11-01

    Selective fetoscopic laser photocoagulation (SFLP) is now the treatment of choice for twin-twin transfusion syndrome (TTTS). The incidence of recurrent TTTS following SFLP has been inconsistently reported across different studies. We performed a systematic review of TTTS recurrence following SFLP.

  13. Concurrency of Guillain-Barre syndrome and acute transverse myelitis: a case report and review of literature

    OpenAIRE

    Tolunay, Orkun; ?elik, Tamer; ?elik, ?mit; K?m?r, Mustafa; Tanyeli, Zeynep; S?nmezler, Abdurrahman

    2016-01-01

    Guillain-Barr? syndrome and acute transverse myelitis manifest as demyelinating diseases of the peripheral and central nervous system. Concurrency of these two disorders is rarely documented in literature. A 4-year-old girl presenting with cough, fever, and an impaired walking ability was admitted to hospital. She had no previous complaints in her medical history. A physical examination revealed lack of muscle strength of the lower extremities and deep tendon reflexes. MRI could not be carrie...

  14. Late-onset cytomegalovirus infection complicated by Guillain-Barre syndrome in a kidney transplant recipient: case report and review of the literature.

    Science.gov (United States)

    Shaban, E; Gohh, R; Knoll, B M

    2016-04-01

    Cytomegalovirus (CMV) infection remains a common infection after solid-organ transplantation. In the general population CMV disease is associated with Guillain-Barre syndrome (GBS), an autoimmune disease leading to an acute peripheral neuropathy, in 1 of 1000 cases. Interestingly, GBS is a rarely observed complication in solid-organ transplant recipients, possibly related to maintenance immunosuppression. We describe a case of CMV infection complicated by GBS in a kidney transplant recipient and review the literature.

  15. Collet-Sicard Syndrome from Thrombosis of the Sigmoid-Jugular Complex: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Tom P. B. Handley

    2010-01-01

    Full Text Available Purpose. Collet-Sicard syndrome is a very rare condition characterised by unilateral palsy of the IX–XII cranial nerves. It is distinguished from Villaret syndrome by lack of presence of sympathetic involvement. Current literature contains only two cases of Collet-Sicard syndrome due to idiopathic internal jugular vein thrombosis. Method and Results. We report the case of Collet-Sicard syndrome in a 30-year-old man who presented with delayed development of XIth nerve dysfunction, due to internal jugular vein-sigmoid sinus thrombosis. A multidisciplinary team approach was employed in the management of this patient. At three-month followup, he had significantly improved swallowing, and repeat computed tomography neck scan showed partial recanalisation of the right internal jugular vein. Conclusion. In suspected Collet-Sicard syndrome, a focal primary lesion or metastasis to the temporal bone must be excluded, and sigmoid-jugular complex thrombosis should be considered in the differential diagnosis. Early recognition and treatment may result in significant functional recovery.

  16. Collet-Sicard Syndrome from Thrombosis of the Sigmoid-Jugular Complex: A Case Report and Review of the Literature

    Science.gov (United States)

    Handley, Tom P. B.; Miah, Mohammed S.; Majumdar, Samit; Hussain, S. S. Musheer

    2010-01-01

    Purpose. Collet-Sicard syndrome is a very rare condition characterised by unilateral palsy of the IX–XII cranial nerves. It is distinguished from Villaret syndrome by lack of presence of sympathetic involvement. Current literature contains only two cases of Collet-Sicard syndrome due to idiopathic internal jugular vein thrombosis. Method and Results. We report the case of Collet-Sicard syndrome in a 30-year-old man who presented with delayed development of XIth nerve dysfunction, due to internal jugular vein-sigmoid sinus thrombosis. A multidisciplinary team approach was employed in the management of this patient. At three-month followup, he had significantly improved swallowing, and repeat computed tomography neck scan showed partial recanalisation of the right internal jugular vein. Conclusion. In suspected Collet-Sicard syndrome, a focal primary lesion or metastasis to the temporal bone must be excluded, and sigmoid-jugular complex thrombosis should be considered in the differential diagnosis. Early recognition and treatment may result in significant functional recovery. PMID:20706543

  17. Volumetric Brain Morphometry Changes in patients with Obstructive Sleep Apnea Syndrome : effects of CPAP treatment and literature review.

    Directory of Open Access Journals (Sweden)

    Nelly T Huynh

    2014-04-01

    Full Text Available Introduction: Obstructive sleep apnea syndrome (OSAS is a frequent breathing disorder occurring during sleep that is characterized by recurrent hypoxic episodes and sleep fragmentation. It remains unclear whether OSAS leads to structural brain changes, and if so, in which brain regions. Brain region-specific gray and white matter volume (GMV and WMV changes can be measured with voxel-based morphometry (VBM. The aims of this study were to use VBM to analyze GMV and WMV in untreated OSAS patients compared to healthy controls (HC; examine the impact of OSAS-related variables (nocturnal hypoxemia duration and sleep fragmentation index on GMV and WMV; and assess the effects of therapeutic versus sham continuous positive airway pressure (CPAP. We discuss our results in light of previous findings and provide a comprehensive literature review. Methods: Twenty-seven treatment-naïve male patients with moderate to severe OSAS and seven healthy age- and education-matched control subjects (HC were recruited. After a baseline fMRI scan, patients randomly received either active (therapeutic, n=14 or sham (subtherapeutic, n=13 nasal CPAP treatment for 2 months. Results: Significant negative correlations were observed between nocturnal hypoxemia duration and GMV in bilateral lateral temporal regions. No differences in GMV or WMV were found between OSAS patients and HC, and no differences between CPAP versus sham CPAP treatment effects in OSAS patients. Conclusion: It appears that considering VBM GMV changes there is little difference between OSAS patients and HC. The largest VBM study to date indicates structural changes in the lateral aspect of the temporal lobe, which also showed a significant negative correlation with nocturnal hypoxemia duration in our study. This finding suggests an association between the effect of nocturnal hypoxemia and decreased GMV in OSAS patients.

  18. Growing Teratoma Syndrome After Treatment of a Nonseminomatous Germ Cell Tumor: A Case Report and a Review of Literature

    Directory of Open Access Journals (Sweden)

    W. Boukettaya

    2014-01-01

    Full Text Available Growing teratoma syndrome is a rare condition among patients with nonseminomatous germ cell tumors who present with enlarging metastatic masses during appropriate systemic chemotherapy and normalized serum markers. Retroperitoneal residual masses are a common finding after chemotherapy for the nonseminomatous tumors of the testis. These might contain mature teratoma, fibrotic tissue, or tumor. Mature teratoma, which is unresponsive to chemotherapy, might result from evolution of a malignant lesion during treatment or it might represent a metastasis from a focus of mature teratoma in the primary testicular tumor. This article reviews a case of a growing teratoma syndrome.

  19. Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.

    Science.gov (United States)

    Schell-Apacik, Chayim; Hardt, Michael; Ertl-Wagner, Birgit; Klopocki, Eva; Möhrenschlager, Matthias; Heinrich, Uwe; von Voss, Hubertus

    2008-09-01

    Alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome; OMIM 203550) is a very rare genetic disorder with distinct features. To our knowledge, there have been four cases documented to date. In addition, another three patients, previously described as having IFAP syndrome (OMIM %308205), may also have ACD syndrome. We report on one patient with short stature, total alopecia, ichthyosis, photophobia, seizures, ectrodactyly, vertebral anomalies, scoliosis, multiple contractures, mental retardation, and striking facial and other features (e.g. microdolichocephaly, missing eyebrows and eyelashes, long nose, large ears) consistent with ACD syndrome. Results of laboratory testing in the literature case reports were normal, although in none of them, array-CGH (microarray-based comparative genomic hybridization) analysis was performed. In conclusion, the combination of specific features, including total alopecia, ichthyosis, mental retardation, and skeletal anomalies are suggestive of ACD syndrome. We propose that children with this syndrome undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investigation, psychological testing, management of dermatologic and orthopedic problems, and genetic counseling.

  20. Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

    Directory of Open Access Journals (Sweden)

    Eiklid Kristin L

    2011-08-01

    Full Text Available Abstract Background Rett syndrome (RTT is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10% of the RTT cases have a C-terminal frameshift deletion in MECP2. Only few RTT families with a segregating MECP2 mutation, which affects female carriers with a phenotype of mental retardation or RTT, have been reported in the literature. In this study we describe two new RTT families with three and four individuals, respectively, and review the literature comparing the type of mutations and phenotypes observed in RTT families with those observed in sporadic cases. Based on these observations we also investigated origin of mutation segregation to further improve genetic counselling. Methods MECP2 mutations were identified by direct sequencing. XCI studies were performed using the X-linked androgen receptor (AR locus. The parental origin of de novo MECP2 frameshift mutations was investigated using intronic SNPs. Results In both families a C-terminal frameshift mutation segregates. Clinical features of the mutation carriers vary from classical RTT to mild mental retardation. XCI profiles of the female carriers correlate to their respective geno-/phenotypes. The majority of the de novo frameshift mutations occur on the paternally derived X chromosome (7/9 cases, without a paternal age effect. Conclusions The present study suggests a correlation between the intrafamilial phenotypic differences observed in RTT families and their respective XCI pattern in blood, in contrast to sporadic RTT cases where a similar correlation has not been demonstrated. Furthermore, we found de novo MECP2 frameshift mutations frequently to be of paternal origin, although not with the same high paternal occurrence as in sporadic cases with C to T

  1. Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

    Science.gov (United States)

    2011-01-01

    Background Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10% of the RTT cases have a C-terminal frameshift deletion in MECP2. Only few RTT families with a segregating MECP2 mutation, which affects female carriers with a phenotype of mental retardation or RTT, have been reported in the literature. In this study we describe two new RTT families with three and four individuals, respectively, and review the literature comparing the type of mutations and phenotypes observed in RTT families with those observed in sporadic cases. Based on these observations we also investigated origin of mutation segregation to further improve genetic counselling. Methods MECP2 mutations were identified by direct sequencing. XCI studies were performed using the X-linked androgen receptor (AR) locus. The parental origin of de novo MECP2 frameshift mutations was investigated using intronic SNPs. Results In both families a C-terminal frameshift mutation segregates. Clinical features of the mutation carriers vary from classical RTT to mild mental retardation. XCI profiles of the female carriers correlate to their respective geno-/phenotypes. The majority of the de novo frameshift mutations occur on the paternally derived X chromosome (7/9 cases), without a paternal age effect. Conclusions The present study suggests a correlation between the intrafamilial phenotypic differences observed in RTT families and their respective XCI pattern in blood, in contrast to sporadic RTT cases where a similar correlation has not been demonstrated. Furthermore, we found de novo MECP2 frameshift mutations frequently to be of paternal origin, although not with the same high paternal occurrence as in sporadic cases with C to T transitions. This suggests

  2. Adrenal suppression and Cushing's syndrome secondary to an interaction between ritonavir and fluticasone: a review of the literature.

    Science.gov (United States)

    Foisy, M M; Yakiwchuk, E M K; Chiu, I; Singh, A E

    2008-07-01

    The purpose of this article is to provide a systematic overview of the literature on adrenal suppression and Cushing's syndrome secondary to an interaction between inhaled/intranasal fluticasone and ritonavir. The clinical presentation, diagnosis and management will be discussed. A literature search using Medline and EMBASE and a search of abstracts of the three previous years of major HIV-related conferences were carried out. There were 25 cases (15 adult and 10 paediatric) of significant adrenal suppression secondary to an interaction between ritonavir and inhaled fluticasone, and three cases involving ritonavir and intranasal fluticasone. Cases with other steroids were not reported; however, there were cases of adrenal suppression with itraconazole [also a potent cytochrome p (CYP) 3A4 inhibitor] and inhaled budesonide. Clinicians need to differentiate between antiretroviral-induced lipodystrophy syndrome and iatrogenic Cushing's syndrome secondary to glucocorticoid use. Long-term fluticasone and ritonavir should be avoided. If ritonavir is required, another inhaled steroid such as low-dose budesonide or beclomethasone can be used cautiously. Upon discontinuation of inhaled corticosteroids, close monitoring for symptoms of adrenal insufficiency is warranted. The need for steroid replacement therapy at physiological doses should be assessed. The combination of ritonavir and fluticasone should be avoided. Budesonide, beclomethasone, triamcinolone and flunisolide appear to be safer options.

  3. Specific or general exercise strategy for subacromial impingement syndrome-does it matter? A systematic literature review and meta analysis.

    Science.gov (United States)

    Shire, Alison R; Stæhr, Thor A B; Overby, Jesper B; Bastholm Dahl, Mathias; Sandell Jacobsen, Julie; Høyrup Christiansen, David

    2017-04-17

    Exercise is frequently suggested as a treatment option for patients presenting with symptoms of subacromial impingement syndrome. Some would argue implementing a specific exercise strategy with special focus on correction of kinematic deficits would be superior to general exercise strategy. There is however a lack of evidence comparing such exercise strategies to determine which is the most effective in the treatment of subacromial impingement syndrome. The aim of this review is to evaluate whether implementing specific exercise strategies involving resistive exercises are more effective than a general exercise strategy for the treatment of patients with subacromial impingement syndrome. Randomized controlled trials were identified through an electronic search on PubMed/MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, Web of Science and PEDro. In addition, article reference lists and Clinicaltrials.gov were searched. Studies were considered eligible if they included interventions with resistive specific exercises as compared to general resistance exercise. Four reviewers assessed risk of bias and methodological quality guided by Cochrane recommendations. Results were synthesised qualitatively or quantitatively, where appropriate. Six randomized controlled trials were included with 231 participants who experienced symptoms of subacromial impingement syndrome. Four studies evaluated the effectiveness of specific scapular exercise strategy and two studies evaluated the effectiveness of specific proprioceptive strategy. Five studies were of moderate quality and one study was of low quality. No consistent statistical significant differences in outcomes between treatment groups were reported in the studies. Standardized mean difference (SMD) for pain was SMD -0.19 (95% CI -0.61, 0.22) and SMD 0.30 (95% CI -0.16, 0.76) for function. There is insufficient evidence to support or refute the effectiveness of specific resistive exercise strategies in the

  4. Homework. Literature Review

    Science.gov (United States)

    Blazer, Christie

    2009-01-01

    Although homework is assigned for a variety of academic and non-academic purposes, there is disagreement within the educational community about the value of homework and the amount of homework students should be assigned. This Literature Review summarizes the benefits and drawbacks of homework and examines how much time students should and…

  5. a literature review

    African Journals Online (AJOL)

    user

    Dr Nicholas Z Kakava. School of Business Sciences & Management. Chinhoyi University of Technology. Zimbabwe. Waiting as a determinant of store image and customer satisfaction: A literature review. 99 ... jective experience and the associated frustration is not necessarily related to an objective meas- urement of time.

  6. Concurrency of Guillain-Barre syndrome and acute transverse myelitis: a case report and review of literature.

    Science.gov (United States)

    Tolunay, Orkun; Çelik, Tamer; Çelik, Ümit; Kömür, Mustafa; Tanyeli, Zeynep; Sönmezler, Abdurrahman

    2016-11-01

    Guillain-Barré syndrome and acute transverse myelitis manifest as demyelinating diseases of the peripheral and central nervous system. Concurrency of these two disorders is rarely documented in literature. A 4-year-old girl presenting with cough, fever, and an impaired walking ability was admitted to hospital. She had no previous complaints in her medical history. A physical examination revealed lack of muscle strength of the lower extremities and deep tendon reflexes. MRI could not be carried out due to technical problems; therefore, both Guillain-Barré syndrome and acute transverse myelitis were considered for the diagnosis. Intravenous immunoglobulin treatment was started as first line therapy. Because this treatment did not relieve the patient's symptoms, spinal MRI was carried out on the fourth day of admission and demyelinating areas were identified. Based on the new findings, the patient was diagnosed with acute transverse myelitis, and high dose intravenous methylprednisolone therapy was started. Electromyography findings were consistent with acute polyneuropathy affecting both motor and sensory fibers. Therefore, the patient was diagnosed with concurrency of Guillain-Barré syndrome and acute transverse myelitis. Interestingly, while concurrency of these 2 disorders is rare, this association has been demonstrated in various recent publications. Progress in diagnostic tests (magnetic resonance imaging and electrophysiological examination studies) has enabled clinicians to establish the right diagnosis. The possibility of concurrent Guillain-Barré syndrome and acute transverse myelitis should be considered if recovery takes longer than anticipated.

  7. Multiple bilateral supernumerary mandibular premolars in a non-syndromic patient with associated orthokeratised odontogenic cyst- A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Vikrant O Kasat

    2012-01-01

    Full Text Available Multiple supernumerary teeth are very rare, accounting for less than 1% of cases. They are commonly associated with syndromes like Gardner′s syndrome and cleidocranial dysostosis and cleft lip and palate. Non-syndromic multiple supernumerary teeth have a predilection to occur in the mandibular premolar region. Orthokeratinized odontogenic cyst (OOC is a relatively uncommon developmental cyst comprising about 10% of the cases that had been previously implied as odontogenic keratocysts. More than half of the cases of OOC are associated with impacted tooth; but not a single case of OOC associated with supernumerary teeth is reported. Hence, the purpose of this article is to report the first case of multiple supernumerary mandibular premolars associated with OOC in a 35-year-old male and to review the literature associated with multiple bilateral supernumerary mandibular premolars.

  8. Asherman's syndrome: a review of the literature, and a husband and wife's 20-year world-wide experience.

    Science.gov (United States)

    Chapman, K; Chapman, R

    1990-01-01

    Asherman's syndrome is reviewed, and 27 cases treated by us in Iran, England, New Zealand and Australia over a 20-year period are analysed. Aetiological factors and treatment are discussed. In view of the high incidence of complications in subsequent pregnancies, the need for prevention is stressed. Although more common in some countries, it is, nevertheless, of world-wide distribution and, unless looked for, will be missed. Images Figure 1. Figure 2. Figure 3. Figure 4. Figure 5. Figure 6. PMID:2213808

  9. Kindler Syndrome and Periodontal Disease: Review of the Literature and a 12-Year Follow-Up Case

    Science.gov (United States)

    Wiebe, Colin B.; Petricca, Giorgio; Häkkinen, Lari; Jiang, Guoqiao; Wu, Chuanyue; Larjava, Hannu S.

    2009-01-01

    Background The association of aggressive periodontitis with Kindler syndrome was based on a single case in 1996 and later confirmed with a larger population. Since then, significant research has greatly increased our understanding of the molecular pathology of this disorder. We review recent advances in the molecular mechanisms of the syndrome and present a maintenance case report of a patient who has been followed in our clinic. Methods A female patient who was diagnosed with Kindler syndrome and aggressive periodontitis at the age of 16 years has been followed and treated in our clinic for 12 years. Her main treatment has been maintenance therapy following her initial treatment and restorative work previously documented. Gingival biopsies obtained during the recent extraction of hopeless maxillary molars were used for histologic assessment of gingival tissue attachment apparatus and to isolate gingival fibroblasts. Reverse transcription-polymerase chain reaction (RT-PCR) was performed using these cells to confirm the lack of expression of kindlin-1. Results RT-PCR showed the total loss of kindlin-1 mRNA in cultured gingival fibroblasts, supporting the clinical diagnosis of Kindler syndrome. Tissue biopsies revealed atypical pocket epithelium. Maintenance therapy has been moderately successful. Teeth that were recently lost had a poor prognosis at the initial assessment. The patient’s gingiva and oral mucosa continue to be fragile with episodes of sloughing and inflammation. Conclusions Periodontitis in Kindler syndrome responds to maintenance therapy, but the gingiva and oral mucosa continue to display an abnormal appearance with white patches. Histologic findings suggest that the junctional epithelium in Kindler syndrome may be abnormal and could explain why these patients have periodontal disease. Attachment loss progressed around teeth with an initial guarded or poor prognosis. Teeth that started with a good or fair prognosis continue to have a fair

  10. Macrophage Activation Syndrome as Onset of Systemic Lupus Erythematosus: A Case Report and a Review of the Literature

    Directory of Open Access Journals (Sweden)

    Guido Granata

    2015-01-01

    Full Text Available Macrophage activation syndrome (MAS is a potentially fatal condition. It belongs to the hemophagocytic lymphohistiocytosis group of diseases. In adults, MAS is rarely associated with systemic lupus erythematosus, but it also arises as complication of several systemic autoimmune disorders, like ankylosing spondylitis, rheumatoid arthritis, and adult-onset Still’s disease. Several treatment options for MAS have been reported in the literature, including a therapeutic regimen of etoposide, dexamethasone, and cyclosporine. Here we report a case of 42-year-old woman in whom MAS occurred as onset of systemic lupus erythematosus.

  11. Post-cardiac injury syndrome following transvenous pacemaker insertion: A case report and review of the literature.

    Science.gov (United States)

    Cevik, Cihan; Wilborn, Troy; Corona, Rita; Schanzmeyer, Elizabeth; Nugent, Kenneth

    2009-12-01

    Post-cardiac injury syndrome is an inflammatory process involving the pleura and pericardium secondary to cardiac injury and can develop following transvenous pacemaker insertion. We now report a patient who developed this syndrome following dual-chamber pacemaker insertion with active fixation of the atrial and ventricular leads. The pericardial fluid was bloody and had a neutrophilic predominance. The pericardial biopsy revealed fibrinous pericarditis with a mixed inflammatory cell infiltrate. The pleural effusion was exudative and had a neutrophilic predominance. Nine similar cases were identified in the English literature dating back to 1975. These patients usually present within one month after pacemaker insertion. They have exudative pericardial and pleural effusions. The pericardial effusions can cause tamponade and may require treatment with either catheter drainage or a surgical window. Some of these patients respond well to anti-inflammatory medications, including prednisone. Therefore, early identification of these patients could allow medical treatment and might help avoid the need for a surgical procedure. Cardiologists should remember that this uncommon syndrome can occur after routine endovascular procedures.

  12. Amyotrophic Lateral Sclerosis and Myasthenia Gravis Overlap Syndrome: A Review of Two Cases and the Associated Literature

    Directory of Open Access Journals (Sweden)

    Hongfei Tai

    2017-05-01

    Full Text Available ObjectiveTo describe the characteristics of patients with amyotrophic lateral sclerosis (ALS and myasthenia gravis (MG overlap syndrome and explore the relationship between the two diseases.MethodsWe conducted a search of medical records at Peking Union Medical University Hospital from 1983 to 2015 for coexistence of ALS and MG and searched the PubMed database for all literature describing ALS and MG overlap syndrome published through December 2016. We analyzed the clinical and neurophysiological characteristics of patients by groups according to strict diagnostic criteria.ResultsWe presented 2 patients in our database with combined ALS and MG, and together with 25 cases reported in the literature, the patients were divided into 4 groups: 12 patients with MG followed by ALS, 8 patients with ALS followed by MG, 5 ALS patients with false-positive anti-acetylcholine receptor, and the other 2 ALS patients with only myasthenia symptoms. Most patients had limb onset ALS, and myasthenia symptoms mainly affected ocular and bulbar muscles. Clinical and neurophysiological characteristics were summarized.ConclusionThese findings support the conclusion that immunological mechanisms and alterations in the neuromuscular junction are related to ALS pathogenesis.

  13. Literature Review of Nanosprings

    Energy Technology Data Exchange (ETDEWEB)

    Peterson, Reuben James [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

    2016-08-22

    Nanosprings are helical structures grown on the nanoscale. Numerous choices exist for composition and coating which give them a wide range of possible uses. They compare favorably in some aspects to other nanostructures and unfavorably in other aspects. This paper reviews the available literature, discusses techniques for formation and coating, and explores a variety of potential applications that may be developed in the near future.

  14. Bisphosphonates for treatment of Complex Regional Pain Syndrome type 1: A systematic literature review and meta-analysis of randomized controlled trials versus placebo.

    Science.gov (United States)

    Chevreau, Maxime; Romand, Xavier; Gaudin, Philippe; Juvin, Robert; Baillet, Athan

    2017-07-01

    Complex Regional Pain Syndrome Type 1 is a severely disabling pain syndrome with no definite established treatment. We have performed a systematic literature review and meta-analysis of all randomized controlled trials to assess the benefit of bisphosphonates on pain and function in patients with Complex Regional Pain Syndrome Type 1. A systematic literature search was performed in the Medline, Embase and Cochrane databases. Two authors selected independently blinded randomized trials comparing bisphosphonates to placebo on short-term (J30 to J40) and medium term pain (M2-M3), safety and function in patients with CRPS 1. The methodological quality of the studies was analyzed. Data were aggregated using the method of the inverse of the variance. 258 articles were identified. Four trials of moderate to good quality comprising 181 patients (90 in the bisphosphonate group and 91 in the placebo group) were included in this meta-analysis. Short-term pain Visual Analog Scale was significantly lower in the bisphosphonate group versus the placebo group (SMD=-2.6, 95%CI [-1.8, -3.4], PComplex Regional Pain Syndrome type 1. Other studies are needed to determine their effectiveness. Copyright © 2017. Published by Elsevier SAS.

