Sample records for bardet-biedl syndrome case

  1. Energy metabolism in Bardet–Biedl syndrome

    Microsoft Academic Search

    C Grace; P Beales; C Summerbell; S A Jebb; A Wright; D Parker; P Kopelman

    2003-01-01

    INTRODUCTION: Obesity is a consistent presenting feature of the Bardet–Biedl syndrome (BBS), a hereditary disorder caused by a single gene defect. This contrasts sharply with general obesity which, despite a strong hereditary component, has a multifactorial aetiology. For BBS, the phenotypic characterisation of the components of energy balance and the implications for their management remains relatively uninvestigated.OBJECTIVE: A case–control study

  2. Bardet-Biedl syndrome associated with vaginal atresia: a case report.

    PubMed

    U?uralp, Sema; Demircan, Mehmet; Cetin, Selma; Si?irci, Ahmet

    2003-01-01

    This is a case report of Bardet-Biedl syndrome associated with vaginal atresia diagnosed in a 15-year-old girl. She had mild mental retardation; obesity; nistagmus, retinitis pigmentosa and optic atrophy in both eyes; accessory digit on the left hand; polydactyly in lower extremities; a mobile, painful, nonfixed mass of 6 cm in diameter in the pelvic region; a palpable cystic mass in front of the rectal wall; and no vaginal opening. Secondary sex characteristics were determined. The vaginal atresia was distinguished from vaginal agenesis by the presence of proximal vagina in radiological examination. PMID:14696812

  3. Bardet-Biedl syndrome and Usher syndrome.

    PubMed

    Koenig, Rainer

    2003-01-01

    Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients. PMID:12876834

  4. Dissection of epistasis in oligogenic Bardet-Biedl syndrome

    Microsoft Academic Search

    Jose L. Badano; Carmen C. Leitch; Stephen J. Ansley; Helen May-Simera; Shaneka Lawson; Richard Alan Lewis; Philip L. Beales; Harry C. Dietz; Shannon Fisher; Nicholas Katsanis

    2006-01-01

    Epistatic interactions have an important role in phenotypic variability, yet the genetic dissection of such phenomena remains challenging. Here we report the identification of a novel locus, MGC1203, that contributes epistatic alleles to Bardet-Biedl syndrome (BBS), a pleiotropic, oligogenic disorder. MGC1203 encodes a pericentriolar protein that interacts and colocalizes with the BBS proteins. Sequencing of two independent BBS cohorts revealed

  5. Renal vascular abnormalities in Bardet-Biedl syndrome

    Microsoft Academic Search

    E. Bask?n; Ferhun Balkanc?; Saruhan Çekirge; Cumhur ?ener; Umit Saatçi

    1999-01-01

    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder. Specific diagnostic criteria for BBS have now been defined.\\u000a At least four of the five cardinal signs of mental retardation, obesity, hypogenitalism in men, distal limb anomalies, and\\u000a progressive tapetoretinal degeneration of the retina are required for the diagnosis. Renal involvement has been described\\u000a as a sixth cardinal feature. Chronic renal

  6. Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins

    PubMed Central

    Starks, Rachel D.; Beyer, Andreas M.; Guo, Deng Fu; Boland, Lauren; Zhang, Qihong; Sheffield, Val C.; Rahmouni, Kamal

    2015-01-01

    Insulin and its receptor are critical for the regulation of metabolic functions, but the mechanisms underlying insulin receptor (IR) trafficking to the plasma membrane are not well understood. Here, we show that Bardet Biedl Syndrome (BBS) proteins are necessary for IR localization to the cell surface. We demonstrate that the IR interacts physically with BBS proteins, and reducing the expression of BBS proteins perturbs IR expression in the cell surface. We show the consequence of disrupting BBS proteins for whole body insulin action and glucose metabolism using mice lacking different BBS genes. These findings demonstrate the importance of BBS proteins in underlying IR cell surface expression. Our data identify defects in trafficking and localization of the IR as a novel mechanism accounting for the insulin resistance commonly associated with human BBS. This is supported by the reduced surface expression of the IR in fibroblasts derived from patients bearing the M390R mutation in the BBS1 gene. PMID:26103456

  7. Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

    PubMed

    Badano, Jose L; Leitch, Carmen C; Ansley, Stephen J; May-Simera, Helen; Lawson, Shaneka; Lewis, Richard Alan; Beales, Philip L; Dietz, Harry C; Fisher, Shannon; Katsanis, Nicholas

    2006-01-19

    Epistatic interactions have an important role in phenotypic variability, yet the genetic dissection of such phenomena remains challenging. Here we report the identification of a novel locus, MGC1203, that contributes epistatic alleles to Bardet-Biedl syndrome (BBS), a pleiotropic, oligogenic disorder. MGC1203 encodes a pericentriolar protein that interacts and colocalizes with the BBS proteins. Sequencing of two independent BBS cohorts revealed a significant enrichment of a heterozygous C430T mutation in patients, and a transmission disequilibrium test (TDT) showed strong over-transmission of this variant. Further analyses showed that the 430T allele enhances the use of a cryptic splice acceptor site, causing the introduction of a premature termination codon (PTC) and the reduction of steady-state MGC1203 messenger RNA levels. Finally, recapitulation of the human genotypes in zebrafish shows that modest suppression of mgc1203 exerts an epistatic effect on the developmental phenotype of BBS morphants. Our data demonstrate how the combined use of biochemical, genetic and in vivo tools can facilitate the dissection of epistatic phenomena, and enhance our appreciation of the genetic basis of phenotypic variability. PMID:16327777

  8. Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure

    PubMed Central

    Sahin, Cem; Huddam, Bulent; Akbaba, Gulhan; Tunca, Hasan; Koca, Emine; Levent, Mustafa

    2015-01-01

    Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1–18) and 7 BBS proteins have been defined as related to BBS. All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia. Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality. Therefore, as one of the major diagnostic criteria, renal damage is of great importance in early diagnosis. This paper presents the cases of two brothers with BBS who presented with chronic renal failure. PMID:25960897

  9. Two brothers with bardet-biedl syndrome presenting with chronic renal failure.

    PubMed

    Sahin, Cem; Huddam, Bulent; Akbaba, Gulhan; Tunca, Hasan; Koca, Emine; Levent, Mustafa

    2015-01-01

    Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1-18) and 7 BBS proteins have been defined as related to BBS. All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia. Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality. Therefore, as one of the major diagnostic criteria, renal damage is of great importance in early diagnosis. This paper presents the cases of two brothers with BBS who presented with chronic renal failure. PMID:25960897

  10. Genetic linkage analysis in 26 families with Bardet-Biedl syndrome

    SciTech Connect

    Wright, A.F.; Bruford, E.A.; Mansfield, D.C. [Western General Hospital, Edinburgh (United Kingdom)] [and others

    1994-09-01

    Bardet-Biedl syndrome is an autosomal recessive disorder characterized by polydactyly, obesity, hypogonadism, retinitis pigmentosa, renal anomalies and mental retardation. Clinical heterogeneity is quite marked both within and between families. Linkage has been reported between Bardet-Biedl syndrome and the D16408 marker in chromosomal region 16q21 in an extended Bedouin kindred and, more recently, in a subset of 17 out of 31 families using the PYGM/D11S913 markers in chromosomal region 11q13. We have analyzed linkage to the 16q21 and 11q13 regions and used markers covering chromosomes 2, 3, 17 and 18 in a set of 26 Bardet-Biedl families, each containing at least two affected individuals, with a total of 57 affected members. Evidence of linkage to the D11S527 locus has been identified assuming linkage homogeneity with a lod score of 2.72 at a recombination fraction of 0.11 (95% limits 0.03-0.25).

  11. Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

    PubMed Central

    Karmous-Benailly, Houda; Martinovic, Jelena; Gubler, Marie-Claire; Sirot, Yoann; Clech, Laure; Ozilou, Catherine; Augé, Joëlle; Brahimi, Nora; Etchevers, Heather; Detrait, Eric; Esculpavit, Chantal; Audollent, Sophie; Goudefroye, Géraldine; Gonzales, Marie; Tantau, Julia; Loget, Philippe; Joubert, Madeleine; Gaillard, Dominique; Jeanne-Pasquier, Corinne; Delezoide, Anne-Lise; Peter, Marie-Odile; Plessis, Ghislaine; Simon-Bouy, Brigitte; Dollfus, Hélène; Le Merrer, Martine; Munnich, Arnold; Encha-Razavi, Férechté; Vekemans, Michel; Attié-Bitach, Tania

    2005-01-01

    Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological features. The condition is genetically heterogeneous, and eight genes (BBS1–BBS8) have been identified to date. A mutation of the BBS1 gene on chromosome 11q13 is observed in 30%–40% of BBS cases. In addition, a complex triallelic inheritance has been established in this disorder—that is, in some families, three mutations at two BBS loci are necessary for the disease to be expressed. The clinical features of BBS that can be observed at birth are polydactyly, kidney anomaly, hepatic fibrosis, and genital and heart malformations. Interestingly, polydactyly, cystic kidneys, and liver anomalies (hepatic fibrosis with bile-duct proliferation) are also observed in Meckel syndrome, along with occipital encephalocele. Therefore, we decided to sequence the eight BBS genes in a series of 13 antenatal cases presenting with cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele. These fetuses were mostly diagnosed as having Meckel or “Meckel-like” syndrome. In six cases, we identified a recessive mutation in a BBS gene (three in BBS2, two in BBS4, and one in BBS6). We found a heterozygous BBS6 mutation in three additional cases. No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series. These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome. PMID:15666242

  12. Autosomal recessive Bardet–Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders

    Microsoft Academic Search

    Michael P Webb; Elizabeth L Dicks; Jane S Green; Susan J Moore; Geoff M Warden; Jane S Gamberg; William S Davidson; Terry-Lynn Young; Patrick S Parfrey

    2009-01-01

    Bardet–Biedl Syndrome (BBS) is an autosomal recessive, multisystem, genetically heterogeneous, ciliopathic condition caused by mutations in multiple genes. Here we sought to determine if inheritance of a single BBS mutation increased the risks of frequent disorders of this syndrome such as obesity, hypertension, and diabetes. Various metabolic and renal diseases in a cohort of 46 patients with BBS, prospectively followed

  13. Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

    Microsoft Academic Search

    Nicolas F. Berbari; Jacqueline S. Lewis; Georgia A. Bishop; Candice C. Askwith; Kirk Mykytyn

    2008-01-01

    Primary cilia are ubiquitous cellular appendages that provide important yet not well understood sensory and signaling functions. Ciliary dysfunction underlies numerous human genetic disorders. However, the precise defects in cilia function and the basis of disease pathophysiology remain unclear. Here, we report that the proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localization of

  14. [Elizabethkingia meningosepticum bacteremia in a patient with Bardet-Biedl syndrome and chronic renal failure].

    PubMed

    Bayrak, Burcu; F?ncanci, Muzaffer; B?nay, Umut Devrim; Ç?men, Cansu; Özkantar Ünlügüne?, Gülay Ulkü

    2014-07-01

    Elizabethkingia meningosepticum, a gram-negative opportunistic pathogen may cause life-threatening nosocomial infections especially in newborns and immunosuppressive patients. This bacterium has a peculiar antibiotic resistance profile. It is resistant to most of the antibiotics against gram-negative bacteria and susceptible to antibiotics that are used to treat gram-positive bacteria, such as vancomycin and trimethoprim-sulphamethoxazole (SXT). For this reason appropriate treatment of E.meningosepticum infections are based on the proper identification of bacteria. In this report, a case of catheter-related E.meningosepticum bacteremia in a patient with chronic renal failure due to Bardet-Biedl syndrome, a genetic disorder characterized by multiorgan dysfunction, was presented. A 25-year-old male patient with Bardet-Biedl syndrome was admitted to the emergency room with the complaints of high fever with shivers that started the day before. The patient had a femoral dialysis catheter. Venous blood samples drawn at the time of administration were cultured immediately. Two days later, blood cultures which yielded positive signals were passaged onto blood and MacConkey agar plates and after incubation at 37°C for 16 hours, wet-raised colonies with clear margin, gray colour and large size similar to gram-negative bacterial colonies were detected on blood agar medium. No growth was observed on MacConkey agar plate at the end of five days. The isolate was found positive for KOH, oxidase, catalase, urease, esculine and MOI (Motility Indole Ornithine) tests, whereas it was citrate negative. Gram staining revealed faintly stained thin gram-negative bacilli. The isolate was identified as E.meningosepticum by Vitek® 2 system (bioMérieux, USA), and confirmed by sequence analysis of 16S RNA gene region amplified with PCR method. The antibiotic susceptibility profile of the strain was detected by the Vitek 2 system, while vancomycin susceptibility was investigated by Kirby-Bauer disc diffusion method. The isolate was found resistant to ampicillin/sulbactam, piperacillin/tazobactam, ceftazidime, cefepime, meropenem, imipenem, amikacin, gentamicin, netilmicin, levofloxacin, tetracycline, colistin and rifampicin; intermediate to tigecyclin and tetracyclin; susceptible to cefoperazone/sulbactam, ciprofloxacin, levofloxacin, SXT and vancomycin. One gram vancomycin once every four days was administered to the patient, however on the ninth day of the treatment he developed fever again. Blood cultures obtained again yielded E.meningosepticum. After changing his dialysis catheter and extending the vancomycin treatment to 15 days, the patient was discharged with cure. In conclusion, clinicians should consider E.meningosepticum as a possible causative agent of bacteremia non-responsive to the empirical antibiotic regimens and when gram-negative bacteria are isolated from the blood cultures of such patients with underlying diseases. Accurate and prompt identification of E.meningosepticum will allow immediate administration of the specific antibiotic treatment, thereby decreasing the mortality and morbidity rates. PMID:25052117

  15. Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.

    PubMed

    Putoux, Audrey; Attie-Bitach, Tania; Martinovic, Jéléna; Gubler, Marie-Claire

    2012-01-01

    Bardet-Biedl syndrome (BBS) is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. The syndrome is genetically heterogeneous with 14 BBS genes identified to date. Since the cloning of the first gene in 2000, a combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology. Pleiotropy of ciliopathy phenotypes and complex genetic interactions between causal and modifying alleles of ciliary genes contribute to phenotypic variability. In particular, kidney disease in BBS is clinically heterogeneous, but is now recognized as a cardinal feature and a major cause of mortality in BBS. PMID:21246219

  16. Hyperactive Neuroendocrine Secretion Causes Size, Feeding, and Metabolic Defects of C. elegans Bardet-Biedl Syndrome Mutants

    Microsoft Academic Search

    Brian H. Lee; Jason Liu; Daisy Wong; Supriya Srinivasan; Kaveh Ashrafi

    2011-01-01

    Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, short stature, cognitive impairment, and developmental delays. Disruptions of BBS proteins in a variety of organisms impair cilia formation and function and the multi-organ defects of BBS have been attributed to deficiencies in various cilia-associated signaling pathways. In C. elegans, bbs genes are

  17. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci

    SciTech Connect

    Carmi, R.; Elbedour, K. [Ben-Gurion Univ., Beer-Sheva (Israel); Stone, E.M.; Sheffield, V.C. [Univ. of Iowa, IA (United States)

    1995-11-06

    Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of mental retardation, obesity, retinal dystrophy, polydactyly, and hypogenitalism. Renal and cardiac abnormalities are also frequent in this disorder. Previous clinical suggestions of heterogeneity of BBS were confirmed recently by the identification of four different chromosome loci linked to the disease. In this study we compared clinical manifestations of the syndrome in patients form 3 unrelated, extended Arab-Bedouin kindreds which were used for the linkage mapping of the BBS loci to chromosomes 3, 15, and 16. The observed differences included the limb distribution of the postaxial polydactyly and the extent and age-association of obesity. It appears that the chromosome 3 locus is associated with polydactyly of all four limbs, while polydactyly of the chromosome 15 type is mostly confined to the hands. On the other hand, the chromosome 15 type is associated with early-onset morbid obesity, while the chromosome 16 type appears to present the {open_quotes}leanest{close_quotes} form of BBS. Future cloning of the various BB genes will contribute to the understanding of the molecular basis of limb development and the identification of human obesity-related genes. 22 refs., 1 fig., 4 tabs.

  18. Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

    PubMed Central

    Sapp, Julie C.; Nishimura, Darryl; Johnston, Jennifer J.; Stone, Edwin M.; Héon, Elise; Sheffield, Val C.; Biesecker, Leslie G.

    2011-01-01

    Purpose Bardet-Biedl syndrome is a pleiotropic multiple anomaly syndrome inherited in an autosomal recessive pattern. It is now known that this disorder has locus heterogeneity, with causative mutations identified in as many as 14 genes. The aim of this study was to derive locus-specific recurrence risk estimates for family members of a proband affected with BBS. Methods Mutation data from 187 probands affected with BBS were used. The authors counted the relative proportion of families with mutations at each of ten loci and estimated locus-specific carrier rates for mutations using Hardy-Weinberg principles and an aggregate population frequency of 1/100,000 for the phenotype. Locus-specific recurrence risks were calculated for relatives of an affected proband. Results Locus-specific carrier frequencies range from 1/250 to 1/2200, and the risks for an offspring of the sibling of an affected individual range from 1/1,500 to 1/13,000. The estimate of this risk derived under a locus homogeneity model is 1/960. Conclusion Variation of recurrence risks of this magnitude may have implications for genetic counseling of families with affected individuals, in particular about prenatal testing and other reproductive options. Similar analyses to determine locus-specific carrier frequencies for other phenotypes with significant locus heterogeneity may yield similarly relevant results. PMID:20949666

  19. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function.

    PubMed

    Yen, Hsan-Jan; Tayeh, Marwan K; Mullins, Robert F; Stone, Edwin M; Sheffield, Val C; Slusarski, Diane C

    2006-03-01

    Bardet-Biedl syndrome (BBS) is characterized by obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies as well as hypertension and diabetes. The nine known BBS genes do not appear to belong to the same functional category; yet mutation of these genes results in a nearly identical pleiotropic phenotype. Although the precise functions of the BBS proteins have yet to be determined, current data support a role in cilia function and intraflagellar transport. To gain insight into the biological processes controlled by BBS genes, we embarked on studies of six BBS orthologues from zebrafish. Knockdown of zebrafish bbs2, bbs4, bbs5, bbs6, bbs7 or bbs8 results in disruption of Kupffer's vesicle (KV), a ciliated organ thought to play a role in left-right patterning. KV defects are due to a progressive loss of cilia within the vesicle and result in subsequent alterations to organ laterality. We also note a specific defect altering retrograde melanosome transport. These studies are the first to comprehensively compare the diverse group of BBS genes in parallel and demonstrate a common role in intracellular trafficking, indicating that BBS proteins are involved in general organelle trafficking. PMID:16399798

  20. Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet-Biedl syndrome.

    PubMed

    Guran, Tulay; Ekinci, Gazanfer; Atay, Zeynep; Turan, Serap; Akcay, Teoman; Bereket, Abdullah

    2011-01-01

    To describe the structural changes in the pituitary gland and accompanying pituitary hormonal problems in patients with Bardet-Biedl syndrome (BBS), 11 patients with BBS (median age: 12.8 years, range: 2.5-17.8 years; four boys and seven girls) have been examined for the anomalies of the pituitary region detected by MRI. Accompanying clinical, biochemical, and hormonal profiles concerning the pituitary function of the patients have also been investigated. We have found a high incidence of pituitary anomalies on MRI (63%) and a considerable percentage of hormonal derangements (45%) accompanying these. Among the structural pituitary abnormalities, tumoral changes (n=2), hypoplastic hypophysis, and/or sella (n=4) and rathke cleft cyst (n=2) were detected, whereas disturbances of the pituitary hormones such as growth hormone deficiency, hyperprolactinemia, hypogonadotrophic hypogonadism, and central precocious puberty accompanied the pituitary anomalies in these patients. Pituitary abnormalities and pituitary hormonal dysfunction are common findings and, therefore, should be included in the diagnostic criteria of BBS. PMID:20966747

  1. Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

    PubMed

    Brinckman, Danielle D; Keppler-Noreuil, Kim M; Blumhorst, Catherine; Biesecker, Leslie G; Sapp, Julie C; Johnston, Jennifer J; Wiggs, Edythe A

    2013-12-01

    Forty-two patients with a clinical diagnosis of Bardet-Biedl syndrome ages 2-61 years were given a neuropsychological test battery to evaluate cognitive, sensory, and behavioral functioning. These tests included the Wechsler scales of intelligence, Rey Auditory Verbal Learning Test, Boston Naming Test, D-KEFS Verbal Fluency Test, D-KEFS Color-Word Interference Test, D-KEFS Sorting Test, Wide Range Achievement Test: Math and Reading Subtests, Purdue Pegboard, The University of Pennsylvania Smell Identification Test, Social Communication Questionnaire, Social Responsiveness Scale, and Behavior Assessment System for Children, Second Edition, Parent Rating Scale. On the age appropriate Wechsler scale, the mean Verbal Comprehension was 81 (n = 36), Working Memory was 81 (n = 36), Perceptual Reasoning was 78 (n = 24) and Full Scale IQ was 75 (n = 26). Memory for a word list (Rey Auditory Verbal Learning Test) was in the average range with a mean of 89 (n = 19). Fine motor speed was slow on the Purdue with mean scores 3-4 standard deviations below norms. All subjects were microsmic on the University of Pennsylvania Smell Identification Test. Of these 42 patients, only 6 were able to complete all auditory and visual tests; 52% were unable to complete the visual tests due to impaired vision. A wide range of behavioral issues were endorsed on questionnaires given to parents. Most had social skill deficits but no pattern of either externalizing or internalizing problems. We identify a characteristic neuro-behavioral profile in our cohort comprised of reduced IQ, impaired fine-motor function, and decreased olfaction. PMID:24194441

  2. Ciliopathy Is Differentially Distributed in the Brain of a Bardet-Biedl Syndrome Mouse Model

    PubMed Central

    Agassandian, Khristofor; Patel, Milan; Agassandian, Marianna; Steren, Karina E.; Rahmouni, Kamal; Sheffield, Val C.; Card, J. Patrick

    2014-01-01

    Bardet-Biedl syndrome (BBS) is a genetically heterogeneous inherited human disorder displaying a pleotropic phenotype. Many of the symptoms characterized in the human disease have been reproduced in animal models carrying deletions or knock-in mutations of genes causal for the disorder. Thinning of the cerebral cortex, enlargement of the lateral and third ventricles, and structural changes in cilia are among the pathologies documented in these animal models. Ciliopathy is of particular interest in light of recent studies that have implicated primary neuronal cilia (PNC) in neuronal signal transduction. In the present investigation, we tested the hypothesis that areas of the brain responsible for learning and memory formation would differentially exhibit PNC abnormalities in animals carrying a deletion of the Bbs4 gene (Bbs4-/-). Immunohistochemical localization of adenylyl cyclase-III (ACIII), a marker restricted to PNC, revealed dramatic alterations in PNC morphology and a statistically significant reduction in number of immunopositive cilia in the hippocampus and amygdala of Bbs4-/- mice compared to wild type (WT) littermates. Western blot analysis confirmed the decrease of ACIII levels in the hippocampus and amygdala of Bbs4-/- mice, and electron microscopy demonstrated pathological alterations of PNC in the hippocampus and amygdala. Importantly, no neuronal loss was found within the subregions of amygdala and hippocampus sampled in Bbs4-/- mice and there were no statistically significant alterations of ACIII immunopositive cilia in other areas of the brain not known to contribute to the BBS phenotype. Considered with data documenting a role of cilia in signal transduction these findings support the conclusion that alterations in cilia structure or neurochemical phenotypes may contribute to the cognitive deficits observed in the Bbs4-/- mouse mode. PMID:24695551

  3. Hyperactive Neuroendocrine Secretion Causes Size, Feeding, and Metabolic Defects of C. elegans Bardet-Biedl Syndrome Mutants

    PubMed Central

    Lee, Brian H.; Liu, Jason; Wong, Daisy; Srinivasan, Supriya; Ashrafi, Kaveh

    2011-01-01

    Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, short stature, cognitive impairment, and developmental delays. Disruptions of BBS proteins in a variety of organisms impair cilia formation and function and the multi-organ defects of BBS have been attributed to deficiencies in various cilia-associated signaling pathways. In C. elegans, bbs genes are expressed exclusively in the sixty ciliated sensory neurons of these animals and bbs mutants exhibit sensory defects as well as body size, feeding, and metabolic abnormalities. Here we show that in contrast to many other cilia-defective mutants, C. elegans bbs mutants exhibit increased release of dense-core vesicles and organism-wide phenotypes associated with enhanced activities of insulin, neuropeptide, and biogenic amine signaling pathways. We show that the altered body size, feeding, and metabolic abnormalities of bbs mutants can be corrected to wild-type levels by abrogating the enhanced secretion of dense-core vesicles without concomitant correction of ciliary defects. These findings expand the role of BBS proteins to the regulation of dense-core-vesicle exocytosis and suggest that some features of Bardet-Biedl Syndrome may be caused by excessive neuroendocrine secretion. PMID:22180729

  4. Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10

    Microsoft Academic Search

    Dominic R A White; Anuradha Ganesh; Darryl Nishimura; Eleanor Rattenberry; Shakeel Ahmed; Ursula M Smith; Shanaz Pasha; Sandy Raeburn; Richard C Trembath; Anna Rajab; Fiona Macdonald; Eyal Banin; Edwin M Stone; Colin A Johnson; Val C Sheffield; Eamonn R Maher

    2007-01-01

    Bardet–Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and renal failure. In order to identify novel BBS loci we undertook autozygosity mapping studies using high-density SNP microarrays in consanguineous kindreds. We mapped a BBS locus to a 10.1 Mb region at 12q15–q21.2 in a large Omani BBS family

  5. Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

    PubMed Central

    2011-01-01

    Background Bardet-Biedl syndrome (BBS) is a heterogeneous human disorder inherited in an autosomal recessive pattern, and characterized by the primary findings of obesity, polydactyly, hypogonadism, and learning and behavioural problems. BBS mouse models have a neuroanatomical phenotype consisting of third and lateral ventriculomegaly, thinning of the cerebral cortex, and reduction in the size of the corpus striatum and hippocampus. These abnormalities raise the question of whether humans with BBS have a characteristic morphologic brain phenotype. Further, although behavioral, developmental, neurological and motor defects have been noted in patients with BBS, to date, there are limited reports of brain findings in BBS. The present study represents the largest systematic evaluation for the presence of structural brain malformations and/or progressive changes, which may contribute to these functional problems. Methods A case-control study of 21 patients, most aged 13-35 years, except for 2 patients aged 4 and 8 years, who were diagnosed with BBS by clinical criteria and genetic analysis of known BBS genes, and were evaluated by qualitative and volumetric brain MRI scans. Healthy controls were matched 3:1 by age, sex and race. Statistical analysis was performed using SAS language with SAS STAT procedures. Results All 21 patients with BBS were found to have statistically significant region- and tissue-specific patterns of brain abnormalities. There was 1) normal intracranial volume; 2) reduced white matter in all regions of the brain, but most in the occipital region; 3) preserved gray matter volume, with increased cerebral cortex volume in only the occipital lobe; 4) reduced gray matter in the subcortical regions of the brain, including the caudate, putamen and thalamus, but not in the cerebellum; and 5) increased cerebrospinal fluid volume. Conclusions There are distinct and characteristic abnormalities in tissue- and region- specific volumes of the brain in patients with BBS, which parallel the findings, described in BBS mutant mouse models. Some of these brain abnormalities may be progressive and associated with the reported neurological and behavioral problems. Further future correlation of these MRI scan findings with detailed neurologic and neuropsychological exams together with genotype data will provide better understanding of the pathophysiology of BBS. PMID:21794117

  6. Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome.

    PubMed

    Baker, Kate; Northam, Gemma B; Chong, W K; Banks, Tina; Beales, Philip; Baldeweg, Torsten

    2011-01-01

    Cilia are ubiquitous cell surface organelles with diverse roles from embryogenesis to adult life. The neurodevelopmental functions of the cilium are currently under investigation in animal systems, but relevance to human brain development remains uncertain. We present the first systematic investigation of structural neuroanatomy in a ciliopathy-Bardet-Biedl syndrome (BBS). Qualitative and quantitative aspects of brain structure were evaluated via magnetic resonance imaging in 10 patients with BBS (ages 14-28 years). In comparison to age and gender-matched healthy controls, BBS patients had significantly reduced total gray matter (GM) volume but no total white matter (WM) or cerebrospinal fluid volume changes. Voxel-based morphometric analysis indicated regional GM volume loss bilaterally in the anterior temporal lobes and in the medial orbitofrontal cortex, and WM volume loss in the right inferior longitudinal fasciculus. Region-of-interest measurements revealed reduced volume of the hippocampus. Two patients were found to have ventriculomegaly. Global GM reduction and regional volume reductions in the temporal lobe may underlie the learning disabilities and behavioral problems experienced by some patients with BBS. These findings are consistent with previous observations in mouse models of BBS, and further implicate the cilium in neurodevelopmental processes relevant to human cognitive function. PMID:21204204

  7. Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome

    PubMed Central

    Bee, Yong Mong; Chawla, Mayank; Zhao, Yi

    2015-01-01

    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder known to be caused by mutations in at least 19 BBS genes. We report the genetic analysis of a patient with indisputable features of BBS including cardinal features such as postaxial polydactyly, retinitis pigmentosa, obesity, and kidney failure. Taking advantage of next-generation sequencing technology, we applied whole exome sequencing (WES) with Sanger direct sequencing to the proband and her unaffected mother. A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother. This mutation is not currently found in the dsSNP and 1000 Genome SNP databases and is predicted to be disease causing by in silico analysis. This study highlights the potential for a rapid and precise detection of disease causing gene using WES in genetically heterogeneous disorders such as BBS.

  8. Bardet-Biedl syndrome: Mapping of a new locus to chromosome 3 and fine-mapping of the chromosome 16 linked locus

    SciTech Connect

    Kwitek-Black, A.E.; Rokhlina, T.; Nishimura, D.Y. [Univ. of Iowa, Iowa City, IA (United States)] [and others

    1994-09-01

    Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by mental retardation, post-axial polydactyly, obesity, retinitis pigmentosa, and hypogonadism. Other features of this disease include renal and cardiovascular abnormalities and an increased incidence of hypertension and diabetes mellitus. The molecular etiology for BBS is not known. We previously linked BBS to chromosome 16q13 in a large inbred Bedouin family, and excluded this locus in a second large inbred Bedouin family. We now report linkage of this second family to markers on chromosome 3q, proving non-allelic, genetic heterogeneity in the Bedouin population. A third large inbred Bedouin family was excluded from the 3q and 16q BBS loci. In addition to the identification of a new BBS locus on chromosome 3, we have identified and utilized additional short tandem repeat polymorphisms (STRPs) in the 16q BBS region to narrow the candidate interval to 3 cM. Additional recombinant individuals will allow further refinement of the interval. Identification of genes causing BBS has the potential to provide insight into diverse genetic traits and disease processes including obesity, hypertension, diabetes, retinal degeneration, and abnormal limb, renal and cardiac development.

  9. Genetics Home Reference: Bardet-Biedl syndrome

    MedlinePLUS

    ... signaling pathways. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and ... during development and lead to abnormalities of sensory perception. Researchers believe that defective cilia are responsible for ...

  10. Bardet–Biedl and Jeune Syndromes

    Microsoft Academic Search

    Aoife M. Waters; Philip L. Beales

    \\u000a Congenital fibrocystic liver diseases (CFLD) are a heterogeneous group of diseases that include a spectrum of features ranging\\u000a from hepatic fibrosis, intrahepatic biliary tract dilatation to extrahepatic biliary tract dilatation, and liver cysts. CFLD\\u000a frequently occur in association with renal disease such as autosomal recessive and autosomal dominant polycystic kidney disease\\u000a (ARPKD, ADPKD) and nephronophthisis (NPHP). Recent insight into the

  11. Genetics Home Reference: McKusick-Kaufman syndrome

    MedlinePLUS

    ... Testing Registry Genetic testing PubMed Recent literature OMIM Genetic disorder catalog Conditions > McKusick-Kaufman syndrome On this page: ... Kaufman syndrome overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. Bardet-Biedl syndrome has several ...

  12. What have rare genetic syndromes taught us about the pathophysiology of the common forms of obesity?

    Microsoft Academic Search

    Mihaela Stefan; Robert D. Nicholls

    2004-01-01

    Obesity is a central feature for several congenital syndromes, including Prader-Willi, Angelman, Bardet-Biedl, Cohen, Alström\\u000a andBörjeson-Forssman-Lehmann syndromes, and Albright's hereditary osteodystrophy. Although a role for the central nervous\\u000a system, including the hypothalamus-pituitary axis, has been suggested for the etiology of obesity in these syndromes, the\\u000a pathophysiologic pathways are as yet not well defined, and in many cases may identify currently

  13. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic

    E-print Network

    Paris-Sud XI, Université de

    impairs ciliogenesis, activates the glycogen synthase kinase 3 pathway, and induces peroxisome in the ciliated central nervous system neurons (9) that regulate fat storage has been explored and has gained

  14. Plasmolipin: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome

    Microsoft Academic Search

    Michael Hamacher; Ulrich Pippirs; Angelika Köhler; Hans Werner Müller; Frank Bosse

    2001-01-01

    .   Plasmolipin is a membrane protein and belongs to the tetraspan molecule (4TM) family, an expanding group of myelin proteins\\u000a many of which could be linked to human hereditary demyelinating neuropathies. We have cloned and sequenced the mouse plasmolipin\\u000a gene, revealing the common organization of the 4TM gene group with four exons and a large first intron. Western blot analysis

  15. Light-Dependent Phosphorylation of Bardet Biedl Syndrome 5 in Photoreceptor Cells Modulates its Interaction with Arrestin1

    PubMed Central

    Smith, Tyler S.; Spitzbarth, Benjamin; Li, Jian; Dugger, Donald R.; Stern-Schneider, Gabi; Sehn, Elisabeth; Bolch, Susan N.; McDowell, J. Hugh; Tipton, Jeremiah; Wolfrum, Uwe; Smith, W. Clay

    2013-01-01

    Arrestins are dynamic proteins which move between cell compartments triggered by stimulation of G-protein-coupled receptors. Even more dynamically in vertebrate photoreceptors, arrestin1 (Arr1) moves between the inner and outer segments according to the lighting conditions. Previous studies have shown that the light-driven translocation of Arr1 in rod photoreceptors is initiated by rhodopsin through a phospholipase C/protein kinase C (PKC) signaling cascade. The purpose of this study is to identify the PKC substrate that regulates the translocation of Arr1. Mass spectrometry was used to identify the primary phosphorylated proteins in extracts prepared from PKC-stimulated mouse eye cups, confirming the finding with in vitro phosphorylation assays. Our results show that BBS5 is the principal protein phosphorylated either by phorbol ester stimulation or by light stimulation of PKC. Via immunoprecipitation of BBS5 in rod outer segments, Arr1 was pulled down; phosphorylation of BBS5 reduced this co-precipitation of Arr1. Immunofluorescence and immunoelectron microscopy showed that BBS5 principally localizes along the axonemes of rods and cones, but also in photoreceptor inner segments, and synaptic regions. Our principal findings in this study are three-fold. First, we demonstrate that BBS5 is post-translationally regulated by phosphorylation via PKC, an event that is triggered by light in photoreceptor cells. Second, we find a direct interaction between BBS5 and Arr1, an interaction that is modulated by phosphorylation of BBS5. Finally, we show that BBS5 is distributed along the photoreceptor axoneme, co-localizing with Arr1 in the dark. These findings suggest a role for BBS5 in regulating light-dependent translocation of Arr1 and a model describing its role in Arr1 translocation is proposed. PMID:23817741

  16. Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins

    Microsoft Academic Search

    Jacqueline S. Domire; Jill A. Green; Kirsten G. Lee; Andrew D. Johnson; Candice C. Askwith; Kirk Mykytyn

    Primary cilia are nearly ubiquitous cellular appendages that provide important sensory and signaling functions. Ciliary dysfunction\\u000a underlies numerous human diseases, collectively termed ciliopathies. Primary cilia have distinct functions on different cell\\u000a types and these functions are defined by the signaling proteins that localize to the ciliary membrane. Neurons throughout\\u000a the mammalian brain possess primary cilia upon which certain G protein-coupled

  17. Selected High Impact Publications: "Triallelic inheritance in Bardet-Biedl Syndrome, a mendelian recessive disorder.", N., Ansley, S.J.,

    E-print Network

    of the sex chromosomes of brown trout (Salmo trutta) and their comparison with the corresponding chromosomes as of January 3, 2012) 2011 "A dense SNP-based linkage map for Atlantic salmon (Salmo salar) reveals extended Atlantic salmon (Salmo salar)." Johnstone, K.A., Lubieniecki, K.P., Koop, B.F. and Davidson, W.S. (2011

  18. UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

    ClinicalTrials.gov

    2015-01-08

    Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

  19. Alström syndrome: genetics and clinical overview.

    PubMed

    Marshall, Jan D; Maffei, Pietro; Collin, Gayle B; Naggert, Jürgen K

    2011-05-01

    Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Symptoms first appear in infancy and progressive development of multi-organ pathology leads to a reduced life expectancy. Variability in age of onset and severity of clinical symptoms, even within families, is likely due to genetic background.Alström syndrome is caused by mutations in ALMS1, a large gene comprised of 23 exons and coding for a protein of 4,169 amino acids. In general, ALMS1 gene defects include insertions, deletions, and nonsense mutations leading to protein truncations and found primarily in exons 8, 10 and 16. Multiple alternate splice forms exist. ALMS1 protein is found in centrosomes, basal bodies, and cytosol of all tissues affected by the disease. The identification of ALMS1 as a ciliary protein explains the range of observed phenotypes and their similarity to those of other ciliopathies such as Bardet-Biedl syndrome.Studies involving murine and cellular models of Alström syndrome have provided insight into the pathogenic mechanisms underlying obesity and type 2 diabetes, and other clinical problems. Ultimately, research into the pathogenesis of Alström syndrome should lead to better management and treatments for individuals, and have potentially important ramifications for other rare ciliopathies, as well as more common causes of obesity and diabetes, and other conditions common in the general population. PMID:22043170

  20. Nature author index Aalto, R. Episodic sediment accumulation on Amazonian flood

    E-print Network

    Cai, Long

    East: trying to break down the barriers, Correspon- dence, 425, 899 Allen, A R. Possible or probable Bardet­Biedl syndrome (with Badano, J L, Blacque, O E, Hill, J, Hoskins, B E, Leitch, C C, Kim, J C, Ross

  1. DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.

    PubMed Central

    Gillessen-Kaesbach, G; Gross, S; Kaya-Westerloh, S; Passarge, E; Horsthemke, B

    1995-01-01

    Using a test based on parent of origin specific DNA methylation at the D15S63 (PW71) locus, we studied 385 patients (aged 1 to 36 years) for diagnostic confirmation of Prader-Willi syndrome (PWS) and 65 infants (aged 0 to 12 months) with severe hypotonia of unknown cause. Fifty eight of 385 patients were examined personally; 28/58 patients had PWS and lacked the paternal PW71 band and 30/58 patients, who did not have PWS, had a normal methylation pattern. In five of these patients, a differential diagnosis was made (Ohdo-like blepharophimosis syndrome, Alstrøm syndrome, Cohen syndrome, Bardet-Biedl syndrome, and pseudohypoparathyroidism). A total of 327/385 blood samples was sent to us from outside. The test confirmed the diagnosis of PWS in 112/327 patients. Most of the other 215 patients lacked the major diagnostic criteria such as neonatal hypotonia, feeding problems, characteristic facies, and hypogenitalism. On the other hand, 29/65 hypotonic infants tested positive for PWS. We conclude that the PW71 methylation test detects most, if not all, patients with typical PWS and that PWS is often not recognised in infants and wrongly suspected in obese and mentally retarded patients. Images PMID:7760327

  2. Clinical and Molecular Investigations Into Ciliopathies

    ClinicalTrials.gov

    2015-01-06

    Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

  3. Klinefelter syndrome: Case report

    PubMed Central

    CAPASSO, F.; PANETTA, F.; IERARDO, G.; PARISELLA, V.; POLIMENI, A.

    2010-01-01

    SUMMARY Objectives. The aim of this work is to describe the problems of child dentistry affected by Klinefelter's syndrome. Methodos. Through the presentation of a clinical case that was followed by a Pediatric Dentistry, University Sapienza of Rome. Result. Interceptive therapy aims to eliminate the functional interference that occurs during growth. Conclusion. For this reason it’s a must for the dentist to carefully monitor the oral health of the small patient immediately. PMID:23285366

  4. Asperger's syndrome: a case report

    PubMed Central

    Goodman, Carol M.

    1987-01-01

    A case report is presented of an 11-year-old boy who has been diagnosed as having Asperger's syndrome. There follows a review of the clinical features, course, prognosis and management of this condition. PMID:2453672

  5. Molecular Biology of the Cell Vol. 17, 48014811, November 2006

    E-print Network

    Swoboda, Peter

    Molecular Biology of the Cell Vol. 17, 4801­4811, November 2006 Caenorhabditis elegans DYF-2; and § Department of Cell Biology, University of Alabama at Birmingham Medical Center, Birmingham, AL 35294 on these observations, and the analysis of DYF-2 movement in a Bardet­Biedl syndrome mutant with partially disrupted IFT

  6. [Gillespie syndrome: 2 familial cases].

    PubMed

    Boughamoura, L; Yacoub, M; Abroug, M; Chabchoub, I; Bouguezzi, R; Charfeddine, L; Amri, F; Essoussi, A-S

    2006-10-01

    We report 2 familial cases of Gillespie syndrome in an 8-year-old girl and her brother 16 months old. They had both congenital aniridia, cerebellar ataxia and mental retardation. In the girl, pupillar dilation in the 2 eyes and delay in different milestones development were elicited at 2 years. She was summoned at the birth of her brother that had pronounced floppiness and the same ocular abnormalities. Ophtalmological exam confirmed partial and bilateral aniridia in both sibs. Brain MRI showed vermis atrophy in the girl and an hypoplasic inferior vermis in her brother. Apropos of these case reports, we make a brief update about this extremely rare genetic syndrome. PMID:16919425

  7. [Silver syndrome--case report].

    PubMed

    Kocha?ski, Andrzej; Dierick, Ines; Timmerman, Vincent; Hausmanowa-Petrusewicz, Irena

    2007-01-01

    Silver syndrome (Silver spastic paraplegia syndrome) is a rare disorder of the peripheral nervous system that combines features of spastic paraparesis and peripheral neuropathy. The underlying genetic defects are two mutations in the BSCL2 gene which have been described in several families. Silver syndrome--related to the N88S mutation in the BSCL2 gene--is characterized by a spectrum of clinical findings. The coexistence of sensory fiber damage and motor deficit leads to the diagnosis of Charcot-Marie-Tooth disease in some patients, while others are diagnosed with spastic paresis due to predominant pyramidal symptoms. If the symptoms are limited to the motor deficit, hereditary motor neuropathy is diagnosed in some cases. In this report, we describe a case of the Silver syndrome in a Polish family that has been verified by genetic testing. Due to the lack of pyramidal symptoms and slightly expressed sensory fiber damage (in neurographic studies), motor neuropathy type of the Silver syndrome with minor sensory component was diagnosed. PMID:18224579

  8. Robinow Syndrome: a case report.

    PubMed

    Gulcan, H; Akinci, A; Aktar, A

    2005-01-01

    We report a case with Robinow syndrome which has been rarely reported in the literature. A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as Robinow syndrome. Elevated levels of both basal and stimulated testosterone and dihydrotestosterone were found along with normal baseline levels of gonadotropins. These endocrinologic studies were suggestive for an androgen insensitivity. Mental and motor development of the infant were normal at 3 and 6 months of age. Because of the high level of consanguineous marriages in Turkey, we may expect a higher incidence of the autosomal recessive form of the syndrome. This gives a high recurrence risk and makes prenatal diagnosis an important option for future pregnancies in the families. PMID:16259327

  9. A Case of Rapunzel Syndrome

    PubMed Central

    Nam, Chang Woo

    2013-01-01

    Rapunzel syndrome refers to a very rare condition in which swallowed hair forms a gastric trichobezoar that has a long tail extending into the small bowel. We describe a case of Rapunzel syndrome in an 8-year-old girl who presented with abdominal mass, epigastric pain and vomiting. Abdominal computed tomography scan showed a markedly dilated stomach filled with coarse heterogeneous materials. Upper gastrointestinal endoscopy revealed a huge hairy ball with a tail extending through the pylorus. We performed a surgical laparotomy and successfully removed a huge trichobezoar with a long tail extending into the middle portion of jejunum. Psychiatric consultation with review showed her past history of trichotillomania and trichophagia 4 years ago. But her parents denied further psychiatric therapy and she was lost to the follow-up. Rapunzel syndrome should be included in the differential diagnosis in children with chronic abdominal pain and trichophagia. PMID:24010117

  10. Crouzon's Syndrome: A Case Report

    PubMed Central

    Jyothsna, M; Ahmed, Syed Basheer; Lakshmi, K Sree

    2013-01-01

    ABSTRACT Crouzon's syndrome (CS) is a rare autosomal dominant condition with multiple mutations of the fibroblast growth factor receptor (FGFR2) gene, which accounts for 4.8% of all cases of craniosynostosis. It is characterized by premature closure of cranial sutures, cranial deformities, midface hypoplasia, relative mandibular prognathism, hypertelorism, proptosis, strabismus and short upper lip, crowding of teeth, pseudocleft or sometimes cleft palate and other associated abnormalities. The CS can vary in severity from mild presentation to severe forms involving multiple cranial sutures. We report a case of CS in 11-year-old boy. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KS, Crouzon's Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(1):33-37. PMID:25206185

  11. A case of Kallmann syndrome

    Microsoft Academic Search

    Maria Luisa Cecilia R Arkoncel; Francis Raymond P Arkoncel; Frances Lina Lantion-Ang

    2011-01-01

    Kallmann syndrome (KS), a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone producing neurons.The authors report a case of a 26-year-old Filipino male who presented with eunuchoid body proportion, absence of facial and axillary hair and sparse pubic hair, micropenis and bilaterally descended prepubertal

  12. Kousseff syndrome: A fifth case?

    SciTech Connect

    Laux, R.A. [Foundation for Blood Research, Portland, ME (United States); Hamilton, W.; Pinette, M. [Maine Medical Center, Portland, ME (United States)] [and others

    1994-09-01

    Kousseff originally described three siblings with an open sacral myelomeningocele, conotruncal cardiac malformations, low-set, posteriorly rotated ears, retrognathia, a short neck with a low posterior hairline, and renal agenesis as a new autosomal recessive condition. Open neural tube lesions and complex conotruncal cardiac defects are relatively common malformations, both as isolated defects and individually as components of syndromes, but they have been found together only rarely, as part of chromosomal syndromes or following maternal exposures. Toriello et al. reported a fourth case and suggested the eponym Kousseff syndrome for myelomeningcocele, conotruncal defects and minor facial abnormalies. We report a fifth probable case. This male infant was born by spontaneous vaginal delivery at 38 weeks gestation to a 23-year-old G{sub 2}P{sub 1001} mother. Pregnancy was complicated by an elevated alpha-fetoprotein at 16 weeks gestation, followed by an ultrasound diagnosis of an open disease. After birth, physical examination also revealed dysmorphic facies, with a bulbous nose and low-set, posteriorly rotated ears, bilateral 5th finger clinodactyly and hypotonia. Echocardiogram demonstrated complex conotruncal malformations. The patient underwent closure of the myelomeningocele but died at one month of age. Chromosomal analysis was normal (46,XY). Because conotruncal heart defects have been associated with deletions on chromosome 22, FISH analysis using a probe for the DiGeorge syndrome on the long arm of chromosome 22 was performed. It indicated no detectable deletion within this critical region on 22q11. Nonetheless there remains the possibility of a gene (or genes) located on 22q that could produce findings of this rare multiple congenital anomaly syndrome when disrupted. Therefore, further investigation on this chromosome is warranted.

  13. Inherited Retinal Degenerative Disease Registry

    ClinicalTrials.gov

    2015-05-01

    Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

  14. A rare case report: SCARF syndrome

    PubMed Central

    Rahimpour, Masoume; Sohrabi, Mohammad bager; Kalhor, Sulmaz; Khosravi, Hossein ali; Zolfaghari, Poone; Yahyaei, Elahe

    2014-01-01

    Key Clinical Message SCARF syndrome is a very rare syndrome that so far only two cases have been reported in the papers. In this article, a 3-month-old female who exhibited SCARF syndrome presented with multiple congenital abnormalities and problems at Imam Hossein hospital of Shahroud. PMID:25356252

  15. Apert syndrome with omphalocele: a case report.

    PubMed

    Ercoli, Gabriel; Bidondo, María Paz; Senra, Blanca Cristina; Groisman, Boris

    2014-09-01

    Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele. PMID:25045033

  16. Lemierre Syndrome: A Case of Postanginal Sepsis

    PubMed Central

    Seo, Young Tak; Kim, Ji Hoon; Ha, Byung Wook; Choi, Hyo Sun; Kim, Yong Tai; Ham, Young Hwan

    2007-01-01

    Lemierre syndrome is a rare disease that's characterized by internal jugular vein thrombosis and septic emboli. These symptoms typically develop after acute oropharyngeal infection by Fusobacterium necrophorum1). Although this syndrome is less frequently seen in modern times due to the availability of antibiotics, physicians must be aware of the syndrome in order to initiate prompt antibiotics therapy, including coverage of the anerobic organisms. We discuss here the case of an 18-year-old female with Lemierre syndrome and we review the relevant literature on this syndrome. PMID:17939341

  17. Wiedemann–Rautenstrauch Syndrome: First Indian Case

    Microsoft Academic Search

    Meenu Pandey; Neeraja Gupta; Madhulika Kabra; Ajay Kumar; Vikram Datta; Arvind Saili

    Wiedemann–Rautenstrauch syndrome, also known as neonatal progeroid syndrome (NPS), is an extremely rare genetic disorder characterised\\u000a by an aged appearance at birth. About thirty cases have been reported in the literature. The authors report first Indian baby\\u000a with Wiedemann–Rautenstrauch syndrome with the lowest birth weight documented in such a patient, who is still surviving at\\u000a 24 months. This ethnicity has not

  18. Two new cases with Costello syndrome.

    PubMed

    Aytekin, Sema; Alyamac, Gokcen

    2013-08-01

    Costello syndrome (CS) was described in 1977 by Costello who reported two unrelated children with a new syndrome comprising short stature, redundant skin of the neck, palms, soles, and fingers, curly hair, papillomata around the mouth and nares, and mental retardation. Several additional cases have been reported since then. Herein we report two patients with Costello syndrome; one of these patients had associated mesenteric cyst. PMID:24021445

  19. Papillon-Lefevre syndrome: a case report.

    PubMed

    Subramaniam, P; Mathew, S; Gupta, K K

    2008-12-01

    Papillon-Lefevre syndrome is a rare autosomal recessive genetic disorder. The clinical manifestations include palmer planter hyperkeratosis with precocious progressive periodontal disease that results in premature exfoliation of primary and permanent dentitions. Patients are often edentulous at an early age. This is a case report of prosthodontic rehabilitation of a 15-year-old girl with Papillon-Lefevre syndrome. PMID:19008627

  20. Williams 'elfin facies' Syndrome: A Case Study.

    ERIC Educational Resources Information Center

    Swartz, Stanley L.

    A review of the research literature related to Williams 'elfin facies' Syndrome (a condition including mental retardation and cardiac anomalies), a case study, and the results of an early intervention program, are reported. The medical aspects of the syndrome have been reported with sufficient consistency for a profile to emerge. Psychological…

  1. Exophthalmos Myxedema Acropachy Syndrome: A Case Report

    PubMed Central

    ZHAO, Qian; CHENG, Yao; YANG, Mengxue; LI, Xianwen

    2014-01-01

    Abstract Exophthalmos, myxedema, and acropachy are collectively named Exophthalmos myxedema acropachy (EMA) syn-drome, which is a rare syndrome associated with hypertcardiotrophia. Among patients with hyperthyreosis, EMA has an incidence less than 1%. Here, we reported a case of EMA and explored its diagnosis and treatment.