  15. Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Wolfe John

    2011-06-01

    literature. The present case presentation describes the identification of Ehlers-Danlos syndrome type IV in a patient with a non-spontaneous colonic perforation secondary to an invasive investigation for another hereditary disorder pre-disposing him to colorectal cancer. Invasive procedures such as arteriograms and endoscopies are relatively contra-indicated in Ehlers-Danlos syndrome type IV. Alternatives with a lower risk of perforation, such as computed tomographic colonography, need to be considered for patients requiring ongoing colorectal cancer surveillance. Furthermore, management of vascular aneurysms in patients with Ehlers-Danlos syndrome type IV requires consideration of the risks of endovascular stenting, as opposed to open surgical intervention, because of tissue friability. Genetic and reproductive counseling should be offered to affected individuals and their families.

  16. Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.

    Science.gov (United States)

    Ali, Mohsin H; Azar, Nathalie F; Aakalu, Vinay; Chau, Felix Y; Abbasian, Javaneh; Setabutr, Pete; Maumenee, Irene H

    2018-04-01

    Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography. In addition, we review the literature on ocular manifestations of Wolf-Hirschhorn syndrome. Microarray analysis revealed an unbalanced translocation between 4p16.3-15.3 and Xp22.33-p22.2. Systemic findings included "Greek warrior helmet" facies, hypotonia, cleft palate, neonatal tooth eruption, talipes equinovarus, bilateral clinodactyly, clitoromegaly, partial agenesis of the corpus callosum, bilateral renal hypoplasia, and two atrial septal defects. Ocular findings included normal intraocular pressures and corneal diameters, large-angle exotropia, downward slanting of the palpebral fissures, absent eyelid creases, upper and lower eyelid retraction with shortage of the anterior eyelid lamellae, euryblepharon, lagophthalmos with poor Bell's reflex and exposure keratopathy, hypertelorism, Axenfeld's anomaly, megalopapillae, and cavitary optic disc anomaly. We describe the ocular phenotype of a patient with Wolf-Hirschhorn syndrome, including the rare descriptions and photographs of Axenfeld's anomaly, megalopapilla, and cavitary optic disc anomaly in this condition.

  17. Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature.

    Science.gov (United States)

    Tadiotto, Elisa; Maines, Evelina; Degani, Daniela; Balter, Rita; Bordugo, Andrea; Cesaro, Simone

    2018-04-01

    Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. Typical bone marrow (BM) features are vacuolization in hematopoietic progenitors, hypocellularity, and ringed sideroblasts. At the neonatal age, PS may have a variable clinical onset. Moreover, there is little information about BM features at this age and the timing of their presentation. We report a neonatal case of PS that presented with refractory anemia and atypical BM features. We reviewed the BM findings in neonatal-onset PS cases to stress the importance and limitations of BM evaluation at this age. © 2017 Wiley Periodicals, Inc.

  18. Prevalence of hearing loss and clinical otologic manifestations in patients with 22q11.2 deletion syndrome: A literature review.

    Science.gov (United States)

    Verheij, E; Derks, L S M; Stegeman, I; Thomeer, H G X M

    2017-12-01

    Hearing loss and otitis media are frequently reported in patients with 22q11.2 deletion syndrome. Our objective was to review the current literature on the prevalence of hearing loss and otologic manifestations in patients with 22q11.2 deletion syndrome. Systematic review. We conducted a systematic search in PubMed and Embase combining the term "22q11.2 deletion syndrome" and synonyms with "hearing loss" and "otologic manifestations" and synonyms. We screened title/abstract and full text of all retrieved articles on pre-defined in- and exclusion criteria. The remaining articles were assessed on risk of bias. Outcome measures included the prevalence of hearing loss and otologic manifestations such as otitis media. Our search yielded 558 unique studies of which a total of 25 articles were included for critical appraisal and data extraction. Twenty-one studies reported on hearing loss, and 21 studies on otologic manifestations. The prevalence of hearing loss varied from 6.0% to 60.3%, where in most studies conductive hearing loss was most prevalent. Rates of recurrent or chronic otitis media varied from 2.2% to 89.8%. Although a very broad range in prevalences is reported in different studies, hearing loss and recurrent or chronic otitis media are frequently present in patients with 22q11.2 deletion syndrome. Regular check-ups and audiometric testing are advised in these patients. © 2017 John Wiley & Sons Ltd.

  19. THYMOMA (REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    O. A. Alexandrov

    2017-01-01

    Full Text Available Objective. We aimed to systematically review the literature dealing with the epidemiology, classification, clinical course, diagnosis and treatment of thymoma. Material and methods. We reviewed retrospective and prospective randomized trials using Medline and Elibrary databases. Results. The classification system, prognostic factors, paraneoplastic syndromes and their incidence in patients with thyoma were described. The diagnostic value of computed tomography, magnetic resonance imaging and positron emission tomography was evaluated and the methods of morphologic verification were described. The main attention was paid to multimodality treatment of thymoma, including surgery and intraoperative radiotherapy. Conclusion. Thymoma is a rare tumor. The accumulation of long-term follow-up results prompted the changes in clinical management of thymoma. Predisposition to late recurrence even after radical surgery determined multimodality treatment strategies.

  20. Patient Outcomes in Association With Significant Other Responses to Chronic Fatigue Syndrome: A Systematic Review of the Literature

    Science.gov (United States)

    Band, Rebecca; Wearden, Alison; Barrowclough, Christine

    2015-01-01

    Social processes have been suggested as important in the maintenance of chronic fatigue syndrome (also known as myalgic encephalomyelitis; CFS/ME), but the specific role of close interpersonal relationships remains unclear. We reviewed 14 articles investigating significant other responses to close others with CFS/ME and the relationships between these responses and patient outcomes. Significant other beliefs attributing patient responsibility for the onset and ongoing symptoms of CFS/ME were associated with increased patient distress. Increased symptom severity, disability, and distress were also associated with both solicitous and negative significant other responses. Specific aspects of dyadic relationship quality, including high Expressed Emotion, were identified as important. We propose extending current theoretical models of CFS/ME to include two potential perpetuating interpersonal processes; the evidence reviewed suggests that the development of significant other–focused interventions may also be beneficial. PMID:26617440

  1. Multiple organ dysfunction syndrome, an unusual complication of heroin intoxication: a case report and review of literature.

    Science.gov (United States)

    Feng, Gang; Luo, Qiancheng; Guo, Enwei; Yao, Yulan; Yang, Feng; Zhang, Bingyu; Li, Longxuan

    2015-01-01

    Multiple organ dysfunction syndrome (MODS) has rarely been described in patients with heroin intoxication. Here, we report a rare case of MODS involving six organs, due to heroin intoxication. The patient was a 32-year-old Chinese man with severe heroin intoxication complicated by acute pulmonary edema and respiratory insufficiency, shock, myocardial damage and cardiac insufficiency, rhabdomyolysis and acute renal insufficiency, acute liver injury and hepatic insufficiency, toxic leukoencephalopathy, and hypoglycemia. He managed to survive and was discharged after 10 weeks of intensive care. The possible pathogenesis and therapeutic measures of MODS induced by heroin intoxication and some suggestions for preventing and treating severe complications of heroin intoxication, based on clinical evidence and the pertinent literature, are discussed in this report.

  2. Laparoscopic rectopexy for solitary rectal ulcer syndrome without overt rectal prolapse. A case report and review of the literature.

    Science.gov (United States)

    Menekse, Ebru; Ozdogan, Mehmet; Karateke, Faruk; Ozyazici, Sefa; Demirturk, Pelin; Kuvvetli, Adnan

    2014-01-01

    Solitary rectal ulcer syndrome is a rare clinical entity. Several treatment options has been described. However, there is no consensus yet on treatment algorithm and standard surgical procedure. Rectopexy is one of the surgical options and it is generally performed in patients with solitary rectal ulcer accompanied with overt prolapse. Various outcomes have been reported for rectopexy in the patients with occult prolapse or rectal intussusception. In the literature; outcomes of laparoscopic non-resection rectopexy procedure have been reported in the limited number of case or case series. No study has emphasized the outcomes of laparoscopic non-resection rectopexy procedure in the patients with solitary rectal ulcer without overt prolapse. In this report we aimed to present clinical outcomes of laparoscopic non-resection posterior suture rectopexy procedure in a 21-year-old female patient with solitary rectal ulcer without overt prolapse.

  3. Laparoscopic rectopexy for solitary rectal ulcer syndrome without overt rectal prolapse: a case report and review of the literature.

    Science.gov (United States)

    Menekse, Ebru; Ozdogan, Mehmet; Karateke, Faruk; Ozyazici, Sefa; Demirturk, Pelin; Kuvvetli, Adnan

    2014-02-20

    Solitary rectal ulcer syndrome is a rare clinical entity. Several treatment options has been described. However, there is no consensus yet on treatment algorithm and standard surgical procedure. Rectopexy is one of the surgical options and it is generally performed in patients with solitary rectal ulcer accompanied with overt prolapse. Various outcomes have been reported for rectopexy in the patients with occult prolapse or rectal intussusception. In the literature; outcomes of laparoscopic non-resection rectopexy procedure have been reported in the limited number of case or case series. No study has emphasized the outcomes of laparoscopic non-resection rectopexy procedure in the patients with solitary rectal ulcer without overt prolapse. In this report we aimed to present clinical outcomes of laparoscopic non-resection posterior suture rectopexy procedure in a 21-year-old female patient with solitary rectal ulcer without overt prolapse.

  4. Müllerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review.

    Science.gov (United States)

    AlSubaihin, Abdulmajeed; VanderMeulen, John; Harris, Kate; Duck, John; McCready, Elizabeth

    2018-04-01

    Although Müllerian agenesis is the second most common cause of primary amenorrhea the underlying etiology in most cases is unknown. Müllerian agenesis has been reported as a rare finding associated with chromosomal aberrations of the 22q11 chromosomal region including at least 1 individual with cat eye syndrome (CES) and 10 individuals with deletions or duplications of the 22q11.2 region. However, a potential link between 22q11 abnormalities and uterine malformations has been difficult to adequately ascertain because of the limited case reports in the literature. We report a second case of Müllerian agenesis in a girl with CES. A 16-year-old girl presented with bilateral colobomata, primary amenorrhea, and absence of the uterus and upper vagina on pelvic magnetic resonance imaging. Microarray analysis showed tetrasomy of the pericentromeric region of chromosome 22 diagnostic of CES. Müllerian aplasia/hypoplasia might represent a rare feature in CES and should be considered in the investigation of young girls with this syndrome. An increasing number of cases with 22q11 chromosome abnormalities and Müllerian agenesis further highlights the possibility of a gene within the 22q11 region that might mediate normal Müllerian development in girls. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  5. Primary Mediastinal Synovial Sarcoma Presenting as Superior Vena Cava Syndrome: A Rare Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Irappa Madabhavi

    2015-01-01

    Full Text Available Primary mediastinal sarcomas are aggressive tumors with a very rare incidence. This report describes the case of a 35-year-old male patient who presented with acute symptoms of dyspnoea, facial puffiness, voice-hoarseness, and engorged neck veins. With the clinical picture consistent with the superior vena cava (SVC syndrome, the patient was investigated with computed tomography of the chest. This revealed a large soft tissue density mass lesion compressing the SVC along with other critical superior mediastinal structures. Histopathological evaluation of the mass revealed features consistent with a soft tissue sarcoma and positive staining was observed for vimentin and S-100. Cytogenetic analysis by fluorescent in situ hybridisation (FISH demonstrated the t(X:18 translocation. Thus diagnosis was established as primary mediastinal synovial sarcoma. Patient was treated with three cycles of neoadjuvant chemotherapy, to which there was a partial response as per the RECIST criteria. Surgical excision of the mediastinal mass was performed, and further postoperative treatment with adjuvant chemoradiotherapy was provided. Patient currently is free of disease. This is to the best of our knowledge the first report in the world literature of a successfully treated case of “primary mediastinal sarcomas presenting as SVC syndrome.” Patient is under regular surveillance at our clinic and remains free of recurrence one year after treatment completion.

  6. Primary Mediastinal Synovial Sarcoma Presenting as Superior Vena Cava Syndrome: A Rare Case Report and Review of the Literature.

    Science.gov (United States)

    Madabhavi, Irappa; Kataria, Pritam; Patel, Apurva; Revannasiddaiah, Swaroop; Anand, Asha; Panchal, Harsha; Parikh, Sonia; Sarkar, Malay; Modi, Gaurang; Kulkarni, Rahul; Shah, Sandip

    2015-01-01

    Primary mediastinal sarcomas are aggressive tumors with a very rare incidence. This report describes the case of a 35-year-old male patient who presented with acute symptoms of dyspnoea, facial puffiness, voice-hoarseness, and engorged neck veins. With the clinical picture consistent with the superior vena cava (SVC) syndrome, the patient was investigated with computed tomography of the chest. This revealed a large soft tissue density mass lesion compressing the SVC along with other critical superior mediastinal structures. Histopathological evaluation of the mass revealed features consistent with a soft tissue sarcoma and positive staining was observed for vimentin and S-100. Cytogenetic analysis by fluorescent in situ hybridisation (FISH) demonstrated the t(X:18) translocation. Thus diagnosis was established as primary mediastinal synovial sarcoma. Patient was treated with three cycles of neoadjuvant chemotherapy, to which there was a partial response as per the RECIST criteria. Surgical excision of the mediastinal mass was performed, and further postoperative treatment with adjuvant chemoradiotherapy was provided. Patient currently is free of disease. This is to the best of our knowledge the first report in the world literature of a successfully treated case of "primary mediastinal sarcomas presenting as SVC syndrome." Patient is under regular surveillance at our clinic and remains free of recurrence one year after treatment completion.

  7. Ehlers-Danlos syndrome type IV and recurrent carotid-cavernous fistula: review of the literature, endovascular approach, technique and difficulties

    Energy Technology Data Exchange (ETDEWEB)

    Desal, H.A.; Toulgoat, F.; Raoul, S.; Guillon, B.; Bommard, S.; Naudou-Giron, E.; Auffary-Calvier, E.; Kersaint-Gilly, A. de [Department of Neuroradiology, Laennec Hospital, University of Nantes (France); 1

    2005-04-01

    We report the follow-up of a previously published case (Forlodou et al. Neuroradiology 38:595-597, 1996) of carotido-cavernous fistulas (CCFs) in a patient presenting with type IV Ehlers-Danlos syndrome (EDS 4) that were successfully treated twice by an endovascular approach. Initial treatment with a detachable balloon was in 1994 for a right CCF, and, 8 years later, a left CCF was treated by selective transarterial occlusion of the cavernous sinus with coils. Unfortunately, the patient suffered from a spontaneous post-operative intracranial haemorrhage in the left hemisphere and died. Review of the literature, technical considerations for bilateral CCF and complication are discussed.

  8. Bruxism: a literature review.

    Science.gov (United States)

    Reddy, S Varalakshmi; Kumar, M Praveen; Sravanthi, D; Mohsin, Abdul Habeeb Bin; Anuhya, V

    2014-01-01

    Parafunctional activities associated with the stomatognathic system include lip and cheek chewing, nail biting, and teeth clenching. Bruxism can be classified as awake or sleep bruxism. Patients with sleep bruxism are more likely to experience jaw pain and limitation of movement, than people who do not experience sleep bruxism. Faulty occlusion is one of the most common causes of bruxism that further leads to temporomandibular joint pain. Bruxism has been described in various ways by different authors. This article gives a review of the literature on bruxism since its first description.

  9. Fluorodeoxyglucose positron emission tomography-computed tomography scan in von Hippel-Lindau syndrome: a case report and review of literature

    International Nuclear Information System (INIS)

    Solav, Shrikant; Bhandari, Ritu

    2012-01-01

    Von Hippel-Lindau (VHL) syndrome is a hereditary autosomal dominant disorder caused by defective tumor suppression gene at 3p25-p26. The gene for VHL disease is found on chromosome 3, and is inherited in a dominant fashion. The VHL gene is a tumor suppressor gene. This means that its role in a normal cell is to stop the uncontrolled growth and proliferation. It is characterized by abnormal growth of blood vessels. It strikes the eyes, central nervous system, kidneys, endocrine glands, etc. It predisposes the patient to retinal angiomas, central nervous system hemangioblastoma, renal cell carcinoma (RCC), pheochromocytomas, islet cell tumor of the pancreas, endolymphatic sac tumors, renal, pancreatic, epididymal cysts. We present a case of familial VHL syndrome whose Fluorine 18-fluorodeoxyglucose positron emission tomography-computed tomography scan was truly positive for adrenal pheochromocytoma but was falsely negative for RCC. Review of literature related to this entity is made. (author)

  10. Lysimeter literature review

    International Nuclear Information System (INIS)

    Rogers, R.D.; McConnell, J.W. Jr.

    1993-08-01

    Many reports have been published concerning the use of lysimeters to obtain data on the performance of buried radioactive waste. This document presents a review of some of those reports. This review includes lysimeter studies using radioactive waste forms at Savannah River Site, Hanford Site, Argonne National Laboratory, and Oak Ridge National Laboratory; radionuclide tracer studies at Whiteshell Nuclear Research Establishment and Los Alamos National Laboratory; and water movement studies at the Nuclear Regulatory Commission's Beltsville, Maryland site, at the Hanford Site, and at New Mexico State University. The tests, results, and conclusions of each report are summarized, and conclusions concerning lysimeter technology are presented from an overall analysis of the literature. 38 refs., 44 figs., 9 tabs

  11. Diagnosis and therapy of polycystic ovarian syndrome: results of a survey among German gynecologists with a review on literature.

    Science.gov (United States)

    Doll, Ines; Doll, Richard; Buhling, Kai J

    2012-03-01

    Polycystic ovarian syndrome is one of the most frequent endocrine dysfunctions in women in their fertile age. To date, a clear definition of the disease remains controversial among experts, partly because study results concerning diagnostics and therapy are incoherent. In this survey, we intend to give an insight into the diagnostics and treatment regimes of PCOS in Germany and subsequently compare these results to the current recommendations found in international literature. In 2005, 7,000 outpatient gynecologists received a questionnaire with questions on PCOS definition, diagnostics and treatment. The survey shows that it remains difficult for gynecologists to restrict themselves to the few definition criteria defined in the 2003 Rotterdam PCOS Consensus Workshop. Nevertheless, therapy and diagnosis of PCOS show a uniform treatment pattern. The current recommendations found in international literature have been widely implemented into clinical practice. Modern therapeutic approaches such as the use of metformin are increasingly acknowledged. Further studies dealing with the diagnosis and therapy of PCOS will be necessary in order to establish guidelines, especially when looking at patients without a desire for reproduction.

  12. Iatrogenic Cushing's syndrome and adrenal insufficiency in infants on intranasal dexamethasone drops for nasal obstruction - Case series and literature review.

    Science.gov (United States)

    Joshi, Rohan R; Maresh, Alison

    2018-02-01

    The use of intranasal steroid drops for nasal obstruction in infants is common practice and can prevent more invasive surgical procedures; however, it is not without complication. We describe 2 cases of iatrogenic Cushing's secondary to nasal steroids in infants with nasal obstruction, discuss the etiology of this unusual complication, and review previous literature reports. While reporting in the literature is sparse, these cases highlight the risk of development of adrenal insufficiency with usage of nasal steroid drops in infants as well as the need for close monitoring of administration and tapering of the drops. Additionally, we suggest an approach to the infant with symptomatic nasal obstruction that addresses the usage of intranasal steroid drops and emphasizes the need for quick tapering and possible endocrine consultation when appropriate. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Differentiated thyroid cancer in patients with resistance to thyroid hormone syndrome. A novel case and a review of the literature.

    Science.gov (United States)

    Vinagre, João; Borges, Fátima; Costa, António; Alvelos, Maria Inês; Mazeto, Glaúcia; Sobrinho-Simões, Manuel; Soares, Paula

    2014-01-01

    Resistance to thyroid hormone (RTH) represents a syndrome in which patients present elevated circulating thyroid hormones in the presence of non-suppressed TSH. We report a novel case where a patient with RTH presented a differentiated thyroid cancer. A19 year-old female had been referred due to thyroid disease that disclosed features characteristic of a RTH. During the follow up it was detected a follicular tumor that led to the recommendation for thyroid surgical ablation, where an incidental papillary thyroid microcarcinoma (mPTC) was found. The increase of thyroglobulin (TG) levels following thyroid removal referred the patient for radioiodine treatment. Post-treatment, it was detected jugular adenopathies and the patient was subjected to cervical lymph node drainage where metastases of the mPTC were found. RTH syndrome was confirmed by the detection of a THRB germline mutation. A BRAF mutation was also found in the mPTC but not detected in the follicular adenoma or normal adjacent tissue. The young age of the patient, the rarity of BRAF mutations in childhood and the high dissemination of the malignancy, lead us to the speculation that increased TSH stimulation in a RTH background and oncogenic activation of BRAF could have served as (co) drivers and might have triggered an advanced stage of the neoplastic disease. These findings together with a review of published cases add novel information to the management of RTH patients with differentiated thyroid cancer.

  14. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

    Science.gov (United States)

    Guo, Michael H; Stoler, Joan; Lui, Julian; Nilsson, Ola; Bianchi, Diana W; Hirschhorn, Joel N; Dauber, Andrew

    2013-10-01

    Proteoglycans are a component of the extracellular matrix and are critical for cellular and tissue function. Mutations in proteoglycan components and enzymes involved in proteoglycan synthesis have been implicated in several growth disorders, with common features including short stature and skeletal dysplasia. For example, mutations in B4GALT7, a gene whose protein product catalyzes proteoglycan synthesis, have been associated with the rare progeroid variant of Ehlers-Danlos syndrome. Here, we conducted exome sequencing in a patient with a previously undiagnosed growth disorder and identified compound heterozygous mutations in B4GALT7. This patient is just the fourth individual with genetically confirmed progeroid variant of Ehlers-Danlos syndrome. The mutations include a previously characterized c.808C>T p.Arg270Cys substitution, and a novel c.122T>C p.Leu41Pro substitution. We demonstrate that the novel mutation caused decreased levels of the enzyme, supporting the pathogenicity of the mutation. Our report identifies a novel mutation in B4GALT7 causing the progeroid variant of Ehlers-Danlos syndrome and contributes an extensive phenotypic characterization of a patient with the syndrome. We also reviewed the previous literature in addition to the present patient, and conclude that the key features associated with B4GALT7 deficiency are short stature, developmental anomalies of the forearm bones and elbow, and bowing of the extremities, in addition to the classic features of Ehlers-Danlos syndrome. This report helps define the phenotype of the progeroid variant of Ehlers-Danlos syndrome and furthers our understanding of the effect of proteoglycan defects in growth disorders. Copyright © 2013 Wiley Periodicals, Inc.

  15. Myelodysplastic Syndrome with Myelofibrosis Transformed to a Precursor B-Cell Acute Lymphoblastic Leukemia: A Case Report with Review of the Literature

    Directory of Open Access Journals (Sweden)

    Ayed A. Algarni

    2012-01-01

    Full Text Available Myelodysplastic syndromes (MDS comprise a group of heterogeneous clonal hematopoietic cell disorders characterized by cytopenias, bone marrow hypercellularity, and increased risk of transformation to acute leukemias. MDS usually transformed to acute myeloid leukemia, and transformation to acute lymphoblastic leukemia (ALL is rare. Herein, we report a unique patient who presented with MDS with myelofibrosis. Two months after the initial diagnosis, she progressed to a precursor B-cell acute lymphoblastic leukemia. She was treated with induction therapy followed by allogenic stem cell transplantation. She was alive and doing well upon last followup. We have also reviewed the literature and discussed the clinicopathologic features of 36 MDS patients who progressed to ALL reported in the literature.

  16. Nuclear Energy Literature Review

    International Nuclear Information System (INIS)

    Simic, Z.; Wastin, F.