  2. Late development of Nicolau syndrome: case report.

    PubMed

    Silva, Alyne Mendonça Marques; Ton, Angelo; Loureiro, Thaisa Faustini; Agrizzi, Brunella Lemos

    2011-01-01

    Nicolau syndrome also known as Embolia cutis medicamentosa and Livedoid dermatitis is a rare complication characterized by tissue necrosis that occurs after injection of medicines. We describe a case of late development of Nicolau syndrome following intra-articular infiltration with corticosteroid. PMID:21437542

  3. A fatal case of Perthes syndrome

    PubMed Central

    Jobé, Jérôme; Ghuysen, Alexandre; Hartstein, Gary; D’orio, Vincent

    2013-01-01

    Perthes syndrome, or traumatic asphyxia, is a clinical syndrome associating cervicofacial cyanosis with cutaneous petechial haemorrhages and subconjonctival bleeding resulting from severe sudden compressive chest trauma. Deep inspiration and a Valsalva maneuver just prior to rapid and severe chest compression, are responsible for the development of this syndrome. Current treatment is symptomatic: urgent relief of chest compression and cardiopulmonary resuscitation if needed. Outcome may be satisfactory depending on the duration and severity of compression. Prolonged thoracic compression may sometimes lead to cerebral anoxia, irreversible neurologic damage and death. We report a fatal case of Perthes syndrome resulting from an industrial accident. PMID:24339667

  4. Apert's syndrome: Report of a rare case

    PubMed Central

    Bhatia, Parul V; Patel, Purv S; Jani, Yesha V; Soni, Naresh C

    2013-01-01

    Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counseling and early intervention form an essential part of treatment. Because of the paucity of reported cases in Indian literature and typical features in oral cavity, a dentist should be competent to diagnose and form a part of the multidisciplinary management team. Here, we report a case of a 14-year-old boy with AS. PMID:24250097

  5. Neu-Laxova syndrome: a case report.

    PubMed

    Roy, S; Begum, J; Sharifunnaher, B; Saha, A K; Afroza, S; Islam, M Z

    2014-01-01

    Neu-Laxova syndrome (NLS) is a rare lethal syndrome found in both consanguinous and non-consanguinous couple. This is characterized by terrible face with unusual craniofacial appearance with exophthalmos, spectrum of central nervous system malformation, like microcaphaly, hypoplastic cerebellum, cleft lip/palate, ichthyosis and oedema. The diagnosis is made on the basis of clinical parameter. We report a 4 hour old male term newborn with IUGR of Neu-Laxova syndrome presented with anencephaly, rudimentary cerebellum, exophthalmos of right eye, bilateral cleft lip and palate and cryptorchidism. Anencephaly and cryptorchidism are two recently reported findings of NLS. We are presenting this case in addition from Bangladesh to lend further support to those two new findings as component of Neu-Laxova syndrome. Outcome of this syndrome is not good. Most of the patients are died of infection within hours to days. PMID:24584393

  6. Williams–Campbell syndrome: a case report

    PubMed Central

    Konoglou, Maria; Porpodis, Konstantinos; Zarogoulidis, Paul; Loridas, Nikolaos; Katsikogiannis, Nikolaos; Mitrakas, Alexandros; Zervas, Vasilis; Kontakiotis, Theodoros; Papakosta, Despoina; Boglou, Panagiotis; Bakali, Stamatia; Courcoutsakis, Nikolaos; Zarogoulidis, Konstantinos

    2012-01-01

    Introduction Williams–Campbell syndrome, also known as bronchomalacia, is a rare disorder characterized by a deficiency of cartilage in subsegmental bronchi, leading to distal airway collapse and bronchiectasis. There have been few reports about patients affected by saccular bronchiectasis, paracicatricial emphysema, and diminished cartilage. These are all characteristic of Williams–Campbell syndrome. Case presentation This report presents a 57-year-old woman with progressive dyspnea, cough, sputum production, and fever. The clinical and laboratory examination revealed that the patient had a respiratory infection due to bronchiectasis caused by Williams–Campbell syndrome, which was undiagnosed in the patient until then. Conclusion Although a rare syndrome, when patients’ signs and symptoms include recurrent respiratory infections, bronchiectasis, productive cough, and dyspnea, Williams–Campbell syndrome should be included in the differential diagnosis. PMID:22287845

  7. [Wiskott-Aldrich syndrome: Case report].

    PubMed

    Pacheco-Rosas, Daniel; Pomerantz, Alan; Blachman-Braun, Ruben

    2015-06-01

    The Wiskott-Aldrich syndrome is a rare X-linked recessive immunodeficiency, with an estimated incidence of 3.5 to 5.2 cases per million males. It is characterizedby immunodeficiency, microthrombocytopenia and eczema. We present a 5-year-old Hispanic male, with a medical history of numerous infectious diseases, compromised health, chronic malnutrition, language delay and failure to thrive. An infrequent mutation in the Wiskott-Aldrich syndrome gene was found. PMID:25996331

  8. VURD Syndrome: Report of Three Cases.

    PubMed

    Hisamatsu, Eiji; Nakagawa, Yoshikiyo; Sugita, Yoshifumi

    2013-01-01

    Hoover and Duckett identified the relationship between valves, reflux, and dysplasia, commonly known as VURD (Posterior urethral valve, Unilateral vesicoureteral reflux, Renal dysplasia) syndrome. They noted preserved contralateral renal function in patients with unilateral reflux into a non-refluxing kidney. The proposed mechanism of this protection is that the refluxing collecting system acts as a pressure pop-off. Here we report three cases of VURD syndrome. PMID:24040595

  9. Sturge–Weber syndrome – A case report

    PubMed Central

    Shaikh, Shahid M.; Goswami, Mousumi; Singh, Sanjay; Singh, Darrel

    2015-01-01

    Sturge–Weber syndrome (SWS), also called as encephalotrigeminal angiomatosis is an uncommon congenital neurological disorder & frequent among the neurocutaneous syndromes specifically with vascular predominance. This disorder is characterized by facial capillary malformation & other neurological condition. The oral manifestations are gingival hemangiomatosis restricting to either side in upper and lower jaw, sometimes bilateral. We report a case of SWS with oral, ocular and neurological features. PMID:25853049

  10. Sturge-Weber syndrome - A case report.

    PubMed

    Shaikh, Shahid M; Goswami, Mousumi; Singh, Sanjay; Singh, Darrel

    2015-01-01

    Sturge-Weber syndrome (SWS), also called as encephalotrigeminal angiomatosis is an uncommon congenital neurological disorder & frequent among the neurocutaneous syndromes specifically with vascular predominance. This disorder is characterized by facial capillary malformation & other neurological condition. The oral manifestations are gingival hemangiomatosis restricting to either side in upper and lower jaw, sometimes bilateral. We report a case of SWS with oral, ocular and neurological features. PMID:25853049

  11. [Nelson's Syndrome: a case report].

    PubMed

    Cukier, Priscilla; Duch, Flávia Moretti; Teixeira, Manoel Jacobsen; Fragoso, Maria Candida B V; Pereira, Maria Adelaide A; Freire, Daniel Soares; Fonoff, Erich Talamoni; Costa, Márcia Helena Soares; Domenice, Sorahia; Lucon, Antonio Marmo; de Mendonça, Berenice B

    2007-02-01

    The aim of this article is to present and discuss several aspects of the pathogenesis, the clinical, hormonal, and imaging diagnosis, and the treatment of Nelson's syndrome, based on a typical patient's report, in whom several therapeutic approaches were shown to be ineffective. PMID:17435865

  12. Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

    Microsoft Academic Search

    H. M. Harville; S. Held; E. E. Davis; B. H. Diplas; R. A. Lewis; Z. U. Borochowitz; W. Zhou; M. Chaki; J. MacDonald; H. Kayserili; P. L. Beales; N. Katsanis; E. Otto; F. Hildebrandt

    2010-01-01

    BackgroundBardet–Biedl syndrome (BBS) is primarily an autosomal recessive disorder characterised by the five cardinal features retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity and hypogenitalism. In addition, renal cysts and other anomalies of the kidney and urinary tract can be present. To date, mutations in 12 BBS genes as well as in MKS1 and CEP290 have been identified as causing BBS.

  13. Rumination Syndrome in Ethiopia: A Case Study

    PubMed Central

    2014-01-01

    Eating disorders are commonly believed to be rare or nonexistent in Africa. However, due to exposure to Western culture, a rise in eating disorders among African women is reported in the literature. This case study describes a 17-year-old Ethiopian girl who meets the DSM-IV-TR and DSM-5 diagnostic criteria for bulimia nervosa and the Rome III Diagnostic Criteria for Functional Gastrointestinal Disorders criteria for rumination syndrome. The article discusses the diagnostic delays, the difficulties in terms of therapy, and the context determinants that—combined with individual psychopathological features—are thought to contribute to the disorders. Health professionals should be informed about the prevalence of eating disorders in Africa and, more specifically, of rumination syndrome in young women with normal intelligence. In light of this case study, it seems necessary to raise awareness with regard to the insufficient evidence on effective therapies for rumination syndrome in individuals without intellectual impairment. PMID:25667799

  14. Kounis syndrome: report of 5 cases.

    PubMed

    Gázquez, V; Dalmau, G; Gaig, P; Gómez, C; Navarro, S; Mercé, J

    2010-01-01

    Kounis syndrome has been defined as an acute coronary syndrome that manifests as unstable vasospastic or nonvasospastic angina, and even as acute myocardial infarction. It is triggered by the release of inflammatory mediators following an allergic insult. We report 5 patients attended at our hospital between January 2005 and May 2008 who were diagnosed with unstable angina or acute myocardial infarction-according to analytical parameters, electrocardiographic abnormalities, and/or coronary angiography--in the context of an anaphylactic episode. Age at the time of the episode, age ranged between 50 and 68 years. The results of an allergology study revealed the causal agents to be drugs in 4 cases (nonsteroidal anti-inflammatory drugs and omeprazole) and food in 1 case (kiwi). Coronary disease of a blood vessel was observed in 2 patients. Serious allergic reactions may be the cause of acute coronary syndrome in patients with healthy or altered coronary arteries and no cardiovascular risk factors. PMID:20461972

  15. Pierre-Robin syndrome: a case report

    Microsoft Academic Search

    Andreea Chiriac; Anja Dawson; Martin Krapp; Roland Axt-Fliedner

    2008-01-01

    We report a case of a fetus diagnosed with micro-retrognathism at routine ultrasound examination in the 22nd week of gestation.\\u000a The diagnosis of Pierre-Robin syndrome was made postnatally. The possible differential diagnoses and the main complications\\u000a of retrognathism are reviewed.

  16. A new case of TEMPI syndrome

    PubMed Central

    Mohammadi, Farnaz; Wolverson, Michael K.; Bastani, Bahar

    2012-01-01

    We present an interesting case of a woman with new onset hypertension and abdominal fullness who was found to have huge bilateral perinephric fluid collections. Extensive workup revealed that she had secondary polycythemia, extensive truncal and proximal extremities telangiectasia and IgA-lambda monoclonal gammopathy of underdetermined significance. We believe that this is one of the rare cases consistent with the recently described TEMPI syndrome.

  17. Nicolau syndrome after intramuscular injection: 3 cases.

    PubMed

    Kim, Seok-Kwun; Kim, Tae-Heon; Lee, Keun-Cheol

    2012-05-01

    Nicolau syndrome is a rare complication of intramuscular injection consisting of ischemic necrosis of skin, soft tissue, and muscular tissue that arises locoregionally. The characteristic pattern is pain around the injection site, developing into erythema, a livedoid dermatitis patch, and necrosis of the skin, subcutaneous fat, and muscle tissue. Three patients were injected with drugs (diclofenac sodium, ketoprofen, meperidine) for pain relief. Three patients complained of pain, and a skin lesion was observed, after which necrosis developed on their buttocks. Each patient underwent debridement and coverage. The wound healed uneventfully. We report three cases of Nicolau syndrome in the buttocks following diclofenac intramuscular injection. PMID:22783535

  18. Ascher's syndrome: A rare case report

    PubMed Central

    Chandravanshi, Shivcharan Lal; Mishra, Vinay

    2015-01-01

    An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher's syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher's syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament. PMID:25971175

  19. Nicolau Syndrome after Intramuscular Injection: 3 Cases

    PubMed Central

    Kim, Tae-Heon; Lee, Keun-Cheol

    2012-01-01

    Nicolau syndrome is a rare complication of intramuscular injection consisting of ischemic necrosis of skin, soft tissue, and muscular tissue that arises locoregionally. The characteristic pattern is pain around the injection site, developing into erythema, a livedoid dermatitis patch, and necrosis of the skin, subcutaneous fat, and muscle tissue. Three patients were injected with drugs (diclofenac sodium, ketoprofen, meperidine) for pain relief. Three patients complained of pain, and a skin lesion was observed, after which necrosis developed on their buttocks. Each patient underwent debridement and coverage. The wound healed uneventfully. We report three cases of Nicolau syndrome in the buttocks following diclofenac intramuscular injection. PMID:22783535

  20. Distinct patterns of language impairment in Down's syndrome and Williams syndrome: The case of

    E-print Network

    Stromswold, Karin

    Distinct patterns of language impairment in Down's syndrome and Williams syndrome: The case-reflexive pronouns and on the comprehension of active and passive sentences in eight adolescents with Down's Syndrome patterns of impairment. q 2005 Elsevier Ltd. All rights reserved. Keywords: Down's syndrome; Williams

  1. The first Japanese case of COACH syndrome.

    PubMed

    Mitsui, Fukiko; Aikata, Hiroshi; Azakami, Takahiro; Katamura, Yoshio; Kimura, Takashi; Kawaoka, Tomokazu; Saneto, Hiromi; Takaki, Shintaro; Hiraga, Nobuhiko; Tsuge, Masataka; Waki, Koji; Hiramatsu, Akira; Imamura, Michio; Kawakami, Yoshiiku; Takahashi, Shoichi; Arihiro, Koji; Chayama, Kazuaki

    2009-03-01

    COACH syndrome is a disorder characterized by hypoplasia of cerebellar vermis, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis, and 21 cases have been reported to date. Here we describe the first Japanese case of COACH syndrome, who was diagnosed at the age of 37 years and never progressed to liver failure. The patient was found to have delayed developmental milestones at the age of 5 months and mental retardation at the age of 7 years. She had been treated for hepatopathy of unknown origin from the age of 22 years. She was admitted to Hiroshima University Hospital at the age of 37 years after the identification of esophageal varices on a routine upper endoscopy. Computed tomography of the abdomen revealed portal hypertension and splenomegaly, and liver biopsy showed liver fibrosis. In addition, she had coordination disorder and dysarthria. Brain magnetic resonance images revealed hypoplasia of cerebellar vermis. The final diagnosis was COACH syndrome. She underwent endoscopic injection sclerotherapy for esophageal varices. From that point until her death from ovarian cancer at the age of 41 years, the liver function tests were stable without an episode of hematemesis. Physicians should be aware of COACH syndrome when they examine young patients who present with hepatopathy, portal hypertension of unknown origin and cerebellar ataxia. PMID:19261004

  2. Christ Siemens Touraine syndrome: a case report

    PubMed Central

    2009-01-01

    Background The ectodermal dysplasias are a large and complex group of diseases. Case presentation This article presents a case in a 37 years old female patient, referred to the dental clinic for impairment patients maintained by the University of Pernambuco. She presented typical characteristics of Christ Siemens Touraine syndrome such as alterations of the inferior members, a great number of diffuse pigmentations, poor oral hygiene, periodontal disease, oligodontia, enamel hypoplasia, including alteration in the form and size of the teeth. Conclusion The optimal treatment for these patients should require the multidisciplinary collaborative efforts of health professionals. PMID:19134218

  3. Stylocarotid syndrome: An unusual case report

    PubMed Central

    Sadaksharam, Jayachandran; Singh, Khushboo

    2012-01-01

    Patients presenting with vague head and neck pain can lead to wide-ranging differential diagnosis. Elongation of styloid process (SP) should also be considered as one of the etiological factors for cervical pain radiating to jaws, pharyngodynia, and difficulty in swallowing. Symptomatic elongation of SP or mineralization of stylohyoid ligament is referred as Eagle's syndrome. It is a rare entity presenting with an array of symptoms like recurrent throat pain, dysphagia, otalgia, and neck pain. History and physical examination play a vital role in diagnosing this condition and further radiological investigation confirms the diagnosis. The preferred radiologic modality is 3D-computed tomography, which gives accurate information about length, angulation, type of elongation, and relation to vital structures and hence helps in execution of treatment planning. This paper describes clinical approach, imaging investigations, and management of a case of Eagle's syndrome. PMID:23633821

  4. A Rare Case of Mucopolysaccharidosis: Hunter Syndrome

    PubMed Central

    Anekar, Jayaprasad; A.C., Raj; N.C., Sandeepa; Nappalli, Deepika

    2015-01-01

    Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs). It is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. The prevalence of this syndrome is 1:100,000 births. Insufficient enzyme activity results in accumulation of glycosaminoglycans (GAGS) in the lysosomes of various tissues and organs and leading to progressive multisystem pathologies. Here, we report a case of 13-year-old boy who presented with typical facial, skeletal and dental features without corneal clouding. It is possible that thorough and systematic clinical and radiological examination alone can help in diagnosis of this complex disorder. PMID:26023658

  5. Cornelia de Lange syndrome: a case study.

    PubMed

    Kalal, Goud Iravathy; Raina, Vimarsh P; Nayak, Veerabhadra S; Teotia, Pooja; Gupta, Bhushan V

    2009-02-01

    Cornelia de Lange syndrome (CDLS) is a relatively common multiple congenital anomaly/mental retardation disorder with an unknown genetic and molecular pathogenesis. The essential features of this developmental malformation syndrome are retardation in growth, developmental delay, various structural limb abnormalities, and distinctive facial features. Most cases are sporadic and are thought to result from a new dominant mutation. Consequently, hypotheses regarding the pathogenetic mechanisms underlying the two distinct phenotypes, classic and mild, are purely speculative. The recent discovery of molecular techniques and identification of the NIPBL gene has allowed etiologic diagnosis of this disorder. In this article, we describe a patient with CDLS in whom conventional cytogenetics, fluorescence in situ hybridization, and NIPBL gene mutation analysis determined an etiologic diagnosis, providing precise genetic counseling and facilitated the family to make an evidence-based decision for conception and also alleviated the extreme degree of anxiety associated with the thought of having a second child in this set of circumstances. PMID:19309268

  6. Prune Belly syndrome: A rare case report

    PubMed Central

    Samal, Sunil Kumar; Rathod, Setu

    2015-01-01

    Prune Belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology almost exclusive to males. We report a case of term male baby born to a 39-year-old grand multipara with previous four normal vaginal births. There was no history of genetic or congenital anomaly in her family. Examination of the baby revealed hypotonia, deficient abdominal muscle, cryptorchidism, palpable kidney, and bladder. Ultrasound examination of the abdomen revealed bilateral gross hydronephrosis and megaureter. Provisional diagnosis of PBS was made and the baby was admitted in neonatal intensive care units for further management. Routine antenatal care with ultrasonography will help in detecting renal anomalies, which can be followed postnatally. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course. PMID:25810678

  7. Possible case of peripheral osmotic demyelination syndrome

    PubMed Central

    Serrano-Castro, P J; Alonso-Verdegay, G; López-Martínez, G; Arjona-Padillo, A; Callejón, J R; Olmedo, V M; Guardado-Santervás, P; Huete-Hurtado, A; Olivares-Romero, J; Fernández, C Naranjo

    2009-01-01

    Central pontine myelinolysis (CPM) is an uncommon neurological syndrome that is usually related to the rapid restoration of a previous hyponatraemia. Although the most frequent location of CPM injury is the pons, it is now designated osmotic demyelination syndrome (ODS) because, as well as in the brainstem, these injuries can be observed in other parts of the central nervous system (CNS)–for example, the thalamus, subthalamic nucleus, external geniculate body, putamen, globus pallidum, internal capsule, white matter of cerebellum and the deep layers of the brain cortex. However, an exhaustive search of the literature (MEDLINE 1967–2007) has revealed no case report of peripheral nervous system (PNS) demyelination secondary to severe hyponatraemia. PMID:21686669

  8. Stewart–Treves syndrome: a case report

    PubMed Central

    Benmansour, Anis; Laanaz, Saad; Bougtab, Abdeslam

    2014-01-01

    The Stewart-Treves syndrome was first described in 1948, it's an angiosarcoma developed on a longstanding lymphadenomatous limb, more often after radical mastectomy. Diagnosis is made on skin biopsy and the prognosis is poor when radical surgery can't be performed. We report the case on a Stewart-Treves syndrome in a sixty-six years old woman who underwent radical mastectomy for breast carcinoma ten years earlier. Surgery was not feasible at the time of diagnosis, and we lost touch of the patient even if chemotherapy was decided. Radical surgery is the best treatment to date for this rare disease. Conservative surgery with adjuvant radiotherapy is also possible. Systemic chemotherapy is reserved for locally advanced unresectable and metastatic forms. We advocate long term follow-up for every post mastectomy lymphedema to diagnosis this fatal disease when curable. PMID:25574331

  9. A rare case of mucopolysaccharidosis: hunter syndrome.

    PubMed

    Anekar, Jayaprasad; C, Deepa Narayanan; A C, Raj; N C, Sandeepa; Nappalli, Deepika

    2015-04-01

    Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs). It is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. The prevalence of this syndrome is 1:100,000 births. Insufficient enzyme activity results in accumulation of glycosaminoglycans (GAGS) in the lysosomes of various tissues and organs and leading to progressive multisystem pathologies. Here, we report a case of 13-year-old boy who presented with typical facial, skeletal and dental features without corneal clouding. It is possible that thorough and systematic clinical and radiological examination alone can help in diagnosis of this complex disorder. PMID:26023658

  10. Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas

    PubMed Central

    Demirdöven, Mehmet; Yazgan, Hamza; Korkmaz, Mevlit; Gebe?çe, Arzu; Tonbul, Alparslan

    2014-01-01

    Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancreas which is an unreported gastrointestinal abnormality. PMID:25165593

  11. A Case of Sotos Syndrome (Cerebral Gigantism) and Psychosis

    Microsoft Academic Search

    Michael T. Compton; Marc Celentana; Brian Price; Andrew C. Furman

    2004-01-01

    Sotos syndrome, or cerebral gigantism, is a syndrome of accelerated growth during early childhood, and a number of craniofacial and other physical abnormalities are commonly present. Behavioral and psychiatric manifestations of the disorder include attention deficits, aggressiveness, and social inhibition. The authors describe a case of psychosis that developed in a patient with Sotos syndrome.

  12. Turner syndrome: a case of gonadal dysgenesis.

    PubMed

    Siddiqui, M N I; Mia, M A R; Perveen, R; Uddin, M M; Chowdhury, K S A

    2002-07-01

    An eighteen years old girl came from Ishargang, Mymensingh complaining of short stature, absence of development of breast, lack of menstruation and other secondary sex characters. She was found in infantile appearance with a height of 123 cm, body weight of 28 kg. She had short, broad, webbed neck, cuvitus valgus, absence of development of breast, axillary and public hairs with infantile external genitalia. Hormonal profile revealed high level of LH and FSH, low level of estrogens. Ultrasonography revealed uterine hypoplasia and ill defined gonadal streaks, Karyotype showed typical 45, X0 pattern. She was diagnosed as a case of gonadal dysgenesis due to Turner syndrome. PMID:12395685

  13. A curious case of yellow nail syndrome.

    PubMed

    Cri?an-Dabija, Radu; Mih?escu, Traian

    2015-01-01

    The Yellow Nail Syndrome is a rare clinical entity, first described in 1967 by P.D. Samman and W.F. White. The triad slow-growing dystrophic yellow nails, lymphedema and chronic respiratory disorders is the typical manifestation of the disease but some variations have been described as well as associations with chylothorax, chylous ascites, intestinal lymphangiectasia, thyroid abnormalities, malignancies and immunoglobulin A (IgA) deficiency. We present a case of a 55-years-old woman that had an insidious onset of respiratory disorders and chronic sinusitis, suspected to be infectious throughout the hospitalizations, associated with therapeutically neglected autoimmune thyroiditis. PMID:26016054

  14. A case of prune belly syndrome.

    PubMed

    Xu, Wei; Wu, Hui; Wang, Dong-Xuan; Mu, Zhi-Hong

    2015-06-01

    Prune belly syndrome (PBS) is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, "prune-like" abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery-right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection. PMID:23639747

  15. Sturge-Weber syndrome: a case study.

    PubMed

    Garro, Sarah J; Bradshaw, Wanda T

    2014-04-01

    Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous condition (affecting both the skin and the brain) characterized by a facial port-wine stain located specifically on the ophthalmic branch of the trigeminal nerve, cerebral vascular abnormalities, and potential eye involvement. The incidence of SWS is approximately 1 in 20,000 to 50,000 infants, and therefore all clinical presentations are important to discuss. This article describes a case presentation of SWS and then discusses the etiology, pathophysiology, management, diagnosis, and prognosis of SWS. PMID:24675628

  16. Asperger syndrome related suicidal behavior: two case studies

    PubMed Central

    Kocourkova, Jana; Dudova, Iva; Koutek, Jiri

    2013-01-01

    Asperger syndrome hinders adaptation to developmental challenges during childhood and adolescence, particularly with regard to interpersonal relationships. Individuals with Asperger syndrome display lack of empathy and limited ability to understand social and emotional exchanges with other people. Individuals with Asperger syndrome are significantly exposed to the risk of suicidal behavior, especially during adolescence. The authors describe cases of suicidal behavior in two adolescent boys with Asperger syndrome. PMID:24294002

  17. Post-vaccinic opsoclonus–myoclonus syndrome: a case report

    Microsoft Academic Search

    F Lapenna; L Lochi; M de Mari; G Iliceto; P Lamberti

    2000-01-01

    The opsoclonus–myoclonus syndrome is a pathological condition characterized mainly by involuntary myoclonic movements involving ocular, trunk and limb muscles associated with ataxia and other neurological signs.We describe the case of a 30-year-old woman who developed this syndrome 15days after anti-Rubella vaccination. This case suggests a possible autoimmune post-vaccinic etiopathogenesis of opsoclonus–myoclonus syndrome, rarely described in the literature.

  18. Severe meconium aspiration syndrome: case report.

    PubMed

    Koigi-Kamau, R; Kungu, E C

    2006-08-01

    This is a case report on severe meconium aspiration syndrome (MAS) that resulted in early neonatal death. Antenatal care was provided at a low-cost non-governmental organization (NGO) clinic. First stage of labour lasted for only 2 hours and 45 minutes. There were no foetal heart rate abnormalities that were noted during the first stage of labour. Artificial rupture of membranes was done in second stage of labour. There was no liquor amnii seen but scanty thick old meconium was noted. Delivery was easy. The baby's skin, nails, umbilical cord, placenta and vernix were deeply stained yellow with old meconium. Resuscitation included suction through direct laryngoscopy, nasotracheal intubation with pulmonary toilet, as well as administration of 100% oxygen. The condition of the baby did not improve. A diagnosis of severe MAS with hypoxic ischaemic encephalopathy (HIE), persistent pulmonary hypertension (PPH), persistent foetal circulation syndrome (PFCS) and meconium chemical pneumonitis was made. The baby was admitted to the intensive care unit (ICU) for assisted ventilation and critical care. The condition of the baby continued to deteriorate and demise occurred 18 hours after birth. The pathophysiologic processes of intrauterine meconium release, mechanisms of foetal effects and dilemmas in management are discussed. PMID:17153662

  19. Joubert syndrome: report of 11 cases

    PubMed Central

    ?ncecik, Faruk; Hergüner, M. Özlem; Altunba?ak, ?akir; Gleeson, Joseph G.

    2015-01-01

    SUMMARY Joubert syndrome (JS) is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. The 11 cases were searched according to their clinic, radiologic, and mutation analysis findings, according to which they were diagnosed as JS. Physical, neurological and fundus examinations were performed in all patients. Cerebral magnetic resonance imaging scan, abdominal ultrasonography, and if necessary, echocardiography were performed. CC2D2A and ARL13B mutations were analyzed in our 11 JS patients. The mean age was 31.09±37.49 months (range: 1 month – 10 years). Two of the cases were siblings. Nine of the cases had a history of episodic hyperpnea. The other findings were hypotonia, ataxia, psychomotor retardation, and nystagmus. In all patients, the “molar tooth sign” was observed with scanning methods. In addition, cerebellar cortical dysplasia was established in one of the cases. Macrocephaly (1 patient), multiple renal cysts (1 patient), ocular coloboma (2 patients), ptosis (1 patient), congenital heart disease (1 patient), polydactyly (2 patients), and congenital hip dislocation (2 patients) were also determined. We identified mutation (c.C4452T ? p.R1518W) in CC2D2A in two patients. JS can show heterogeneity clinically, neuroradiologically and genetically. Determination of the symptoms, early diagnosis and genetic consultation are the goals for decision-making to begin treatment and rehabilitation programs. PMID:23692786

  20. A case of "subjective" Frégoli syndrome.

    PubMed Central

    Silva, J A; Leong, G B

    1991-01-01

    In the classic type of Frégoli syndrome, the affected person believes that another person's mind can inhibit the body of another person. We present an unusual presentation of Frégoli syndrome in which a patient believed that copies of his own mind inhabited the bodies of others. Given that the misidentification syndrome called subjective doubles involves the delusional belief that one's own physical double exists, by analogy this patient suffered from "subjective" Frégoli syndrome. PMID:1911735

  1. Parry Romberg syndrome with localized scleroderma: A case report.

    PubMed

    Khan, Mohsin; Khan, Mubeen; Negi, Raju; Gupta, Nikita

    2014-07-01

    Parry Romberg syndrome(PRS) is a rare acquired poorly understood neurocutaneous syndrome of unknown etiology characterized by slow progressive atrophic changes commonly affecting one half of the face. The exact incidence and etiology towards the syndrome remains unclear. Apart from the multifactorial etiology proposed, the possible primary cause is mainly attributed to the cerebral disturbance of the fat metabolism. The syndrome overlaps with "en coup de sabre" morphea, with an ill defined relationship existing between the two. Parry Romberg Syndrome is an invalidating lesion that may be associated with different neurological, cutaneous, ocular, dental and autoimmune abnormalities. This report presents one rare case of 22 years old female patient with Parry Romberg syndrome associated with localized scleroderma, accompanied by a brief review of literature with classical clinical, radiographic, histological findings and the treatment of progressive hemifacial atrophy. Key words:Parry Romberg syndrome, progressive facial hemiatrophy, morphea, localized scleroderma. PMID:25136439

  2. [Kleine-Levin syndrome: a case report].

    PubMed

    Richard, Y; Le Galudec, M; Saint-André, S; Planche, P; Genestet, S; Lazartigues, A

    2010-02-01

    The purpose of this article is to report an original clinical case whose symptoms suggest a very peculiar pathology, because of its rarity, symptomatic expression and unclear etiopathogenesis: the Kleine-Levin Syndrome (KLS). During the regression of tonsillitis concomitant with an emotional shock, the 15-year-old patient exhibited a dramatic change in behaviour, at odds with his previous state, and accompanied by hypersomnia and confusion, megaphagia, irritability, hypersexuality and mood disorders. We observed a spontaneous and total regression of the symptoms after 12 days, except for the incomplete amnesia that proved to be persistent. Four months later, further to an ethylic drunkenness, the patient presented with a new and similar episode. The patient benefited from no medicinal treatment, even in the course of hypersomnia episodes and asymptomatic periods. After a clinical presentation of this patient, we will consider this case study from a more psychopathological angle by questioning the existence of a facilitating psychological profile. The discovery of an IQ equal to 86 from the scores of WISC-IV, and the identification of constructive visual difficulties made us suspect neurological disorders, but these abnormalities were not found during the completion of the Rey Complex Figure Test. The personality profile issued from the scores at the MMPI-A assessment was ranked as barely significant (type 2-4): indeed, it showed nothing specific to this patient. Literature data show that most of the patients presenting with a KLS have been seen by a psychiatrist at the time of the disease and diagnosed as suffering from hysteria, or schizophrenia, or bipolar disorders... Because of diagnostic wanderings, some patients have, hence, received inappropriate treatments. One should pay close attention to this very rare syndrome, on the border between neurology and psychiatry, since its diagnosis is essentially based on clinical features, and carefully think about the implementation of a medicinal treatment. This unique case seems unable to support our working hypothesis about the identification of a particular psychological profile in the KLS, but the question of an underlying fragility is still worth considering. We personally think that, even though links between the KLS and bipolar disorders have been suggested, this disease has to be considered as a separate entity. PMID:20159193

  3. Bupropion induced serotonin syndrome: a case report.

    PubMed

    Thorpe, Elizabeth L; Pizon, Anthony F; Lynch, Michael J; Boyer, Jessica

    2010-06-01

    Although there are no documented cases of serotonin syndrome (SS) following bupropion ingestion alone in the literature, the ability of bupropion to potentiate serotonin levels and lead to SS is known. A 15-year-old boy was found at home hallucinating. He then developed tonic-clonic activity. Upon arrival in the emergency department, he was confused and restless. On exam, he had tachycardia, hypertension, dilated pupils and dry oral mucosa, normal tone and reflexes in his arms, but rigidity and +4 reflexes in his legs with sustained clonus at his ankles. He was admitted and treated with intravenous fluids and lorazepam for his agitation. A urine drug screen (via gas chromatography/mass spectrometry) was positive only for naproxen and bupropion. Serum bupropion and hydroxybupropion levels drawn 17 h after his reported ingestion were 280 (therapeutic range 50-100) and 3,100 ng/mL (therapeutic range <485), respectively. Within 24 h of his admission, the patient was awake with normal vital signs and neurologic exam. To our knowledge, there are only three reported cases demonstrating SS in conjunction with bupropion toxicity; however, none of these were secondary to bupropion alone. PMID:20238197

  4. Happle-Tinschert Syndrome: Report of a Case with Hemimegalencephaly

    PubMed Central

    Çabuk, Gonca; Arpac?, Rabia; Baz, K?ymet; Katar, Demet

    2014-01-01

    Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria. PMID:25053915

  5. Nine Years with Munchausen Syndrome: A Case of Psychogenic Dystonia

    PubMed Central

    Cakmak, Mirac A.; Sahin, Sevki; Cinar, Nilgun; Tiyekli, Utkan; Karsidag, Sibel

    2015-01-01

    Background Munchausen syndrome presenting with psychogenic dystonia is a rare condition. Phenomenology Shown A psychogenic dystonia case presenting with an acute onset of retrocollis, lower limb dystonia and bizarre gait was diagnosed as Munchausen syndrome. Educational Value Recognizing psychogenic dystonia avoids unnecessary investigations and provides successful treatment.

  6. Unusual manifestation of the yellow nail syndrome - Case report*

    PubMed Central

    Papaiordanou, Francine; Epstein, Marina Gabrielle; Miyaoka, Mariana Yumi; Yang, Jeane Jeong Hoon; Pires, Mario Cezar

    2014-01-01

    The yellow nail syndrome is a rare disorder characterized by the classic triad of yellow and dystrophic nails, lymphedema and pleural effusion. We report in this paper a case of yellow nail syndrome, presenting the classic triad of the disease, associated with an unusual lymph accumulation in the abdomen region. PMID:24937826

  7. [Münchausen syndrome by proxy. A case report].

    PubMed

    Moussaoui, A; Fejjal, N; Ababou, K; Tourabi, K; Ennouhi, A; Ribag, Y; Slaoui, A; Sqalli, J; Ihrai, H

    2009-02-01

    The plastic surgeon rarely encounters patients with factitious disorders. The syndrome of Münchausen by proxy is a part of it. We put the point on this syndrome through a clinical observation of an eight-year-old girl victim of parental abuse. PMID:18938018

  8. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report

    PubMed Central

    2011-01-01

    Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches. PMID:22054059

  9. Case Report: A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome.

    E-print Network

    Carr, Leslie

    1 Case Report: A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome. Authors Rajiv SK, Raghav S, Sharathbabu NM. A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome://openmed.nic.in/view/subjects/ojhas.html Submitted: Dec 5, 2012; Accepted: Jan 7, 2013; Published: Jan 25, 2013 Abstract: Multiple sclerosis (MS

  10. A case of immune reconstitution syndrome to disseminated histoplasmosis.

    PubMed

    Dawood, Halima

    2011-01-01

    Histoplasmosis is an uncommon cause of hepatosplenomegaly in South Africa. A case of immune reconstitution syndrome (IRS) to disseminated histoplasmosis in a patient presented to a tertiary hospital in Kwazulu-Natal, South Africa, is described. PMID:21593404

  11. Kounis syndrome, two case reports from Kragujevac, Serbia

    PubMed Central

    Davidovic, Goran; Iric-Cupic, Violeta; Zdravkovic, Vladimir; Milanov, Srdjan; Dimitrijevic, Aleksandra

    2014-01-01

    It is well-established that acute coronary syndromes occurs when thrombus formation from atheromatous plaques erode or rupture in the advanced stage of atherosclerotic process with severe reduction of coronary blood flow. Also, some conditions may trigger acute coronary syndrome even in the absence of prior cardiovascular disease, and with normal coronary vessels. One of the most important is Kounis syndrome, also known as “allergic angina” or “allergic myocardial infarction” in which the release of mediators during allergic insults has been incriminated to induce coronary artery spasm and/or atheromatous plaque erosion or rupture. The accurate incidence of Kounis syndrome is not known, but since it was described, many clinical cases have been reported, showing the occurence due to various allergens. Here we present two cases of most probable Kounis syndrome, first in patients after multiple stings by non-venomous insect called “black-fly”. PMID:24551482

  12. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

    PubMed

    Glöckle, Nicola; Kohl, Susanne; Mohr, Julia; Scheurenbrand, Tim; Sprecher, Andrea; Weisschuh, Nicole; Bernd, Antje; Rudolph, Günther; Schubach, Max; Poloschek, Charlotte; Zrenner, Eberhart; Biskup, Saskia; Berger, Wolfgang; Wissinger, Bernd; Neidhardt, John

    2014-01-01

    Hereditary retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different forms of RD can be caused by mutations in >100 genes, including >1600 exons. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. So far, NGS is not routinely used in gene diagnostics. We developed a diagnostic NGS pipeline to identify mutations in 170 genetically and clinically unselected RD patients. NGS was applied to 105 RD-associated genes. Underrepresented regions were examined by Sanger sequencing. The NGS approach was successfully established using cases with known sequence alterations. Depending on the initial clinical diagnosis, we identified likely causative mutations in 55% of retinitis pigmentosa and 80% of Bardet-Biedl or Usher syndrome cases. Seventy-one novel mutations in 40 genes were newly associated with RD. The genes USH2A, EYS, ABCA4, and RHO were more frequently affected than others. Occasionally, cases carried mutations in more than one RD-associated gene. In addition, we found possible dominant de-novo mutations in cases with sporadic RD, which implies consequences for counseling of patients and families. NGS-based mutation analyses are reliable and cost-efficient approaches in gene diagnostics of genetically heterogeneous diseases like RD. PMID:23591405

  13. Nonsurgical treatment of stylohyoid (Eagle) syndrome: a case report

    PubMed Central

    Firouzi-Marani, Shahram; Khoshbin, Masoud

    2014-01-01

    Eagle syndrome is a rare condition caused by elongation of the styloid process or calcification of the stylohyoid ligament. Patients with Eagle syndrome typically present with dysphagia, dysphonia, cough, voice changes, otalgia, sore throat, facial pain, foreign body sensation, headache, vertigo, and neck pain. Here we report a case in which the patient initially presented with sore throat, left-sided facial pain, and cough. This case report provides a brief review of the diagnosis and nonsurgical management of this rare syndrome. PMID:25368838

  14. [Claude syndrome caused by mesencephalic infarction: 2 cases].

    PubMed

    Mrabet, A; Fredj, M; Gouider, R

    1995-04-01

    Paramedian midbrain infarcts limited to the oculomotor nerve fibers are uncommon. We studied 2 cases where the clinical syndrome included a third cranial nerve palsy and a contralateral cerebellar ataxia. The CT scan disclosed a paramedian midbrain tegmental infarct, so that it is possible to term our two cases Claude's syndrome. The oculomotor nerve fascicular palsies were complete in one case and limited to the extraocular muscles in the second case. The selective involvement of oculomotor function suggests intraaxial fascicular organisation of the third cranial nerve in the brainstem. PMID:7481380

  15. Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

    PubMed

    Nectoux, Juliette; de Cid, Rafael; Baulande, Sylvain; Leturcq, France; Urtizberea, Jon Andoni; Penisson-Besnier, Isabelle; Nadaj-Pakleza, Aleksandra; Roudaut, Carinne; Criqui, Audrey; Orhant, Lucie; Peyroulan, Delphine; Ben Yaou, Raba; Nelson, Isabelle; Cobo, Anna Maria; Arné-Bes, Marie-Christine; Uro-Coste, Emmanuelle; Nitschke, Patrick; Claustres, Mireille; Bonne, Gisèle; Lévy, Nicolas; Chelly, Jamel; Richard, Isabelle; Cossée, Mireille

    2015-07-01

    Defects in TRIM32 were reported in limb-girdle muscular dystrophy type 2H (LGMD2H), sarcotubular myopathies (STM) and in Bardet-Biedl syndrome. Few cases have been described to date in LGMD2H/STM, but this gene is not systematically analysed because of the absence of specific signs and difficulties in protein analysis. By using high-throughput variants screening techniques, we identified variants in TRIM32 in two patients presenting nonspecific LGMD. We report the first case of total inactivation by homozygous deletion of the entire TRIM32 gene. Of interest, the deletion removes part of the ASTN2 gene, a large gene in which TRIM32 is nested. Despite the total TRIM32 gene inactivation, the patient does not present a more severe phenotype. However, he developed a mild progressive cognitive impairment that may be related to the loss of function of ASTN2 because association between ASTN2 heterozygous deletions and neurobehavioral disorders was previously reported. Regarding genomic characteristics at breakpoint of the deleted regions of TRIM32, we found a high density of repeated elements, suggesting a possible hotspot. These observations illustrate the importance of high-throughput technologies for identifying molecular defects in LGMD, confirm that total loss of function of TRIM32 is not associated with a specific phenotype and that TRIM32/ASTN2 inactivation could be associated with cognitive impairment. PMID:25351777

  16. Unraveling the Genetics of Human Obesity

    PubMed Central

    Mutch, David M; Clément, Karine

    2006-01-01

    The use of modern molecular biology tools in deciphering the perturbed biochemistry and physiology underlying the obese state has proven invaluable. Identifying the hypothalamic leptin/melanocortin pathway as critical in many cases of monogenic obesity has permitted targeted, hypothesis-driven experiments to be performed, and has implicated new candidates as causative for previously uncharacterized clinical cases of obesity. Meanwhile, the effects of mutations in the melanocortin-4 receptor gene, for which the obese phenotype varies in the degree of severity among individuals, are now thought to be influenced by one's environmental surroundings. Molecular approaches have revealed that syndromes (Prader-Willi and Bardet-Biedl) previously assumed to be controlled by a single gene are, conversely, regulated by multiple elements. Finally, the application of comprehensive profiling technologies coupled with creative statistical analyses has revealed that interactions between genetic and environmental factors are responsible for the common obesity currently challenging many Westernized societies. As such, an improved understanding of the different “types” of obesity not only permits the development of potential therapies, but also proposes novel and often unexpected directions in deciphering the dysfunctional state of obesity. PMID:17196040

  17. [A case of Williams syndrome who exhibited fetishism].

    PubMed

    Noguchi, Masayuki; Kato, Satoshi

    2004-01-01

    Williams syndrome is a rare congenital disease in which the etiological locus is a micro-deletion in chromosome 7. Here, we describe the case of a 22-year-old male who was diagnosed with Williams syndrome at the age of 3 years. As a child, the patient exhibited patterns of behavior characteristic of this syndrome including hyperactivity, attention deficit, and over-friendliness. He also showed persistent interest in construction vehicles, playgrounds, and gloves. He became interested in gloves after watching a television program in which the heroine fought her enemies while wearing gloves. Watching pornographic movies allowed him to attach strong sexual significance to gloves when he was 19 years old. Since that time, he has assaulted women wearing gloves four times to rob them of the gloves. The current paper discusses both the role of the cognitive profile unique to Williams syndrome and that of environmental factors in the development of fetishism in this case. PMID:15669216

  18. A rare case of acute compartment syndrome after saphenectomy.

    PubMed

    Milone, Marco; Venetucci, Piero; Iervolino, Salvatore; Taffuri, Caterina; Salvatore, Giuseppe; Milone, Francesco

    2013-05-16

    Saphenectomy is one of the most validated criteria to treat varicose veins of the lower legs. Although many complications were well described, little is known about compartment syndrome due to muscle ischemia caused by constrictive bandages applied after stripping of varicose veins. We presented a case of successful conservative treatment of compartment syndrome after saphenectomy. Rehabilitation was found effective in improving fatigue, stiffness and tenderness showing the effectiveness of the combined conservative-rehabilitative treatment. However conservative treatment could not be considered the treatment of choice in daily practice. A severity score assessment of compartment syndrome should be useful to assess to which patients is allowed to not perform fasciotomy. PMID:24303473

  19. Glucagonoma syndrome: a case report with focus on skin disorders

    PubMed Central

    Fang, Sheng; Li, Shuang; Cai, Tao

    2014-01-01

    Glucagonoma syndrome is a rare paraneoplastic phenomenon. Necrolytic migratory erythema is often one of the first presenting symptoms. We report a case of a 55-year-old man with a 2-year history of recalcitrant eruption. Abdominal computer tomography was performed, which revealed a tumor in the tail of the pancreas. After pancreatectomy, his cutaneous lesions vanished in a few days. Skin symptoms are important, as they are often essential for early diagnosis of glucagonoma syndrome and may prevent metastatic disease; hence, in this report, we focus on skin disorders in glucagonoma syndrome. PMID:25152626

  20. Thoracic endometriosis syndrome: case report and review of the literature.

    PubMed

    Azizad-Pinto, Parisa; Clarke, David

    2014-01-01

    Thoracic endometriosis syndrome is the presence of endometrial tissue in or around the lung. Thoracic endometriosis syndrome consists of four distinct clinical entities: catamenial pneumothorax, catamenial hemothorax, hemoptysis, and pulmonary nodules. Thoracic endometriosis syndrome is a rare and complex condition, and diagnosis is often delayed or missed by clinicians, which can result in recurrent hospitalizations and other complications. Current treatments include hormone therapy and, where warranted, surgical intervention. We report the case of a 48-year-old woman with endometriosis causing bowel obstruction and concurrent catamenial pneumothorax. PMID:25102519

  1. Hutchinson - Gilford progeria syndrome: A rare case report.

    PubMed

    Kashyap, Subhash; Shanker, Vinay; Sharma, Neeraj

    2014-10-01

    Hutchinson - Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome. This interesting case is reported for its rarity. PMID:25396134

  2. Structural Basis for Membrane Targeting of the BBSome by ARL6

    PubMed Central

    Mourão, André; Nager, Andrew R.; Nachury, Maxence V.; Lorentzen, Esben

    2014-01-01

    The BBSome is a coat-like ciliary trafficking complex composed of proteins mutated in Bardet-Biedl syndrome (BBS). A critical step in BBSome-mediated sorting is recruitment of the BBSome to membranes by the GTP–bound Arf-like GTPase ARL6. We have determined crystal structures of C. reinhardtii ARL6–GDP, ARL6–GTP and the ARL6–GTP–BBS1 complex. The structures demonstrate how ARL6–GTP binds the BBS1 ?-propeller at blades 1 and 7 and explain why GTP– but not GDP–bound ARL6 can recruit the BBSome to membranes. Single point mutations in the ARL6–GTP–BBS1 interface abolish the interaction of ARL6 with the BBSome and prevent the import of BBSomes into cilia. Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS disease cases, fails to interact with ARL6–GTP providing a molecular rationale for patient pathologies. PMID:25402481

  3. [The 5q(-) syndrome. Report of 2 cases].

    PubMed

    Ben Lakhal, R; Meddeb, B; Gouider, E; Aissaoui, L; Sannana Sandi, H; Ben Abid, H; Belhaj Ali, Z; Hafsia, R; Hafsia, A

    1999-11-01

    A rare and primitive myelodysplastic syndrome 5q(-) is characterised first, by the persistence of the cytogenetic anomaly 5q(-), and second, by its feminine predominance. Among 13 cases of myelodysplastic syndromes, the subject of a substantial and systematic cytogenetic medullar study (1996-1998), this paper is a case study of 2 syndromes 5q(-) diagnosed in two male patients, respectively, aged 41 and 68. The following diagnosis was made on the basis of an aregenerative macrocytic anaemia, a high platelet count, and a megakaryocytic hyperplasia, along with dysmegakaryocytopoiesis. The diagnosis of the 5q(-) syndrome was verified by cytogenetic analysis showing in one of the patients a deletion 5q(-)(q13, q33) and 5q(-)(q14, q34) with trisomy in the second one. Treatment was only limited to a blood transfusion. Subsequently one of the patients developed an advanced case of leukaemia. This paper suggests that a systematic medullar cytogenetic study must be conducted in the case of any refractory anaemia in order to identify the syndrome 5q(-) in individual cases. PMID:10730148

  4. AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE II ? CASE REPORT

    Microsoft Academic Search

    Mira Misjak; Miljenko Solter; Milan Vrkljan

    SUMMARY ? Presentation is made of a 41-year-old man with Addison's disease and coexistent Hashimoto's thyroiditis and hypothyroidism. The two diseases are presumed to be of autoimmune etiology and to manifest as part of the autoimmune polyglandular syndrome type II, as also sug- gested by tissue typing for HLA B8 locus. Inadequate TSH suppression with standard levothyroxine substitution therapy for

  5. Shwachman's syndrome. A review of 21 cases

    Microsoft Academic Search

    P J Aggett; N P Cavanagh; D J Matthew; J R Pincott; J Sutcliffe; J T Harries

    1980-01-01

    21 patients (10 male, 11 female) aged between 11 months and 29 years with Shwachman's syndrome are reviewed. All patients had exocrine pancreatic insufficiency. Haematological features included neutropenia in 19 (95%), anaemia in 10 (50%), and thrombocytopenia in 14 (70%); one patient developed erythroleukaemia. Severe infections occurred in 17 (85%) from which 3 (15%) died. Only one child exceeded the

  6. Postpolio Syndrome: Using a Single Case Study

    ERIC Educational Resources Information Center

    Obringer, S. John; Elrod, G. Franklin

    2004-01-01

    The purpose of this study was to identify the major characteristics of postpolio syndrome (PPS), investigate physical and psychological limitations, and comprehensively review current medical interventions through a single subject design. The study addresses the symptoms and characteristics, the effect on life style, and the current recommended…

  7. Auditory processing disorders associated with a case of Kartagner's syndrome

    PubMed Central

    Saransh, Jain; Vikas, Dwarkanath Mysore

    2014-01-01

    Summary Kartagner's syndrome is a rare autosomal recessive disorder characterized by sinusitis, bronchiectasis and situs inversus. Otitis media is seen in 95% of the individuals with this syndrome due to recurrent respiratory infections and dysfunctional cilia in the middle ear. Earlier research reported the presence of structural and functional deficits in the auditory brainstem following long standing otitis media. However, no such findings have been reported in individuals with this syndrome. Thus, the present case report highlights the results of various audiological tests with special emphasis on investigating the auditory processing abilities in a known case of Kartagner's syndrome. In order to accomplish the aim, the audiological test battery was carried out on a 42 year old male patient diagnosed as having Kartagner's syndrome. The basic audiological tests, including immittance audiometry, pure tone audiometry, otoacoustic emission and auditory brainstem response (using click stimulus) results indicated the presence of mild to moderate mixed hearing loss in both ears. However, results of the auditory brainstem response (using speech stimulus) pointed toward abnormal speech processing skills. Thus, the behavioral test battery approach (including speech perception in noise test, gap detection test, temporal modulation transfer function test and duration pattern test) was followed and the findings suggested presence of auditory closure and temporal processing deficit. The outcome of the case study recommends that a complete test battery approach involving psychoacoustic tests should be used to assess such cases and auditory rehabilitation should be suggested accordingly. PMID:25343122