    2016-01-01

    In the light of five years after a major accident at the Fukushima Daiichi nuclear power plant it is interesting to make nuclear energy related literature review. There is a number of accidents related reports from all major international institutions (like the IAEA and OECD NEA) and research organizations have drawn conclusions and lessons to learn from this terrible accident. These reports are the result of expert and scientific analyses carried out during these five years and they present ideal sources for both understanding what has happened and what can be learned in order to avoid and mitigate effects of such events in the future. From a wider perspective it is also interesting to analyze the impact on research and development (R and D) activities. This literature review is performed with hope to gain some useful insights from the analysis of the volume and topics in all research activities related to the Fukushima accident and nuclear energy (NE) altogether. This kind of review should at least provide an overview of trends and provide base for better planning of future activities. This paper analyzes the published NE related research of over more than 50 years with focus on three major nuclear accidents (TMI, Chernobyl and Fukushima). It has been performed using Scopus tools and database, and mainly focuses on statistics related to the subjects, countries, keywords and type of publishing. It also analyses how responsive is nuclear energy related R and D regarding the volume and subjects, and how is that research spread among most active countries. Nuclear power accidents influence increase and change of research. Both accidents, Chernobyl and Fukushima had maximum share in all nuclear power related papers at similar yearly level (9 percent in 1991 and 12 percent in 2015 respectively). TMI peaked at the 2.5 percent share in 1982. Engineering is the most frequent subjects for TMI and cumulative NE related publishing. Medicine and environmental science subjects

  17. CROSSFLOW FILTRATON: LITERATURE REVIEW

    Energy Technology Data Exchange (ETDEWEB)

    Duignan, M.

    2011-01-01

    As part of the Filtration task EM-31, WP-2.3.6, which is a joint effort between Savannah River National Laboratory (SRNL) and the Pacific Northwest National Laboratory (PNNL), tests were planned to evaluate crossflow filtration in order to the improve the use of existing hardware in the waste treatment plants at both the Department of Energy (DOE) Savannah River Site (SRS) and Hanford Site. These tests included experiments to try different operating conditions and additives, such as filter aids, in order to create a more permeable filter cake and improve the permeate flux. To plan the SRNL tests a literature review was performed to provide information on previous experiments performed by DOE laboratories, and by academia. This report compliments PNNL report (Daniel, et al 2010), and is an attempt to try and capture crossflow filtration work performed in the past that provide a basis for future testing. However, not all sources on crossflow filtration could be reviewed due to the shear volume of information available. In this report various references were examined and a representative group was chosen to present the major factors that affect crossflow filtration. The information summarized in this review contains previous operating conditions studied and their influence on the rate of filtration. Besides operating conditions, other attempted improvements include the use of filter aids, a pre-filtration leaching process, the backpulse system, and various types of filter tubes and filter coatings. The results from past research can be used as a starting point for further experimentation that can result in the improvement in the performance of the crossflow filtration. The literature reviewed in this report indicates how complex the crossflow issues are with the results of some studies appearing to conflict results from other studies. This complexity implies that filtration of mobilized stored waste cannot be explained in a simple generic sense; meaning an empirical

  18. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations : A case report and review of the literature

    NARCIS (Netherlands)

    Verheij, Johanna B G M; Sival, Deborah A; van der Hoeven, Johannes H; Vos, Yvonne J; Meiners, Linda C; Brouwer, Oebele F; van Essen, Anthonie J

    Shah-Waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmoid (Hirschsprung disease), and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness (Waardenburg syndrome). Mutations

  19. Ogilvie's syndrome (acute colonic pseudo-obstruction): review of the literature (October 1948 to March 1980) and report of four additional cases.

    Science.gov (United States)

    Nanni, G; Garbini, A; Luchetti, P; Nanni, G; Ronconi, P; Castagneto, M

    1982-03-01

    Four additional cases of Ogilvie's syndrome (acute colonic pseudo-obstruction), representing the first cases described in Italy, are reported. The medical literature concerning the subject is also thoroughly reviewed. Ogilvie's syndrome is an acute massive dilatation of the large bowel without organic obstruction of the distal colon. Three hundred and fifty-one cases have been described in the literature to date. Eighty-eight per cent of the cases were associated with various extracolonic affections (metabolic and organ dysfunctions, postoperative and posttraumatic states, etc.). Twelve per cent of cases were not associated with known disorders and were defined as idiopathic. The pathophysiology of the syndrome is still unknown. Ogilvie, who first described the syndrome in 1948, suggested an imbalance between the sympathetic and parasympathetic innervation of the colon: this neurogenic hypothesis has been shared by other authors, although explanations may differ slightly. The clinical and radiologic picture closely resembles mechanical obstruction of the large bowel. The most marked dilatation usually takes place in the right colon and cecum: if the distended cecum reaches a diameter larger than 9 to 12 cm, perforation is likely to occur; if perforation occurs, the mortality rate increases from 25 to 31 per cent to about 43 to 46 per cent. If conservative management fails to control the dilatation and cecal rupture is impending or suspected emergency surgery is indicated, the surgical procedure of choice is dictated by the general conditions of the patient as well as by the intestinal findings: operation may consist of cecostomy, colostomy, or right hemicolectomy or simply emptying the bowel.

  20. [Adult Grisel Syndrome and Cervical Skull instability. Transnasal endoscopic odontoidectomy and occipito-cervical fusion. Case report and literature review].

    Science.gov (United States)

    Herrera, Roberto; Rojas, Héctor; Estramian, Ariel; Gómez, Julieta; Ledesma, José Luis; Pablo, José; Pastore, Julián

    2018-01-01

    Craniocervical junction pathology is infrequent in daily neurosurgical practice. In general, most of these lesions are of traumatic or rheumatic origin. Atlantoaxial instability of inflammatory origin (Grisel syndrome) is a rare entity of which only 16 adult cases have been reported in the literature. This pathology is characterized by the development of an osteolytic lesion at the level of the atlantoaxial joint after an infectious event, usually of the upper airways. We present the case of a 76-year-old patient who attended our office for clinical symptoms of spinal instability secondary to an osteolytic lesion, with involvement of C1 and C2. The symptomatology began after an infectious respiratory process. A posterior cervical occiput fixation and an endoscopic transnasal odontoidectomy with anterior decompression were performed. The patient evolved with complete resolution of symptoms. The cultures were negative, and the pathological anatomy study concluded nonspecific inflammatory changes. Until a few years ago, the only option to address this pathology was the transoral pathway with microsurgical technique. Nowadays, endoscopy offers many technical advantages. This is an option to be considered when planning approaches to craniocervical junction.

  1. [Pediatric complex regional pain syndrome affecting an upper limb: 7 cases and a brief review of the literature].

    Science.gov (United States)

    Cebrián, J; Sánchez, P

    2009-03-01

    To review the clinical, psychiatric, and social characteristics of complex regional pain syndrome in children and adolescents treated in the last 4 years at our pediatric pain clinic. We analyzed the specialty of the initial treating physician, age, sex, initial diagnosis, pain intensity, degree of disability, fear of movement, clinical stage, history of trauma, time between onset and diagnosis, psychiatric illness, family support and behavior, chronic pain in near relatives, school grades and attendance, treatment given at the pediatric pain clinic, recurrences, and course of disease. The cases of 7 patients (4 female, 3 male) between the ages of 8 and 15 years were analyzed. Four had been referred by the child psychiatry department. The initial diagnosis was erroneous in all but 1 case. Pain intensity and associated disability were severe in 5 patients and 4 expressed intense fear of moving the limb. Five patients had initial stage I disease, 5 had a history of trauma, and 5 had been previously treated by immobilization of the limb and prescription of nonsteroidal anti-inflammatory drugs. The time between onset and diagnosis ranged from 2 to 18 months (mean [SD], 6.4 [3.5] months). In most cases psychiatric disease and concomitant social disability were present. Treatment prescribed at the pediatric pain clinic consisted of a combination of oral medication, psychologic and psychiatric counseling, and intensive physiotherapy for all but 2 children, who required regional nerve blocks. The clinical course was satisfactory for all but 1 patient, who developed severe disability. Complex regional pain syndrome affecting an upper limb is uncommon in children but not rare.

  2. Animal health syndromic surveillance: a systematic literature review of the progress in the last 5 years (2011–2016

    Directory of Open Access Journals (Sweden)

    Dórea FC

    2016-11-01

    Full Text Available Fernanda C Dórea,1 Flavie Vial2 1Department of Disease Control and Epidemiology, National Veterinary Institute (SVA, Uppsala, 2Epi-Connect, Skogås, Sweden Abstract: This review presents the current initiatives and potential for development in the field of animal health surveillance (AHSyS, 5 years on from its advent to the front of the veterinary public health scene. A systematic review approach was used to document the ongoing AHSyS initiatives (active systems and those in pilot phase and recent methodological developments. Clinical data from practitioners and laboratory data remain the main data sources for AHSyS. However, although not currently integrated into prospectively running initiatives, production data, mortality data, abattoir data, and new media sources (such as Internet searches have been the objective of an increasing number of publications seeking to develop and validate new AHSyS indicators. Some limitations inherent to AHSyS such as reporting sustainability and the lack of classification standards continue to hinder the development of automated syndromic analysis and interpretation. In an era of ubiquitous electronic collection of animal health data, surveillance experts are increasingly interested in running multivariate systems (which concurrently monitor several data streams as they are inferentially more accurate than univariate systems. Thus, Bayesian methodologies, which are much more apt to discover the interplay among multiple syndromic data sources, are foreseen to play a big part in the future of AHSyS. It has become clear that early detection of outbreaks may not be the principal expected benefit of AHSyS. As more systems will enter an active prospective phase, following the intensive development stage of the last 5 years, the study envisions AHSyS, in particular for livestock, to significantly contribute to future international-, national-, and local-level animal health intelligence, going beyond the detection and

  3. Peripheral T-Cell Lymphoma of the Submandibular Salivary Gland as an Unusual Manifestation of Richter's Syndrome: A Case Report and Literature Review

    Science.gov (United States)

    Probatova, Natalya A.

    2017-01-01

    Richter's syndrome is the development of high-grade non-Hodgkin lymphoma (NHL) or Hodgkin lymphoma in patients with chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL). In most patients with Richter's syndrome, the high-grade NHL is diffuse large B-cell lymphoma. Only a small minority of CLL/SLL patients develop T-cell malignancies. Herein, we describe a 40-year-old male patient presenting with peripheral T-cell lymphoma not otherwise specified (PTCL-NOS) in the submandibular salivary gland, two years after the diagnosis of CLL/SLL. The PTCL-NOS consisted of small lymphocytes, which complicated diagnosis. Immunohistochemical, cytological, and molecular studies allowed the correct diagnosis of composite lymphoma (SLL/PTCL-NOS) of the submandibular salivary gland. The PTCL-NOS had a cytotoxic phenotype and aberrant expression of CD79a. There was no evidence to suggest that the PTCL-NOS of the submandibular salivary gland developed from an intimately associated submandibular lymph node or by PTCL-NOS dissemination. A review of the literature and presented case suppose that the PTCLs developed following CLL/SLL have the cytotoxic phenotype and can clinically mimic typical Richter's syndrome. PMID:29410924

  4. Peripheral T-Cell Lymphoma of the Submandibular Salivary Gland as an Unusual Manifestation of Richter’s Syndrome: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Vadim R. Gorodetskiy

    2017-01-01

    Full Text Available Richter’s syndrome is the development of high-grade non-Hodgkin lymphoma (NHL or Hodgkin lymphoma in patients with chronic lymphocytic leukemia (CLL/small lymphocytic lymphoma (SLL. In most patients with Richter’s syndrome, the high-grade NHL is diffuse large B-cell lymphoma. Only a small minority of CLL/SLL patients develop T-cell malignancies. Herein, we describe a 40-year-old male patient presenting with peripheral T-cell lymphoma not otherwise specified (PTCL-NOS in the submandibular salivary gland, two years after the diagnosis of CLL/SLL. The PTCL-NOS consisted of small lymphocytes, which complicated diagnosis. Immunohistochemical, cytological, and molecular studies allowed the correct diagnosis of composite lymphoma (SLL/PTCL-NOS of the submandibular salivary gland. The PTCL-NOS had a cytotoxic phenotype and aberrant expression of CD79a. There was no evidence to suggest that the PTCL-NOS of the submandibular salivary gland developed from an intimately associated submandibular lymph node or by PTCL-NOS dissemination. A review of the literature and presented case suppose that the PTCLs developed following CLL/SLL have the cytotoxic phenotype and can clinically mimic typical Richter’s syndrome.

  5. Overweight and obesity in children and adolescents with Down syndrome-prevalence, determinants, consequences, and interventions: A literature review.

    Science.gov (United States)

    Bertapelli, Fabio; Pitetti, Ken; Agiovlasitis, Stamatis; Guerra-Junior, Gil

    2016-10-01

    Children with Down syndrome (DS) are more likely to be overweight or obese than the general population of youth without DS. To review the prevalence of overweight and obesity and their determinants in youth with DS. The health consequences and the effectiveness of interventions were also examined. A search using MEDLINE, Embase, Web of Science, Scopus, CINAHL, PsycINFO, SPORTDiscus, LILACS, and COCHRANE was conducted. From a total of 4280 studies, we included 45 original research articles published between 1988 and 2015. The combined prevalence of overweight and obesity varied between studies from 23% to 70%. Youth with DS had higher rates of overweight and obesity than youths without DS. Likely determinants of obesity included increased leptin, decreased resting energy expenditure, comorbidities, unfavorable diet, and low physical activity levels. Obesity was positively associated with obstructive sleep apnea, dyslipidemia, hyperinsulinemia, and gait disorder. Interventions for obesity prevention and control were primarily based on exercise-based programs, and were insufficient to achieve weight or fat loss. Population-based research is needed to identify risk factors and support multi-factorial strategies for reducing overweight and obesity in children and adolescents with DS. Copyright © 2016 Elsevier Ltd. All rights reserved.

  6. The Evaluation and Management of Toxic Shock Syndrome in the Emergency Department: A Review of the Literature.

    Science.gov (United States)

    Gottlieb, Michael; Long, Brit; Koyfman, Alex

    2018-01-20

    Toxic shock syndrome (TSS) is a severe, toxin-mediated illness that can mimic several other diseases and is lethal if not recognized and treated appropriately. This review provides an emergency medicine evidence-based summary of the current evaluation and treatment of TSS. The most common etiologic agents are Staphylococcus aureus and Streptococcus pyogenes. Sources of TSS include postsurgical wounds, postpartum, postabortion, burns, soft tissue injuries, pharyngitis, and focal infections. Symptoms are due to toxin production and infection focus. Early symptoms include fever, chills, malaise, rash, vomiting, diarrhea, and hypotension. Diffuse erythema and desquamation may occur later in the disease course. Laboratory assessment may demonstrate anemia, thrombocytopenia, elevated liver enzymes, and abnormal coagulation studies. Diagnostic criteria are available to facilitate the diagnosis, but they should not be relied on for definitive diagnosis. Rather, specific situations should trigger consideration of this disease process. Treatment involves intravenous fluids, source control, and antibiotics. Antibiotics should include a penicillinase-resistant penicillin, cephalosporin, or vancomycin (in methicillin-resistant S. aureus prevalent areas) along with either clindamycin or linezolid. TSS is a potentially deadly disease requiring prompt recognition and treatment. Focused history, physical examination, and laboratory testing are important for the diagnosis and management of this disease. Understanding the evaluation and treatment of TSS can assist providers with effectively managing these patients. Published by Elsevier Inc.

  7. Ophthalmic complications including retinal detachment in hyperimmunoglobulinemia E (Job′s syndrome: Case report and review of literature

    Directory of Open Access Journals (Sweden)

    Arora Vipul

    2009-01-01

    Full Text Available Hyperimmunoglobulinemia E (Job′s syndrome is characterized by markedly increased levels of immunoglobulin E, recurrent cutaneous and systemic pyogenic infections, atopic dermatitis, and peripheral eosinophilia. Although ocular involvement in Job′s syndrome is rare, there are reports of keratoconus, staphylococcal chalazia with blepharitis, and endophthalmitis by various authors. We present the first case report of retinal detachment with complicated cataract in Job′s syndrome.

  8. Popliteal Artery Entrapment Syndrome in Children: Experience With Four Cases of Acute Ischaemia and Review of the Literature.

    Science.gov (United States)

    Settembre, N; Bouziane, Z; Bartoli, M A; Nabokov, V; Venermo, M; Feugier, P; Malikov, S

    2017-04-01

    Popliteal artery entrapment syndrome (PAES) is an uncommon anatomical anomaly, frequently described in adults. The most common symptom is claudication. Acute limb ischaemia (ALI) in children is rare, but it may evolve and lead to limb loss or lifelong complications. Clinical and surgical experience of PAES in children is reported. Data from the literature are analysed in order to assess the severity of this disease and to identify the factors characterising the diagnosis and the outcome of treatment in paediatric patients. Four children (aged 7-16 years) were referred with ALI due to PAES. Among the 439 articles reporting cases of PAES, 55 patients under 18 years of age were the focus. The PAES cases were classified according to the Love and Whelan classification modified by Rich. Data from 79 children (106 limbs, 27 bilateral PAES) were collected and analysed. Type I PAES was present in 41 (39%), Type II in 23 (22%), Type III in 24 (23%), Type IV in 12 (11%), and Type V in two (2%) limbs. A functional PAES was present in one patient bilaterally. In two cases, the type of PAES was not reported. Claudication occurred in 68 cases (64%), and ALI in 19 (18%). In 60 cases (57%), revascularisation with or without myotomy was required; myotomy alone was performed in 41 cases (39%). Symptomatic PAES in children should be considered a severe condition requiring urgent investigation in order to avoid any delays in the treatment. Early diagnosis and treatment are essential to prevent serious complications. The long-term outcomes of surgical treatment with the correction of the anatomical anomaly and vascular reconstruction are satisfactory with a low complication rate. Copyright © 2017 European Society for Vascular Surgery. Published by Elsevier Ltd. All rights reserved.

  9. Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature

    Directory of Open Access Journals (Sweden)

    Meyer Günther

    2010-07-01

    Full Text Available Abstract Background and Case Presentation A patient with nevoid basal cell carcinoma syndrome (Gorlin syndrome presented with two unusual clinical features, i.e. adenocarcinoma of the small bowel and extensive mesenchymal proliferation of the lower gastrointestinal tract. Conclusions We discuss the possibility that these two features are pathogenetically linked to the formerly undescribed patient's PTCH germ line mutation.

  10. Intracerebral hemorrhage associated with Sneddon's syndrome: is ischemia-related angiogenesis the cause? Case report and review of the literature

    International Nuclear Information System (INIS)

    Aquino Gondim, F. de A.; Leacock, R.O.; Subrammanian, T.A.; Cruz-Flores, S.

    2003-01-01

    Sneddon's syndrome is characterized by livedo reticularis and multiple ischemic infarcts often associated with antiphospholipid antibodies. Intracerebral hemorrhage (ICH) is unusual in Sneddon's syndrome and has not been reported as the presenting complaint. We report a 38-year-old woman with a history of two miscarriages, Raynaud's phenomenon and livedo reticularis who presented acutely with ICH. Angiography showed prominent leptomeningeal and transdural anastomoses (pseudoangiomatosis). Anticardiolipin antibodies were positive. A right frontal brain biopsy failed to reveal vasculitis and a skin biopsy was nonspecific. MRI showed residual intracerebral hemorrhage (ICH), diffuse atrophy, multiple small white matter infarcts and leptomeningeal enhancement. This is the first report of Sneddon's syndrome presenting with an ICH. It shares features with the Divry-van Bogaert syndrome. We discuss the cause of the pseudoangiomatosis pattern and its role in the genesis of the hemorrhage and suggest that cerebral angiography should be done in every patient with Sneddon's syndrome, as it could impact therapy. (orig.)

  11. Severe Cushing’s syndrome due to small cell prostate carcinoma: a case and review of literature

    Directory of Open Access Journals (Sweden)

    M S Elston

    2017-07-01

    Full Text Available Cushing’s syndrome (CS due to ectopic adrenocorticotrophic hormone (ACTH is associated with a variety of tumours most of which arise in the thorax or abdomen. Prostate carcinoma is a rare but important cause of rapidly progressive CS. To report a case of severe CS due to ACTH production from prostate neuroendocrine carcinoma and summarise previous published cases. A 71-year-old male presented with profound hypokalaemia, oedema and new onset hypertension. The patient reported two weeks of weight gain, muscle weakness, labile mood and insomnia. CS due to ectopic ACTH production was confirmed with failure to suppress cortisol levels following low- and high-dose dexamethasone suppression tests in the presence of a markedly elevated ACTH and a normal pituitary MRI. Computed tomography demonstrated an enlarged prostate with features of malignancy, confirmed by MRI. Subsequent prostatic biopsy confirmed neuroendocrine carcinoma of small cell type and conventional adenocarcinoma of the prostate. Adrenal steroidogenesis blockade was commenced using ketoconazole and metyrapone. Complete biochemical control of CS and evidence of disease regression on imaging occurred after four cycles of chemotherapy with carboplatin and etoposide. By the sixth cycle, the patient demonstrated radiological progression followed by recurrence of CS and died nine months after initial presentation. Prostate neuroendocrine carcinoma is a rare cause of CS that can be rapidly fatal, and early aggressive treatment of the CS is important. In CS where the cause of EAS is unable to be identified, a pelvic source should be considered and imaging of the pelvis carefully reviewed.

  12. Long-term efficacy and safety of otilonium bromide in the management of irritable bowel syndrome: a literature review.

    Science.gov (United States)

    Triantafillidis, John K; Malgarinos, George

    2014-01-01

    Irritable bowel syndrome (IBS) is a very common functional gastrointestinal disorder characterized by abdominal pain or discomfort and altered bowel habits. The disease affects a large part of the world population. The clinical course is mostly characterized by a cyclic recurrence of symptoms. Therefore, IBS patients should receive, as an initial therapeutic approach, a short course of treatment, and long-term treatment should be reserved for those patients with recurrent symptoms. The available clinical trials show that significant improvement of the symptoms over placebo could be achieved with various drugs, although this improvement is frequently time dependent and with high relapse rates after the cessation of the treatment. In a proportion of patients, clinically obvious relapse could appear long after stopping the treatment. Some of the available pharmacologic agents, including otilonium bromide (OB), are able to significantly prolong the time to the appearance of relapse, compared with placebo. As a consequence, some authors suggest that a cyclic treatment could be of benefit. Antispasmodic drugs have been used for many years in an effort to control the symptoms of IBS. OB is a poorly absorbed spasmolytic drug, exerting significantly greater control of the symptoms of IBS compared with placebo. Recent data suggest that the drug could effectively be used for the long-term management of patients with IBS. The aim of this review is to provide the reader with an evidence-based overview of the efficacy and tolerability of OB in the long-term management of IBS patients, based on the results of the clinical trials published so far.

  13. MRI Findings of Syndrome of Acute Bilateral Symmetrical Basal Ganglia Lesions in Diabetic Uremia: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Xin Cao

    2016-01-01

    Full Text Available The syndrome of acute bilateral basal ganglia lesions is an uncommon clinical occurrence exhibiting acute onset of movement abnormalities, which can be seen almost exclusively among patients with chronic renal failure, especially in the setting of concurrent diabetes mellitus. Symmetrical lesions located in basal ganglia demonstrated in MRI are typical manifestation of this syndrome. Our study includes routine MRI examination, MRS, 3D-ASL, and SWI findings, which have been rarely reported and will contribute to diagnosing more cases about this syndrome.

  14. Cogan's syndrome is a new nosological entity in the current classification of systemic vasculitides: A clinical case and a review of literature

    Directory of Open Access Journals (Sweden)

    T. V. Beketova

    2016-01-01

    Full Text Available The paper describes a clinical case of the typical variant of Cogan's syndrome (CS, a new nosological entity in the current classification of systemic vasculitides (SV, which belongs to a group of variable vasculitides. The literature review highlights in detail the problems of the diagnosis and treatment of this rare disease.CS is characterized by inflammatory eye involvement (interstitial keratitis, uveitis, and episcleritis and hearing problems (sensorineural hearing loss, vestibular disorders with the possible development of vasculitis at other sites, aortitis, and aortic or mitral lesions. A systemic lesion involving the ears and eyes necessitates to rule out granulomatosis with polyangiitis (Wegener's and to make a differential diagnosis with a wide range of diseases. The given data underline the need for the interdisciplinary collaboration of rheumatologists, otorhinolaryngologists, audiologists, oculists, and cardiologists in order to improve the diagnosis and treatment of this form of SV. 