  8. Rowell's syndrome: report of a case

    Microsoft Academic Search

    Elizabeth A. Fitzgerald; Stephen M. Purcell; Gary R. Kantor; Howard M. Goldman

    1996-01-01

    A 47-year-old woman presented with a long-standing history of an erythema multiforme-like eruption in association with lupus erythematosus. Unusual laboratory and immunologic findings were consistent with a diagnosis of Rowell's syndrome, which includes lupus erythematosus in association with erythema multiforme-like skin lesions, a speckled antinu-clear antibody pattern, and a positive rheumatoid factor. We believe that our patient meets the criteria

  9. Anesthetic management of two cases of Beckwith-Wiedemann syndrome.

    PubMed

    Kimura, Yoshinobu; Kamada, Yasuhiro; Kimura, Saori

    2008-01-01

    Two cases of children with Beckwith-Wiedemann syndrome are presented. This syndrome consists of various abnormalities, including macroglossia, visceromegaly, omphalocele, and gigantism. These abnormalities frequently require operative correction during the neonatal period. We anesthesiologists should make plans for difficult airway managements in patients with this syndrome. Our two patients also showed larger sized tracheas than those estimated by their age and height. A cuffed tube, though still controversial, has recently been used in children. We recommend using a cuffed tube in patients with this syndrome, because the appropriate tracheal size may not be predictable, tracheal intubation might be difficult, and risks incurred during changing of a tracheal tube should be avoided. PMID:18306025

  10. Brugada syndrome in Puerto Rico: a case series.

    PubMed

    Banchs-Viñas, Hector; Rivera, Norwin; Banchs-Pieretti, Héctor; Altieri, Pablo

    2015-01-01

    Brugada syndrome is characterized by ST-segment changes in the right precordial ECG leads and a high incidence of sudden death in patients with strutural norm hearts. Life-threatening ventricular arrhythmias are the hallmark of Brugada syndrome whice incidence and prevalence of BrS in Puerto Rico, to our knowledge, has never been studied and there is only one case report of BrS in Puerto Rico in the literature. We review three cases of BrS in Puerto Rican patients who presented to our institution with syncope reviewing the literature. PMID:26035978

  11. Sjögren’s syndrome associated with antiphospholipid syndrome and fetal myocardial echogenicity: case report

    PubMed Central

    Giacobbe, Annamaria; Grasso, Roberta; Foti, Grazia; Interdonato, Maria Lieta; Mancuso, Alfredo

    2013-01-01

    Summary Introduction Sjögren’s syndrome is a rare systemic autoimmune disorder associated with pregnancy (0.3–0.6%). The typical occurrence of anti-Ro/SSA and anti-La/SSB autoantibodies in the maternal serum can modify the perinatal outcome: neonatal lupus and congenital heart block are the most common fetal complications. Case we report a case of pregnancy complicated by a secondary form of SS associated with antiphospholipid syndrome and fetal myocardial echogenicity. Conclusion in conclusion, increased attention must be paid to pregnancies associated with autoimmune disorders, since careful ultrasonographic and clinical monitoring and preventive treatment with corticosteroids could minimize severe and common fetal complications. PMID:23991277

  12. Macrocephaly-capillary malformation syndrome: three new cases.

    PubMed

    Panigrahi, Inusha; Bhushan, Mani; Yadav, Mukesh; Khandelwal, Niranjan; Singhi, Pratibha

    2012-02-15

    Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly-Capillary Malformation (M-CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, joint laxity, thickened subcutaneous tissue and 2/3 syndactyly of the toes. We evaluated three patients who demonstrated characteristic features of the disorder. Patients seen in the Genetic clinic of a tertiary care center were subjects of the analysis. We present three cases of overgrowth syndrome with common features of macrocephaly, capillary malformation, dysmorphic face and abnormal neurocognitive profile. These features are consistent with the newly defined M-CM syndrome. This condition must be differentiated from other overgrowth syndromes for appropriate surveillance for known complications and genetic counseling. We discuss the diagnostic criteria for the disorder and also recommend to include typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, considering it as minor criterion on the basis of findings in present cases. One of the cases had bluish white iris which has not been described earlier. PMID:22029941

  13. Shwachman's syndrome. A review of 21 cases.

    PubMed Central

    Aggett, P J; Cavanagh, N P; Matthew, D J; Pincott, J R; Sutcliffe, J; Harries, J T

    1980-01-01

    21 patients (10 male, 11 female) aged between 11 months and 29 years with Shwachman's syndrome are reviewed. All patients had exocrine pancreatic insufficiency. Haematological features included neutropenia in 19 (95%), anaemia in 10 (50%), and thrombocytopenia in 14 (70%); one patient developed erythroleukaemia. Severe infections occurred in 17 (85%) from which 3 (15%) died. Only one child exceeded the 3rd centile for height, and growth retardation was particularly evident in the older patients. All had skeletal abnormalities or delayed skeletal maturation, or both. Metaphyseal dyschondroplasia affected 13 of the older patients and was associated with skeletal deformities. Eight of 9 children under 2 1/2 years had rib abnormalities. Respiratory function tests in children under 2 years demonstrated reduced thoracic gas volume and chest wall compliance. Older patients had reduced forced expiratory volume and forced vital capacity. Neurological assessment showed developmental retardation or reduced IQ assessments, or both, in 85% of patients studied. Other neurological abnormalities included hypotonia, deafness, and retinitis pigmentosa. Neonatal problems had been present in 16 (80%) of the patients and 5 were of low birthweights. Hepatomegaly with biochemical evidence of liver involvement occurred in the younger patients and resolved with age. Other associated features included dental abnormalities, renal dysfunction, an icthyotic maculopapular rash in 13 (65%), delayed puberty, diabetes mellitus, and various dysmorphic features. These findings stress the diverse manifestations of the syndrome and extend knowledge on a number of aspects. Sibship segregation ratios support an autosomal mode of inheritance and an hypothesis for the pathophysiological basis of this syndrome is advanced. Images Fig. 2 Fig. 4(a) Fig. 4(b) Fig. 5 PMID:7436469

  14. Mild case of Curry-Jones syndrome.

    PubMed

    Thomas, Ellen R A; Wakeling, Emma L; Goodman, Frances R; Dickinson, John C; Hall, Christine M; Brady, Angela F

    2006-04-01

    The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel. Developmental delay occurs in half of the reported patients. The patient reported here has a mild form of the condition with polysyndactyly and skin changes but no craniosynostosis, bowel problems or developmental delay. PMID:16531740

  15. [Costello syndrome associated to a neuroblastoma. Presentation of a case].

    PubMed

    Flores-Nava, G; Canún-Serrano, S; Moysen-Ramírez, S G; Parraguirre-Martínez, S; Escobedo-Chávez, E

    2000-01-01

    We present the case of a newborn with Costello syndrome who died due to heart arrhythmia. In the autopsy, a neuroblastoma was found. The male patient was born at term. During the first hours of life, he developed severe respiratory failure requiring mechanical ventilation. Phenotypic features included cranial and facial dysmorphia, short thorax, tachycardia, heart murmur, abdominal distention, hepatomegaly, short extremities, widespread petechias, diminished muscular tone, ungueal hypoplasia in toes, bilateral cryptorchidia, and generalized redundant skin. In the evolution he presented several sepsis episodes, difficulty for feeding, supraventricular arrhythmia, two heart arrests, and opisthotonos, and died at 65 days of life due to heart arrhythmia. The autopsy revealed hydrocephaly, a neuroblastoma, and a heart without anatomic alterations. Costello syndrome was diagnosed. Costello syndrome is not frequent; in this patient, the diagnosis was suspected in life and was confirmed postmortem, the topic is reviewed, the important aspect in this case is the association with a neuroblastoma. PMID:11131863

  16. A case of vander woude syndrome with rare phenotypic expressions.

    PubMed

    Tripathi, Anurag; Tiwari, Brijesh; Gupta, Shalini; Patil, Ranjit; Khanna, Vikram

    2014-10-01

    Van der Woude syndrome (VWS) is a rare developmental disorder with an autosomal dominant inheritance. The prevalence of VWS varies from 1:100,000 to 1:40,000 still born or live births. It has variable expressivity and generally expressed as orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, hypodontia, cleft or bifid uvula, ankyloglossia and some extraoral anomalies involving hand, foot and genitalia. Thorough family history, clinical examination and genetic counseling helps in correct diagnosis of VWS as Popliteal pterygium syndrome has overlapping clinical manifestations. Most cases of Van der Woude syndrome have been associated with mutations and genetic changes. The current case has classical features of VWS with some rare features like undescended small testis and unreported finding of syndactyly of second and third toe adds on to the existing knowledge of VWS presentation. PMID:25478421

  17. A Case of Vander Woude Syndrome with Rare Phenotypic Expressions

    PubMed Central

    Tiwari, Brijesh; Gupta, Shalini; Patil, Ranjit; Khanna, Vikram

    2014-01-01

    Van der Woude syndrome (VWS) is a rare developmental disorder with an autosomal dominant inheritance. The prevalence of VWS varies from 1:100,000 to 1:40,000 still born or live births. It has variable expressivity and generally expressed as orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, hypodontia, cleft or bifid uvula, ankyloglossia and some extraoral anomalies involving hand, foot and genitalia. Thorough family history, clinical examination and genetic counseling helps in correct diagnosis of VWS as Popliteal pterygium syndrome has overlapping clinical manifestations. Most cases of Van der Woude syndrome have been associated with mutations and genetic changes. The current case has classical features of VWS with some rare features like undescended small testis and unreported finding of syndactyly of second and third toe adds on to the existing knowledge of VWS presentation. PMID:25478421

  18. Cowden syndrome- Clinico-radiological illustration of a rare case

    PubMed Central

    Patil, Prashant B.; Sreenivasan, V.; Goel, Sumit; Nagaraju, K.; Vashishth, Shirin; Gupta, Swati; Garg, Kanika

    2013-01-01

    Cowden syndrome (CS) or multiple hamartoma syndrome is an infrequent genodermatoses, which is inherited as an autosomal dominant trait resulting from the mutation in the Phosphatase and Tensin homolog gene on the arm 10q and is principally characterized by multiple hamartomas with an increased risk of development of malignancies. Facial and oral signs are remarkable in the form of multiple papules and trichilemmomas on the face. We report one such rare case of CS in a 19-year-old patient who was diagnosed on the basis of her oral mucosal lesions and was further investigated and diagnosed with other hamartomas. The present case report signifies the responsibility of the oral physician in the early diagnosis of this progressive pathological syndrome as it leaves its footmark in the oral cavity in the form of oral mucosal lesions. PMID:23853470

  19. Child Abuse Syndrome: The Cases We Miss

    Microsoft Academic Search

    Graham Jackson

    1972-01-01

    One hundred cases of physical injury to children are reviewed. Eighteen cases are shown to be misdiagnosed cases of child abuse. It is suggested that all hospitals review their records of childhood trauma in the light of these findings. All children under 4 years of age with trauma of non-obvious aetiology should be referred to the paediatrician.

  20. Tolosa-Hunt syndrome with sellar erosion: case report

    Microsoft Academic Search

    A. Drevelengas; I. Kalaitzoglou; M. Tsolaki

    1993-01-01

    The so-called Tolosa-Hunt syndrome consists of painful ophthalmoplegia caused by chronic nonspecific inflammation of the cavernous sinus and\\/or superior orbital fissure, responsive to steroid therapy. We present a case with the unusual feature of sellar erosion, in which angiography. CT and MRI suggested this idiopathic condition.

  1. Orthodontic Management of Silver-Russell Syndrome. A Case Report

    PubMed Central

    Ioannidou-Marathiotou, Ioulia; Sluzker, Ariel; Athanasiou, Athanasios E

    2012-01-01

    This case report describes the orthodontic management of a 10-year-old female with Silver-Russell syndrome by means of gradual expansion of the mandibular dental arch using removable appliances and subsequent comprehensive treatment of malocclusion by means of fixed appliances. PMID:22927891

  2. Case report Hypoplastic left heart syndrome in situs inversus totalis

    Microsoft Academic Search

    Guido Oppido; Carlo Pace Napoleone; Stefania Martano; Gaetano Gargiulo

    2010-01-01

    A very rare case of a newborn with hypoplastic left heart syndrome and situs inversus totalis is herein reported. Successful surgical treatment of this cardiac malformation was accomplished at our institution and consisted of: modified Norwood stage I procedure, with direct anastomosis of the transected main pulmonary artery to the aortic arch, without any prosthetic material interposition and right ventricle

  3. Harlequin syndrome: two new cases and a management proposal.

    PubMed

    Willaert, W I M; Scheltinga, M R M; Steenhuisen, S F; Hiel, J A P

    2009-09-01

    The Harlequin syndrome is a rare autonomic disorder, characterized by unilateral diminished sweating and flushing of the face in response to heat or exercise. We present two new cases and evaluate the data of 83 patients described in the literature. We provide diagnostic and therapeutic guidelines. PMID:19902816

  4. Sjögren-Larsson syndrome: report of a case in India.

    PubMed

    Patki, A H

    1993-04-01

    The case of a six-year-old Indian girl with Sjögren-Larsson syndrome is reported. She displayed the classic triad of oligophrenia, ichthyosis, and spastic paraparesis. There was a history of parental consanguinity. The features that were absent were hypertelorism, pigmentary degeneration of the retina, simian creases of the palms, and aminoaciduria. PMID:8477614

  5. Post-infarct cerebellar cognitive affective syndrome: a case report

    Microsoft Academic Search

    Ali Jawaid; Muhammad Ameen Rauf; Uzma Usman; Bhojo A Khealani

    2008-01-01

    Post Infarct cerebellar cognitive affective syndrome is a rare disorder, characterized by cognitive impairment in the domains of memory, language, visuo-spatial functioning and affect after cerebellar stroke. We report a case of young female who developed mood alteration and cognitive disturbance following isolated cerebellar infarct. We, therefore, advocate a potential role of cerebellum in regulation of cognition and behaviour in

  6. Pancreatic Hamartoma and SAPHO Syndrome: a Case Report

    Microsoft Academic Search

    Dorel Sampelean; Mircea Adam; Valentin Muntean; Bianca Hanescu; Iacob Domsa

    We report the first case of an association of pancreatic hamartoma with SAPHO syndrome mimicking disseminated bone metastases. A 46 year old male with intermittent back pain for 10 years, relieved by NSAIDs and desquamation erythemathous palmo-plantar eruption one year before, presented with symptoms of duodenal stenosis, a cystic tumor at the head of the pancreas and osteoformative (hyperostosis) and

  7. Juvenile polyposis syndrome affecting the stomach: A case report

    PubMed Central

    Kelly, Steven; Dwerryhouse, Simon; Safranek, Peter; Hardwick, Richard

    2008-01-01

    Introduction Juvenile polyposis syndrome(JPS) is a rare autosomal dominant inherited condition. Hamartomatous polyps can affect the entire gastrointestinal tract but usually predominate in the colon. In this case report we present an unusual case of JPS that presented with massive gastric polyposis requiring a total gastrectomy. Case presentation A 51-year-old man presented with symptoms of gastric outlet obstruction and upper gastrointestinal bleeding. Gastroscopy showed massive gastric polyposis with a large antral polyp that had prolapsed through the pylorus causing gastric outlet obstruction. Initially endoscopic polypectomy was performed, but due to progressive symptoms a total gastrectomy was then performed. Histology confirmed massive gastric juvenile polyposis. Conclusion Massive gastric polyposis is an uncommon manifestation of juvenile polyposis syndrome. This case illustrates important principles in managing this condition. PMID:18826596

  8. Churg Strauss Syndrome – A Case Report

    PubMed Central

    Janapati, Ramakrishna; A, Krishnaprasad; M, Nageshwara Rao

    2014-01-01

    A male aged 45-years presented with complaints of fever for 7days, cough, breathlessness for 4 days, tingling of hands, feet and weakness of both hands and feet for 4 days duration. He was a known asthmatic with history of recurrent sinusitis in the past. On examination he had bilateral polyphonic wheeze and evidence of distal asymmetric sensory neuropathy with motor weakness. And on investigation he had eosinophilia, pulmonary function test showed reversible airway obstruction,nerve conduction studies revealed mononeuritis multiplex, muscle biopsy suggestive of eosinophilia infiltration, nerve biopsy suggestive of vacuities, 2DECHO showed RWMA in inter ventricular septum, Coronary angiogram showed narrowing in distal LAD territory. In view of sinusitis, asthma, eosinophilia, tissue infiltration by eosinophils we made a diagnosis of Churg Strauss syndrome. PMID:25121017

  9. Ascher syndrome: report of a case with early manifestations.

    PubMed

    Molina, Santiago; Medard, Pablo; Galdeano, Marcelo

    2015-06-01

    Ascher syndrome is a disease of unknown etiology first described in 1920 by Ascher, an ophthalmologist from Prague. It presents with recurrent edema of the lip and upper eyelid resulting in double lip and blepharochalasis. In 10% of cases the idiopathic nontoxic thyroid enlargement also occurs. Because of its rarity, it is often undiagnosed. A case of early onset is presented with its respective surgical treatment and outcome. PMID:26000088

  10. Gitelman's Syndrome Presenting with Hypocalcaemia - A Case Report.

    PubMed

    Cader, F A; Kabir, A; Mayedah, R; Masud, M S; Quadir, F; Hossen, M N

    2015-04-01

    Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by severe hypomagnesaemia, hypokalaemia, metabolic alkalosis and hypocalcaemia. It is caused by defective NaCl transport in the Distal Convoluted Tubule and presents in adolescence or adulthood, with a distinctly more benign course than Bartter's Syndrome. The dominant clinical features are muscle weakness, fatigue, carpopedal spasm, cramps and tetany. We report the case of a 26 year old male who presented with flaccid quadriparesis and carpopedal spasms, hypokalaemia, hypomagnesaemia, hypocalcaemia and severe urinary magnesium wasting. He was treated with potassium and magnesium supplementation and regained full function of all limbs. PMID:26007276

  11. Cutaneous Manifestations in POEMS Syndrome: Case Report and Review

    PubMed Central

    Marinho, Flauberto Sousa; Pirmez, Rodrigo; Nogueira, Renata; Cuzzi, Tullia; Sodré, Celso Tavares; Silva, Marcia

    2015-01-01

    The authors report a case of sensorimotor polyneuropathy, diffuse cutaneous hyperpigmentation, skin sclerodermiform thickening and papular lesions in the infraclavicular and abdominal region. Besides weight loss, there were diabetes mellitus and hypothyroidism. The alterations were consistent with POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy and Skin changes) syndrome, which is a rare systemic disease with monoclonal proliferation of plasmacytes and slow progression. Cutaneous alterations are present in 68% of patients with diffuse cutaneous hyperpigmentation, plethora and acrocyanosis. Leukonychia, necrotizing vasculitis, hypertrichosis and cutaneous thickening of sclerodermiform type are also cited. The onset of multiple cutaneous angiomas in this syndrome has been observed in 24–44% of patients. PMID:26034475

  12. Cutaneous Manifestations in POEMS Syndrome: Case Report and Review.

    PubMed

    Marinho, Flauberto Sousa; Pirmez, Rodrigo; Nogueira, Renata; Cuzzi, Tullia; Sodré, Celso Tavares; Silva, Marcia

    2015-01-01

    The authors report a case of sensorimotor polyneuropathy, diffuse cutaneous hyperpigmentation, skin sclerodermiform thickening and papular lesions in the infraclavicular and abdominal region. Besides weight loss, there were diabetes mellitus and hypothyroidism. The alterations were consistent with POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy and Skin changes) syndrome, which is a rare systemic disease with monoclonal proliferation of plasmacytes and slow progression. Cutaneous alterations are present in 68% of patients with diffuse cutaneous hyperpigmentation, plethora and acrocyanosis. Leukonychia, necrotizing vasculitis, hypertrichosis and cutaneous thickening of sclerodermiform type are also cited. The onset of multiple cutaneous angiomas in this syndrome has been observed in 24-44% of patients. PMID:26034475

  13. Cannabinoid Hyperemesis Syndrome: A Case Report and Review of Pathophysiology

    PubMed Central

    Iacopetti, Corina L.; Packer, Clifford D.

    2014-01-01

    Cannabis is the most widely used illicit drug in the United States, with lifetime prevalence of use estimated at 42% to 46%. The antiemetic properties of cannabis are well-known by the medical community and the general public; however, less well-recognized is the paradoxical potential for certain chronic users to develop hyperemesis. We describe in this case a patient with prior extensive work-up for nausea and vomiting and previous diagnosis of cyclic vomiting syndrome who presented with characteristic features of cannabinoid hyperemesis syndrome. We review the current literature for this condition and highlight potential mechanisms for its pathogenesis. PMID:24667219

  14. An Apparently Classical Case Report of Sturge-Weber Syndrome.

    PubMed

    Giannantoni, Nadia Mariagrazia; Della Marca, Giacomo; Vollono, Catello

    2014-11-11

    Sturge-Weber syndrome is a rare, sporadic, congenital neurocutaneous syndrome, likely due to abnormal development of the cephalic microvasculature. Symptoms and signs depend on the extent and location of the venous dysplasia. We describe a case of a 33-year-old woman presenting with drug-resistant epilepsy, chronic headache, and recurring nonepileptic seizures. Computed tomography and magnetic resonance imaging scans showed severe frontoparietal right hemisphere atrophy, prevalent right frontoparietal leptomeningeal enhancement, circumscribed angioma of the left rolandic sulcus, and prominent deep venous system. We report an apparently classical Sturge-Weber syndrome and hypothesize a shared pathophysiologic mechanism for clinical symptoms. We speculate that all the main symptoms observed in our patient could be the expression of a functional imbalance between the atrophic right hemisphere and the hyperexcitable left cortex. PMID:25392004

  15. Bilateral type-I duane syndrome with multiple anamolies: a case report.

    PubMed

    Varma, Chaitanya; Aroor, Shrikiran; Mundkur, Suneel C; Annamalai, Karthick

    2012-10-01

    The Duane syndrome is a strabismus syndrome which is characterized by congenital non-progressive horizontal ophthalmoplegia which primarily affects the abducens nerve. Approximately 70% of the individuals with the Duane syndrome have an isolated disease. We have described here, a case of bilateral Duane syndrome with associated anamolies. PMID:23205369

  16. Case Report of Sump Syndrome after Laser Conjunctivodacryocystorhinostomy

    PubMed Central

    Goel, Ruchi; Kishore, Divya; Kumar, Sushil; Agarwal, Tushar; Nagpal, Smriti; Apoorva, A.G.

    2015-01-01

    The sump syndrome was initially described in relation to patients who had undergone external dacryocystorhinostomy. Here we report a case of sump syndrome that developed following laser conjunctivodacryocystorhinostomy (CDCR) due to tube displacement after a bout of forceful sneezing. Unlike cases of external dacryocystorhinostomy where flaps are sutured, there is a potential space created by the sac remnants in laser CDCR. Hence, any displacement of the tube will lead to the improper drainage of secretions with superadded infections of the contents (as occurred in this case). Therefore, in laser CDCR, it is imperative to create an appropriately placed osteotomy with a correctly sized tube that is well secured to avoid displacement along with patient education regarding tube care. PMID:25960734

  17. Karewsky syndrome: A case report and review of the literature

    PubMed Central

    Ploneda-Valencia, César Felipe; Sainz-Escárrega, Victor Hugo; Gallo-Morales, Mariana; Navarro-Muñiz, Eliseo; Bautista-López, Carlos Alfredo; Valenzuela-Pérez, Jesús Alonso; López-Lizárraga, Carlos René

    2015-01-01

    Introduction Gallstone ileus can be a lethal disease, rarely suspected in the clinical scenario. It represents about 25% of all bowel obstruction cases in patients older than 65. There is a classification of gallstone ileus based on the onset time: acute, subacute and chronic (Karewsky syndrome). We describe the first reported case of chronic gallstone ileus. Case presentation A 78-year-old female was admitted to the ER with a 15-day case of consistent bowel obstruction. The subject reported a five-year history of recurrent hospital admissions that resolved spontaneously after non-surgical management. Karewsky syndrome was diagnosed and managed with enterolithotomy. After five days of postoperative evolution the patient was discharged, and at six months follow up, no other hospital admission or relapse has been registered. Discussion The gallstone ileus diagnosis demands a higher clinical suspicion, there is no biochemical marker, and an abdominal CT is ideal for imaging-based diagnosis. There is no consensus on the optimal surgical approach. Conclusion We describe the first case of Karewsky syndrome and a gastro-jejune and gastric-choledochus double fistula. We emphasize the importance of higher clinical suspicion for patients with bowel obstruction older than 65 years old and make evident that although there are not evidence-based guidelines for this treatment, enterolithotomy is a recommended approach. PMID:26073917

  18. Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome

    PubMed Central

    Glaser, Rivka L.; Jiang, Wen; Boyadjiev, Simeon A.; Tran, Alissa K.; Zachary, Andrea A.; Van Maldergem, Lionel; Johnson, David; Walsh, Sinead; Oldridge, Michael; Wall, Steven A.; Wilkie, Andrew O. M.; Jabs, Ethylin Wang

    2000-01-01

    Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the parental origin of these FGFR2 mutations, the amplification refractory mutation system (ARMS) was used. ARMS PCR primers were developed to recognize polymorphisms that could distinguish maternal and paternal alleles. A total of 4,374 bases between introns IIIa and 11 of the FGFR2 gene were sequenced and were assayed by heteroduplex analysis, to identify polymorphisms. Two polymorphisms (1333TA/TATA and 2710 C/T) were found and were used with two previously described polymorphisms, to screen a total of 41 families. Twenty-two of these families were shown to be informative (11 for Crouzon syndrome and 11 for Pfeiffer syndrome). Eleven different mutations in the 22 families were detected by either restriction digest or allele-specific oligonucleotide hybridization of ARMS PCR products. We molecularly proved the origin of these different mutations to be paternal for all informative cases analyzed (P=2.4×10-7; 95% confidence limits 87%–100%). Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals (34.50±7.65 years vs. 30.45±1.28 years, P<.01). Our data on advanced paternal age corroborates and extends previous clinical evidence based on statistical analyses as well as additional reports of advanced paternal age associated with paternal origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3). Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations. PMID:10712195

  19. Large vestibular aqueduct syndrome: a case study.

    PubMed

    Clark, Jackie L; Roeser, Ross J

    2005-01-01

    A 23-month-old female was referred for hearing aid fitting after failing newborn hearing screening and being diagnosed with significant hearing loss through subsequent diagnostic testing. Auditory brainstem response (ABR) and behavioral testing revealed a moderate-to-severe bilateral mixed hearing loss. Prior to the hearing aid evaluation, tympanostomy tubes had been placed bilaterally with little or no apparent change in hearing sensitivity. Initial testing during the hearing aid fitting confirmed earlier findings, but abnormal middle ear results were observed, requiring referral for additional otologic management. Following medical clearance, binaural digital programmable hearing aids were fit using Desired Sensation Level parameters. Behavioral testing and probe microphone measures showed significant improvements in audibility. Decrease in hearing sensitivity was observed six months following hearing aid fitting. Radiological studies, ordered due to the mixed component and decreased hearing sensitivity, revealed large vestibular aqueduct syndrome (LVAS). Based on the diagnosis of LVAS, a cochlear implant was placed on the right ear; almost immediate speech-language gains were observed. PMID:16515134

  20. Goodpasture's Syndrome and Silica: A Case Report and Literature Review

    PubMed Central

    Dahlgren, James; Wardenburg, Marla; Peckham, Trevor

    2010-01-01

    We report a case of Goodpasture's syndrome following chronic low level and an acute, high level of exposure to crystalline silica. A 38-year-old male tilesetter was admitted to the emergency room with dyspnea and respiratory failure. He reported that his symptoms had developed over the previous week after inhaling a large amount of dust while dry-sanding and sweeping a silica-based product used to fill cracks in a cement floor. Over the following days, his pulmonary function declined and he developed acute renal failure. Tests of antiglomerular basement membrane antibody were positive and renal biopsy revealed global glomerulonephritis. He was diagnosed with Goodpasture's syndrome and treated with steroids, plasmapheresis, and hemodialysis. This man had a history of childhood asthma and a remote, one pack-year history of cigarette use. He used the flooring product for seven years prior to the inciting event, however, previous jobs had utilized significantly smaller amounts. Goodpasture's syndrome and other autoimmune diseases have been reported in association with silica exposure. The acute onset following high level silica exposure in this previously healthy man, suggest that clinicians should investigate silica exposure as a causal factor in cases of Goodpasture's syndrome. PMID:20886021

  1. [Spinal complications encountered in Larsen's syndrome. Apropos of 3 cases].

    PubMed

    Bellon, J M; Filipe, G

    1987-01-01

    The authors report 3 cases of Larsen's syndrome in which the spine was involved. There was one instability between C1 and C2 and another between C2 and C3. These two cases were treated by posterior grafting. All three cases presented with a severe thoraco lumbar kypho-scoliosis which was treated conservatively, but one of the scolioses had to be grafted later. It is concluded that cervical instability may be missed and needs to be looked for. The kypho-scoliosis appeared to be particularly progressive. PMID:3562942

  2. Propofol Infusion Syndrome or Not? A Case Report

    PubMed Central

    Diaz, James H.; Roberts, Cory A.; Oliver, Josh J.; Kaye, Alan David

    2014-01-01

    Background Propofol is commonly used and well tolerated for induction of general anesthesia and is also used as a sedative in the intensive care unit. However, in rare cases, the agent may cause a fatal condition known as propofol infusion syndrome (PRIS). Case Report We present a case of PRIS that could have been fatal in a previously healthy male patient with multiple gunshot wounds. Conclusion Because patients typically exhibit other potentially fatal comorbidities, PRIS is always a diagnosis of exclusion. The true incidence of PRIS remains unknown, and more objective criteria for its diagnosis need to be established. PMID:25249811

  3. Aqueous misdirection syndrome: an interesting case presentation

    PubMed Central

    Moinul, Prima; Hutnik, Cindy ML

    2015-01-01

    Objective To report a case of an aqueous misdirection-like presentation in a pseudophakic patient. Design Retrospective case review. Participant An 84-year-old pseudophakic gentleman presented with bilateral blurred vision 8 years after cataract surgery. A refractive shift with shallow anterior chambers and elevated intraocular pressures were noted. No corneal edema was noted. Although aqueous suppression and topical atropine would relieve the signs and symptoms, the effect was temporary with fluctuating and variable changes in refraction, anterior chamber depth, and intraocular pressure. The presence of patent iridotomies had no effect on the fluctuations. A pars plana vitrectomy and surgical iridectomy were successful in preventing further fluctuations. Conclusion Aqueous misdirection is a form of secondary angle closure glaucoma marked by elevated intraocular pressures, myopic shift in refraction, and central shallowing of the anterior chamber. Here, a case of a pseudophakic patient experiencing bilateral and fluctuating signs and symptoms resembling aqueous misdirection is presented. Surgical intervention with a pars plana vitrectomy and iridectomy prevented further fluctuations. PMID:25678765

  4. Gitelman's syndrome associated with chondrocalcinosis: a case report.

    PubMed

    Koçkara, Ay?e ?eker; Candan, Ferhan; Hüzmeli, Can; Kayata?, Mansur; Alaygut, Demet

    2013-10-01

    Gitelman's syndrome (GS) is a rare disease with autosomal recessive trait, characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria and hyperkinemic hyperaldosteronism. While muscle weakness, tetany, stomachache, nausea and fever are very common, it could sometimes be completely asymptomatic as is the case in our patient. It is generally benign, but some severe complications like growth retardation and, though rare, paralysis and cardiac arrest could also be seen. A 57-year-old male patient sent to our hospital for further examination because of hypokalemia was diagnosed with GS as a result of clinical and laboratory assessments. Potassium and magnesium replacement was started. We are presenting our case seeing that GS is not a syndrome to be overlooked as it bears a risk of severe complications, although it might be asymptomatic until advanced ages. PMID:24021031

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

    PubMed Central

    Kabayegit, Ozlem Yersal; Soysal, Dilek; Oruk, Gonca; Ustaoglu, Bahar; Kosan, Umut; Solmaz, Serife; Avci, Arzu

    2008-01-01

    Introduction Oncocytic neoplasms occur in several organs and are most commonly found in the thyroid, kidneys and salivary glands. Oncocytic neoplasms of the adrenal cortex are extremely rare and are usually non-functioning. Case presentation We report the case of an adrenocortical oncocytic neoplasm with uncertain malignant potential in a 31-year-old man with Cushing's syndrome. The patient had been operated on following diagnosis of a 7 cm adrenal mass. Following surgery, the Cushing's syndrome resolved. The patient is still alive with no metastases one year after the surgery. Conclusion Adrenocortical oncocytic neoplasms must be considered in the differential diagnosis of both functioning and non-functioning adrenal masses. PMID:18620603

  6. Toxic shock syndrome complicating influenza A in a child: case report and review.

    PubMed

    Tolan, R W

    1993-07-01

    Despite extensive literature on toxic shock syndrome, reports of its manifestations in children remain relatively uncommon. Similarly, toxic shock syndrome in association with influenza B or influenza-like illness has been reported in 12 patients, but it has been reported to occur following influenza A in only two patients to date. We report a third case of toxic shock syndrome in a child with influenza A and review the association between epidemic influenza and toxic shock syndrome ("the Thucydides syndrome"). PMID:8353244

  7. The Tolosa-Hunt Syndrome in Children: A Case Report

    Microsoft Academic Search

    C Zanus; C Furlan; P Costa; D Cosentini; M Carrozzi

    2009-01-01

    Tolosa-Hunt syndrome (THS) is characterized by unilateral painful ophthalmoplegia with oculomotor paresis, associated with an idiopathic granulomatous inflammation involving the cavernous sinus, with a typical relapsing-remitting course. We report a case of an 8-year-old girl who was admitted because of an ophthalmoplegia with exotropia and ptosis of the left eyelid, accompanied by diplopia and left sovraorbital pain. The clinical data,

  8. Double seronegative myasthenia gravis with antiphospholipid syndrome: a case report

    PubMed Central

    2014-01-01

    Introduction Myasthenia gravis is an autoimmune disease characterized by fluctuating muscle weakness. It is often associated with other autoimmune disorders, such as thyroid disease, rheumatoid arthritis, systemic lupus erythematosus, and antiphospholipid syndrome. Many aspects of autoimmune diseases are not completely understood, particularly when they occur in association, which suggests a common pathogenetic mechanism. Case presentation We report a case of a 42-year-old Caucasian woman with antiphospholipid syndrome, in whom myasthenia gravis developed years later. She tested negative for both antibodies against the acetylcholine receptor and against muscle-specific receptor tyrosine-kinase, but had typical decremental responses at the repetitive nerve stimulation testing, so that a generalized myasthenia gravis was diagnosed. Her thromboplastin time and activated partial thromboplastin time were high, anticardiolipin and anti-?2 glycoprotein-I antibodies were slightly elevated, as a manifestation of the antiphospholipid syndrome. She had a good clinical response when treated with a combination of pyridostigmine, prednisone and azathioprine. Conclusions Many patients with myasthenia gravis test positive for a large variety of auto-antibodies, testifying of an immune dysregulation, and some display mild T-cell lymphopenia associated with hypergammaglobulinemia and B-cell hyper-reactivity. Both of these mechanisms could explain the occurrence of another autoimmune condition, such as antiphospholipid syndrome, but further studies are necessary to shed light on this matter. Clinicians should be aware that patients with an autoimmune diagnosis such as antiphospholipid syndrome who develop signs and neurological symptoms suggestive of myasthenia gravis are at risk and should prompt an emergent evaluation by a specialist. PMID:24380508

  9. The ictal bradycardia syndrome: A case report?

    PubMed Central

    Fava, Ilaria; Del Gaudio, Salvatore; Volpe, Enrico; Paolisso, Giuseppe; Rizzo, Maria Rosaria

    2015-01-01

    We report a case of a 56-year-old man affected by frontal lobe seizures who has developed bradycardia followed by asystole. The patient had a positive family history for epilepsy. In fact, the mother, brothers, and one sister had epilepsy. Furthermore, the patient's two brothers suddenly died of unspecified heart disease at the ages of 26 and 53, respectively. The patient also experienced syncope once or twice a year. Three similar epileptic seizures, without the recurrence of asystole, were registered after pacemaker implantation.

  10. Pathology Case Study: Irritable Bowel Syndrome (IBS)

    NSDL National Science Digital Library

    Finkelstein, Sidney

    This is a case study presented by the University of Pittsburgh Department of Pathology in which a 64-year-old woman with a long history of IBS presents with a recent "exacerbation of diarrhea, increased abdominal cramping, and weight loss." Visitors are given both the gross and microscopic descriptions, including images, and are given the opportunity to diagnose the patient. This is an excellent resource for students in the health sciences to familiarize themselves with using patient history and laboratory results to diagnose disease. It is also a helpful site for educators to use to introduce or test student learning in gastrointestinal pathology.

  11. Trisomy 4p syndrome: A case report with review

    SciTech Connect

    Patel, S.V.; Dagnew, H.; Parekh, A.J. [Long Island College Hospital, Brooklyn, NY (United States)] [and others

    1994-09-01

    We present a case with trisomy of the short arm of chromosome 4, i.e., 46,XX,der(22)t(4;22)(p12;11.2). The most notable clinical findings included: prominent forehead, hypertelorism, small, bulbous nose with depressed and broad bridge, low hairline, retrognathia, notched auricular helix, rocker-bottom feet with prominent heel, arachnodactyly and comptodactyly. An additional, unique finding in our case is the presence of 13 ribs. In the past, the precise characterization of cases with trisomy for the 4p segment has been difficult by routine cytogenetic techniques because the bands involved in this abnormality are quite variable. We used the FISH technique, applying a battery of probes to delineate the genomic morbidity at the molecular level. In our case, the entire short arm is in the trisomic state, yet it could not be identified as a distinct syndrome prior to cytogenetic evaluation. The phenotypic spectrum associated with this gross chromosomal abnormality has been the subject of debate and scrutiny. We provided a comprehensive review of 64 cases and it is concluded that the clinical manifestations of the pure trisomy 4p syndrome are associated with trisomy of the distal two thirds to the entire p arm and that the additional material does not cause a more severe phenotype. Therefore, the molecular characterization of the short arm of chromosome 4 (4p) may be imperative in order to correlate the clinical expression with chromosome bands and ultimately with specific gene(s) in future cases.

  12. First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation.

    PubMed

    Motegi, Sei-ichiro; Yokoyama, Yoko; Uchiyama, Akihiko; Ogino, Sachiko; Takeuchi, Yuko; Yamada, Kazuya; Hattori, Tomoyasu; Hashizume, Hiroaki; Ishikawa, Yuichi; Goto, Makoto; Ishikawa, Osamu

    2014-12-01

    Atypical progeroid syndrome (APS), including atypical Werner syndrome (AWS), is a progeroid syndrome involving heterozygous mutations in the LMNA gene encoding the nuclear protein lamin A/C. We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). A 53-year-old Japanese man had a history of recurrent severe cardiovascular diseases as well as brain infarction and hemorrhages. Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, cataract, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent. In immunofluorescence staining and electron microscopic analyses of the patient's cultured fibroblasts, abnormal nuclear morphology, an increase in small aggregation of heterochromatin and a decrease in interchromatin granules in nuclei of fibroblasts were observed, suggesting that abnormal nuclear morphology and chromatin disorganization may be associated with the pathogenesis of APS/AWS. PMID:25327215

  13. One glasses too many: A case report of Benson's syndrome

    PubMed Central

    Grover, Shivani; Amitava, Abadan Khan; Kumari, Namita

    2015-01-01

    We report a case of Benson's Syndrome, a form of occipital Alzheimer's disease, with posterior cortical atrophy on magnetic resonance imaging, in a 62-year-old male, who presented with visual problems, ascribed to the eyes, and had even undergone cataract/intraocular lens surgery in the right eye; and change of glasses 21 times over the past 2 years, with no apparent benefit. This case is of interest both on account of its rarity, and to highlight its features since the diagnosis may be missed in an ophthalmological setting where such patient may go for first consult. PMID:25971180

  14. A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome

    PubMed Central

    Thakur, Arpita Rai; Naikmasur, Venkatesh G

    2014-01-01

    The clinical classification of Robinow-Sorauf syndrome has changed over the last few decades. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces. The current outlook is that the ‘Robinow-Sorauf’ families are examples of variable expression of the TWIST mutant phenotype and that the ‘Robinow-Sorauf’ syndrome lies within the spectrum of the Saethre-Chotzen syndrome. We present a case of 19-year-old female patient exhibiting classical clinical and radiological features of Robinow-Sorauf phenotype of Saethre-Chotzen syndrome. A brief review of previously reported cases and nosology has been presented. PMID:25565733

  15. A case of newly diagnosed klippel trenaunay weber syndrome presenting with nephrotic syndrome.

    PubMed

    Cebeci, Egemen; Demir, Secil; Gursu, Meltem; Sumnu, Abdullah; Yamak, Mehmet; Doner, Bar?s; Karadag, Serhat; Uzun, Sami; Behlul, Ahmet; Ozkan, Oktay; Ozturk, Savas

    2015-01-01

    Klippel Trenaunay Weber syndrome (KTWS) is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV) malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with nephrotic syndrome. A 52-year-old male was admitted due to dyspnea and swelling of the body for the last three months. The pathological physical findings were diffuse edema, decreased lung sounds at the right basal site, increased diameter and decreased length of the left leg compared with the right one, diffuse variceal enlargements, and a few hemangiomatous lesions on the left leg. The pathological laboratory findings were hypoalbuminemia, hyperlipidemia, increased creatinine level (1.23?mg/dL), and proteinuria (7.6?g/day). Radiographic pathological findings were cystic lesions in the liver, spleen, and kidneys, splenomegaly, AV malformation on the left posterolateral thigh, and hypertrophy of the soft tissues of the proximal left leg. He was diagnosed to have KTWS with these findings. Renal biopsy was performed to determine the cause of nephrotic syndrome. The pathologic examination was consistent with focal segmental sclerosis (FSGS). He was started on oral methylprednisolone at the dosage of 1?mg/kg and began to be followedup in the nephrology outpatient clinic. PMID:26000182

  16. Bobble-head doll syndrome associated with Dandy-Walker syndrome. Case report.

    PubMed

    de Brito Henriques, José Gilberto; Henriques, Karina Santos Wandeck; Filho, Geraldo Pianetti; Fonseca, Luiz Fernando; Cardoso, Francisco; Da Silva, Márcia Cristina

    2007-09-01

    Bobble-head doll syndrome (BHDS) presents in childhood and is usually associated with lesions of the third ventricle. This disorder is characterized by stereotypical head movements of the type "yes-yes" (up and down) at a frequency of 2 to 3 Hz. Rarely, movements of the type "no-no" (side-to-side) are described. There are a few hypotheses to explain the mechanism responsible for BHDS, but its real pathophysiological characteristics are still unknown. The authors describe the case of a child born with hydrocephalus and Dandy-Walker syndrome. A ventriculoperitoneal shunt was implanted in the child because of progressive head enlargement. One year after shunt placement, she began making frequent horizontal head movements of the type "no-no". There were no other signs or symptoms. Imaging studies demonstrated small ventricles and a posterior fossa cyst with no signs of hypertension. The child's growth, development, and head circumference (within the 5th percentile) remained satisfactory. Three aspects of this case were of interest: the association of BHDS with Dandy-Walker syndrome, the rare occurrence of BHDS of the "no-no" type, and the absence of third ventricle dilation. The authors' findings support the hypothesis that cerebellar malformations themselves can PMID:17918536

  17. A Case of Newly Diagnosed Klippel Trenaunay Weber Syndrome Presenting with Nephrotic Syndrome

    PubMed Central

    Cebeci, Egemen; Demir, Secil; Gursu, Meltem; Sumnu, Abdullah; Yamak, Mehmet; Doner, Bar?s; Karadag, Serhat; Uzun, Sami; Behlul, Ahmet; Ozkan, Oktay; Ozturk, Savas

    2015-01-01

    Klippel Trenaunay Weber syndrome (KTWS) is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV) malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with nephrotic syndrome. A 52-year-old male was admitted due to dyspnea and swelling of the body for the last three months. The pathological physical findings were diffuse edema, decreased lung sounds at the right basal site, increased diameter and decreased length of the left leg compared with the right one, diffuse variceal enlargements, and a few hemangiomatous lesions on the left leg. The pathological laboratory findings were hypoalbuminemia, hyperlipidemia, increased creatinine level (1.23?mg/dL), and proteinuria (7.6?g/day). Radiographic pathological findings were cystic lesions in the liver, spleen, and kidneys, splenomegaly, AV malformation on the left posterolateral thigh, and hypertrophy of the soft tissues of the proximal left leg. He was diagnosed to have KTWS with these findings. Renal biopsy was performed to determine the cause of nephrotic syndrome. The pathologic examination was consistent with focal segmental sclerosis (FSGS). He was started on oral methylprednisolone at the dosage of 1?mg/kg and began to be followedup in the nephrology outpatient clinic. PMID:26000182

  18. Brown syndrome with severe amblyopia: a case report from Africa.

    PubMed

    Olusanya, Bolutife Ayokunnu

    2015-01-01

    Brown syndrome is a rare form of strabismus that is characterised by restriction of elevation of the eye in adduction. This is a case report of an eleven year old Nigerian girl who presented with a history of squint and poor vision. She had visual acuities of 6/24 and counting fingers in her right and left eyes respectively. There was a left hypotropia in the primary position of gaze with associated marked restriction of elevation in adduction and a positive forced duction test. Refraction revealed a refractive error of +4.50 diopters in each eye. The right visual acuity improved significantly to 6/9 with the refractive correction while the left visual acuity improved marginally to 6/60. This report demonstrates the occurrence of Brown syndrome with associated severe amblyopia in Africa. Health care providers are encouraged to promptly refer all patients, especially children, who have ocular motility disorders for early specialist intervention. PMID:26090014

  19. Antisynthetase antibody syndrome: case report and review of the literature.

    PubMed

    Uribe, Laura; Ronderos, Diana Maria; Díaz, Maria Claudia; Gutierrez, Juan Martín; Mallarino, Christina; Fernandez-Avila, Daniel Gerardo

    2013-05-01

    Antisynthetase antibody syndrome is a rare autoimmune disease that may present with variable systemic manifestations, mainly polymyositis, interstitial lung disease, skin lesions, and Raynaud's phenomenon. This diagnosis should always come to mind in patients that present with signs of myositis, dermatomyositis, or polymyositis associated with interstitial lung disease. On the following paper, we report the case of a 52-year-old man who presented with a 2-month history of asymmetric polyarthralgia, myalgia, weight loss of 8 kg, and progressive muscle weakness associated with dyspnea, orthopnea, and dysphonia. Further tests revealed myositis, interstitial pneumonia, and elevation of anti-Jo-1 antibodies. A diagnosis of antisynthetase antibody syndrome was made and the patient showed good response to treatment with corticoids and methotrexate. Finally, we present a short review of the literature. PMID:23423441

  20. Brown syndrome with severe amblyopia: a case report from Africa

    PubMed Central

    Olusanya, Bolutife Ayokunnu

    2015-01-01

    Brown syndrome is a rare form of strabismus that is characterised by restriction of elevation of the eye in adduction. This is a case report of an eleven year old Nigerian girl who presented with a history of squint and poor vision. She had visual acuities of 6/24 and counting fingers in her right and left eyes respectively. There was a left hypotropia in the primary position of gaze with associated marked restriction of elevation in adduction and a positive forced duction test. Refraction revealed a refractive error of +4.50 diopters in each eye. The right visual acuity improved significantly to 6/9 with the refractive correction while the left visual acuity improved marginally to 6/60. This report demonstrates the occurrence of Brown syndrome with associated severe amblyopia in Africa. Health care providers are encouraged to promptly refer all patients, especially children, who have ocular motility disorders for early specialist intervention.

  1. Left gastric artery aneurysm in Marfan syndrome: a unique case.

    PubMed

    Powell, Richard Oliver; Babu, Suresh B; Bommayya, Girish

    2015-01-01

    A 78-year-old man presented with abdominal pain, high International Normalised Ratio and rapidly falling haemoglobin. He had a background of Marfan syndrome and was on warfarin following mechanical aortic valve replacement. Abdominal CT imaging showed haemoperitoneum with a leaking aneurysm of the left gastric artery measuring 10?mm in diameter. The decision whether to reverse his anticoagulation provided a difficult clinical scenario given the risk of thrombosis associated with the mechanical aortic valve. The patient went on to have a successful percutaneous embolisation of the aneurysm using a metallic coil and Onyx. Left gastric artery aneurysms are rare and have a reported mortality of up to 70%. This is the first case of gastric artery aneurysm described in a patient with Marfan syndrome. PMID:26123456

  2. Pancreatic hamartoma and SAPHO syndrome: a case report.

    PubMed

    Sampelean, Dorel; Adam, Mircea; Muntean, Valentin; Hanescu, Bianca; Domsa, Iacob

    2009-12-01

    We report the first case of an association of pancreatic hamartoma with SAPHO syndrome mimicking disseminated bone metastases. A 46 year old male with intermittent back pain for 10 years, relieved by NSAIDs and desquamation erythemathous palmo-plantar eruption one year before, presented with symptoms of duodenal stenosis, a cystic tumor at the head of the pancreas and osteoformative (hyperostosis) and osteodestructive (osteitis) lesions of the clavicle, mandible, lumbar spine. The bone lesions resembled bone metastases, but an inflammatory infiltrate and fibrosis were found on the excisional biopsy of left clavicle, compatible with the SAPHO syndrome. The pancreatic tumor grew rapidly and showed a histological aspect of malignancy at laparoscopy. A cephalic duodenopancreatectomy was performed, but the histological findings established the diagnosis of pancreatic hamartoma. Several months later, the bone Tc99m scintigraphy was normal. PMID:20076824

  3. Conversion, dissociative amnesia, and Ganser syndrome in a case of "chameleon" syndrome: anatomo-functional findings.

    PubMed

    Magnin, Eloi; Thomas-Antérion, Catherine; Sylvestre, Geraldine; Haffen, Sophie; Magnin-Feysot, Virgile; Rumbach, Lucien

    2014-01-01

    The term "chameleon" was first used in the seventeenth century by Sydenham to describe a patient with a protean semiology. We report a single case of "chameleon" syndrome that challenges the current international criteria for somatoform disorders, dissociative amnesia, and Ganser syndrome. The florid symptoms were as follows: anterograde and retrograde amnesia (including semantic, episodic, and procedural deficits), loss of identity, atypical neuropsychological impairment (approximate answers), left sensitive and motor deficit, and left pseudochoreoathetosis movement disorders. Additional behavioral disorders included the following: anxiety, clouded consciousness, hallucinations, and "belle indifference". A single photon emission computed tomography examination showed bilateral temporal, frontal and a right caudate (in the head of the caudate nucleus) hypoperfusion concordant with a common mechanism of repression in these disorders. PMID:23075263

  4. A Challenging Case of an Ectopic Cushing Syndrome

    PubMed Central

    Menezes Nunes, Joana; Camões, Isabel; Maciel, João; Cabral Bastos, Pedro; Souto de Moura, Conceição; Bettencourt, Paulo

    2014-01-01

    Bronchopulmonary carcinoids are rare pulmonary neoplasms although they account for most cases of ectopic ACTH syndromes. When feasible, the mainstay treatment is surgical resection of the tumor. We report the case of a 52-year-old woman with signs and symptoms suggestive of hypercortisolism for 12 months, admitted to our department because of community acquired pneumonia. Blood hormone analysis showed increased levels of ACTH and urinary free cortisol and nonsuppressibility to high- and low-dose dexamethasone tests. Pituitary MRI showed no lesion and no central-to-peripheral ACTH gradient was present in bilateral inferior petrosal sinus sampling. CRH stimulation test suggested an ectopic ACTH source. Thoracic CT scan revealed a nodular region measuring 12?mm located in the inferior lingular lobule of the left superior lung with negative uptake by 18-FDG-PET scan and negative SRS. The patient was successfully treated with an atypical lung resection and histology revealed an atypical bronchial carcinoid tumor with positive ACTH immunoreactivity. This was an interesting case because the patient was admitted due to pneumonia that may have been associated with her untreated and chronic hypercortisolism and a challenging case of ectopic ACTH syndrome due to conflicting results on the diagnostic exams. PMID:25431598

  5. CASE REPORT An Unusual Case of Abdominal Compartment Syndrome Following Resection of Extensive Posttraumatic Mesenteric Ossification

    PubMed Central

    Nabulyato, William M.; Alsahiem, Hebah; Hall, Nigel R.; Malata, Charles M.