  15. Miliary tuberculosis with no pulmonary involvement in myelodysplastic syndromes: a curable, yet rarely diagnosed, disease: case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Krambovitis Elias

    2008-03-01

    Full Text Available Abstract Background Although tuberculosis is not uncommon among patients with myelodysplastic syndrome (MDS, only a few reports of such patients suffering from miliary tuberculosis (MT exist. MT often presents as a fever of unknown origin and it is a curable disease, yet fatal if left untreated. Case presentation We report a case of MT with no clinical or laboratory indications of pulmonary involvement in a patient with MDS, and review the relevant literature. Mycobacterium tuberculosis was isolated from the liquid culture of a bone marrow aspirate. Conclusion Even if the initial diagnostic investigation for a fever of obscure etiology is negative, MT should not be excluded from the differential diagnosis list. Since it is a curable disease, persistent and vigorous diagnostic efforts are warranted. In suspected cases, mycobacterial blood cultures should be collected as soon as possible after hospital admission and early bone marrow aspirate with mycobacterial cultures is advocated.

  16. Antipsychotic dose escalation as a trigger for Neuroleptic Malignant Syndrome (NMS: literature review and case series report

    Directory of Open Access Journals (Sweden)

    Langan Julie

    2012-11-01

    Full Text Available Abstract Background “Neuroleptic malignant syndrome” (NMS is a potentially fatal idiosyncratic reaction to any medication which affects the central dopaminergic system. Between 0.5% and 1% of patients exposed to antipsychotics develop the condition. Mortality rates may be as high as 55% and many risk factors have been reported. Although rapid escalation of antipsychotic dose is thought to be an important risk factor, to date it has not been the focus of a published case series or scientifically defined. Description We aimed to identify cases of NMS and review risk factors for its development with a particular focus on rapid dose escalation in the 30 days prior to onset. A review of the literature on rapid dose escalation was undertaken and a pragmatic definition of “rapid dose escalation” was made. NMS cases were defined using DSM-IV criteria and systematically identified within a secondary care mental health service. A ratio of titration rate was calculated for each NMS patient and “rapid escalators” and “non rapid escalators” were compared. 13 cases of NMS were identified. A progressive mean dose increase 15 days prior to the confirmed episode of NMS was observed (241.7 mg/day during days 1–15 to 346.9 mg/day during days 16–30 and the mean ratio of dose escalation for NMS patients was 1.4. Rapid dose escalation was seen in 5/13 cases and non rapid escalators had markedly higher daily cumulative antipsychotic dose compared to rapid escalators. Conclusions Rapid dose escalation occurred in less than half of this case series (n = 5, 38.5%, although there is currently no consensus on the precise definition of rapid dose escalation. Cumulative antipsychotic dose – alongside other known risk factors - may also be important in the development of NMS.

  17. Literature review, Denmark

    DEFF Research Database (Denmark)

    Vestergaard, Jens; Linneberg, Mai Skjøtt; Nielsen, Robert Green

    2001-01-01

    Gives an overvie of the situation with respect to organic and conversion markets in Denmark based on exsisting literature. The following subjects are covered. National Policies. Agricultural Production. Conversion. Agricultural Marketing......Gives an overvie of the situation with respect to organic and conversion markets in Denmark based on exsisting literature. The following subjects are covered. National Policies. Agricultural Production. Conversion. Agricultural Marketing...

  18. Is secukinumab a safe alternative treatment for ankylosing spondylitis with Guillain Barré syndrome after anti-TNF-α treatment? Case report and literature review.

    Science.gov (United States)

    Psarelis, Savvas; Hajineocli, Andreas P D; Hadjicosta, Eleni; Elliott, Hugh St A; Johnson, Paul

    2017-05-01

    In this report, we aim to add to the existing body of evidence regarding a link between anti- tumor necrosis factor alpha (anti-TNF-α) treatment and demyelination leading to neurological disorders, specifically Guillain Barré syndrome (GBS), and treatment with an interleukin-17A (IL17A) antagonist as a safe alternative for ankylosing spondylitis (AS). A literature review was carried out of current research concerning anti-TNF-α and induced GBS. Only papers published in English were reviewed and only peer-reviewed journals searched. Papers published up to September 2016 were included. Animal studies were excluded. Data bases searched for publications online included: Pub Med, Google Scholar, The Cochrane Library, and Web of Science. Searched terms include "anti-TNF" and "Guillain Barré", "IL17 Ankylosing Spondylitis", "Secukinumab" and "TNF-α", "adalimumab", "infliximab", and "etanercept". All combinations and outcomes were used, and from these searches, a provisional reference list was constructed. The short-listed articles were read and their reference lists were reviewed. The electromyogram done for the patient showed demyelination, the MRI of the brain showed no pathologies, and the MRI of the spine was consistent with ankylosing spondylitis without myelopathy. The lumbar puncture results showed albuminocytological dissociation that was consistent with GBS. TNF has a proinflammatory action, and various immunoregulatory actions that, together, seem to promote the development of peripheral neuropathies syndromes in the organism. However, there is no clear mechanism of why or how anti-TNF-α treatment can induce a demyelinating event in a patient. In the case presented, it was found that the patient developed GBS due to treatment with etanercept, an anti-TNF agent. The treatment was stopped immediately. Two years later, he was switched to secukinumab and has been well controlled for the last 8 months with no neurological findings.

  19. Herlyn-Werner-Wunderlich syndrome: MRI findings, radiological guide (two cases and literature review), and differential diagnosis.

    Science.gov (United States)

    Del Vescovo, Riccardo; Battisti, Sofia; Di Paola, Valerio; Piccolo, Claudia L; Cazzato, Roberto L; Sansoni, Ilaria; Grasso, Rosario F; Zobel, Bruno Beomonte

    2012-03-09

    Herlyn-Werner-Wunderlich (HWW) syndrome is a very rare congenital anomaly of the urogenital tract involving Müllerian ducts and Wolffian structures, and it is characterized by the triad of didelphys uterus, obstructed hemivagina and ipsilateral renal agenesis. It generally occurs at puberty and exhibits non-specific and variable symptoms with acute or pelvic pain shortly following menarche, causing a delay in the diagnosis. Moreover, the diagnosis is complicated by the infrequency of this syndrome, because Müllerian duct anomalies (MDA) are infrequently encountered in a routine clinical setting. two cases of HWW syndrome in adolescents and a differential diagnosis for one case of a different MDA, and the impact of magnetic resonance (MR) imaging technology to achieve the correct diagnosis. MR imaging is a very suitable diagnostic tool in order to perform the correct diagnosis of HWW syndrome.

  20. Non-syndromic non-familial agenesis of major salivary glands: A report of two cases with review of literature

    Directory of Open Access Journals (Sweden)

    Ravi Prakash Sasankoti Mohan

    2013-01-01

    Full Text Available Agenesis of the major salivary glands is a rare and unusual condition, with only a few cases documented in the literature. The anomaly can be total or partial, unilateral or bilateral, and involve the parotid, submandibular, and sublingual glands. The resultant xerostomia leads to extensive dental demineralization. The authors report two cases with decreased saliva volume, impaired dental condition with extensive loss of tooth structure, and an astonishing pattern of dental destruction most notable on the facial and lingual surfaces of incisors and canines that can be best described as "chipping." After detailed review of patient history, clinical examination, ultrasonography, contrast enhanced computed tomography, and magnetic resonance imaging a diagnosis of congenital absence of major salivary glands in both the patients was made. Dentists should be aware that salivary gland aplasia is an uncommon cause of dental deterioration. It may manifest itself not by extensive caries but as dental chipping effect. Early recognition and a therapeutic strategy can prevent further dental damage.

  1. 12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.

    Science.gov (United States)

    Heldt, Frederik; Wallaschek, Hannah; Ripperger, Tim; Morlot, Susanne; Illig, Thomas; Eggermann, Thomas; Schlegelberger, Brigitte; Scholz, Caroline; Steinemann, Doris

    2018-03-01

    We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent forehead and a failure to thrive, but did not show relative macrocephaly. In addition, our index patient showed dysmorphic facial features, periodically increased sweating, and scoliosis. Learning problems and cardiac arrhythmia presented as additional features of her brother. Using high-resolution array-CGH, heterozygosity for a 1.67 Mb deletion in 12q14.3 was detected in the index patient. The heterozygous loss was confirmed by MLPA in the index patient and the other two affected family members. The deletion includes the genes HMGA2, LLPH, TMBIM4, IRAK3, HELB, GRIP1, and the pseudogene RPSAP52. We conclude from these results and from the data of other patients reported in the literature that haploinsufficiency of HMGA2 leads to the short stature in this family. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

  2. Nephrogenic adenoma of the bladder in a prune belly syndrome patient: case report and review of the literature.

    Science.gov (United States)

    Broecker, Justine S; Steelman, Charlotte K; Broecker, Bruce H; Shehata, Bahig M

    2011-01-01

    Nephrogenic adenoma (NA) is a rare lesion of the urinary tract widely considered to be a metaplastic response to urothelial injury. Herein, we present the case of an 8-year-old male with prune belly syndrome who presented with gross hematuria. Investigation revealed a bladder mass; however, upon cystoscopic examination, multiple polypoid lesions were identified. Microscopic examination revealed NA of the bladder. To our knowledge, this is the second reported case of NA of the bladder in association with prune belly syndrome.

  3. Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature

    Directory of Open Access Journals (Sweden)

    Ramush Bejiqi

    2015-03-01

    Since first classification from Feil in three categories (I – III other classification systems have been advocated to describe the anomalies, predict the potential problems, and guide treatment decisions. Patients with Klippel-Feil syndrome usually present with the disease during childhood, but may present later in life. The challenge to the clinician is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform the appropriate workup for diagnosis.

  4. Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature

    OpenAIRE

    Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim

    2015-01-01

    First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back ...

  5. Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature

    OpenAIRE

    Kast Karin; Krause Mechthild; Schuler Markus; Friedrich Katrin; Thamm Barbara; Bier Andrea; Distler Wolfgang; Krüger Stefan

    2012-01-01

    Abstract Background Li-Fraumeni-Syndrome (LFS) is an autosomal-dominant, inherited tumour predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. Patients with LFS are at a high risk to develop early-onset breast cancer and multiple malignancies, among which sarcomas are the most common. A high incidence of childhood tumours and close to 100% penetrance has been described. Knowledge of the genetic status of the TP53 gene in these patients is critical not only...

  6. Osler-Weber-Rendu syndrome complicated with pulmonary arteriovenous malformation: A case report and review of literatures

    Directory of Open Access Journals (Sweden)

    Kuan-Yu Wang

    2015-01-01

    Full Text Available Osler-Weber-Rendu syndrome is a hereditary disease which is diagnosed by criterions of clinical symptoms and examinations. Here, we report a definite case of Osler-Weber-Rendu syndrome who had epistaxis, skin telangiectasia, and pulmonary arteriovenous malformation (PAVM. His initial clinical presentations were growing pulmonary nodule with cough and occasional chest pain. PAVM with rupture of aneurysm was diagnosed histologically after wedge resection of the nodule in his right lower lung.

  7. Retroperitoneal undifferentiated pleomorphic sarcoma having microsatellite instability associated with Muir-Torre syndrome: case report and review of literature.

    Science.gov (United States)

    Lee, Nathan; Luthra, Rajyalakshmi; Lopez-Terrada, Dolores; Wang, Wei-Lien; Lazar, Alexander J

    2013-08-01

    Muir-Torre syndrome represents a rare autosomal dominant familial cancer predisposition disorder defined by the occurrence of cutaneous sebaceous tumors and an internal malignancy, most commonly gastrointestinal carcinoma. Most examples of hereditary non-polyposis cancer syndrome (Lynch syndrome), including the Muir-Torre syndrome, are associated with microsatellite instability (MSI) and germline mutations in mismatch repair genes-most commonly MLH1 or MSH2. We present a 58-year-old man with Muir-Torre syndrome and a large retroperitoneal mass (14.3 cm in greatest dimension) encompassing the left adrenal gland. Sections showed a cellular malignant tumor composed of spindle cells with a high mitotic index and lacking morphologic evidence of adipocytic differentiation. It was weakly reactive for smooth muscle actin (SMA) and negative for desmin, CD117, CD31, CD34, S100 protein and pan-cytokeratin. Further immunohistochemical analysis revealed intact expression of MLH1 but loss of MSH2 in tumor nuclei. Compared to non-neoplastic tissue, the tumor showed MSI in five of seven dinucleotide markers. Fluorescence in situ hybridization (FISH) failed to reveal 12q15 amplification, effectively excluding dedifferentiated liposarcoma as a diagnostic consideration. This is a rare case of a patient with Muir-Torre syndrome who developed a related high-grade undifferentiated pleomorphic sarcoma as the associated internal malignancy. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Literature Review of Multicultural Instrumentation

    Science.gov (United States)

    Sarraj, Huda; Carter, Stacy; Burley, Hansel

    2015-01-01

    Demographic changes at the national level emphasize a critical need for multicultural education to be included as part of undergraduate education. This critical review of the literature examines 10 multicultural instruments that are suitable for use in K-12 or higher education institutions. This is a novel literature review in that it is the first…

  9. Writing Your Successful Literature Review

    Science.gov (United States)

    Rewhorn, Sonja

    2018-01-01

    Literature reviews are undertaken by academics and students to collate, analyse, and critique the ideas and arguments presented in a range of research studies in order to understand where research boundaries are located, to identify areas where knowledge is missing or contested, and where future research may be undertaken. Literature reviews are…

  10. Sex- and gender-related prevalence, cardiovascular risk and therapeutic approach in metabolic syndrome: A review of the literature.

    Science.gov (United States)

    Pucci, Giacomo; Alcidi, Riccardo; Tap, Lisanne; Battista, Francesca; Mattace-Raso, Francesco; Schillaci, Giuseppe

    2017-06-01

    Metabolic syndrome (MS), a cluster of metabolic abnormalities linked to insulin-resistance and abdominal obesity, is associated with an increased risk of Type II diabetes mellitus (DM) and cardiovascular (CV) disease. Its prevalence is high, affecting 20%-30% of the general population, and increases with age in a sex-specific manner: in fact, while below 50 years it is slightly higher in men, it reverses after 50 years. The pronounced age-related increase in the prevalence of MS in women occurs as the result of several factors, which may be classified into sex- and gender-related factors. Sex-related factors, linked to genetical and biological pathways, are mainly driven by hyperandrogenism, insulin-resistance, and the associated increase in abdominal obesity and HDL-cholesterol reduction occurring after menopause. Gender-related factors are sensitive to social and cultural behaviors, dietary habits and psychosocial factors. Women are more prone than men to develop MS in response to work stress and low socio-economic status. Sex and gender differences in the prevalence of MS may translate in different CV risk associated. Prospective studies suggest that the CV risk in women with MS is not only equal but also superior to the CV risk of men with MS. This difference is mostly attenuated when adjusting for the presence of overt DM. Despite similar odds for CV events, the number of CV events may be higher in elderly women because of the higher prevalence of MS compared to men in this age group. Men and women may also have a differential response to treatments for MS, such as lifestyle measures and weight loss. Recent observations suggest that men are better responders than women to non-pharmaceutical therapeutic strategies aimed at reducing the prevalence of MS, although this should be confirmed in large-scale studies. The present review describes the impact of sex and gender on the prevalence, clinical presentation, prognostic significance and treatment of the MS

  11. Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature

    Science.gov (United States)

    Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim

    2015-01-01

    First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. Since first classification from Feil in three categories (I – III) other classification systems have been advocated to describe the anomalies, predict the potential problems, and guide treatment decisions. Patients with Klippel-Feil syndrome usually present with the disease during childhood, but may present later in life. The challenge to the clinician is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform the appropriate workup for diagnosis. PMID:27275209

  12. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.

    Science.gov (United States)

    Verheij, Johanna B G M; Sival, Deborah A; van der Hoeven, Johannes H; Vos, Yvonne J; Meiners, Linda C; Brouwer, Oebele F; van Essen, Anthonie J

    2006-01-01

    Shah-Waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmoïd (Hirschsprung disease), and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness (Waardenburg syndrome). Mutations in the EDN, EDNRB and SOX10 genes can be found in patients with this syndrome. SOX10 mutations are specifically associated with a more severe phenotype called PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Neuronal expression of SOX10 occurs in neural crest cells during early embryonic development and in glial cells of the peripheral and central nervous systems during late embryonic development and in adults. We present a 4-year-old girl with the PCWH phenotype associated with a de novo nonsense mutation (S384X) in SOX10. Main clinical features were mental retardation, peripheral neuropathy, deafness, Hirschsprung disease, distal arthrogryposis, white hairlock, and growth retardation. She presented with hypotonia, developmental delay, reduced peripheral nerve conduction velocities, and radiologically assessed central hypomyelination. Subsequently, the formation of abnormal myelin within the central and peripheral nervous system was functionally and radiologically assessed. Children presenting with features of Waardenburg syndrome and neurological dysfunction should be tested for mutations in the SOX10 gene to enable diagnosis and counselling.

  13. Partial-thickness macular hole in vitreomacular traction syndrome: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Al Sabti Khalid

    2010-01-01

    Full Text Available Abstract Introduction Vitreomacular traction syndrome has recently been recognized as a distinct clinical condition. It may lead to many complications, such as cystoid macular edema, macular pucker formation, tractional macular detachment, and full-thickness macular hole formation. Case presentation We report a case of vitreomacular traction syndrome with eccentric traction at the macula and a partial-thickness macular hole in a 63-year-old Pakistani Punjabi man. The patient was evaluated using optical coherence tomography, and he underwent a successful pars plana vitrectomy. After the operation, his foveal contour regained normal configuration, and his visual acuity improved from 20/60 to 20/30. Conclusions Pars plana vitrectomy prevents the progression of a partial thickness macular hole in vitreomacular traction syndrome. The relief of traction by vitrectomy restores foveal anatomy and visual acuity in this condition.

  14. Severe group A streptococcal toxic shock syndrome presenting as primary peritonitis: a case report and brief review of the literature.

    Science.gov (United States)

    Tilanus, A M R; de Geus, H R H; Rijnders, B J A; Dwarkasing, R S; van der Hoven, B; Bakker, J

    2010-09-01

    Streptococcal toxic shock syndrome (STSS) can be defined as a septic shock syndrome resulting from infection with toxin-producing group A streptococci (GAS). STSS can sporadically present as primary peritonitis in previously healthy persons. Signs of STSS are non-specific and patients generally present with flu-like symptoms and can develop a life-threatening toxic shock syndrome in just a few hours. Diagnosis is mainly by a combination of physical examination, laboratory/culture results, and exclusion of surgical causes by means of imaging modalities and/or surgical exploration. GAS remain penicillin-sensitive and most are clindamycin-sensitive. Prompt supportive treatment, possibly together with high-dose intravenous immunoglobulins, is crucial. Copyright © 2009 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  15. Munchausen syndrome in the emergency department mostly difficult, sometimes easy to diagnose: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Vanderbruggen Nathalie

    2009-11-01

    Full Text Available Abstract Munchausen syndrome is a rare psychiatric disorder in which patients inflict on themselves an illness or injury for the primary purpose of assuming the sick role. Because these patients can present with many different complaints and clinical symptoms, diagnosis is often made at a later stage of hospitalisation. In contrast we report a case of a 40-year old woman very easy to diagnose with Munchausen syndrome. This trained nurse presented at our emergency department (ED complaining of abdominal pain. Interviewed by the medical trainee, she immediately confessed having put a knitting needle into her urethra four days earlier. She was not able to remove it anymore because it was beyond her reach. Abdominal X-ray confirmed the presence of the needle and a median laparotomy was performed to remove it. The diagnosis of Munchausen syndrome seemed immediately obvious in this case.

  16. Clinical and oral findings in an Afro-Brazilian family with Gorlin-Goltz syndrome: case series and literature review.

    Science.gov (United States)

    da Silva Pierro, Viviane Santos; Marins, Marcello Roter; Borges de Oliveira, Renata Cabral; Cortezzi, Wladimir; Janini, Maria Elisa; Maia, Lucianne Cople

    2015-01-01

    Gorlin-Goltz syndrome (GGS) seems to be unusual in black persons. The authors present an Afro-Brazilian family case report of GGS. The main complaint of the index case was a painless swelling of the left mandible, which was diagnosed as an odontogenic keratocyst. Further classical features of the Syndrome were present in this patient. Other two family members were diagnosed as cases of GGS and one of them presented 11 clinical findings characteristic of the syndrome. From the three cases reported, two of them presented five major diagnostic criteria for the GGS, and the diagnosis was only made because of an oral complaint. This case series emphasizes the importance of carefully examining the patient and close relatives for signs of GGS, even if they belong to an ethnic group in which this diagnosis is unusual. © 2014 Special Care Dentistry Association and Wiley Periodicals, Inc.

  17. Gastrointestinal Variant of Lemierre Syndrome: Fusobacterium nucleatum Bacteremia-Associated Hepatic Vein Thrombosis: a Case Report and Literature Review.

    Science.gov (United States)

    Zheng, Lin; Giri, Badri

    2016-01-01

    Fusobacterium nucleatum is a gram-negative bacillius commonly found in oropharynx and is traditionally associated with Lemierre syndrome, which is characterized by history of recent oropharyngeal infection, internal jugular vein thrombosis, and isolation of anaerobic pathogens, mainly Fuosobacterium necrophorum. However, recent evidence indicated that F. nucleatum is also a normal resident of human gut. Less than a dozen of case reports had linked F. nucleatum to gastrointestinal variant of Lemierre syndrome with portal vein thrombosis. However, F. nucleatum bacteremia-associated hepatic vein thrombosis is very rare. We report a case of a 73-year-old man who had hepatic vein thrombosis associated with F. nucleatum bacteremia, most likely from subclinical primary infection affecting the lower gastrointestinal tract. The underlying pathophysiology and treatment options are discussed here. With rapid increase in reporting of Lemierre syndrome, this case deserves particular attention from clinicians.

  18. Metastatic mediastinal mature teratoma with malignant transformation in a young man with an adenocarcinoma in a Klinefelter's syndrome: Case report and review of the literature.

    Science.gov (United States)

    Le Fèvre, C; Vigneron, C; Schuster, H; Walter, A; Marcellin, L; Massard, G; Lutz, P; Noël, G

    2018-04-16

    Malignant transformation of mediastinal mature teratoma is extremely rare and worsens the prognosis of the disease. Transformation can appear synchronously to or several years after the initial diagnosis. Clinical and radiological signs can orientate the clinician but the definitive diagnosis is obtained thanks to histology. An 11 year-old boy presented with a mediastinal mature teratoma and bone and pulmonary metastases. He received six cycles of chemotherapy combining etoposide, ifosfamide, cisplatin, followed by resection of a 16×14×9cm mediastinal mass. Karyotype analysis revealed the presence of an additional sex chromosome X (47 XXY) pathognomonic of Klinefelter's syndrome. Ten years later, sciatalgia revealed malignant transformation of a pre-existing sacral bone metastasis into gastrointestinal adenocarcinoma. The patient received four cycles of chemotherapy combining oxaliplatin, 5-fluorouracil and cetuximab. This treatment was followed by a complete resection of the sacral metastasis and completed with adjuvant irradiation of 54Gy in 30 daily fractions. Twelve months after the diagnosis of relapse, the patient remained alive without disease. To our knowledge, this is the first case of adenocarcinoma developed in bone metastases of a mediastinal mature teratoma in a boy with a Klinefelter's syndrome. We propose a review of the literature and an analysis of 20 others published cases of mediastinal teratoma with malignant transformation into adenocarcinoma. Copyright © 2018 Société française de radiothérapie oncologique (SFRO). Published by Elsevier SAS. All rights reserved.

  19. Pancreatitis, panniculitis and polyarthritis (PPP-) syndrome caused by post-pancreatitis pseudocyst with mesenteric fistula. Diagnosis and successful surgical treatment. Case report and review of literature.