    2013-01-01

    Introduction: Heterotopic mesenteric ossification is an extremely rare condition, which often follows trauma and is frequently symptomatic. To date, there are no reports in the literature of abdominal compartment syndrome occurring after surgical resection of mesenteric calcification. The present report documents an unusual case of compartment syndrome complicating resection of extensive mesenteric calcification despite abdominal closure with the components-separation technique. Method: A 48-year-old man undergoing components-separation technique for posttraumatic laparostomy hernia repair (ileostomy reversal and sigmoid stricture correction) was found to have extensive heterotopic mesenteric calcification, which needed resection. Results: Resection of the mesenteric calcification was complicated by intraoperative hemorrhage and unplanned small bowel resection. Later the patient developed secondary hemorrhage leading to an abdominal compartment syndrome, which was successfully treated by decompression, hemostasis, and Permacol-assisted laparotomy wound closure. The patient remains symptom-free more than 2 years after surgery. Discussion: The case herein reported gives an account of the rare occurrence of abdominal compartment syndrome following resection of posttraumatic ectopic mesenteric ossifications. It is highly unusual in that it occurred because of “secondary hemorrhage” and despite abdominal closure with the components-separation technique, which had been undertaken precisely to prevent compartment syndrome with direct closure. It therefore highlights the need for continued clinical vigilance in complex posttraumatic cases. PMID:23573333

  6. An infantile case of Sturge-Weber syndrome in association with Klippel-Trenaunay-Weber syndrome and phakomatosis pigmentovascularis.

    PubMed

    Lee, Chang-Woo; Choi, Du-Young; Oh, Yeon-Geun; Yoon, Hyang-Suk; Kim, Jong-Duk

    2005-12-01

    Sturge-Weber syndrome can be associated with facial port-wine stains and intracranial calcification, and concurrent Klippel-Trenaunay-Weber syndrome has been reported. Klippel-Trenaunay-Weber syndrome is a rare congenital mesodermal phakomatosis characterized by cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities. This report is presented a rare case of the Sturge-Weber syndrome in combination with the Klippel-Trennaunay syndrome and phakomatosis pigmentovascularis in a 4-month-old infant. He showed nevus flameus on the right leg and both part of the face and back, leptomeningeal angiomatosis on right hemisphere, hypertrophy of the right leg, hemiconvulsion on the left and also evidences of congenital glaucoma and nevus of Ota. Very rare case combined with these three kinds of phakomatosis has been reported. PMID:16361829

  7. An Infantile Case of Sturge-Weber Syndrome in Association with Klippel-Trenaunay-Weber Syndrome and Phakomatosis Pigmentovascularis

    PubMed Central

    Choi, Du-Young; Oh, Yeon-Geun; Yoon, Hyang-Suk; Kim, Jong-Duk

    2005-01-01

    Sturge-Weber syndrome can be associated with facial port-wine stains and intracranial calcification, and concurrent Klippel-Trenaunay-Weber syndrome has been reported. Klippel-Trenaunay-Weber syndrome is a rare congenital mesodermal phakomatosis characterized by cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities. This report is presented a rare case of the Sturge-Weber syndrome in combination with the Klippel-Trennaunay syndrome and phakomatosis pigmentovascularis in a 4-month-old infant. He showed nevus flameus on the right leg and both part of the face and back, leptomeningeal angiomatosis on right hemisphere, hypertrophy of the right leg, hemiconvulsion on the left and also evidences of congenital glaucoma and nevus of Ota. Very rare case combined with these three kinds of phakomatosis has been reported. PMID:16361829

  8. Marfan syndrome and symptomatic sacral cyst: Report of two cases

    PubMed Central

    Arnold, Paul M.; Teuber, Jan

    2013-01-01

    Context Meningeal abnormalities such as dural ectasia are seen in Marfan syndrome, but spinal meningeal cysts are rarely seen. These cysts usually asymptomatic and often found incidentally on magnetic resonance imaging, large cysts may cause neurological deficits and pain secondary to nerve root compression. Design Case reports. Findings Two patients with Marfan syndrome presented with urinary symptoms secondary to dural ectasia and sacral cysts. Patient 1 had a history of low back pain, erectile dysfunction, and occasional urinary incontinence and groin pain with recent symptom worsening. He underwent L5 partial laminectomy and S1-S2 laminectomy with sacral cyst decompression. Nine weeks later, he underwent drainage of a sacral pseudomeningocele. Pain and urinary symptoms resolved, and he remains neurologically normal 2 years after surgery. Patient 2 presented after a fall on his tailbone, complaining of low back pain and difficulty urinating. Physical therapy was implemented, but after 4 weeks, urinary retention had not improved. He then underwent resection of the sacral cyst and S1-S3 laminectomy. Pain and paresthesias resolved and bowel function returned to normal. Other than needing intermittent self-catheterization, all other neurologic findings were normal 30 months after surgery. Conclusion/clinical relevance Surgical goals for sacral cysts include resection as well as closure of the dura, which can be challenging due to thinning from ectasia. Neurosurgical intervention in Marfan syndrome is associated with a high risk of dural tears and osseous complications, and should be performed only when symptoms are severe. PMID:23941798

  9. Unusual case of orbital apex syndrome after chalazion excision.

    PubMed

    Milia, Maria; Lefatzis, Nikolaos; Papakosta, Veroniki; Theodossiadis, Panagiotis; Papathanassiou, Miltiadis

    2013-05-01

    Orbital apex syndrome represents a heterogeneous group of disorders. It involves damage to the third, fourth and sixth nerves and the ophthalmic division of the fifth cranial nerve, and results in optic neuropathy. An 80-year-old man presented to our emergency clinic with left acute visual loss and three-day history of ocular pain. His medical and ophthalmic history involved diagnosis of lung cancer and chalazion excision two weeks prior to presentation. There was total left ophthalmoplegia, vision was 'no light perception' and he had a relative afferent pupillary defect. An urgent computed tomography scan of the orbits showed sub-periosteal abscess on the lateral wall of the orbit extending to the optic canal. The muscle cone was unaffected. The diagnosis was orbital apex syndrome. He underwent urgent drainage of the abscess and Staphylococcus aureus was identified with Gram stain. He was systemically administered intravenous antibiotics and steroids. His visual acuity and ophthalmoplegia improved rapidly 12?hours after surgery. Prompt diagnosis and treatment in cases of orbital apex syndrome, especially in immunocompromised patients, is important to prevent visual and life-threatening complications. PMID:22957835

  10. [Asperger syndrome with highly exceptional calendar memory: a case report].

    PubMed

    Sevik, Ali Emre; Cengel Kültür, Ebru; Demirel, Hilal; Karl? O?uz, Kader; Akça, Onur; Lay Ergün, Eser; Demir, Ba?aran

    2010-01-01

    Some patients with pervasive developmental disorders develop unusual talents, which are characterized as savant syndrome. Herein we present neuropsychological examination and brain imaging (fMRI and brain SPECT) findings of an 18-year-old male with Asperger syndrome and highly unusual calendar memory. Neuropsychological evaluation of the case indicated mild attention, memory, and problem solving deficits, and severe executive function deficits that included conceptualization, category formation, and abstraction. Functional MRI findings showed activation above the baseline level (P<0.05) in the bilateral inferior parietal lobule, precuneus, superior and middle frontal gyri, and medial frontal cortex. Brain SPECT findings, in comparison to rest-SPECT findings, showed that there was hypoperfusion in some brain regions, including the right frontal cortex and right parietal cortex. Baseline blood perfusion in the left frontal cortex was also observed, as well as hypoperfusion in the right parietal-occipital cortex and in the right basal ganglion (compared to the left side). The results of the present study and further research will contribute to our understanding of calendar memory and savant syndrome. PMID:20818513

  11. [Case of organizing pneumonia associated with sweet's syndrome].

    PubMed

    Nishimoto, Koji; Suzuki, Seiichiro; Uto, Tomohiro; Sagisaka, Shinya; Sato, Jun; Imokawa, Shiro; Yasuda, Kazumasa; Kageyama, Hazuki; Suda, Takafumi

    2014-07-01

    A 76-year-old male was admitted to our hospital because of fever and erythema on the face and extremity. Skin biopsy of the erythematous lesions showed dense neutrophilic infiltrations and diagnosis of Sweet's syndrome was made. Chest computed tomography on admission revealed ground glass opacities in the right upper and lower lung fields. Bronchoalveolar lavage (BAL) showed increased lymphocytes and neutrophils. A search for bacteria, mycobacteia and fungi in BAL fluid was negative. Trans-bronchial lung biopsy revealed intraluminal organization and fibrinous exudates. Neutrophilic infiltrations were scant. These pathological findings were compatible with organizing pneumonia. Bone marrow aspiration was performed because of slight anemia and thrombocytopenia, and a diagnosis of myelodysplastic syndrome was made. Oral prednisone (PSL) of 30 mg/day induced rapid resolution of radiologic and cutaneous lesions and was tapered to 10 mg/day, then radiologic lesions worsened. Steroid pulse therapy followed by PSL 45 mg and immunosuppressive agent resulted in a resolution of his conditions. This case was rare in that organizing pneumonia was associated with Sweet's syndrome. PMID:25163580

  12. A Case of IFAP Syndrome with Severe Atopic Dermatitis.

    PubMed

    Araújo, Catarina; Gonçalves-Rocha, Miguel; Resende, Cristina; Vieira, Ana Paula; Brito, Celeste

    2015-01-01

    Introduction. The IFAP syndrome is a rare X-linked genetic disorder characterized by the triad of follicular ichthyosis, atrichia, and photophobia. Case Report. A three-month-old Caucasian, male patient was observed with noncicatricial universal alopecia and persistent eczema from birth. He had dystrophic nails, spiky follicular hyperkeratosis, and photophobia which became apparent at the first year of life. Short stature and psychomotor developmental delay were also noticed. Histopathological examination of skin biopsy on left thigh showed epidermis with irregular acanthosis, lamellar orthokeratotic hyperkeratosis, and hair follicles fulfilled by parakeratotic hyperkeratosis. The chromosomal study showed a karyotype 46, XY. Total IgE was 374?IU/mL. One missense mutation c.1360G>C (p.Ala454Pro) in hemizygosity was detected on the MBTPS2 gene thus confirming the diagnosis of IFAP syndrome. Conclusions. We describe a boy with a typical clinical presentation of IFAP syndrome and severe atopic manifestations. A novel missense mutation c.1360G>C (p.Ala454Pro) in MBTPS2 gene was observed. The phenotypic expression of disease is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol and endoplasmic reticulum homeostasis. It can cause epithelial disturbance with failure in differentiation of epidermal structures and abnormal skin permeability barrier. However, no correlation phenotype/genotype could be established. PMID:25685152

  13. [Guillain-Barre syndrome in children. Report of 39 cases].

    PubMed

    Tabarki, B; Othmani, K; Oubich, F; Yacoub, M; Selmi, H; Abroug, S; Attia, L; Barsaoui, S; Harbi, A; Essoussi, A S

    2001-03-01

    The authors report a retrospective study of 39 cases of Guillain-Barré syndrome in children. Including 23 boys and 16 girls. The mean age was 4 years (14 months to 10 years). A history of infection preceded the polyradiculoneuritis in 75% of cases. The mean duration of extensive phase and of the maximum paralysis was 10 days. A severe respiratory involvement was observed in 9 children and cranial nerve paralysis in 8 children. An early raised cerebrospinal fluid protein concentration was found in 95%. Electrodiagnostic studies, performed in 37 patients, showed nerve conduction velocity slowing in all cases. 28 children (73%) recovered clinically, 8 patients (20%) had residual deficits and 3 patients (7%) died. PMID:11471449

  14. Wells’ Syndrome Mimicking Facial Cellulitis: A Report of Two Cases

    PubMed Central

    Cormerais, Maxence; Poizeau, Florence; Darrieux, Laure; Tisseau, Laurent; Safa, Gilles

    2015-01-01

    Wells’ syndrome (WS), or eosinophilic cellulitis, is an uncommon inflammatory dermatosis of unknown etiology that typically presents with pruritic cellulitis-like plaques on the extremities. Therefore, WS is often misdiagnosed as bacterial cellulitis due to its similarity in presentation. Here, we report two cases of WS that masqueraded as bacterial facial cellulitis. Under treatment with oral prednisone and/or a combination therapy with levocetirizine and hydroxyzine, both patients showed a dramatic improvement of the skin lesions. These cases highlight the need for clinicians to consider WS in the differential diagnosis when evaluating a patient with facial cellulitis that does not respond to an initial antimicrobial regimen. In addition, our cases suggest that combination therapy with levocetirizine and hydroxyzine may be successfully used as corticosteroid-sparing treatment or to prevent relapse after the discontinuation of corticosteroid treatment. PMID:26120307

  15. Asperger Syndrome: An Educational Case-Study of a Preschool Boy.

    ERIC Educational Resources Information Center

    Carruthers, Anne; Foreman, Philip J.

    1989-01-01

    This case study describes a boy diagnosed at age three as having Asperger syndrome. The study focuses on behavioral and developmental problems associated with the syndrome and discusses how these were managed to help the child function in normal educational settings. The distinction between Asperger syndrome and high-functioning autism is also…

  16. Malouf Syndrome with Hypergonadotropic Hypogonadism and Cardiomyopathy: Two-Case Report and Literature Review

    PubMed Central

    ?ilfeler, Dilek Benk; Karateke, Atilla; Keskin Kurt, Raziye; Aldemir, Özgür; Bu?ra Nacar, Alper; Balo?lu, Ali

    2014-01-01

    Malouf syndrome is a very rarely encountered syndrome which was first diagnosed in 1985 upon the examination of two sisters, with findings of hypergonadotropic hypogonadism, dilated cardiomyopathy, blepharoptosis, and broad nasal base. Later on, Narahara diagnosed another sporadic case with the same findings. A survey of relevant literature leads us to three women cases in total. Here we present two cases of Malouf syndrome and literature review. PMID:25544917

  17. Adult-Onset Woakes' Syndrome: Report of a Rare Case

    PubMed Central

    Tasman, A. J.

    2015-01-01

    Introduction. Woakes' syndrome, commonly defined as severe recurrent nasal polyps with consecutive destruction of the nasal pyramid, is rare with only a few reports in the literature documenting surgical treatment of the external nose. Case Presentation. We describe the case of an adult patient with Samter's triad who had been surgically treated from nasal polyposis since 2002. By 2014 a conspicuous deformity of the nasal pyramid had progressively occurred due to a recurrence. The patient underwent revision endoscopic sinus surgery and narrowing of the bony nasal vault by digital compression without osteotomies. Discussion. Having been described over 130 years ago, the etiology of Woakes' syndrome remains poorly understood. Treatment includes endoscopic sinus surgery and topical treatment. Surgical treatment of the external nose deformity by rhinoplasty is rarely addressed. Conclusion. This case illustrates that the widening of the bony nasal vault may be successfully corrected by digital compression, if the nasal bones are substantially thinned, in combination with surgical treatment of nasal polyps. PMID:25861503

  18. Case report and literature review of popliteal artery entrapment syndrome

    PubMed Central

    Skeik, Nedaa; Thomas, Taylor M; Engstrom, Bjorn I; Alexander, Jason Q

    2015-01-01

    Popliteal artery entrapment syndrome (PAES) is an uncommon condition resulting from an abnormal anatomic relationship between the popliteal artery and the surrounding musculature. The compression created by this variance in anatomy can lead to ischemia and vascular claudication. The diagnosis of PAES requires a thorough patient history and physical exam, a high index of suspicion, and dedicated imaging techniques. Several treatment options are available, including surgical intervention, thrombolysis, or a combination of these depending on the clinical indication. We present a case of PAES in a 34-year-old man who presented with typical symptoms illustrative of the complicated decision making related to this disorder. PMID:26185463

  19. Painful ophthalmoplegia: a case of Tolosa-Hunt syndrome.

    PubMed

    Singh, Mohenish K; Marshall, Brittany; Hawley, John

    2014-11-01

    Unilateral painful opthalmoplegia involving the third, fourth, or sixth cranial nerve in association with a retro-orbital mass should be evaluated for rheumatologic conditions and malignancy. The assessment may require a biopsy of the mass. Once cancer and autoimmune conditions such as sarcoidosis have been ruled out, Tolosa-Hunt should be considered. Tolosa-Hunt is a rare condition that presents as an acute unilateral eye pain with motor dysfunction and responds to prolonged treatment with corticosteroids. Presented is a case of Tolosa-Hunt syndrome. PMID:25373075

  20. Nicolau syndrome in patient following diclofenac administration: a case report.

    PubMed

    Kim, Kwang-Kyoun

    2011-11-01

    Nicolau syndrome is a rare adverse reaction to a variety of intra-muscular drug preparations. The typical presentation is pain around the injection site soon after injection, followed by erythema, livedoid patch, hemorrhagic patch, and finally, necrosis of skin, subcutaneous fat, and muscle tissue. The phenomenon has been related to the administration of a variety of drugs, including non-steroidal anti-inflammatory drugs, corticosteroids, and penicillin. We report a case with typical features associated with diclofenac injection for pain control in a patient who had undergone bilateral total knee arthroplasty. PMID:22148020

  1. Nicolau Syndrome in Patient Following Diclofenac Administration: A Case Report

    PubMed Central

    2011-01-01

    Nicolau syndrome is a rare adverse reaction to a variety of intra-muscular drug preparations. The typical presentation is pain around the injection site soon after injection, followed by erythema, livedoid patch, hemorrhagic patch, and finally, necrosis of skin, subcutaneous fat, and muscle tissue. The phenomenon has been related to the administration of a variety of drugs, including non-steroidal anti-inflammatory drugs, corticosteroids, and penicillin. We report a case with typical features associated with diclofenac injection for pain control in a patient who had undergone bilateral total knee arthroplasty. PMID:22148020

  2. Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature.

    PubMed

    Hodhod, Amr; Umurangwa, Florence; El-Sherbiny, Mohamed

    2015-01-01

    We report a case of 4 months old infant diagnosed as Klinefelter syndrome associated with perineal hypospadias, severe ventral chordee and complete penoscrotal transposition. A review of previous reported cases was carried out. Penoscrotal malformations at birth are very rare in Klinefelter syndrome. Awareness of the current standard indications of Karyotyping can help early detection of these cases. PMID:26029310

  3. Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature

    PubMed Central

    Hodhod, Amr; Umurangwa, Florence; El-Sherbiny, Mohamed

    2015-01-01

    We report a case of 4 months old infant diagnosed as Klinefelter syndrome associated with perineal hypospadias, severe ventral chordee and complete penoscrotal transposition. A review of previous reported cases was carried out. Penoscrotal malformations at birth are very rare in Klinefelter syndrome. Awareness of the current standard indications of Karyotyping can help early detection of these cases.

  4. Pathological gambling plus hypersexuality in restless legs syndrome: a new case.

    PubMed

    d'Orsi, Giuseppe; Demaio, Vincenzo; Specchio, L M

    2011-08-01

    Emerging clinical data indicate that dopaminergic agonists used to treat restless legs syndrome may be associated with dopamine dysregulation syndrome, particularly pathological gambling. We report a new case with pathological gambling plus hypersexuality and impotence in an old patient treated with a small dose (0.18 mg daily at bedtime) of pramipexole for restless legs syndrome for 5 months. The time relationship and the resolution upon discontinuation of dopaminergic agonists suggest a causative association. Our new case confirms that restless legs syndrome patients should be cautioned about potential dopamine dysregulation syndrome coinciding with dopaminergic agonists, as it can be reversed by drug withdrawal. PMID:21567182

  5. A Case of Cerebello-oculo-renal Syndrome with Situs Inversus Totalis: A New Phenotype

    Microsoft Academic Search

    Secil Aydinoz; Atilla Ersen; Ferhan Karademir; Selami Suleymanoglu; Halit Ozkaya; Ismail Gocmen

    2007-01-01

    Cerebello-oculo-renal syndromes are rare, autosomal recessive syndromes with uncertain nosology. Cerebello-oculo-renal syndromes involve many congenital malformations and may be associated with other disorders. The authors present a case of cerebello-oculo-renal syndrome with situs inversus totalis from a consanguineous family. The patient had cerebellar vermis hypoplasia, ocular abnormalities (Leber congenital amaurosis with retinal dystrophy, abnormal eye movements), developmental delay, growth deficiency,

  6. Progressive supranuclear palsy-like syndrome after aortic aneurysm repair: a case series.

    PubMed

    Nandipati, Sirisha; Rucker, Janet C; Frucht, Steven J

    2013-01-01

    The syndrome of progressive supranuclear palsy-like syndrome is a rare complication of ascending aortic aneurysm repair. We report two patients with videos and present a table of prior reported cases. To our knowledge there is no previously published video of this syndrome. The suspected mechanism is brainstem injury though neuroimaging is often negative for an associated infarct. We hope our report will increase recognition of this syndrome after aortic surgery, especially in patients with visual complaints. PMID:24386607

  7. Reversible Pisa syndrome associated to subdural haematoma: case-report

    PubMed Central

    2014-01-01

    Background Pisa Syndrome or Pleurothotonus is a relatively rare truncal dystonia, characterized by tonic flexion of the trunk and head to one side with slight rotation of the body. Since frequently associated to specific drugs such as antipsychotics and cholinesterase inhibitors or to Parkinson Disease, a pathophysiological role of cholinergic-dopaminergic imbalance has been suggested. We report here the first case of Pisa Syndrome due to an extracerebral pathology as subdural haematoma. Case presentation A hypertensive patient was admitted to Our Department for subacute onset of tonic flexion and slight rotation of the trunk associated to progressive motor deficit in left upper limb after a mild head trauma without loss of consciousness occurred around three month before. No previous or current pharmacological interventions with antidepressant, neuroleptic or anticholinergic drugs were anamnestically retrieved. Familiar and personal history was negative for neurological disorders other than acute cerebrovascular diseases. Acutely performed cerebral MRI with DWI showed a voluminous right subdural haematoma with mild shift of median line. After surgical evacuation, both motor deficit and truncal dystonia were dramatically resolved. At one-year follow up, the patient did not develop any extrapyramidal and cognitive signs or symptoms. Conclusions According to many Authors, the occurrence of truncal dystonia during several pharmacologic treatments and neurodegenerative disorders (such as Alzheimer disease and parkinsonian syndromes) supported the hypothesis that a complex dysregulation of multiple neurotransmitter systems are involved. We suggest a possible role of basal ganglia compression in pathogenesis of truncal dystonia by means of thalamo-cortical trait functional disruption and loss of proprioceptive integration. A further contribution of the subcortical structure displacement that alters motor cortex connectivity to basal ganglia may be postulated. PMID:25123109

  8. Acute haemorrhagic diarrhoea syndrome in dogs: 108 cases.

    PubMed

    Mortier, F; Strohmeyer, K; Hartmann, K; Unterer, S

    2015-06-13

    No prospective studies including large numbers of dogs with acute haemorrhagic diarrhoea syndrome (AHDS) are published so far. The aim of this case-control study was to describe signalment, history, clinical signs, laboratory values and course of disease in dogs with AHDS. Dogs (108) with idiopathic acute haemorrhagic diarrhoea (<3?days) were prospectively enrolled. Clinical assessment was performed by calculation of the 'AHDS index' (0-18). The hospital population and 21 healthy dogs served as control groups. Dogs with AHDS had a significantly lower body weight (median 9.8?kg) and age (median five years) than other dogs of the hospital population (20?kg; 10?years) (P<0.001). Predisposed breeds were Yorkshire terrier, miniature pinscher, miniature schnauzer and Maltese. The syndrome was more likely to occur during winter. Vomiting preceded the onset of bloody diarrhoea in 80 per cent of dogs and haematemesis was observed in half of those cases. Median AHDS index at presentation was 12 (range 3-17). Haematocrit was generally high (median 57.1 per cent; range 33-76 per cent), but exceeded 60 per cent only in 31.4 per cent of dogs. Haematocrit of 48.1 per cent of dogs was above reference range, as was monocyte (50.0 per cent), segmented (59.6 per cent) and band neutrophil count (45.2 per cent). A rapid clinical improvement occurred during the first 48?hours. PMID:26023146

  9. Conservative management of a case of tarsal tunnel syndrome

    PubMed Central

    Hudes, Karen

    2010-01-01

    Objective: This case study was conducted to evaluate the treatment and management of a patient presenting with chronic foot pain, diagnosed as tarsal tunnel syndrome. Case: 61 year old female presenting with plantar and dorsal foot pain and burning sensation of 6 months duration. Treatment: Treatment was initiated using custom orthotics only for the first ten weeks of care as the patient did not follow up or initially respond to follow up calls placed by the practitioner. A course of high-velocity, low-amplitude adjustments using a toggle board to the cuboid and the talonavicular joint and fascial stripping was added upon report from the patient that the orthotic therapy alone did not resolve the symptoms. Improvement of pain reported on the Verbal Rating Scale was noted with a complete resolution of the condition at the conclusion of treatment. No pain was reported on a ten month follow up with the patient. Conclusion: Conservative management, including orthotics, manipulation, and fascial stripping may be beneficial in the treatment of tarsal tunnel syndrome. PMID:20520754

  10. Oculo-palatal-cerebral syndrome: a second case.

    PubMed

    Pellegrino, J E; Engel, J M; Chavez, D; Day-Salvatore, D

    2001-03-15

    Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy. There has been one report of a consanguineous family with three affected children, suggesting autosomal recessive inheritance. We report on the second case of this disorder. Our patient, a 2-year-old boy, had growth delay, microcephaly, bilateral persistent hyperplastic primary vitreous with right microphthalmia, long ears with thickened helices, small hands and feet, highly arched palate, joint hypermobility, hypoplastic nails, frontal cerebral atrophy and thinning of the corpus callosum on brain magnetic resonance imaging, and mild developmental delay. He has much milder features than those seen in the previously reported cases. PMID:11241490

  11. A case report of pornography addiction with dhat syndrome.

    PubMed

    Darshan, M S; Sathyanarayana Rao, T S; Manickam, Sam; Tandon, Abhinav; Ram, Dushad