    Science.gov (United States)

    Dieker, Wulf; Derer, Johannes; Henzler, Thomas; Schneider, Alexander; Rückert, Felix; Wilhelm, Torsten J; Krüger, Bernd

    2017-01-01

    Pancreatitis, panniculitis and polyarthritis syndrome is a very rare extra-pancreatic complication of pancreatic diseases. While in most cases this syndrome is caused by acute or chronic pancreatitis, we report a case of a 62-year-old man presenting with extensive intraosseous fat necrosis, polyarthritis and panniculitis caused by a post-pancreatitis pseudocyst with a fistula to the superior mesenteric vein and extremely high blood levels of lipase. This became symptomatic 2.5 years after an episode of acute pancreatitis and as in most cases abdominal symptoms were absent. Treatment by surgical resection of the pancreatic head with the pseudocyst and mesenteric fistula led to complete remission of all symptoms. A review of the literature revealed that all publications are limited to case reports. Most authors hypothesize that an unspecific damage can cause a secretion of pancreatic enzymes to the bloodstream leading to a systemic lipolysis and fat tissue necrosis, especially of subcutaneous tissue, bone marrow, inducing panniculitis, polyarthritis and osteonecrosis. Even if caused by an acute pancreatitis abdominal symptoms are often mild or absent in most cases leading to misdiagnosis and poor prognosis. While symptomatic treatment with NSAR and cortisone showed poor to moderate response, causal treatment can be successful depending on the underlying pancreatic disease. Copyright © 2017. Published by Elsevier Ltd.

  20. Pregnancy after oocyte donation in 45, X Turner syndrome women, complicated by gestational diabetes and polyhydramnios. Case report and mini-review of literature.

    Science.gov (United States)

    Czyzyk, Adam; Podfigurna-Stopa, Agnieszka; Katulski, Krzysztof; Breborowicz, Grzegorz H; Genazzani, Andrea R; Meczekalski, Blazej

    2016-08-01

    Patients suffering from Turner syndrome (TS) demonstrate characteristic clinical features, with a short stature and gonadal dysgenesis causing infertility in most patients. Spontaneous pregnancies in women with TS are quite rare and pregnancy outcomes involving an increased risk of miscarriage and stillbirths are observed. In this case report, we present a 28 years old pregnant woman with the diagnosis of TS. Due to hypergonadotrophic hypogonadism, she was proposed an in vitro fertilization (IVF) program with an oocyte donor from unrelated anonymous women. After the second transfer, implantation occurred. In the 24th week of gestation, gestational diabetes class 1 was diagnosed. In the 31st week of gestation, polyhydramnios was diagnosed, although other parameters were reassuring. Considering the polyhydramnios, along with the diagnosis of Turner syndrome in the mother, we decided to perform an elective cesarean section. Subsequently, a healthy term male was born. For most women with the diagnosis of TS, the only way to become pregnant is through oocyte donation. The aim of this work was to characterize the course of pregnancy in TS patient and review literature addressing this issue.

  1. Recurrent Thrombotic Thrombocytopenic Purpura-Like Syndrome as a Paraneoplastic Phenomenon in Malignant Peritoneal Mesothelioma: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Francisco Socola

    2012-01-01

    Full Text Available We report the case of an African American male with no significant past medical history presenting with recurrent, rapidly relapsing episodes of thrombotic thrombocytopenic purpura (TTP despite aggressive treatment with several lines of treatment. Incidentally, these episodes were associated with severe abdominal pain which eventually developed into acute abdomen and prompted exploratory laparotomy, revealing diffuse carcinomatosis with a tumor located on the left pelvis that was encasing the distal sigmoid colon. Pathology made a final diagnosis of peritoneal mesothelioma. TTP-like syndrome (TTP-LS has been described as a paraneoplastic phenomenon in several malignancies but never before in the setting of malignant mesothelioma. Paraneoplastic TTP-like syndrome has historically been associated with a dismal prognosis and particular clinical and laboratory abnormalities described in this paper. It is of utmost importance to make a prompt determination whether TTP is idiopathic or secondary to an underlying condition because of significant differences in their prognosis, treatment, and response. This paper also reviews the current literature regarding this challenging condition.

  2. Syndrome of proximal interstitial deletion 4p15: Report of three cases and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Chitayat, D.; Babul, R.; Teshima, I.E. [Univ. of Toronto, Ontario (Canada)] [and others

    1995-01-16

    We report on two boys and a girl with interstitial deletion in the short arm of chromosome 4 including the segment p15.2p15.33. All had normal growth with psychomotor retardation, multiple minor congenital anomalies, and a characteristic face distinct from that of the Wolf-Hirschhorn syndrome. One of the patients had congenitally enlarged penis. These patients resemble some of the previously reported patients with similar cytogenetic abnormalities and suggests the recognition of a specific clinical chromosome deletion syndrome. 12 refs., 6 figs., 1 tab.

  3. A case report of allergic granulomatosis and angiitis (Churg-Strauss syndrome) with a review of the literature.

    Science.gov (United States)

    Shibata, T; Perparim, K; Sumie, A; Ishii, T; Tomo, T; Tashiro, T; Nasu, M; Yasumori, R

    1993-01-01

    We report the case of a 67-year-old man with allergic granulomatosis and angiitis (AGA; Churg-Strauss syndrome) who developed nephrotic syndrome during his clinical course and demonstrated membranous nephropathy on renal necropsy by electron microscopy. Following the development of symptoms of bronchial asthma accompanied by eosinophilia and mononeuritis multiplex, transbronchial lung biopsy confirmed a diagnosis of AGA. The patient died of pneumonia and disseminated intravascular coagulopathy, but necropsy revealed severe tubulo-interstitial damage with neutrophilic infiltration and, in half of the glomeruli, mesangial proliferation with subepithelial dense deposits. This paper thus describes a rare case of AGA complicated by a secondary type of stage I membranous nephropathy.

  4. Rhinitis and pregnancy: literature review.

    Science.gov (United States)

    Caparroz, Fábio Azevedo; Gregorio, Luciano Lobato; Bongiovanni, Giuliano; Izu, Suemy Cioffi; Kosugi, Eduardo Macoto

    2016-01-01

    There is a controversy concerning the terminology and definition of rhinitis in pregnancy. Gestational rhinitis is a relatively common condition, which has drawn increasing interest in recent years due to a possible association with maternal obstructive sleep apnea syndrome (OSAS) and unfavorable fetal outcomes. To review the current knowledge on gestational rhinitis, and to assess its evidence. Structured literature search. Gestational rhinitis and rhinitis "during pregnancy" are somewhat similar conditions regarding their physiopathology and treatment, but differ regarding definition and prognosis. Hormonal changes have a presumed etiological role, but knowledge about the physiopathology of gestational rhinitis is still lacking. Management of rhinitis during pregnancy focuses on the minimal intervention required for symptom relief. As it has a great impact on maternal quality of life, both the otorhinolaryngologist and the obstetrician must be careful concerning the early diagnosis and treatment of gestational rhinitis, considering the safety of treatment measures and drugs and their current level of evidence. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  5. Rhinitis and pregnancy: literature review

    Directory of Open Access Journals (Sweden)

    Fábio Azevedo Caparroz

    2016-02-01

    Full Text Available ABSTRACT INTRODUCTION: There is a controversy concerning the terminology and definition of rhinitis in pregnancy. Gestational rhinitis is a relatively common condition, which has drawn increasing interest in recent years due to a possible association with maternal obstructive sleep apnea syndrome (OSAS and unfavorable fetal outcomes. OBJECTIVE: To review the current knowledge on gestacional rhinitis, and to assess its evidence. METHODS: Structured literature search. RESULTS: Gestational rhinitis and rhinitis "during pregnancy" are somewhat similar conditions regarding their physiopathology and treatment, but differ regarding definition and prognosis. Hormonal changes have a presumed etiological role, but knowledge about the physiopathology of gestational rhinitis is still lacking. Management of rhinitis during pregnancy focuses on the minimal intervention required for symptom relief. CONCLUSION: As it has a great impact on maternal quality of life, both the otorhinolaryngologist and the obstetrician must be careful concerning the early diagnosis and treatment of gestational rhinitis, considering the safety of treatment measures and drugs and their current level of evidence.

  6. Movement and Other Neurodegenerative Syndromes in Patients with Systemic Rheumatic Diseases: A Case Series of 8 Patients and Review of the Literature.

    Science.gov (United States)

    Menezes, Rikitha; Pantelyat, Alexander; Izbudak, Izlem; Birnbaum, Julius

    2015-08-01

    Patients with rheumatic diseases can present with movement and other neurodegenerative disorders. It may be underappreciated that movement and other neurodegenerative disorders can encompass a wide variety of disease entities. Such disorders are strikingly heterogeneous and lead to a wider spectrum of clinical injury than seen in Parkinson's disease. Therefore, we sought to stringently phenotype movement and other neurodegenerative disorders presenting in a case series of rheumatic disease patients. We integrated our findings with a review of the literature to understand mechanisms which may account for such a ubiquitous pattern of clinical injury.Seven rheumatic disease patients (5 Sjögren's syndrome patients, 2 undifferentiated connective tissue disease patients) were referred and could be misdiagnosed as having Parkinson's disease. However, all of these patients were ultimately diagnosed as having other movement or neurodegenerative disorders. Findings inconsistent with and more expansive than Parkinson's disease included cerebellar degeneration, dystonia with an alien-limb phenomenon, and nonfluent aphasias.A notable finding was that individual patients could be affected by cooccurring movement and other neurodegenerative disorders, each of which could be exceptionally rare (ie, prevalence of ∼1:1000), and therefore with the collective probability that such disorders were merely coincidental and causally unrelated being as low as ∼1-per-billion. Whereas our review of the literature revealed that ubiquitous patterns of clinical injury were frequently associated with magnetic resonance imaging (MRI) findings suggestive of a widespread vasculopathy, our patients did not have such neuroimaging findings. Instead, our patients could have syndromes which phenotypically resembled paraneoplastic and other inflammatory disorders which are known to be associated with antineuronal antibodies. We similarly identified immune-mediated and inflammatory markers of injury

  7. Acute-onset of superior mesenteric artery syndrome following surgical correction of scoliosis: Case report and review of literature

    Directory of Open Access Journals (Sweden)

    Christian Ovalle-Chao

    2017-04-01

    Full Text Available Superior mesenteric artery (SMA syndrome is a rare condition caused by compression of the third portion of duodenum by the angle between the superior mesenteric artery against the aorta. A rare presentation of SMA syndrome is following scoliosis repair and spinal fusion with a low incidence and most of these patients present with symptoms within one to two weeks or even more after the surgical repair. A high suspicion index after surgical correction of scoliosis with well-known risk factors (low BMI, low percentile of weight for height, and a high degree of change in the Cobb's angles can anticipate the postoperative diagnosis. Management has been described for postsurgical scoliosis repair with a late onset presentation of SMA syndrome with nutritional support with good success rates, but there is no data for best treatment management for acute onset especially when the surgical correction of the spine causes complete duodenal obstruction and a surgical intervention might be warranted. Here in, we present a 14 year-old boy with an acute 24-h postoperative SMA syndrome following surgical correction of scoliosis.

  8. The Academic and Psychosocial Impacts of Ehlers-Danlos Syndrome on Postsecondary Students: An Integrative Review of the Literature

    Science.gov (United States)

    Giroux, Catherine M.; Corkett, Julie K.; Carter, Lorraine M.

    2016-01-01

    Ehlers-Danlos Syndrome (EDS) is a complex, often invisible, connective tissue disorder that has arguably profound psychosocial and academic impact on postsecondary students. It is an underdiagnosed and misunderstood condition that is the focus of little research, particularly within the social sciences. Several factors influence the academic…

  9. Ogilvie's syndrome (acute colonic pseudo-obstruction): review of the literature and report of 6 additional cases

    International Nuclear Information System (INIS)

    Grassi, Roberto; Cappabianca, Salvatore; Porto, Annamaria; Montemarano, Emilio; De Rosa, Roberto; Sacco, Maurizio; Quantarelli, Mario; Di Mizio, Roberto

    2005-01-01

    Purpose: Ogilvie's syndrome is defined as an acute pseudo-obstruction of the colon, characterized by the signs, symptoms and radiological pattern of a large-bowel obstruction, but without a detectable organic cause. The aetiology of Ogilvie's syndrome appears to be multifactorial, with a series of possibly interacting pathogenic noxae all resulting in colon inactivity. Our study reports on six cases of Ogilvie's syndrome diagnosed and treated between 1997 and 2002. Materials and methods: From October 1997 to September 2002 we studied six patients affected by pseudo-obstruction of the colon. The pseudo-obstruction was recurrent in two cases. Acute dilatation of the colon without radiologically-detectable organic obstruction was the inclusion criterion for the study. Results: Plain abdominal radiography revealed colon dilatation that extended to the splenic flexure in three patients, to the hepatic flexure in two patients, and confined to the transverse colon in one patient. None of the patients showed air-fluid levels of the small intestine. Conclusion: The most relevant clinical finding in Ogilvie's syndrome is abdominal distension, which arises suddenly, has a progressive course and reaches massive levels. The first-line diagnostic investigation is plain abdominal radiography which shows extreme colon dilatation without air-fluid levels of the small intestine. In three of our patients, conservative therapy alone was able to restore normal conditions within five days; two patients required decompressive colonoscopy, and one patient died from cardio-circulatory arrest after 48 hours [it

  10. Nephrotic syndrome in The Netherlands: a population-based cohort study and a review of the literature

    NARCIS (Netherlands)

    Bakkali L, el; Rodrigues Pereira, R.; Kuik, D.J.; Ket, J.C.; Wijk, J.A. van

    2011-01-01

    Nephrotic syndrome (NS) is a clinical diagnosis with proteinuria, hypoalbuminaemia and oedema. NS is rare in children, and its incidence in The Netherlands is unknown. The aim of this study was to estimate the incidence of idiopathic NS in the Netherlands. All paediatric patients (age 0-18 years)

  11. The Posterior Fossa and Foreign Accent Syndrome : Report of Two New Cases and Review of the Literature

    NARCIS (Netherlands)

    Keulen, Stefanie; Mariën, Peter; van Dun, Kim; Bastiaanse, Roelien; Manto, Mario; Verhoeven, Jo

    Foreign accent syndrome is a rare motor speech disorder that causes patients to speak their language with a non-native accent. In the neurogenic condition, the disorder develops after lesions in the language dominant hemisphere, often affecting Broca's area, the insula, the supplementary motor area

  12. Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

    DEFF Research Database (Denmark)

    Hastings, Rob; Cobben, Jan-Maarten; Gillessen-Kaesbach, Gabriele

    2011-01-01

    Bohring-Opitz syndrome (BOS) is a rare congenital disorder of unknown etiology diagnosed on the basis of distinctive clinical features. We suggest diagnostic criteria for this condition, describe ten previously unreported patients, and update the natural history of four previously reported patients...

  13. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    Science.gov (United States)

    Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E; Douzgou, Sofia; Cooper, Nicola S; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H M; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S; Dowling, James J; Lev, Dorit L; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F; Brunner, Han G; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E; Siu, Victoria Mok; DDD study, The; Selber, Paulo; Leventer, Richard J; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

    2018-01-01

    Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. Methods Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of Drosophila-derived Pur-alpha homologues. Finally, we explored genotype-phenotype correlations by analysis of both recurrent mutations as well as mutation classes. Results We report mutations in PURA (purine-rich element binding protein A) in 32 individuals, the largest cohort described so far. Evaluation of clinical data, including 22 previously published cases, revealed that all have moderate to severe ID and neonatal-onset symptoms, including hypotonia (96%), respiratory problems (57%), feeding difficulties (77%), exaggerated startle response (44%), hypersomnolence (66%) and hypothermia (35%). Epilepsy (54%) and gastrointestinal (69%), ophthalmological (51%) and endocrine problems (42%) were observed frequently. Computational analysis of facial photographs showed subtle facial dysmorphism. No strong genotype-phenotype correlation was identified by subgrouping mutations into functional classes. Conclusion We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and

  14. [Autoimmune disorder secondary to DiGeorge syndrome: a long-term follow-up case report and literature review].

    Science.gov (United States)

    Xie, Y; Guo, J Q; Hua, Y; Zhao, W H; Sun, Q; Lu, X T

    2016-12-18

    DiGeorge syndrome is the most common chromosome microdeletion disease. The classical complications include congenital heart disease, hypothyroidism, immunodeficiency, facial abnormalities, and hypocalcemia. According to whether there is an absence or hypoplasia of the thymus, DiGeorge syndrome can be divided into two types, complete DiGeorge syndrome and partial DiGeorge syndrome. The patient was a female born with congenital heart disease, facial abnormalities and cleft palate. When the patient went to school, she had learning difficulty and had problems in communication and personal social behavior. Breath-holding occurred when she was 6 years old. She got infections about 2-3 times a year, which was easy to be cured each time. Chromosome microdeletion test of peripheral blood showed the classical 22q11.2 microdeletion, and no evidence showed that she has thymus absence, thus her disease was diagnosed as partial DiGeorge syndrome. When the patient was 6 years old, the blood routine test showed slight thrombocytopenia, and reexaminations after that indicated the similar result. When 9 years old, she was found with anemia and severe thrombocytopenia. At the age of 10, the patient was admitted to our hospital, complaining of petechia in the body and mucous of mouth. According to the various examinations results, doctors eventually considered the situation as an autoimmune disorder phenomenon. After being treated by pulse-dose methylprednisolone for three days, the bleeding ceased. Then the patient orally took prednisone acetate and pulse-dose cyclophosphamide, however the thrombocyte and hemoglobin levels had not been back to a normal range. But when the dose of prednisone acetate was reduced, the blood platelet count declined again while the hemoglobin kept normal. The long-term follow-up of this case lasted for more than 20 years. Until now, the patient is taking orally prednisone acetate as a maintainance treatment, and the anemia has been improved since, but

  15. Cavitating Mesenteric Lymph Node Syndrome in Association with Coeliac Disease and Enteropathy Associated T-Cell Lymphoma: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Olivia M. B. McBride

    2010-01-01

    Full Text Available Cavitating mesenteric lymph node syndrome (CMLNS is a rare and poorly understood complication of coeliac disease (CD, with only 37 cases reported in the literature. CD is an immune-mediated enteropathy, with alterations seen in the small bowel architecture on exposure to ingested gluten. Those who fail to respond to a strict gluten-free diet are termed to have refractory coeliac disease (RCD. This is associated with serious complications such as enteropathy-associated T-cell lymphoma (EATL. We present the case of a 71-year-old female investigated for weight loss and a palpable intraabdominal mass. Abdominal computed tomographic (CT scan showed multiple necrotic mesenteric lymph nodes. At operation, multiple cavitating mesenteric lymph nodes, containing milky fluid, were found. An incidental EATL was found at the terminal ileum, which was resected. The patient subsequently tested positive for CD. This is the second case report to document an association between CMLNS and EATL. This paper highlights the varied presentation of CD. In this case, the diagnosis of CD was made retrospectively after the complications were dealt with. This paper is followed by a review of relevant literature.

  16. Total body irradiation in a patient with fragile X syndrome for acute lymphoblastic leukemia in preparation for stem cell transplantation: A case report and literature review.

    Science.gov (United States)

    Collins, D T; Mannina, E M; Mendonca, M

    2015-10-01

    Fragile X syndrome (FXS) is a congenital disorder caused by expansion of CGG trinucleotide repeat at the 5' end of the fragile X mental retardation gene 1 (FMR1) on the X chromosome that leads to chromosomal instability and diminished serum levels of fragile X mental retardation protein (FMRP). Afflicted individuals often have elongated features, marfanoid habitus, macroorchidism and intellectual impairment. Evolving literature suggests the condition may actually protect from malignancy while chromosomal instability would presumably elevate the risk. Increased sensitivity to ionizing radiation should also be predicted by unstable sites within the DNA. Interestingly, in this report, we detail a patient with FXS diagnosed with acute lymphoblastic leukemia treated with induction followed by subsequent cycles of hyper-CVAD (cyclophosphamide, vincristine, doxorubicin, dexamethasone) with a complete response who then was recommended to undergo peripheral stem cell transplantation. The patient underwent total body irradiation (TBI) as a component of his conditioning regimen and despite the concern of his clinicians, developed minimal acute toxicity and successful engraftment. The pertinent literature regarding irradiation of patients with FXS is also reviewed. © 2015 Wiley Periodicals, Inc.

  17. Brain plasticity in Möbius syndrome after unilateral muscle transfer: case report and review of the literature.

    Science.gov (United States)

    Marre, Diego; Hontanilla, Bernardo

    2012-01-01

    Möbius syndrome is mainly characterized by bilateral facial palsy. Facial reanimation of these children is achieved by microsurgical techniques, namely free-gracilis muscle innervated by the masseteric nerve. Notorious commissure excursion and speech improvement are reported with such procedure. Several studies have demonstrated the presence of cortical reorganization after injury and repair of different segments of the body. Intensive training of a behaviorally relevant task is key in this process. A 4-year-old patient with complete bilateral facial palsy secondary to Möbius syndrome was operated with left hemiface free-gracilis muscle transplant innervated by the masseteric nerve and submitted for postoperative physiotherapy. Eight months later, bilateral movement was noted. Brain plasticity is likely to play an important role in smile restoration in patients with bilateral facial palsy. Intensive physiotherapy and psychosocial relevance of facial expression might be key in such phenomenon.

  18. Hemophilia presenting as compartment syndrome in the arm following venipuncture. A case report and review of the literature.

    Science.gov (United States)

    Nixon, R G; Brindley, G W

    1989-07-01

    A three-month-old male infant with undiagnosed hemophilia presented with fever and irritability. During the diagnostic evaluation a venipuncture in the right antecubital fossa led to hemorrhage and a compartment syndrome in the brachium. Differential diagnosis included osteomyelitis and septic arthritis but a 99technetium bone scan revealed only delayed washout of radioactive material from the right brachium without increased uptake. Despite elevated pressures in the muscle compartments of the right arm, surgical decompression was delayed until a complete blood coagulation profile was obtained. After replacement of deficient blood products, the compartment syndrome resolved without surgical decompression. Defective coagulation leading to hemorrhage into the muscle compartments of the arm resulted in a significant elevation of compartmental pressure. The unusual clinical presentation of the patient, as well as a lack of a positive family history, delayed the diagnosis of hemophilia and the subsequent replacement therapy.

  19. Prune belly syndrome with urethral hypoplasia and vesico-cutaneous fistula: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Osama M Sarhan

    2013-01-01

    Full Text Available Association between Prune belly syndrome (PBS and urethral hypoplasia is an unusual condition. It is usually fatal unless there is a communication between the fetal bladder and the amniotic sac. We report a case of PBS with urethral hypoplasia and congenital vesico-cutaneous fistula in a male neonate. Patient underwent cutaneous vesicostomy and was discharged for close follow up of his renal function and for future reconstruction.

  20. Prune belly syndrome with urethral hypoplasia and vesico-cutaneous fistula: A case report and review of literature.

    Science.gov (United States)

    Sarhan, Osama M; Al-Ghanbar, Mustafa S; Nakshabandi, Ziad M

    2013-10-01

    Association between Prune belly syndrome (PBS) and urethral hypoplasia is an unusual condition. It is usually fatal unless there is a communication between the fetal bladder and the amniotic sac. We report a case of PBS with urethral hypoplasia and congenital vesico-cutaneous fistula in a male neonate. Patient underwent cutaneous vesicostomy and was discharged for close follow up of his renal function and for future reconstruction.

  1. Guillian-Barre syndrome as the initial presentation of systemic lupus erythematosus--case report and review of literature.

    Science.gov (United States)

    Nadri, Quaid; Althaf, Mohammed Mahdi

    2015-01-01

    A number of neurological entities have been associated with systemic lupus erythematosus (SLE). Gullian-Barre syndrome (GBS) as a presenting feature of SLE remains uncommon with just 9 cases reported in the last half-century with the first case reported in 19641-9 (Table 1). We report a young female presenting with GBS in whom SLE and WHO class V lupus nephritis (LN) was subsequently diagnosed. The neurological symptoms partially responded to pulse methylprednisone, intravenous immunoglobulin (IVIG) and plasmapheresis.

  2. Successful treatment of Melkersson-Rosenthal syndrome with dapsone: a case report and review of the literature.

    Science.gov (United States)

    Emiroglu, Nazan; Su, Ozlem; Cengiz, Fatma Pelin; Onsun, Nahide

    2016-10-15

    Melkersson-Rosenthal syndrome (MRS) is a rare disease characterized by a triad of relapsing or persistent orofacial edema, recurrent lower motor neuron facial nerve palsy and fissured tongue. Acute, painless, non-erythematosus orofacial edema is observed in all patients. We report a case of a 13-year-old girl who presented with a 2-year history of swelling of the upper lip, facial paralysis, and fissured tongue; she was treated successfully with dapsone.

  3. [Severe dysphagia secondary to Plummer-Vinson Syndrome. Report of a case and review of the literature].

    Science.gov (United States)

    Pino Rivero, V; Marcos García, M; Trinidad Ruíz, G; González Palomino, A; Rejas Ugena, E; Trinidad Ramos, G; Blasco Huelva, A

    2004-01-01

    The Plummer-Vinson Syndrome is characterized by the presence of dysphagia, iron deficiency anemia and esophageal webs. We report the clinical case of a 67 year-female who was admitted with aphagia, glositis and important sialorrea. After performing a digestive endoscopy we found a double membrane located on Killiam region (upper esophageal tract) and proceeded, under general anestesia, to neumatic dilatation. The patient followed periodic controls yearly by Digestive Department and Internal Medicine with a significant clinical improvement.

  4. Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

    OpenAIRE

    Nemani, Lalita; Barik, Ramachandra; Patnaik, Amar Narayana; Mishra, Ramesh C; Rao, Amaresh M; Kapur, Pragati

    2014-01-01

    We report a case of type-A Coffin-Siris syndrome (CSS) with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure. The cardiac abnormalities included biventricular outflow tract obstruction, small atrial septal defect (ASD), subaortic ventricular septal defect, drainage of left superior venacava to left atrial appendage, and aortic arch anomaly. Patient underwent successful right vent...

  5. An Aggressive Plasmablastic Lymphoma of the Oral Cavity as Primary Manifestation of Acquired Immunodeficiency Syndrome: Case Report and Literature Review

    OpenAIRE

    Corti, Marcelo; Minué, Gonzalo; Campitelli, Ana; Narbaitz, Marina; Gilardi, Leonardo

    2015-01-01

    Introduction Plasmablastic lymphoma is a rare entity that was first described in the jaws and the oral cavity of patients with human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS). Plasmablastic lymphoma is considered as a diffuse, large, B-cell lymphoma with a unique phenotype and a predilection for the oral cavity. Objectives The authors describe a case of an aggressive plasmablastic lymphoma of the oral cavity as the primary manifestation of AIDS. Resumed W...

  6. Primary Mediastinal Synovial Sarcoma Presenting as Superior Vena Cava Syndrome: A Rare Case Report and Review of the Literature

    OpenAIRE

    Madabhavi, Irappa; Kataria, Pritam; Patel, Apurva; Revannasiddaiah, Swaroop; Anand, Asha; Panchal, Harsha; Parikh, Sonia; Sarkar, Malay; Modi, Gaurang; Kulkarni, Rahul; Shah, Sandip

    2015-01-01

    Primary mediastinal sarcomas are aggressive tumors with a very rare incidence. This report describes the case of a 35-year-old male patient who presented with acute symptoms of dyspnoea, facial puffiness, voice-hoarseness, and engorged neck veins. With the clinical picture consistent with the superior vena cava (SVC) syndrome, the patient was investigated with computed tomography of the chest. This revealed a large soft tissue density mass lesion compressing the SVC along with other critical ...

  7. Bruxism: A Literature Review

    OpenAIRE

    Shetty, Shilpa; Pitti, Varun; Satish Babu, C. L.; Surendra Kumar, G. P.; Deepthi, B. C.

    2010-01-01

    Bruxism is a movement disorder characterized by grinding and clenching of teeth. Awake bruxism is found more in females as compared to males while sleep bruxism shows no such gender prevalence. Etiology of bruxism can be divided into three groups psychosocial factors, peripheral factors and pathophysiological factors. Treatment modalities involve occlusal correction, behavioural changes and pharmacological approach. A literature search was performed using National Library of Medicine’s (NLM) ...

  8. The Posterior Fossa and Foreign Accent Syndrome: Report of Two New Cases and Review of the Literature.

    Science.gov (United States)

    Keulen, Stefanie; Mariën, Peter; van Dun, Kim; Bastiaanse, Roelien; Manto, Mario; Verhoeven, Jo

    2017-08-01

    Foreign accent syndrome is a rare motor speech disorder that causes patients to speak their language with a non-native accent. In the neurogenic condition, the disorder develops after lesions in the language dominant hemisphere, often affecting Broca's area, the insula, the supplementary motor area and the primary motor cortex. Here, we present two new cases of FAS after posterior fossa lesions. The first case is a 44-year-old, right-handed, Dutch-speaking man who suffered motor speech disturbances and a left hemiplegia after a pontine infarction. Quantified SPECT showed a bilateral hypoperfusion in the inferior lateral prefrontal and medial inferior frontal regions as well as a significant left cerebellar hypoperfusion. Further clinical investigations led to an additional diagnosis of brainstem cognitive affective syndrome which closely relates to Schmahmann's syndrome. The second patient was a 72-year-old right-handed polyglot English man who suffered a stroke in the vascular territory of the left posterior inferior cerebellar artery (PICA) and developed a foreign accent in his mother tongue (English) and in a later learnt language (Dutch). In this paper, we discuss how the occurrence of this peculiar motor speech disorder can be related to a lesion affecting the posterior fossa structures.

  9. 36-Year-Old Female with Catastrophic Antiphospholipid Syndrome Treated with Eculizumab: A Case Report and Review of Literature

    Directory of Open Access Journals (Sweden)

    Marianna Strakhan

    2014-01-01

    Full Text Available Catastrophic antiphospholipid syndrome (CAPS is a rare but potentially life-threatening condition characterized by diffuse vascular thrombosis, leading to multiple organ failure developing over a short period of time in the presence of positive antiphospholipid antibodies (aPL. CAPS is a severe form of antiphospholipid syndrome, developing in about 1% of cases of classic antiphospholipid syndrome, manifesting as microangiopathy, affecting small vessels of multiple organs. It is acute in onset, with majority of cases developing thrombocytopenia and less frequently hemolytic anemia and disseminated intravascular coagulation. Lupus anticoagulant and anticardiolipin antibodies have been reported as predominant antibodies associated with CAPS. Treatment options often utilized in CAPS include anticoagulation, steroids, plasma exchange, cyclophosphamide therapy, and intravenous immunoglobulin therapy. Even though the reported incidence of this condition is considered to be low, the mortality rate is approaching 50%. The high rate of mortality should warrant greater awareness among clinicians for timely diagnosis and treatment of this life-threatening condition. Studies have shown that complement activation plays a key role in the pathogenesis of aPL mediated thrombosis in CAPS. We report a case of a 36-year-old female admitted with clinical and laboratory findings consistent with CAPS successfully treated with eculizumab, a terminal complement inhibitor.

  10. Primary Nephrotic Syndrome in Adults as a Risk Factor for Pulmonary Embolism: An Up-to-Date Review of the Literature

    Directory of Open Access Journals (Sweden)

    Aibek E. Mirrakhimov

    2014-01-01

    Full Text Available Patients with nephrotic syndrome are at an increased risk for thrombotic events; deep venous thrombosis, renal vein thrombosis, and pulmonary embolism are quite common in patients with nephrotic syndrome. It is important to note that nephrotic syndrome secondary to membranous nephropathy may impose a greater thrombotic risk for unclear reasons. Increased platelet activation, enhanced red blood cell aggregation, and an imbalance between procoagulant and anticoagulant factors are thought to underlie the excessive thrombotic risk in patients with nephrotic syndrome. The current scientific literature suggests that patients with low serum albumin levels and membranous nephropathy may benefit from primary prophylactic anticoagulation. A thorough approach which includes accounting for all additional thrombotic risk factors is, therefore, essential. Patient counseling regarding the pros and cons of anticoagulation is of paramount importance. Future prospective randomized studies should address the question regarding the utility of primary thromboprophylaxis in patients with nephrotic syndrome.

  11. Public dialogues on flood risk communication: Literature review : Literature review

    NARCIS (Netherlands)

    Orr, Paula; Forrest, Steven; Brooks, Katya; Twigger-Ross, Clare

    2015-01-01

    This literature review summarises the state of knowledge on communicating the risk of flooding to the public as of January 2014. The review considers how different audiences respond to risk communication and the factors which influence that response. The current systems and techniques for flood risk

  12. [Megalencephaly: a report of 4 children including a previously undescribed congenital syndrome and review of the literature (author's transl)].

    Science.gov (United States)

    Hoshino, A

    1981-04-01

    The author recently examined four children of clinical macrocephaly. Their occipitofrontal head circumference was exceeded 2 standard deviations above the mean for chronological age. Megalencephaly with normal ventricular system was proved by computerized tomography or pneumoencephalography. The purpose of this paper is to report four cases with various clinical aspects and to discuss the similarity of these patients. Additionally, previously reported syndromes with macrocephaly and multiple hemangiomas were presented in Table 4. Case 1 A 6 year-old was accidentally admitted because of infectious disease. His development was uneventful. Case 2. A 2 year-old boy was admitted because of delayed speech and delayed walking. He had no neonatal complications and no history of convulsions. Case 3. A 4 year-old boy was accidentally admitted because of abdominal pain. His physical examination exhibited diffuse hemangiomatous lesions on the right side of face, neck and chest, and congenital glaucoma. He was diagnosed as Sturge-Weber anomalad at the age of 2 years. Case 4. A 3 year-old girl was admitted because of distended abdomen. She had widely spread strawberry hemangioma on her right abdominal wall and blue and brownish phacomatosis on her back. GI tract examination showed lymphoid hyperplasia of the colon. Clinical profiles are presented in Table 3. These patients were different from Sotos syndrome (cerebral gigantism), but had the following similar findings besides megalencephaly-1) large birth weight (mean; 3961 g), 2) hypotonic and wasting muscles, 3) clumsy in walking and running, 4) no hereditary tendency. The Cases 1, 3 and 4 had normal mental development. The Case 4 was seemed as a previously undescribed clinical syndrome in which the principal features were megalencephaly, distended abdomen, hypotonic and wasting muscles, lymphoid hyperplasia of the colon, retroperitoneal cavernous hemangioma, and cutaneous hemangioma and neuroma. The relationship between

  13. Brain Malformations Associated with Knobloch SyndromeReview of Literature, Expanding Clinical Spectrum and Identification of Novel Mutations

    Science.gov (United States)

    Caglayan, Ahmet Okay; Baranoski, Jacob F.; Aktar, Fesih; Han, Wengi; Tuysuz, Beyhan; Guzel, Aslan; Guclu, Bulent; Kaymakcalan, Hande; Aktekin, Berrin; Akgumus, Gozde Tugce; Murray, Phillip B.; Omay, E. Zeynep Erson; Caglar, Caner; Bakircioglu, Mehmet; Sakalar, Yildirim Bayezit; Guzel, Ebru; Demir, Nihat; Tuncer, Oguz; Senturk, Senem; Ekici, Baris; Minja, Frank J.; Šestan, Nenad; Yasuno, Katsuhito; Bilguvar, Kaya; Caksen, Huseyin; Gunel, Murat

    2014-01-01

    BACKGROUND Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic encephalocele, have not typically been considered a component of the disease phenotype. METHODS Four patients originally presented for genetic evaluation of symptomatic structural brain malformations. Whole-genome genotyping, whole-exome sequencing, and confirmatory Sanger sequencing were performed. Using immunohistochemical analysis, we investigated the protein expression pattern of COL18A1 in the mid-fetal and adult human cerebral cortex and then analyzed the spatial and temporal changes in the expression pattern of COL18A1 during human cortical development using the Human Brain Transcriptome database. RESULTS We identified two novel homozygous deleterious frame-shift mutations in the COL18A1 gene. Upon further investigation of these patients and their families, we found that many exhibited certain characteristics of Knobloch syndrome, including pronounced ocular defects. Our data strongly support an important role for COL18A1 in brain development and this report contributes to an enhanced characterization of the brain malformations that can result from deficiencies of collagen XVIII. CONCLUSIONS This case series highlights the diagnostic power and clinical utility of whole-exome sequencing technology – allowing clinicians and physician scientists to better understand the pathophysiology and presentations of rare diseases. We suggest that patients who are clinically diagnosed with Knobloch syndrome and/or found to have COL18A1 mutations via genetic screening should be investigated for potential structural brain abnormalities even in the absence of encephaloceles. PMID:25456301

  14. Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature

    DEFF Research Database (Denmark)

    Yasmeen, Saiqa; Melchior, Linea; Bertelsen, Birgitte

    2013-01-01

    Tourette syndrome (TS) is a complex neuropsychiatric disorder characterized by multiple motor and vocal tics and is often accompanied by comorbidities such as attention deficit hyperactivity disorder and obsessive-compulsive disorder. The complex etiology of TS and its co-occurrence with other...... disorders impedes linking genetic changes with disease segregation. One of the few genes that has been linked to TS is the SLITRK1 (Slit and Trk-like 1) gene, where four variations have been suggested as possible disease-associated changes. One of these variations, which has been reported in six unrelated...

  15. Anaesthetic management of emergency caesarean section in a patient with Noonan's syndrome--case report and literature review.

    Science.gov (United States)

    Magboul, M M

    2000-10-01

    Patients with Noonan's syndrome present a multiplicity of challenges to the anaesthetist, particularly with regard to cardiovascular, spinal, and airway abnormalities. Anaesthetist may have to deal with an increasing number of these patients presenting to anaesthesia departments requesting analgesia and anaesthesia for surgery of labour. Early detection and planing between obstetricians, midwives and anaesthetists will help successful management of these patients. Alternative methods of management should be discussed fully with patients. Regional anaesthesia, although may be difficult in these patients, is a safe alternative compared to expensive general anaesthesia.

  16. Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

    Directory of Open Access Journals (Sweden)

    Lalita Nemani

    2014-01-01

    Full Text Available We report a case of type-A Coffin-Siris syndrome (CSS with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure. The cardiac abnormalities included biventricular outflow tract obstruction, small atrial septal defect (ASD, subaortic ventricular septal defect, drainage of left superior venacava to left atrial appendage, and aortic arch anomaly. Patient underwent successful right ventricular infundibular resection, subaortic membrane resection, closure of atrial and ventricular septal defect, rerouting left superior vena cava to left pulmonary artery and aortic valve replacement.

  17. Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature.

    Science.gov (United States)

    Nemani, Lalita; Barik, Ramachandra; Patnaik, Amar Narayana; Mishra, Ramesh C; Rao, Amaresh M; Kapur, Pragati

    2014-09-01

    We report a case of type-A Coffin-Siris syndrome (CSS) with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure. The cardiac abnormalities included biventricular outflow tract obstruction, small atrial septal defect (ASD), subaortic ventricular septal defect, drainage of left superior venacava to left atrial appendage, and aortic arch anomaly. Patient underwent successful right ventricular infundibular resection, subaortic membrane resection, closure of atrial and ventricular septal defect, rerouting left superior vena cava to left pulmonary artery and aortic valve replacement.

  18. Acute Respiratory Distress Syndrome after Treatment of Metastatic Prostate Cancer with Taxotere: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Ali Raufi

    2015-01-01

    Full Text Available Prostate cancer is the most common cancer in men. Docetaxel is a common chemotherapeutic agent that has proven its efficacy in the treatment of patients with both castration sensitive and resistant metastatic prostate cancer. We report a case of acute respiratory distress syndrome (ARDS in a patient with metastatic prostate cancer treated with docetaxel (Taxotere. ARDS is very rare but life threatening complication of docetaxel which requires aggressive supportive care and close monitoring. Better awareness and prompt diagnosis of this treatment related ARDS will improve the effectiveness and outcome of its management.

  19. Pediatric patient with systemic lupus erythematosus & congenital acquired immunodeficiency syndrome: An unusual case and a review of the literature

    Directory of Open Access Journals (Sweden)

    Rezaee Fariba

    2008-05-01

    Full Text Available Abstract The coexistence of systemic lupus erythematosus (SLE in patients with congenital human immunodeficiency virus (HIV infection is rare. This is a case report of a child diagnosed with SLE at nine years of age. She initially did well on non-steroidal anti-inflammatory agents, hydroxychloroquine, and steroids. She then discontinued her anti-lupus medications and was lost to follow-up. At 13 years of age, her lupus symptoms had resolved and she presented with intermittent fevers, cachexia, myalgias, arthralgias, and respiratory symptoms. Through subsequent investigations, the patient was ultimately diagnosed with congenitally acquired immunodeficiency syndrome (AIDS.

  20. Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature

    International Nuclear Information System (INIS)

    Kast, Karin; Krause, Mechthild; Schuler, Markus; Friedrich, Katrin; Thamm, Barbara; Bier, Andrea; Distler, Wolfgang; Krüger, Stefan

    2012-01-01

    Li-Fraumeni-Syndrome (LFS) is an autosomal-dominant, inherited tumour predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. Patients with LFS are at a high risk to develop early-onset breast cancer and multiple malignancies, among which sarcomas are the most common. A high incidence of childhood tumours and close to 100% penetrance has been described. Knowledge of the genetic status of the TP53 gene in these patients is critical not only due to the increased risk of malignancies, but also because of the therapeutic implications, since a higher rate of radiation-induced secondary tumours in these patients has been observed. We report a patient with LFS harbouring heterozygous, pathogenic TP53 germline mutation, who was affected by four synchronous malignancies at the age of 40: a myxofibrosarcoma of the right upper arm, bilateral breast cancer and a periadrenal liposarcoma. Radiological treatments and a surveillance program were adjusted according to recommendations for LFS patients. Management of tumour treatment of patients with LFS is different to the general population because of their risk for secondary cancers in the radiation field. Screening procedures should take a possibly elevated risk for radiation induced cancer into account

  1. Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Kast Karin

    2012-06-01

    Full Text Available Abstract Background Li-Fraumeni-Syndrome (LFS is an autosomal-dominant, inherited tumour predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. Patients with LFS are at a high risk to develop early-onset breast cancer and multiple malignancies, among which sarcomas are the most common. A high incidence of childhood tumours and close to 100% penetrance has been described. Knowledge of the genetic status of the TP53 gene in these patients is critical not only due to the increased risk of malignancies, but also because of the therapeutic implications, since a higher rate of radiation-induced secondary tumours in these patients has been observed. Case report We report a patient with LFS harbouring heterozygous, pathogenic TP53 germline mutation, who was affected by four synchronous malignancies at the age of 40: a myxofibrosarcoma of the right upper arm, bilateral breast cancer and a periadrenal liposarcoma. Radiological treatments and a surveillance program were adjusted according to recommendations for LFS patients. Conclusion Management of tumour treatment of patients with LFS is different to the general population because of their risk for secondary cancers in the radiation field. Screening procedures should take a possibly elevated risk for radiation induced cancer into account.

  2. Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.

    Science.gov (United States)

    Kast, Karin; Krause, Mechthild; Schuler, Markus; Friedrich, Katrin; Thamm, Barbara; Bier, Andrea; Distler, Wolfgang; Krüger, Stefan

    2012-06-06

    Li-Fraumeni-Syndrome (LFS) is an autosomal-dominant, inherited tumour predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. Patients with LFS are at a high risk to develop early-onset breast cancer and multiple malignancies, among which sarcomas are the most common. A high incidence of childhood tumours and close to 100% penetrance has been described. Knowledge of the genetic status of the TP53 gene in these patients is critical not only due to the increased risk of malignancies, but also because of the therapeutic implications, since a higher rate of radiation-induced secondary tumours in these patients has been observed. We report a patient with LFS harbouring heterozygous, pathogenic TP53 germline mutation, who was affected by four synchronous malignancies at the age of 40: a myxofibrosarcoma of the right upper arm, bilateral breast cancer and a periadrenal liposarcoma. Radiological treatments and a surveillance program were adjusted according to recommendations for LFS patients. Management of tumour treatment of patients with LFS is different to the general population because of their risk for secondary cancers in the radiation field. Screening procedures should take a possibly elevated risk for radiation induced cancer into account.

  3. Drug reaction with eosinophilia and systemic symptoms associated with carbamazepine (DRESS syndrome – case report and literature review

    Directory of Open Access Journals (Sweden)

    Kamila Ociepa

    2016-10-01

    Full Text Available Introduction. Drug reaction with eosinophilia and systemic symptoms (DRESS is a serious, potentially life-threatening syndrome with skin lesions, internal organ involvement and eosinophilia. Objective . To present the case of a 35-year-old woman with DRESS syndrome after 6 weeks of treatment with the anticonvulsant drug carbamazepine. Case report . A 35-year-old woman, suffering from depression, was admitted to hospital after a single exposure to artificial ultraviolet radiation during carbamazepine therapy. Generalized maculopapular eruptions and laboratory blood test abnormalities were recognized. After withdrawal of the causative drug and treatment with corticosteroids and antihistaminic preparations, the skin lesions disappeared and the values of laboratory blood tests improved. Conclusions . Due to the high rate of mortality in DRESS, a quick diagnosis is of crucial value. Most important is detailed history taking, immediate cessation of the causative drug, and in severe cases therapy with systemic corticosteroids. Proper diagnosis reduces the rate of fatal outcome of the disease, which is estimated at 10–38%.

  4. PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22: LITERATURE REVIEW AND 2 CASE REPORTS

    Directory of Open Access Journals (Sweden)

    M. Yu. Bobylova

    2016-01-01

    Full Text Available Phelan–McDermid syndrome (PMS is a microdeletion syndrome associated with the loss of terminal segments in chromosome 22, sometimes with development of the ring chromosome 22. Clinical manifestations of PMS include epilepsy and mental disorders (autism, mental deficiency, lack of expressive speech, sleep disorders, mood disorders since adolescence. Neurologic status is characterized by diffuse muscle hypotonia since birth, delayed development of motor skills, functional gastrointestinal disorder. Children over 1 year develop autism spectrum disorders; they have a specific awkward gait with frequent falls and decreased sensitivity to pain. Severe delay in the development of verbal intelligence (when expressive speech is absent or represented by individual words are typical for these patients. Epileptiform activity appearing in a form of benign epileptiform discharges of childhood is usually diagnosed in all PMS patients; epileptic seizures are documented in half of the cases. The disease is characterized by secondarily generalized, age-related epileptic seizures with oral-pharyngeal manifestations. In some cases epilepsy becomes drug-resistant. Current article describes 2 clinical cases of PMS.

  5. Pharmacoeconomic considerations in treating iron overload in patients with β-thalassaemia, sickle cell disease and myelodysplastic syndromes in the US: a literature review.

    Science.gov (United States)

    Zhang, Bin; Donga, Prina Z; Corral, Mitra; Sasane, Medha; Miller, Jeffrey D; Pashos, Chris L

    2011-06-01

    Patients with β-thalassaemia, sickle cell disease (SCD) and myelodysplastic syndromes (MDS) require chronic blood transfusions, which can lead to iron overload and substantial morbidity and mortality. To reduce the excess iron and its deleterious effects, available iron chelation therapy (ICT) in the US includes oral deferasirox or infusional deferoxamine (DFO). The aim of this study was to review and synthesize the available pharmacoeconomic evidence on ICT in patients with β-thalassaemia, SCD and MDS in the US. We systematically identified and reviewed pharmacoeconomic studies of ICT in patients with β-thalassaemia, SCD and MDS that either were published in MEDLINE-indexed, English-language journals from 1999 to 2009, or appeared in medical society websites and scientific meeting abstracts. We assessed available cost-of-illness, cost-of-treatment, cost-consequence, cost-effectiveness, utility and patient-satisfaction studies. The majority of the 20 identified studies assessed cost of treatment, mainly focusing on acquisition and administration costs of ICTs. Gaps in the published literature include current data on direct medical costs for patients with MDS, direct medical costs associated with complications of iron overload, direct non-medical costs, indirect costs and patient utilities. Different underlying model assumptions, methodologies and comparators were found in the cost-effectiveness studies, which yielded a broad range of incremental cost-effectiveness ratios for different ICTs. Comprehensive cost-of-illness studies are needed to address data gaps in the published literature regarding the economic burden of iron overload. Comparative-effectiveness studies that evaluate clinical, economic and patient-reported outcomes would help the medical community to better understand the value of different ICTs.

  6. Treatment management during the adolescent transition period of girls and young women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS: a systematic literature review

    Directory of Open Access Journals (Sweden)

    Anke Wagner

    2016-11-01

    Full Text Available Abstract Introduction In health services research, there is a special emphasis on the transition from adolescence into adulthood. During this transition period, adolescents change from pediatric to adult medical care. This process must be carefully structured, particularly when special medical care is required. Challenges and difficulties become apparent particularly in the case of rare diseases. This is increasingly so when the rare disease affects the adolescence-specific development of patients, such as Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS, also known as Müllerian agenesis. Methods A systematic literature review identified the care requirements of girls and young women with MRKHS, as well as studies of medical care during the adolescent transition period for various other diseases. This investigation was carried out in the years 2012 and 2013, and was updated in 2014/2015. In addition, the reference lists of the identified studies were reviewed. Results Nine publications on MRKHS and ten publications on the transition from adolescence to adulthood were included. Medical care requirements and measures were identified for the following areas: diagnosis during adolescence and organization of medical care, reactions to the diagnosis, functional infertility, psychological stress and threat to self-image, contact with others, and dealing with MRKHS coping strategies. Discussion There is still a great demand for research in the area of care during the transition period from adolescence into adulthood, particularly for rare diseases. The recommendations for treating MRKHS patients derived from the literature should be implemented and evaluated with regard to their effectiveness.

  7. Laryngeal sarcoidosis: literature review

    OpenAIRE

    Moraes, Bruno Teixeira de; Neves, Luciano Rodrigues; Brasil, Osíris de Oliveira Camponês do; Pedroso, José Eduardo de Sá; Melo Junior, Jose Elson Santiago de

    2011-01-01

    INTRODUCTION: Laryngeal sarcoidosis is a granulomatous disease representing a challenge as regards diagnosis and treatment. METHOD: In this review, all aspects of the disease are involved, including etiology, clinical manifestations in adults and children, diagnosis, and treatment, by searching through Medline, Lilacs and Scielo databases, as well as English and Portuguese articles published from 1973 to 2008. FINAL COMMENTS: Despite the breakthroughs in its diagnosis and treatment, sarcoidos...

  8. Mediastinal mixed germ cell tumor in an infertile male with Klinefelter syndrome:A case report and literature review

    Directory of Open Access Journals (Sweden)

    Dinesh Pradhan

    2015-01-01

    Full Text Available Klinefelter syndrome (KS is a well-documented abnormality of the sex chromosome, with an incidence of 1 in 600 newborn males. It is characterized by a 47, XXY or a mosaic karyotype, hypergonadotrophic hypogonadism, infertility, reduced body hair, gynecomastia, and tall stature. Different neoplasms such as breast, testicular, and lymphoreticular malignancies may occur in 1% to2% of the cases with KS. Herein we describe a case of mediastinal mixed germ cell tumor (GCT in a 40-year-old male with KS. Interestingly, this case also had mitral valve prolapse, and an incidental papillary microcarcinoma of the thyroid gland. In view of the presence of pulmonary nodules, antemortem differential diagnoses considered were mycobacterial infection, lymphoma, thymic carcinoma, and a primary/metastatic neoplasm of the lung. As GCT was not considered, the serum markers of a GCT were not performed. The diagnosis of this rare mediastinal mixed GCT with KS was made at autopsy.

  9. Surgical management of superior vena cava syndrome following pacemaker lead infection: a case report and review of the literature.

    Science.gov (United States)

    Kokotsakis, John; Chaudhry, Umar A R; Tassopoulos, Dimitris; Harling, Leanne; Ashrafian, Hutan; Vernandos, Michail; Kanakis, Meletis; Athanasiou, Thanos

    2014-06-19

    Superior vena cava (SVC) syndrome is a known but rare complication of pacemaker lead implantation, accounting for approximately less than 0.5% of cases. Its pathophysiology is due to either infection or endothelial mechanical stress, causing inflammation and fibrosis leading to thrombosis, and therefore stenosis of the SVC. Due to the various risks including thrombo-embolic complications and the need to provide symptomatic relief, medical and surgical interventions are sought early. We present the case of a 48-year Caucasian male who presented with localised swelling and pain at the site of pacemaker implantation. Inflammatory markers were normal, but diagnostic imaging revealed three masses along the pacemaker lead passage. A surgical approach using cardiopulmonary bypass and circulatory arrest was used to remove the vegetations. Culture from the vegetations showed Staphylococcus epidermidis. The technique presented here allowed for safe and effective removal of both the thrombus and infected pacing leads, with excellent exposure and minimal post-procedure complications.

  10. Pseudo-Bartter’s syndrome in patients with cystic fibrosis: A case series and review of the literature

    Directory of Open Access Journals (Sweden)

    Vilotijević-Dautović Gordana

    2015-01-01

    Full Text Available Introduction. Pseudo-Bartter syndrome (PBS is characterized by hyponatremic, hypochloremic metabolic alkalosis that mimics Bartter syndrome but with no pathology in the renal tubules. We present five patients with cystic fibrosis (CF and PBS. Cases Outline. Four children aged between three and five-and-one-half months with previously diagnosed CF and one aged 17 months with previously undiagnosed disease, were hospitalized during the summer season, with severe dehydration, oliguria, apathy and adynamia. Additionally, one of them had an ileostomy due to meconium ileus after birth. All children were on a diet without additional salt intake. Laboratory analysis on admission showed hyponatremia (115-133 mmol/L, mean 122.4 mmol/L, high plasma renin activity (229-500 pg/ml, mean 324 pg/ml and metabolic alkalosis (pH 7.5-7.6, mean 7.56 in all the patients, and in four of them high blood level of aldosterone (74-560 pg/ml, mean 295.9 pg/ml, hypokalemia (2.3-2.8 mmol/L, mean 2.6 mmol/L, hypochloremia (59-71 mmol/L, mean 66 mmol/L and low urinary sodium (5-12 mmol/L, mean 9 mmol/L. After intravenous rehydration followed by additional use of sodium and chloride in mean dosis of 1.78 mmol/kg per day, all the patients made a complete recovery. With advice for additional use of salt in the mentioned amount, the patients were discharged from the hospital. Conclusion. PBS is one of CF complications, especially in infants and young children in situations accompanied by increased sweating and/or other causes of additional loss of sodium and chlorine. Sometimes, as was the case with one of our patients, PBS may be the initial presentation form of the disease.

  11. An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature.

    Science.gov (United States)

    Tzetis, Maria; Stefanaki, Kalliopi; Syrmou, Areti; Kosma, Konstantina; Leze, Eleni; Giannikou, Krinio; Oikonomakis, Vasilis; Sofocleous, Christalena; Choulakis, Michael; Kolialexi, Aggeliki; Makrythanasis, Periklis; Kitsiou-Tzeli, Sophia

    2012-07-01

    BACKGROUND Cat-Eye syndrome (CES) with teratoma has not been previously reported. We present the clinical and molecular findings of a 9-month-old girl with features of CES and also a palpable midline neck mass proved to be an extragonadal mature teratoma, additionally characterized by array comparative genomic hybridization (aCGH). RESULTS High resolution oligonucleotide-based aCGH confirmed that the supernumerary marker chromosome (SMC) derived from chromosome 22, as was indicated by molecular cytogenetic analysis with fluorescence in situ hybridization (FISH). Additionally, aCGH clarified the size, breakpoints, and gene content of the duplication (dup 22q11.1q11.21; size:1.6 Mb; breakpoints: 15,438,946-17,041,773; hg18). The teratoma tissue was also tested with aCGH, in which the CES duplication was not found, but the analysis revealed three aberrations: del Xp22.3 (108,864-2788,689; 2.7 Mb hg18), dup Yp11.2 (6688,491-7340,982; 0.65 Mb, hg18), and dup Yq11.2q11.23 (12,570,853-27,177,133; 14.61 Mb, hg18). These results indicated 46 XY (male) karyotype of the teratoma tissue, making this the second report of mature extragonadal teratoma in a female neonate, probably deriving from an included dizygotic twin of opposite sex (fetus in fetu). CONCLUSIONS Our findings extend the phenotypic spectrum of CES syndrome, a disorder with clinical variability, pointing out specific dosage-sensitive genes that might contribute to specific phenotypic features. Copyright © 2012 Wiley Periodicals, Inc.

  12. Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature.

    Science.gov (United States)

    Improda, Nicola; Capalbo, Donatella; Cirillo, Emilia; Cerbone, Manuela; Esposito, Andrea; Pignata, Claudio; Salerno, Mariacarolina

    2014-11-01

    Autoimmune polyendocrine syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy, is a rare autosomal recessive disease due to pathogenic variants in the AIRE gene. Classic features of the syndrome are mucocutaneous candidiasis, chronic idiopathic hypoparathyroidism and Addison disease. However, other endocrine and non-endocrine components, may occur with a different prevalence. In addition to ectodermal features, which are quite common features of the disease, APS 1 patients may experience other types of skin alterations, such as vasculitic skin rash. An early diagnosis of APS 1 can be very challenging, due to the high clinical heterogeneity, and a considerable delay may occur between the appearance of symptoms and the diagnosis. We report on a girl affected by APS 1 who presented with cutaneous vasculitis when she was seven-months old, some years before the onset of the common components of the disease. Clinical picture of APS 1 may be characterized by isolated rare or atypical autoimmune or immune-mediated manifestations, even years before the onset of the classic components of the disease. Among these uncommon features, skin rashes of variable form and duration may occur, most of them being associated with histopathological features of vasculitis. Our case suggests that cutaneous vasculitis may represent a first sign of APS 1. The clinical significance of cutaneous vasculitis in the context of APS 1 is still debated. It may represent a rare, unusual, early component of the disease or a clinical manifestation secondarily related to the typical APS 1 components (i.e. autoimmune thyroid disease), which are frequently associated with rheumatologic-like signs and symptoms. Alternatively, it may be the expression of an independent disease co-occuring with APS 1. In conclusion, our case suggests that children presenting with unexplained vasculitic skin rash should be followed-up in order to early identify APS 1.

  13. Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.

    Science.gov (United States)

    Adachi, Masao; Abe, Yu; Aoki, Yoko; Matsubara, Yoichi

    2012-01-01

    We report two individual cases of cardio-facio-cutaneous (CFC) syndrome with severe neurological impairment consisting of infantile spasms with hypsarrhythmia and refractory epilepsy with multifocal epileptic paroxysms such as modified hypsarrhythmia. Both cases shared diffuse brain atrophy and severely delayed myelination on neuroimaging. Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome). Neurological impairment in cases with mutations in the RAS/MAPK (mitogen activated protein kinase) signal pathway may be more severe, and could be linked to some forms of refractory epilepsy, especially epileptic encephalopathy that includes infantile spasms. Copyright © 2011 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  14. Trust Management: Literature Review

    Directory of Open Access Journals (Sweden)

    Joanna Olga Paliszkiewicz

    2011-12-01

    Full Text Available The concept of trust has become popular in public debate andacademic analysis. In high income countries this interest is associatedwith concern for the decline of trust in governments andprofessionals, and in developing countries has been promptedby debates around the motion of social capital. Trust has beenidentified as a major factor influencing such things as capital investment,relationship marketing, cross-cultural communication,learning and various types of cooperation. Trust management isbecoming also very important inside the organization. The studywill review empirical research on organizational trust. The purposeof the study will be also evaluation of the advancements andsetbacks in current empirical research in terms of managementorganizational trust. This paper will analyze the theoretical approach,the conceptualization and the measurement issues coveredin studies on management organizational trust. Althoughtrust has emerged as an important factor in organizational relationships,there are still major conceptual and methodologicalchallenges to be met when studying this complex concept.

  15. Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals with Cornelia de Lange Syndrome and Review of the Literature

    Science.gov (United States)

    Schrier, Samantha A.; Sherer, Ilana; Deardorff, Matthew A.; Clark, Dinah; Audette, Lynn; Gillis, Lynette; Kline, Antonie D.; Ernst, Linda; Loomes, Kathy; Krantz, Ian D.; Jackson, Laird G.

    2011-01-01

    To identify causes of death (COD) in propositi with Cornelia de Lange syndrome (CdLS) at various ages, and to develop guidelines to improve management and avoid morbidity and mortality, we retrospectively reviewed a total of 426 propositi with confirmed clinical diagnoses of CdLS in our database who died in a 41-year period between 1966–2007. Of these, 295 had an identifiable COD reported to us. Clinical, laboratory and complete autopsy data were completed on 41, of which 38 were obtainable, an additional 19 had autopsies that only documented the COD, and 45 propositi had surgical, imaging, or terminal event clinical documentation of their COD. Proband ages ranged from fetuses (21 to 40 weeks gestation) to 61 years. A literature review was undertaken to identify all reported causes of death in CdLS individuals. In our cohort of 295 propositi with a known COD, respiratory causes including aspiration/reflux and pneumonias were the most common primary causes (31%), followed by gastrointestinal disease, including obstruction/volvulus (19%). Congenital anomalies accounted for 15% of deaths and included congenital diaphragmatic hernia and congenital heart defects. Acquired cardiac disease accounted for 3% of deaths. Neurological causes and accidents each accounted for 8%, sepsis for 4%, cancer for 2%, renal disease for 1.7%, and other causes, 9% of deaths. We also present 21 representative clinical cases for illustration. This comprehensive review has identified important etiologies contributing to the morbidity and mortality in this population that will provide for an improved understanding of clinical complications, and management for children and adults with CdLS. PMID:22069164

  16. Neuroleptic Malignant Syndrome Associated With Metoclopramide Use in a Boy: Case Report and Review of the Literature.

    Science.gov (United States)

    Wittmann, Osnat; Sadot, Efraim; Bisker-Kassif, Orly; Scolnik, Dennis; Tavor, Oren; Glatstein, Miguel M

    2016-01-01

    Neuroleptic malignant syndrome (NMS), an idiosyncratic reaction comprising muscular rigidity, altered level of consciousness, and autonomic dysfunction, is a rare but serious medical condition. It is most commonly precipitated by major tranquilizers such as butyrophenones, phenothiazines, and thioxanthines. Metoclopramide, a chlorbenzamide derivative with antidopaminergic properties, is widely used to treat nausea and emesis. We describe the first reported case of a boy who developed NMS in association with the use of this drug. A 13-year-old boy presented to the emergency department with a history of hyperthermia (42.6°C) and altered level of consciousness. He had recently had acute gastroenteritis and had been treated with metoclopramide 10 mg three times a day for 2 days. Vital signs were notable for hypotension, and physical examination revealed altered mental status with muscle rigidity. Laboratory testing revealed metabolic acidosis and increased prothrombin and partial thromboplastin times. He was actively cooled and received 3 rapid boluses, totaling 60 mL/kg, of isotonic crystalloids, for more than 20 minutes. Sepsis workup revealed no evidence of bacterial infection. He subsequently recovered fully and was discharged home with pediatric follow-up. This case represents the first description of NMS in association with metoclopramide in a healthy boy. It demonstrates the importance of considering this diagnosis early in the course of disease in patients with muscular rigidity, altered level of consciousness and autonomic dysfunction, and the need to rapidly respond to the physiological aberrations.

  17. Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.

    Science.gov (United States)

    Yen, Ting-Yu; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Wu, Mei-Hwan; Lin, Ming-Tai; Tsao, Lon-Yen; Hsieh, Wu-Shiun; Lee, Ni-Chung

    2008-08-01

    Barth syndrome presents in infancy with hypotonia, dilated cardiomyopathy, and neutropenia. We report a patient whose family history included two males who had died suddenly at the age of 15 days and 2 years, respectively. The index case presented with acute metabolic decompensation at 13 days of age. Within 8 h of presenting with metabolic acidosis (pH 7.13), lactic acidemia (18.5 mmol/l), hyperammonemia (375 microg/dl), hypoglycemia (25 mg/dl), and coagulopathy, the patient developed respiratory failure and required intubation. The diagnosis was established by the presence of left ventricular noncompaction and molecular analysis (c.C153G or Y51X mutation of the TAZ gene). The gene product, taffazin, is a homologue of the glycerolipid transferases involved in the phospholipid metabolism as tetralinoleoyl-cardiolipin, a component of the mitochondrial inner membrane. In conclusion, mutations in taffazin impair mitochondrial respiratory chain complexes, which may results in the acute metabolic decompensation and sudden death; cardiac transplantation is the only possibility at the present time.

  18. Neurotuberculosis immune reconstitution inflammatory syndrome in the setting of HIV infection: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Deepasree Jaganmohan

    2016-01-01

    Full Text Available Immune reconstitution inflammatory syndrome (IRIS is an exaggerated immune response which can occur with various coinfections in human immunodeficiency virus (HIV infected patients, of which the most commonly implicated in central nervous system (CNS-IRIS are progressive multifocal leukoencephalopathy (PML, cryptococcosis, and tuberculosis (TB. TB-IRIS is a known complication of pulmonary TB or TB lymphadenitis coinfection in HIV infected patients who are on antituberculosis treatment (ATT after the initiation of antiretroviral therapy (ART. However, development of IRIS in extrapulmonary TB such as CNS TB is very rare. Our case is that of an isolated CNS-TB-IRIS, presenting as increase in the size and perilesional edema of the ring enhancing lesions in the brain, which was observed in two sequential magnetic resonance imaging done over a period of 2 months in a retropositive patient who presented with clinical deterioration after commencement of ART. As prompt diagnosis was made and specific management aimed at IRIS was started without delay, the patient improved symptomatically.

  19. Involvement of serum HSP 70 in Guillain-Barré Syndrome: An exploratory study and a review of current literature

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    Aida Loshaj-Shala

    2015-01-01

    Full Text Available The evolutionary conserved family of heat shock proteins (HSP is responsible for protecting cells against different types of stress. Although the levels of HSP can be readily measured in serum, the levels of HSP 70 in patients Guillain-Barre Syndrome (GBS have not been studied before. To this aim we investigate whether patients with GBS (n=21 had altered serum HSP 70 levels compared to healthy controls (HC, n=9 and to patients affected by other immune disorders such as multifocal motor neuropathy (MMN, n=4 and chronic inflammatory demyelinating polyneuropathy (CIDP, n=6. The highest HSP 70 value (15.78 ± 1.72 ng/mL was found in one patient in the GBS group, although we have found that serum HSP70 levels were significantly higher in 2 out of the 21 GBS patients (9.5%. Hence, it is of interest to underline that the patient with the highest HSP70 level, had also the best recovery rate. Моrе extensive research is required in order to support the hypothesis that HSP 70 serum concentration may be a useful biomarker for the prediction of remission outcome for GBS patients.

  20. Coincidence of Nicolau Syndrome and Rhabdomyolysis: Report of a Forensic Autopsy Case and Review of the Literature.

    Science.gov (United States)

    Arslan, Murat Nihat; Melez, Deniz Oguzhan; Akcay, Arzu; Gur, Adem; Sam, Bulent; Guven Apaydın, Suheyla

    2016-09-01

    Nicolau syndrome (NS) is a dermatological adverse reaction of intramuscular injections and is caused by several mechanisms. The etiopathogenesis remains unclear, and several hypotheses have suggested a vascular origin. Rhabdomyolysis (RM) is the destruction of striated muscle, with the subsequent release of muscle cell contents into circulation. NS and RM diagnoses may overlap. Herein, we present the autopsy findings of a 40-year-old female with NS complicated with RM. On clinical follow-up, creatine kinase (CK) was 7146 IU/L, and urea and creatinine levels were elevated on the third day after intramuscular diclofenac injection. Possible ischemic process triggered the RM and subsequent acute renal failure. The opportunity for an early diagnosis was missed because the patient delayed seeking medical aid. The prognosis worsened, and the patient died due to secondary sepsis. Early diagnosis of NS before the occurrence of complications is the most important issue in patient education and can be life-saving. © 2016 American Academy of Forensic Sciences.

  1. Management of Refractory Noninsulinoma Pancreatogenous Hypoglycemia Syndrome with Gastric Bypass Reversal: A Case Report and Review of the Literature

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    Bhavana B. Rao

    2015-01-01

    Full Text Available Background. Roux-en-Y gastric bypass (RYGB is a commonly performed, effective bariatric procedure; however, rarely, complications such as postprandial hypoglycemia due to noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS may ensue. Management of refractory NIPHS is challenging. We report a case that was successfully treated with RYGB reversal. Case Report. A 58-year-old male with history of RYGB nine months earlier for morbid obesity presented for evaluation of postprandial, hypoglycemic seizures. Testing for insulin level, insulin antibodies, oral hypoglycemic agents, pituitary axis hormone levels, and cortisol stimulation was unrevealing. Computed tomography (CT scan of the abdomen was unremarkable. A 72-hour fast was completed without hypoglycemia. Mixed meal testing demonstrated endogenous hyperinsulinemic hypoglycemia (EHH and selective arterial calcium stimulation testing (SACST was positive. Strict dietary modifications, maximal medical therapy, gastrostomy tube feeding, and stomal reduction failed to alleviate symptoms. Ultimately, he underwent laparoscopic reversal of RYGB. Now, 9 months after reversal, he has markedly reduced hypoglycemia burden. Discussion. Hyperfunctioning islets secondary to exaggerated incretin response and altered intestinal nutrient delivery are hypothesized to be causative in NIPHS. For refractory cases, there is increasing skepticism about the safety and efficacy of pancreatic resection. RYGB reversal may be successful.

  2. An Aggressive Plasmablastic Lymphoma of the Oral Cavity as Primary Manifestation of Acquired Immunodeficiency Syndrome: Case Report and Literature Review

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    Corti, Marcelo

    2015-01-01

    Full Text Available Introduction Plasmablastic lymphoma is a rare entity that was first described in the jaws and the oral cavity of patients with human immunodeficiency virus (HIV and acquired immunodeficiency syndrome (AIDS. Plasmablastic lymphoma is considered as a diffuse, large, B-cell lymphoma with a unique phenotype and a predilection for the oral cavity. Objective The authors describe a case of an aggressive plasmablastic lymphoma of the oral cavity as the primary manifestation of AIDS. Resumed Report We report a case of plasmablastic lymphoma involving only the oral cavity as the first manifestation of AIDS. Diagnosis was confirmed by the oral lesion biopsy and the histopathologic examination that showed a dense infiltrate composed of atypical lymphocytes with numerous plasmocytes that expressed the plasma cell markers MUM-1 and CD138 and that were negative for the B-cell markers CD3, CD20, and CD45. Immunohistochemical and in situ hybridization revealed the Epstein-Barr virus genome in the atypical cells. Polymerase chain reaction was also positive for human herpesvirus-8 RNA. Conclusion The HIV serologic status should be evaluated in all patients with plasmablastic lymphoma of the oral cavity or extraoral sites.

  3. Prune-belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis.

    Science.gov (United States)

    Tonni, Gabriele; Ida, Vito; Alessandro, Ventura; Bonasoni, Maria Paola

    2013-02-01

    Prune-belly syndrome (PBS) is a rare congenital syndrome characterized by deficient abdominal muscles, urinary tract malformation, and in males, cryptorchidism and has an estimated incidence of 1 in 35,000 to 1 in 50,000 live births. The syndrome might be due to severe bladder outlet obstruction or to abdominal muscle deficiency secondary to a migrational defect of the lateral mesoblast between weeks 6 and 7 of pregnancy. The current review of the medical record reports a special focus on epidemiology, genetic factors, early prenatal diagnosis clusters, treatment, and prognosis of PBS.

  4. Quadrilateral Space Syndrome Treated with Ultrasound-Guided Corticosteroid Injection: A Case of Isolated Teres Minor Atrophy and Review of the Literature.

    Science.gov (United States)

    Chang, Peter S; Jacobson, Nathan; Chang, Kwang U

    2017-10-01

    Quadrilateral space syndrome (QSS) is a rare orthopedic condition caused by compression, entrapment, or injury to the axillary nerve or posterior humeral circumflex artery as they arise from the quadrilateral space. QSS can present with point tenderness over the quadrilateral space and weakness and paresthesia in the axillary nerve distribution. It is commonly associated with repetitive overhead activities and is seen in athletes engaging in such activities. Here we report a case of QSS in a 42-year-old male weight lifter who presented with pain and soreness in the posterior aspect of his right shoulder radiating around his arm as well as slight weakness of his right shoulder of a few weeks duration. MRI results of his shoulder demonstrated moderate atrophy and fatty infiltration of the teres minor. His diagnosis of QSS was confirmed with electro diagnostic testing which showed axillary neuropathy. He was treated with ultrasound guided corticosteroid injections and gained relief from this treatment. His axillary neuropathy was shown to be resolving on repeat electro diagnostic testing at six-months follow-up. Here we report a case of QSS and provide a brief review of the literature. Copyright© South Dakota State Medical Association.

  5. Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature.

    Science.gov (United States)

    Guo, Qing-Hua; Wang, Bao-An; Wang, Chen-Zhi; Wang, Min; Lu, Ju-Ming; Lv, Zhao-Hui; Mu, Yi-Ming

    2016-08-01

    Thyroid hormone resistance syndrome (THRS) is a rare disorder with increased concentrations of free thyroxine (FT4) and triiodothyronine (FT3), but normal or slightly increased thyroid-stimulating hormone (TSH). The mutations in the thyroid hormone receptor β (THRβ) gene are thought to be the main pathogenesis. The aims of this study were to present 1 pedigree of Chinese THRS, summarize their clinical characteristics, and analyze the gene mutation. The clinical characteristics and thyroid function of the proband and his family members were collected. Gene mutations were analyzed by DNA sequencing. The proband and his mother exhibited symptoms of hyperthyroidism, such as palpitations, heat intolerance, and perspiration. The mother also had atrial fibrillation. The rest of the kindred did not display clinical manifestations of hyper- or hypothyroidism. DNA sequencing revealed a heterozygous G>A missense mutation at position 949 in Exon 9 of THRβ both in the patient and his mother, which led to the transition from alanine to threonine at position 317 of THRβ protein (A317T), whereas the rest of the kindred did not share this mutation. The proband and his mother were diagnosed with pituitary resistance to thyroid hormone. Oral administration of methimazole was stopped and β-receptor blockers were administrated. We present 1 pedigree of THRS with heterozygous A317T mutation in THRβ gene in the proband and his mother, which is the first reported mutation in Chinese and provides a comprehensive review of available literature.

  6. Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

    Directory of Open Access Journals (Sweden)

    Sifakis Stavros

    2012-02-01

    Full Text Available Abstract Wolf-Hirschhorn syndrome (WHS is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of the reports of prenatally diagnosed WHS cases are associated with large 4p deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype. We provide a report of two fetuses with WHS presenting with intrauterine growth restriction as an isolated finding or combined with oligohydramnios and abnormal Doppler waveform in umbilical artery and uterine arteries. Standard karyotyping demonstrated a deletion on chromosome 4 in both cases [del(4(p15.33 and del(4(p15.31, respectively] and further application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided.

  7. A not very essential obesity: the Rohhad Syndrome. Description of two cases and review of the literature

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    V. Ramistella

    2013-08-01

    Full Text Available Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD is a rare and complex pediatric disorder . Children typically show ROHHAD after the first years of life with rapid weight gain and subsequently autonomic nervous system dysregulation (altered pain perception, pupillary dysfunction, hypothermia and bradycardia; alveolar hypoventilation with risk of cardiorespiratory arrest and hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, growth hormone and corticotrophin deficiency. Tumours of neural crest origin, such as ganglioneuroblastoma and ganglioneuronoma, are reported in 33% of the patients and may be found in the chest or abdomen. Here we describe two girls who presented with rapid weight gain, at the age of 5 and 9 years respectively. The first was admitted due to obesity and central hypothyroidism. After two months she rapidly developed a clinical picture characterized by thermal dysregulation, hypodipsia and severe hypernatriemia, hypertrigliceridemia, alveolar hypoventilation supported by mechanical ventilation. The second presented with rapid-onset obesity and a mild hyperprolactinemia. After three months of follow- up she was admitted due to a clinical picture of hypothermia, seizures and hyponatremia. Subsequentely she developed altered water balance (severe hypernatremia and severe hypoventilation . Chest CT and MR imaging showed a posterior mediastinal mass. Endocrinological investigation showed corticotrophin deficiency and central hypothyroidism treated with specific replacement therapies. Conclusions: On the basis of our experiences we can infer that it is necessary perform specific further investigations of hypothalamic function in all the children with rapid onset obesity in order to early prevent the catastrophic consequences that may occur in this syndrome.

  8. Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Baldwin, C.T.; Hoth, C.F.; Milunsky, A. [Boston Univ. School of Medicine, MA (United States)] [and others

    1995-08-28

    Waardenburg syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, and pigmentary disturbances, and it represents the most common form of inherited deafness in infants. WS type I is characterized by the presence of dystopia canthorum, while individuals with WS type II have normally-located canthi. WS type III is similar to WS type I but is also characterized by musculoskeletal abnormalities. Defects in the PAX3 gene, a transcription factor expressed during embryonic development, have been shown to cause WS types I and III in several families. In contrast, mutations in PAX3 do not cause WS type II, and linkage of the disease to other chromosomal regions has been demonstrated. We describe 10 additional mutations in the PAX3 gene in families with WS type I. Eight of these mutations are in the region of PAX3, where only one mutation has been previously described. These mutations, together with those previously reported, cover essentially the entire PAX3 gene and represent a wide spectrum of mutations that can cause WS type I. Thus far, all but one of the mutations are private; only one mutation has been reported in two apparently unrelated families. Our analysis thus far demonstrates little correlation between genotype and phenotype; deletions of the entire PAX3 gene result in phenotypes indistinguishable from those associated with single-base substitutions in the paired domain or homeodomain of PAX3. Moreover, two similar mutations in close proximity can result in significantly different phenotypes, WS type I in one family and WS type III in another. 47 refs., 3 figs., 5 tabs.

  9. Neuropsychiatric perspectives on nodding syndrome in northern Uganda: a case series study and a review of the literature.

    Science.gov (United States)

    Musisi, S; Akena, D; Nakimuli-Mpungu, E; Abbo, C; Okello, J

    2013-06-01

    Nodding Syndrome (NS), previously called Nodding Disease, is a chronic and debilitating illness affecting thousands of children aged 3-18 years in post-conflict Northern Uganda and South Sudan. Characterised by malnutrition, stunted growth, mental retardation and seizures, some researchers have designated it as epilepsy. With reports appearing in Northern Uganda in1997, NS reached epidemic proportions around 2000-2003 when people were moved into Internally Displaced People's (IDP) camps. Investigations for infections (onchocerciasis) and toxins have been inconclusive as to cause, treatment or outcome. No study has addressed the possible relationship of NS to childhood war-trauma experiences. To explore a possible relationship of exposure to prolonged war-trauma and the emergence of epidemic NS in Northern Uganda. This study was a case-series descriptive psychiatric naturalistic field observations of NS cases from homesteads in Northern Uganda and psychiatric investigations and treatment of NS cases referred to Mulago National Referral and Teaching Hospital. Detailed Psychiatric clinical evaluations and field observations revealed that NS children had been exposed to severe war-related psychological and physical trauma as well as non-specific CNS insults including untreated CNS infections/infestations and malnutrition possibly causing seizures. Many children suffered post-traumatic stress disorder (PTSD) and depression. NS could present as an association of childhood complex PTSD, (called Developmental Trauma Disorder), occurring in the chronically war-traumatised children of Northern Uganda, complicated by severe prolonged depression with its characteristic symptoms of psychomotor retardation, anxiety, anhedonia and anorexia. This, coupled with food shortages, resulted in malnutrition, wasting and stunted growth with severe avitaminoses. Many children had seizures. All this calls for multi-disciplinary treatment approaches.

  10. Therapy-related myelodysplastic syndrome after successful treatment of acute promyelocytic leukemia: case report and literature review

    Directory of Open Access Journals (Sweden)

    Cîrstea Mihaela

    2017-04-01

    Full Text Available In the 2016 revision of the World Health Organization classification the term therapy-related myeloid neoplasia (t-MN defines a subgroup of acute myeloid leukemia (AML comprising patients who develop myelodysplastic syndrome (MDS-t or acute myeloid leukemia (AML-t after treatment with cytotoxic and/or radiation therapy for various malignancies or autoimmune disorders. We report the case of a 36 year old patient with t-MN (t-MDS after achieving complete remission (CR of a PML-RARA positive acute promyelocytic leukemia (APL at 32 months after diagnosis. Initially classified as low risk APL and treated according to the AIDA protocol - induction and 3 consolidation cycles - the patient achieved a complete molecular response in September 2013 and started maintenance therapy. On follow-up PML-RARA transcript remained negative. In January 2016 leukopenia and thrombocytopenia developed and a peripheral blood smear revealed hypogranular and agranular neutrophils. Immunophenotyping in the bone marrow aspirate identified undifferentiated blast cells that did not express cytoplasmic myeloperoxidase. The cytogenetic study showed normal karyotype. The molecular biology tests not identified PMLRARA transcript. A diagnosis of t-MDS (AREB-2 - WHO 2008 was established. Treatment of AML was started with 2 “3+7” regimens and 1 MEC cycle. Two months from diagnosis, while in CR, an allogeneic HSCT from an unrelated HLA compatible donor was performed after myeloablative regimen. An unfavorable clinical evolution was followed by death on day 9 after transplantation. The occurrence of t-MNs during CR of APL represents a particular problem in terms of follow-up and differential diagnosis of relapse and constitutes a dramatic complication for a disease with a favorable prognosis.

  11. Adult-onset opsoclonus-myoclonus-ataxia syndrome as a manifestation of brazilian lyme disease-like syndrome: a case report and review of literature.

    Science.gov (United States)

    Lino, Angelina Maria Martins; Spera, Raphael Ribeiro; de Campos, Fernando Peixoto Ferraz; Freitas, Christian Henrique de Andrade; Garcia, Márcio Ricardo Taveira; Lopes, Leonardo da Costa; Prokopowitsch, Aleksander Snioka

    2014-01-01

    Described in 1962, the opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare, neurologically debilitating disorder with distinct characteristics that may begin in childhood or adult life. Although many cases remain without etiological diagnosis, others are related to neoplasms and infectious diseases. We report a 41-year-old previously healthy male with an 8-day history of headache, vertigo, nausea, vomiting, and nystagmus. After a normal brain computed tomography and lymphocytic pleocytosis in cerebral spinal fluid (CSF), intravenous acyclovir therapy was initiated in the emergency room. On the third day of hospitalization, the diagnosis of OMAS was made based on the presence of chaotic and irregular eye movements, dysarthric speech, gait instability, generalized tremor, and myoclonic jerks. In the face of his neurological worsening, ampicillin followed by nonspecific immunotherapy (methylprednisolone and intravenous immunoglobulin) was prescribed, with mild clinical improvement. After a thorough laboratory workup, the definite diagnosis of neuroborreliosis was established and ceftriaxone (4 g/daily/3 wks) and doxycycline (200 mg/day/2 mo) was administered. Toward the end of the ceftriaxone regimen, the neurologic signs substantially improved. We believe this to be the first case description of OMAS as clinical presentation of Brazilian Lyme disease-like syndrome (Baggio-Yoshinari syndrome).

  12. Adult-onset opsoclonus-myoclonus-ataxia syndrome as a manifestation of brazilian lyme disease-like syndrome: a case report and review of literature

    Directory of Open Access Journals (Sweden)

    Angelina Maria Martins Lino

    2014-03-01

    Full Text Available Described in 1962, the opsoclonus-myoclonus-ataxia syndrome (OMAS is a rare, neurologically debilitating disorder with distinct characteristics that may begin in childhood or adult life. Although many cases remain without etiological diagnosis, others are related to neoplasms and infectious diseases. We report a 41-year-old previously healthy male with an 8-day history of headache, vertigo, nausea, vomiting, and nystagmus. After a normal brain computed tomography and lymphocytic pleocytosis in cerebral spinal fluid (CSF, intravenous acyclovir therapy was initiated in the emergency room. On the third day of hospitalization, the diagnosis of OMAS was made based on the presence of chaotic and irregular eye movements, dysarthric speech, gait instability, generalized tremor, and myoclonic jerks. In the face of his neurological worsening, ampicillin followed by nonspecific immunotherapy (methylprednisolone and intravenous immunoglobulin was prescribed, with mild clinical improvement. After a thorough laboratory workup, the definite diagnosis of neuroborreliosis was established and ceftriaxone (4 g/daily/3wks and doxycycline (200 mg/day/2 mo was administered. Toward the end of the ceftriaxone regimen, the neurologic signs substantially improved. We believe this to be the first case description of OMAS as clinical presentation of Brazilian Lyme disease-like syndrome (Baggio-Yoshinari syndrome.

  13. Food protein-induced enterocolitis syndrome – a review of the literature with focus on clinical management

    Directory of Open Access Journals (Sweden)

    Michelet M

    2017-06-01

    Full Text Available Marine Michelet,1,* Dominique Schluckebier,2,* Laetitia-Marie Petit,2 Jean-Christoph Caubet3 1Children Hospital, Pediatric Allergology Unit CHU Toulouse, Toulouse, France; 2Geneva University Hospitals, Pediatric Gastroenterology Unit, 3Geneva University Hospitals, Pediatric Allergology Unit, Geneva, Switzerland *These authors contributed equally to this work Abstract: Food protein-induced enterocolitis syndrome (FPIES is a potentially severe presentation of non-IgE-mediated gastrointestinal food allergy (non-IgE-GI-FA with heterogeneous clinical manifestations. Acute FPIES is typically characterized by profuse vomiting and lethargy, occurring classically 1–4 hours after ingestion of the offending food. When continuously exposed to the incriminated food, a chronic form has been described with persistent vomiting, diarrhea, and/or failure to thrive. Although affecting mainly infants, FPIES has also been described in adults. Although FPIES is actually one of the most actively studied non-IgE-GI-FAs, epidemiologic data are lacking, and estimation of the prevalence is based on a limited number of prospective studies. The exact pathomechanisms of FPIES remain not well defined, but recent data suggest involvement of neutrophils and mast cells, in addition to T cells. There is a wide range of food allergens that can cause FPIES with some geographical variations. The most frequently incriminated foods are cow milk, soy, and grains in Europe and USA. Furthermore, FPIES can be induced by foods usually considered as hypoallergenic, such as chicken, potatoes or rice. The diagnosis relies currently on typical clinical manifestations, resolving after the elimination of the offending food from the infant’s/child’s diet and/or an oral food challenge (OFC. The prognosis is usually favorable, with the vast majority of the case resolving before 5 years of age. Usually, assessment of tolerance acquisition by OFC is proposed every 12–18 months. Of note, a

  14. [Locked-in syndrome in literature, cinema and television].

    Science.gov (United States)

    Collado-Vázquez, Susana; Carrillo, Jesús M

    2012-05-01

    Many diseases have been dealt with in literature, cinema or television, including epilepsy, cancer, mental disorders, movement disorders or infectious diseases. Among the many pathologies that have been considered, locked-in syndrome is one that has been of particular interest to writers and film-makers. To review how locked-in syndrome has been portrayed in literature, cinema and television. Locked-in syndrome is a state that is generally secondary to a brainstem lesion with involvement of the corticobulbar and corticospinal tracts, thereby impeding the patient from producing any kind of motor response. Patients remain conscious, maintain their higher functions and can both see and hear. Yet, they are quadriplegic with paralysis of the lower cranial nerves and cannot move or speak. They only conserve the capacity to move their eyes vertically and their eyelids, which they can use as a way to communicate. This pathology has come to the attention of writers and film and television directors, who have described characters with this syndrome. Likewise, there are also stories told in the first person by patients who have experienced this condition and who have written their story using eye movements as a means to communicate. Literature, cinema and television have shown an interest in locked-in syndrome and have placed special attention on the problems these patients have to communicate with others.

  15. [Tics and Tourette syndrome in literature, cinema and television].

    Science.gov (United States)

    Collado-Vázquez, Susana; Carrillo, Jesús M

    2013-08-01

    Different neurological diseases have often been portrayed in literature, cinema and television. Tics and Tourette syndrome, for example, are commonly represented from different perspectives, which are sometimes very realistic but in some cases are used for more dramatic purposes or to make a character look ridiculous. One of the main effects of these inadequate views is to further stigmatise those who suffer these movement disorders. To review the way tics and Tourette syndrome have been portrayed in certain literary works, films and television. Tics are rapid, stereotypic, involuntary, recurring, non-purposeful movements of the skeletal and pharyngeal-laryngeal muscles. In Gilles de la Tourette syndrome a number of tics are associated to involuntary vocalisations (echolalia, coprolalia). They begin in childhood and are usually associated to obsessive-compulsive behaviours. These disorders have appeared in literature in works such as Little Dorrit, Angel Guerra, La torre de los siete jorobados or Motherless Brooklyn. Film-makers have also shown an interest in tics and Tourette syndrome and they have been portrayed in films such as Young and Innocent, The Tic Code or Matchstick Men. Likewise, a number of television series also contain characters with these disorders, including Shameless, Ally McBeal, Quincy, M.E. or L.A. Law. Tics and Tourette syndrome have frequently been portrayed in literature, cinema and television, sometimes in a very realistic manner. In other cases, however, the way they are dealt with has only helped to create false beliefs and stereotyped images of the disorders.

  16. Vogt-Koyanagi-Harada's disease: literature review

    Directory of Open Access Journals (Sweden)

    Pereira, Talita Valleska de Campos

    2008-09-01

    Full Text Available Introduction: Vogt-Koyanagi-Harada's disease is a rare syndrome that affects tissues with melanocytes like eyes, central nervous system, skin and inner ear. It affects primarily Asians, Indians and Latin Americans and also women. Objective: To review in the literature the several aspects of Vogt-Koyanagi-Harada's disease focusing on its cause and also to study its otolaryngology aspects through online databases Cochrane, LILACS, MEDLINE, OMIM e SciELO. Literature Review: This exact cause remains unknown, but there are evidences of an autoimmune process against an antigenic component on the melanocyte configuring an inflammatory T-cell-mediated immune response. The HLADRB1* 0405 allele is the one that is most associated to the disease. The clinic manifestations are divided in four: prodromal, uveitic, chronic and recurrence stages. The otolaryngology's aspects occur at the uveitic stage. Hearing loss is sensorineural bilateral and quickly progressive and could be associated with tinnitus. The vestibular component is less affected with vertigo, nystagmus and abnormal vestibular reflex. The otolaryngology's manifestations do not influence the recurrences or complications and they also have great prognosis with the treatment established. The diagnosis of this syndrome is based on clinical criteria, but audiological test could help. The therapy is corticosteroid-based. Final Comments: The most important factor for prognosis is the immediately treatment. The rarity of this syndrome makes its diagnosis a challenge and the presence of deafness, tinnitus and vertigo must consider its diagnosis.

  17. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a review of the literature

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    Leana-Cox, J.; Pangkanon, Suthipong; Eanet, K.R. [Univ. of Maryland School of Medicine, Baltimore, MD (United States)] [and others

    1996-11-11

    The DiGeorge (DG), velocardiofacial (VCF), and conotruncal anomaly-face (CTAF) syndromes were originally described as distinct disorders, although overlapping phenotypes have been recognized. It is now clear that all three syndromes result from apparently similar or identical 22q11.2 deletions, suggesting that they represent phenotypic variability of a single genetic syndrome. We report on 12 individuals in five families with del(22)(q11.2) by fluorescent in situ hybridization, and define the frequency of phenotypic abnormalities in those cases and in 70 individuals from 27 del(22)(q11.2) families from the literature. Common manifestations include mental impairment (97%), abnormal face (93%), cardiac malformations (681%), thymic (64%) and parathyroid (63%) abnormalities, and cleft palate or velopharyngeal insufficiency (48%). Familial DG, VCF, and CTAF syndromes due to del(22)(q11.2) show significant inter- and intrafamilial clinical variability consistent with the hypothesis that a single gene or group of tightly linked genes is the common cause of these syndromes. Up to 25% of 22q deletions are inherited, indicating that parents of affected children warrant molecular cytogenetic evaluation. We propose use of the compound term {open_quotes}DiGeorge/velocardiofacial (DGNCF) syndrome{close_quotes} in referring to this condition, as it calls attention to the phenotypic spectrum using historically familiar names. 41 refs., 2 figs., 2 tabs.

  18. Dhat syndrome: a systematic review.

    Science.gov (United States)

    Udina, Marc; Foulon, Hubert; Valdés, Manuel; Bhattacharyya, Sagnik; Martín-Santos, Rocío

    2013-01-01

    Dhat syndrome is a widely recognized clinical condition often seen on the Indian subcontinent that is characterized by a preoccupation with semen loss in urine and other symptoms such as fatigue or depressed mood. Although it has been considered to be a culture-bound syndrome, it may also be regarded as a distinct manifestation of depression or another medical illness. The purpose of this paper was to carry out a systematic review on Dhat syndrome. A review of the literature published up until February 2012 was conducted using the key words [Dhat syndrome] or [semen-loss anxiety] or [semen-loss syndrome]. We included only original studies. The majority of studies reported patients from the Indian subcontinent. There was a high degree of heterogeneity among the studies. Dhat was a common condition in young people from certain cultures and origins. Depressive and anxiety symptoms were common, including fatigue, sleepiness, and sexual dysfunction. Good clinical engagement, social support, and sexual education were useful in some cases. Given the high rate of comorbid depressive symptoms, antidepressant has been used. In an increasingly globalized world, clinicians must be able to properly diagnose and treat patients from other cultures, who may report symptoms that are influenced by their beliefs, culture, or place of origin. Dhat may be a common manifestation of a depressive or anxiety disorder in certain cultures. Further research is needed to improve our understanding of this condition, to clarify its nosologic status, and to offer appropriate treatment to affected individuals. Copyright © 2013 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

  19. CAMERON LESIONS: LITERATURE REVIEW AND CASE PRESENTATION

    Directory of Open Access Journals (Sweden)

    V. V. Vasilenko

    2016-01-01

    Full Text Available Cameron syndrome is the ulcerative or erosive lesions of mucosal layer at the sac of hiatal hernia which can cause chronic occult or overt bleeding and iron-deficiency anemia. Hiatal hernia is a relatively frequent finding, which is in most cases asymptomatic or manifested by dyspeptic symptoms of varying severity. Despite of being a very important association of hiatal hernia Cameron syndrome is not widely represented in medical literature. That`s the reason of a lack of awareness among physicians, surgeons and endoscopists about that pathology. Cameron lesions are significant pathology because they can become a source of chronic occult as well as an acute life-threatening bleeding. Those lesions of upper gastrointestinal tract are often misinterpreted or overlooked during standard diagnostic procedures. It can lead to the misdiagnosis and false ways of treatment. The review focuses on the pathogenesis, main diagnostic problems and treatment options of that pathology. The diagnostics of the Cameron syndrome is difficult because sometimes the lesions can`t be seen on upper gastrointestinal tract endoscopy. The review describes the criteria by which the physician may suspect Cameron syndrome when endoscopy results are not certain. Clinical case represents an important problem which is often faced by the doctors — the severe iron-deficiency anemia refractory to the medication and blood transfusions in the patients with Cameron lesions. It`s very important for doctor to be aware of that complication to include Cameron syndrome into the diagnostic search for the sources of persistent blood loss. Cameron lesions can be asymptomatic as well as be manifested in the form of severe chronic anemia. And that`s the reason why there are an important issue about the proper treatment which have to be provided in each case. The review describes the effectiveness of different treatment options and makes the conclusion about the principles on which doctor can

  20. Ortner's syndrome: case series and literature review Síndrome de Ortner: série de casos e revisão da literatura

    Directory of Open Access Journals (Sweden)

    Vijayalakshmi Subramaniam

    2011-10-01

    Full Text Available More than a century ago, Ortner described a case of cardiovocal syndrome wherein he attributed a case of left vocal fold immobility to compression of the recurrent laryngeal nerve by a dilated left atrium in a patient with mitral valve stenosis. Since then, the term Ortner's syndrome has come to encompass any nonmalignant, cardiac, intrathoracic process that results in embarrassment of either recurrent laryngeal nerve-usually by stretching, pulling, or compression; and causes vocal fold paralysis. Not surprisingly, the left recurrent laryngeal nerve, with its longer course around the aortic arch, is more frequently involved than the right nerve, which passes around the subclavian artery. OBJECTIVES: To discuss the pathogenesis of hoarseness resulting from cardiovascular disorders involving the recurrent laryngeal nerve along with the findings of literature review. MATERIALS AND METHODS: This paper reports a series of four cases of Ortner's syndrome occurring due to different causes. DESIGN: Case study. RESULT: Ortner's syndrome could be a cause of hoarseness of voice in patients with cardiovascular diseases. CONCLUSION: Although hoarseness of voice is frequently encountered in the Otolaryngology outpatient department, cardiovascular- related hoarseness is an unusual presentation. Indirect laryngoscopy should be routinely performed in all cases of heart disease.Há mais de um século, Ortner descreveu um caso de síndrome cardiovocal, no qual ele atribuiu um caso de imobilidade da prega vocal esquerda à compressão do nervo laríngeo recorrente causada por dilatação do átrio esquerdo em um paciente com estenose valvar mitral. Desde então, o termo Síndrome de Ortner tem sido usado para descrever qualquer condição cardíaca intratorácica não maligna que resulte no envolvimento do nervo laríngeo recorrente - geralmente por estiramento, contração ou compressão, causando paralisia vocal. Não é surpreendente que o nervo lar