    2014-10-01

    A case of pornography addiction with dhat syndrome was diagnosed applying the existing criteria for substance dependence in International Classification for Diseases-10 and Diagnostic and Statistical Manual of Mental Disorders Fourth Edition, Text Revision. There is a lack of clear-cut criteria for identifying and defining such behavioural addictions and also lack of medical documents on pornography addiction. An applied strategy in lines with any substance addiction is used, and we found it helped our patient to gradually deaddict and then completely quit watching pornography. This is one of the few cases being reported scientifically, and we hope more work will be carried out in this ever increasing pornography addiction problem. PMID:25568482

  12. A case report of pornography addiction with dhat syndrome

    PubMed Central

    Darshan, M. S.; Sathyanarayana Rao, T. S.; Manickam, Sam; Tandon, Abhinav; Ram, Dushad

    2014-01-01

    A case of pornography addiction with dhat syndrome was diagnosed applying the existing criteria for substance dependence in International Classification for Diseases-10 and Diagnostic and Statistical Manual of Mental Disorders Fourth Edition, Text Revision. There is a lack of clear-cut criteria for identifying and defining such behavioural addictions and also lack of medical documents on pornography addiction. An applied strategy in lines with any substance addiction is used, and we found it helped our patient to gradually deaddict and then completely quit watching pornography. This is one of the few cases being reported scientifically, and we hope more work will be carried out in this ever increasing pornography addiction problem. PMID:25568482

  13. Oculo-ectodermal syndrome: A case report and further delineation of the syndrome

    PubMed Central

    Habib, Fajish; Elsaid, Mahmoud F.; Salem, Khalid Yacout; Ibrahim, Khalid Omer; Mohamed, Khalid

    2014-01-01

    Oculo-ectodermal syndrome (OES - OMIM 600628), also known as Toriello Lacassie Droste syndrome, is a very rare condition, first described by Toriello et al., in 1993. OES has been proposed to be a mild variant of encephalocraniocutaneous lipomatosis (ECCL). It is characterized by aplasia cutis congenita (ACC), epibulbar dermoids, coarctation of the aorta, arachnoid cysts in the brain, seizure disorder, hyperpigmented nevi, non-ossifying fibromas and a predisposition to develop giant cell tumors of the jaw. There are few reported cases of OES worldwide but with no definite diagnostic criteria yet. We present a case in a child with unilateral hyperpigmented nevi and ACC on the scalp, ocular lesions (lipodermoid cysts and coloboma), temporal arachnoid cyst, spinal lipomatosis and aortic coarctation with the aim of enhancing the foundation to establish diagnostic criteria for this condition. It additionally serves as a teaching point to emphasize the importance of pursuing a definite diagnosis when faced with such a multisystem illness, to counsel patients and their parents regarding long term morbidity and overall prognosis. PMID:25745601

  14. The eleventh reported case of Mulvihill-Smith syndrome in the literature

    PubMed Central

    2014-01-01

    Background The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described. Case presentation This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed. Conclusions Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome. PMID:24397283

  15. A case of nephrotic syndrome, showing evidence of response to saquinavir.

    PubMed

    Walters, Giles; Choudhury, Faisal A; Nanayakkara, Budhima

    2015-01-01

    The treatment of primary nephrotic syndrome such as minimal change nephropathy, membranous nephropathy, and focal segmental glomerulosclerosis nephropathy remains challenging. Whilst most cases of idiopathic nephrotic syndrome respond to steroid therapy and experience a limited number of relapses prior to complete remission, some cases suffer from frequent relapses and become steroid dependent or are primarily steroid resistant. Treatment options are limited to immunosuppressive drugs with significant side effect profiles. New modalities targeting novel pathways in the pathogenesis of nephrotic syndrome are actively sought. Here we report the case of a patient with steroid dependent focal segmental glomerulosclerosis (FSGS) nephrotic syndrome with a favourable response to a novel proteasome inhibitor saquinavir. PMID:25802775

  16. Sleep-related eating disorder: a case report of a progressed night eating syndrome.

    PubMed

    Shoar, Saeed; Naderan, Mohammad; Shoar, Nasrin; Dehpour, Ahmad Reza; Khorgami, Zhamak; Hoseini, Sayed Shahabuddin

    2012-01-01

    Night eating syndrome is a common disorder in eating behaviors that occurs in close relation to the night time sleep cycle. Although eating disorders are common in society, night eating syndrome has been left neglected by health care professionals. In this report we present a case of eating disorder that exhibits some novel features of night eating syndrome. Our case was a progressed type of eating disorder which may increase awareness among physicians about sleep-related eating disorders. PMID:22930387

  17. Recognition and management of hungry bone syndrome--a case report.

    PubMed

    Hisham, A N; Aina, E N; Zanariah, H

    2000-03-01

    Hungry bone syndrome (HBS) following successful parathyroid surgery is a well described phenomenon. However, few studies have clearly addressed this syndrome or looked at the outcome of perioperative management. We report a case of HBS following successful parathyroid surgery. The perioperative management is discussed and literature pertaining to this interesting case is reviewed. PMID:11072498

  18. A case of Sturge-Weber syndrome with peculiar venous abnormalities

    Microsoft Academic Search

    Kenzo Hamano; Misako Ito; Kei Inai; Tadao Nose; Hitoshi Takita

    1993-01-01

    A case of Sturge-Weber syndrome with poor filling of the deep cerebral venous system is reported. Usually in this syndrome, enlargement of the internal cerebral, basal Rosenthal, deep medullary, and subependymal veins is revealed by angiography. The abnormality of the deep cerebral venous system in this case corresponded to diffuse faint calcification of the right parietal parenchyma. This was accompanied

  19. A Boy with a Mild Case of Cornelia de Lange Syndrome with Above Average Intelligence.

    ERIC Educational Resources Information Center

    Lacassie, Yves; Bobadilla, Olga; Cambias, Ron D., Jr.

    1997-01-01

    Describes the characteristics of an 11-year-old boy who represents the only documented case of an individual with Cornelia de Lange syndrome who also has above average cognitive functioning. Major diagnostic criteria for de Lange syndrome and comparisons with other severe and mild cases are discussed. (Author/CR)

  20. [A case of noninvasive sinus aspergillosis showing orbital apex syndrome].

    PubMed

    Tanaka, Akihiro; Yoshida, Tomokatsu; Isayama, Reina; Fujiwara, Yasuhiro; Kasai, Takashi; Nakagawa, Masanori

    2011-03-01

    A 78-year-old man was admitted to our hospital with headache, nasal pain, left-sided ptosis, loss of visual field in his left eye, and left ophthalmoplegia. Serum levels of beta-D-glucan were elevated. T1-weighted magnetic resonance imaging with gadolinium enhancement showed hyperintense lesions in the left orbital apex and dura mater of the left middle cranial fossa. A few days later, culture of specimens collected by surgical debridement from the left sphenoidal sinus revealed numerous branching hyphae. The aspergillus antigen was found in the cerebrospinal fluid (CSF). Therefore, aspergillosis causing orbital apex syndrome was diagnosed. Administration of amphotericin B prevented further worsening of the patient's infection. Although noninvasive sinus aspergillosis showed that fungus did not destroy tissues in general, the condition resulted in intracranial impairments observed in this case, including orbital apex syndrome and hypertrophic pachymeningitis. Furthermore, detection of the aspergillus antigen in CSF was a clue for the diagnosis of aspergillosis, and administration of antifungal drugs in the early stages of infection was an effective treatment PMID:21485170

  1. First bite syndrome after deep lobe parotidectomy: case report.

    PubMed

    Houle, Ashley; Mandel, Louis

    2014-08-01

    First bite syndrome (FBS) has recently been recognized in published medical studies; however, only 2 cases have been reported in dental studies. The syndrome was defined by Netterville and Civantos and Netterville et al as originating from a postoperative complication after parapharyngeal space (PPS) surgery. The most frequent reason for PPS surgery is the presence of a deep lobe parotid gland (PG) neoplasm, with cervical schwannoma the second most common lesion mandating surgery in this space. Surgical therapeutic procedures in the PPS for these tumors can inadvertently ablate the sympathetic nerve supply to the PG. Subsequently, with the first introduction of food into the mouth, severe intense and debilitating pain will develop and radiate through the upper neck, PG, and auricular regions on the ipsilateral surgical side. The intense pain will last approximately 5 seconds.With continued mastication, the pain will subside, but not totally abate. After the meal, the pain will gradually disappear, only to return with the next masticatory period. The pain is initiated by salivation, whether by food or the thought of food and will be accentuated by acidic sialogogic foods. Usually, with the passage of time, some gradual improvement in the intensity and frequency of the pain episodes can be anticipated. PMID:24685123

  2. Neuro-ocular cutaneous syndrome: a case report.

    PubMed

    Onesti, M G; Trignano, E; Fino, P; Scuderi, N

    2009-08-01

    Neuro-ocular cutaneous syndrome is a rare and little-known illness. It affects the ocular apparatus, the nervous system and the skin. The disease causes pathologies such as phacomatosis, which is a generic term used to describe small cutaneous neoformations, as well as other ectodermal organ malformations (ocular apparatus and central nervous system). The symptoms of this disease are ocular, neurological and dermatological and can include: corneal opacity, papillary coloboma, optical atrophy, epibulbar dermoids, corectopia, palpebral coloboma, frontoparietal alopecia, epilepsy, psychomotor delay, pedunculated skin growths, a yellowing of the frontal area, milled papules, milled patches of skin, cutaneous spotting, familial angioma and hemiplegia. Due to the complexity of this disease, it is imperative that specialists (including ophthalmologists, neurologists, dermatologists, plastic surgeons, pediatricians and genetics) examine a great number of families affected by this rare pathology in a precise, accurate and ongoing manner. The clinical case of a 15 year-old patient (who was diagnosed at 10 months old) affected by the neuro-ocular cutaneous syndrome will be discussed below. PMID:19755953

  3. Coronary subclavian steal syndrome: a case-based review.

    PubMed

    Kilic, I D; Alihanoglu, Y I; Yildiz, B S; Taskoylu, O; Evrengul, H

    2015-04-01

    Internal mammary artery (IMA) grafts have been shown to be superior to saphenous vein grafts in terms of rare atherosclerotic involvement, biochemical and physical qualities, and long-term patency rates. The IMA originates from the subclavian artery, just distal to the vertebral artery, and an occlusion or a hemodynamically significant stenosis proximal to the IMA ostium would cause a pressure drop distally and a reversal of flow from the coronary arteries to the IMA in patients with this graft. This condition is referred to as "coronary subclavian steal syndrome" (CSSS). In most cases, the cause of this syndrome is atherosclerotic disease; however, other causes of subclavian artery stenosis (SAS) have the potential to lead to CSSS. Patients with CSSS present with the symptoms of myocardial ischemia due to coronary steal, vertebrobasilar insufficiency, or limb ischemia. Discrepancy in the blood pressure (BP) measurements in two arms should warn the clinician of SAS. A diminished pulse or the bruit of jet flow on the lesion side can be noticed. Doppler ultrasonography, computed tomography angiography, and magnetic resonance angiography are safe and accurate noninvasive modes of diagnosis. Treatment can be surgical or percutaneous. PMID:23925413

  4. Tarsal tunnel syndrome. Outcome of surgery in longstanding cases.

    PubMed

    Turan, I; Rivero-Melián, C; Guntner, P; Rolf, C

    1997-10-01

    Cases of longstanding (median, 60 months) tarsal tunnel syndrome were decompressed surgically in 14 female and four male patients. Patients reported intermittent dysesthesia, paresthesia, or anesthesia at the medial plantar aspect of the foot. Symptoms were aggravated by physical activities. Previous trauma was noted in four patients. Tinel's sign was positive in 16 patients. Magnetic resonance imaging was performed in 10 patients but was conclusive in only two. At surgery, the posterior tibial nerve or one of its branches was found to be entrapped in 15 patients. Entrapments were observed isolated or in combination within the fascial septa (n = 5), varicose veins (n = 6), scar tissues (n = 4), tenosynovitis and edema (n = 1), or within the abductor hallucis muscle (n = 1). Two neuromas were excised. In three patients no obvious entrapments were found. Clinical followup was performed a median 18 months after surgery. Relief of symptoms was reported as long as 1 year after surgery. All symptoms were relieved in 11 (61%) patients. Three (17%) patients with previous trauma had relatively severe pain after surgery and were considered to have failed results. Surgical decompression was beneficial in most patients with longstanding tarsal tunnel syndrome. PMID:9345220

  5. [HIV associated nephropathy syndrome: a case report in Dakar].

    PubMed

    Dia, D; Fall, K; Niang, A; Guibal, A; Fall, S; Dieng, M; Diallo, I; Debonne, J M

    2004-01-01

    HIV associated nephropathy syndrome ( HIVAN Syndrome ) is a recently identified entity and no study has been done in Senegal. So we report this observation. A 40 years old black patient was admitted for renal oedema syndrome and immunosuppressive signs. The biological investigations noticed a non-pur nephrotic syndrome and severe renal failure. Ultrasonography showed quite normal kidney sizes with hyper echogenicity and dediferenciation. HIV research was positive with 45 CD4 lymphocytes / mm3. This patient had no known causes of nephrotic syndrome ( diabetis, lupus ,amyloidosis.). So the diagnosis of HIVAN syndrome was determined with the clinical features and the bad outcome. We emphasize on the necessity to think about HIVAN in every black patient presenting a quickly progressive non-pur nephrotic syndrome. We expect prospectives studies to describe the clinical signs and the frequency of HIVAN syndrome in Senegal. PMID:15782480

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

    PubMed Central

    Mocarzel, Luis; Lanzieri, Pedro; Nascimento, Juliana; Peixoto, Clara; Ribeiro, Mário; Mesquita, Evandro

    2015-01-01

    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. PMID:25874140

  7. Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers

    PubMed Central

    Anjaneyan, Gopikrishnan; Chaudhari, Arvind; Pilani, Abhishek P

    2014-01-01

    Ectodermal dysplasia is a rare disorder. Christ-Siemens-Touraine syndrome (Hypohidrotic Ectodermal dysplasia (HED)) is a diffuse, non-progressive disease present at birth and involves at least two tissues of ectodermal origin. It is caused by mutation in gene ectodysplasin (EDA, EDA1) located at Xq12-13. Main clinical feature of HED is sparse or absent eccrine gland as well as hypotrichosis, nail, and teeth abnormality with characteristic faces. The absence or diminished activity of sweat gland results in patients having more chances of developing hyperthermia and with intolerance to warm environment. Most do well with simple measures such as wet clothes, air conditioning, wet bands etc. We present cases of two brothers, born of non-consanguineous marriage, who presented to us with complaints of heat intolerance and abnormal facial features. PMID:25478435

  8. [Efficacy of meloxicam in juvenile polyposis syndrome. A case report].

    PubMed

    Lorusso, Monica; Mangiantini, Francesca; Pozzi, Elena; Nucci, Andrea; Bronzini, Francesca; Bevilacqua, Silvia; Lionetti, Paolo

    2009-01-01

    The Authors present a case of a 11 year-old patient with a history of Juvenile Polyposis Syndrome (JPS), a condition characterized by the occurrence of multiple hamartomatous polyps in the gastrointestinal tract. Patients with JPS are traditionally treated by repeated endoscopic polypectomies and elective surgery. Recent studies reported up-regulation of cyclo-ossigenase 2 (COX-2) in colorectal polyps. Specific COX-2 inhibitors have been withdrown from the market for tromboembolic side effects. However efficacy and safety of preferential selective COX-2 inhibitor has been reported as antiinflammatory drugs also in children. In this patient meloxicam treatment, a preferential selective COX-2 inhibitor, leaded to a significant reduction in the number of colorectal polyps during 3 years follow up. PMID:19642502

  9. Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report.

    PubMed

    Rincón-Sánchez, Ana Rosa; Arce, Irma Elia; Tostado-Rabago, Enrique Alejandro; Vargas, Alberto; Padilla-Gómez, Luis Alfredo; Bolaños, Alejandro; Barrios-Guyot, Selenne; Anguiano-Alvarez, Víctor Manuel; Ledezma-Rodríguez, Víctor Chistian; Islas-Carbajal, María Cristina; Rivas-Estilla, Ana María; Feria-Velasco, Alfredo; Dávalos, Nory Omayra

    2012-01-01

    Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or 'human dermatosparaxis' is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria) with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria). Dermatosparaxis (meaning 'tearing of skin'), which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts. We describe a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities. PMID:22787447

  10. Sensory Guillain-Barré syndrome: A case report

    PubMed Central

    ZHANG, JING; LIU, NA; ZHANG, ZHE-CHENG; ZHENG, RUI-ZHI; LI, QIAN

    2014-01-01

    A 58-year-old female exhibited the onset of symmetrical sensory abnormalities of the face and extremities. The neurological examination revealed normal muscle strength with abated or absent tendon reflexes. The patient experienced symmetrical glove- and stocking-type pinprick sensations in the distal extremities and a loss of temperature sensation, but had normal proprioception and vibration senses and joint topesthesia. The lumbar puncture showed protein cell separation at the fifth week after the onset of symptoms. At the same time-point, the electrophysiological examination showed demyelination changes involving the trigeminal nerve and the somatic motor nerve. Needle electromyography revealed normal results. The clinical symptoms ceased progression at the fourth week after symptom onset, and began to improve from the sixth. This case was considered to be sensory Guillain-Barré syndrome, which was characterized by its cranial nerve involvement. PMID:25371720

  11. Milwaukee shoulder syndrome associated with pigmented villonodular synovitis. Case report.

    PubMed

    Popov, Horatiu I; Gherman, Claudia; Rogojan, Liliana; Botar-Jid, Carolina; Barna, Cristina; Fodor, Daniela

    2012-03-01

    Milwaukee shoulder syndrome (MSS) describes a destructive shoulder arthropathy associated with of calcium hydroxyapatite and calcium pyrophosphate dihydrate crystals deposition found mainly in elderly women. Pigmented villonodular synovitis (PVNS) is a benign proliferative disorder of the synovium usually seen in young adults, found frequently in the knee joint. We present the case of a 63 year old Caucasian woman admitted for severe swelling of the left shoulder and mild pain, with 10 years history. Clinical signs, laboratory tests, imaging studies, and histopathological examinations established the diagnosis of MSS associated with PVNS. Surgical partial synoviectomy followed by radiotherapy (total dose 36 Gy) was considered with local improvement. This is the first report in literature about this association. PMID:22396943

  12. CASE REPORT OF IRRITABLE BOWEL SYNDROME RESPONDING TO OMALIZUMAB.

    PubMed

    Magen, E; Chikovani, T

    2015-06-01

    Irritable bowel syndrome (IBS) is the most commonly diagnosed gastrointestinal condition manifested by chronic abdominal pain and altered bowel habits in the absence of any organic cause. While 10% - 20% of the population has IBS, only ? 25% of patients with IBS seek professional health care. Due to IBS multifactorial etiology, there is no single therapeutic option available with a satisfactory efficacy; therefore, patients frequently express a high level of frustration with their current therapies. We present a case of the 42 year-old woman with IBS, who was administered Omalizumab (a recombinant DNA-derived humanized IgG1 monoclonal antibody which specifically binds to free human immunoglobulin E (IgE) in the blood) doe to concomitant antihistamine resistant chronic spontaneous urticaria and experienced significant improvement in overall IBS symptoms. If our observation will be confirmed in prospective randomized studies, Omalizumab may turn out to be a useful pharmacological tool for this common disorder. PMID:26087729

  13. [A case of hypereosinophilic syndrome exhibiting left ventricular systolic dysfunction].

    PubMed

    Aida, A; Horimoto, M

    1992-11-01

    A 16-year-old woman suffering from bronchial asthma since 2 years previously was admitted to the hospital because of high grade fever, dyspnea, skin eruption and arthralgia. Laboratory data revealed pronounced eosinophilia with elevated immunoglobulin E value. A chest X-ray film showed cardiomegaly with pulmonary congestion. Left ventriculograms showed diffusely reduced motion of the left ventricle (LV). Various clinical symptoms and laboratory data were resolved shortly after the administration of corticosteroids, but the LV dysfunction persisted for at least three months. Left ventriculograms 2 years later disclosed a marked improvement of the LV wall motion. In both the acute and the chronic phase, endomyocardial biopsy of both ventricles revealed non-specific histological findings comprising disarrangement of myocytes and interstitial fibrosis, suggesting post-myocarditis. This case was characterized by LV dysfunction possibly due to eosinophilic myocarditis associated with hypereosinophilic syndrome, and by its functional improvement with long-term corticosteroid therapy. PMID:1439277

  14. Naturalistic Intervention for Asperger Syndrome: A Case Study

    ERIC Educational Resources Information Center

    Choi, Serene Hyun-Jin; Nieminen, Timo A.

    2008-01-01

    On the basis of their cognitive abilities, children with Asperger syndrome are attractive candidates for inclusive education and, in Australia, most are in integrated settings. However, social interaction between children with Asperger syndrome and their peers remains problematic, with the children with Asperger syndrome often being left alone…

  15. The concept and nosology of Heller's syndrome: review of articles and report of two cases.

    PubMed

    Kurita, H

    1988-12-01

    Based on a review of 60 historical cases of dementia infantilis and its synonyms (i.e., Heller's disease, Heller's dementia, Heller's syndrome and disintegrative psychosis) and a report of 2 new cases, the concept and nosology of Heller's syndrome, the most appropriate generic name for such conditions, were studied. In the age of onset, sex ratio, symptoms and a favorable prognosis in terms of life, a group of etiologically diverse conditions called Heller's syndrome differs from adult dementias and appears classifiable in pervasive developmental disorders according to DSM-III or DSM-III-R, even though its validity as a clinical syndrome remains to be studied. PMID:3074209

  16. Bariatric Surgery in Hypothalamic Obesity

    PubMed Central

    Bingham, Nathan C.; Rose, Susan R.; Inge, Thomas H.

    2012-01-01

    Craniopharyngiomas (CP) are epithelial neoplasms generally found in the area of the pituitary and hypothalamus. Despite benign histology, these tumors and/or their treatment often result in significant, debilitating disorders of endocrine, neurological, behavioral, and metabolic systems. Severe obesity is observed in a high percentage of patients with CP resulting in significant comorbidities and negatively impacting quality of life. Obesity occurs as a result of hypothalamic damage and disruption of normal homeostatic mechanisms regulating energy balance. Such pathological weight gain, termed hypothalamic obesity (HyOb), is often severe and refractory to therapy. Unfortunately, neither lifestyle intervention nor pharmacotherapy has proven effective in the treatment of HyOb. Given the limited choices and poor results of these treatments, several groups have examined bariatric surgery as a treatment alternative for patients with CP–HyOb. While a large body of evidence exists supporting the use of bariatric surgery in the treatment of exogenous obesity and its comorbidities, its role in the treatment of HyOb has yet to be defined. To date, the existing literature on bariatric surgery in CP–HyOb is largely limited to case reports and series with short term follow-up. Here we review the current reports on the use of bariatric surgery in the treatment of CP–HyOb. We also compare these results to those reported for other populations of HyOb, including Prader–Willi Syndrome, Bardet–Biedl syndrome, and hypothalamic melanocortin signaling defects. While initial reports of bariatric surgery in CP–HyOb are promising, their limited scope makes it difficult to draw any substantial conclusions as to the long term safety and efficacy of bariatric surgery in CP–HyOb. There continues to be a need for more robust, controlled, prospective studies with long term follow-up in order to better define the role of bariatric surgery in the treatment of HyOb. PMID:22649412

  17. Bow hunter's syndrome revisited: 2 new cases and literature review of 124 cases.

    PubMed

    Jost, Gregory F; Dailey, Andrew T

    2015-04-01

    Rotational occlusion of the vertebral artery (VA), or bow hunter's syndrome, is a rare yet surgically treatable cause of vertebrobasilar insufficiency. The underlying pathology is dynamic stenosis of the VA by osteophytes, fibrous bands, or lateral disc herniation with neck rotation or extension. The authors present 2 previously unreported cases of bow hunter's syndrome and summarize 124 cases identified in a literature review. Both patients in the new cases were treated by VA decompression and fusion of the subaxial spine. Each had > 50% occlusion of the left VA at the point of entry into the transverse foramen with a contralateral VA that ended in the posterior inferior cerebellar artery. Analyzing data from 126 cases (the 2 new cases in addition to the previously published 124), the authors report that stenosis was noted within V1 in 4% of cases, in V2 in 58%, in V3 in 36%, and distal to C-1 in 2%. Patients presented in the 5th to 7th decade of life and were more often male than female. The stenotic area was decompressed in 85 (73%) of the 116 patients for whom the type of treatment was reported (V1, 4 [80%] of 5; V2, 52 [83%] of 63; V3/V4, 29 [60%] of 48). Less commonly, fusion or combined decompression and fusion was used (V2, 7 [11%] of 63; V3/V4, 14 [29%] of 48). Most patients reported complete resolution of symptoms. The authors conclude that patients with bow hunter's syndrome classically have an impaired collateral blood flow to the brainstem. This condition carries an excellent prognosis with decompression, fusion, or combined surgery, and individual patient characteristics should guide the choice of therapy. PMID:25828501

  18. Modeling to Predict Cases of Hantavirus Pulmonary Syndrome in Chile

    PubMed Central

    Nsoesie, Elaine O.; Mekaru, Sumiko R.; Ramakrishnan, Naren; Marathe, Madhav V.; Brownstein, John S.

    2014-01-01

    Background Hantavirus pulmonary syndrome (HPS) is a life threatening disease transmitted by the rodent Oligoryzomys longicaudatus in Chile. Hantavirus outbreaks are typically small and geographically confined. Several studies have estimated risk based on spatial and temporal distribution of cases in relation to climate and environmental variables, but few have considered climatological modeling of HPS incidence for monitoring and forecasting purposes. Methodology Monthly counts of confirmed HPS cases were obtained from the Chilean Ministry of Health for 2001–2012. There were an estimated 667 confirmed HPS cases. The data suggested a seasonal trend, which appeared to correlate with changes in climatological variables such as temperature, precipitation, and humidity. We considered several Auto Regressive Integrated Moving Average (ARIMA) time-series models and regression models with ARIMA errors with one or a combination of these climate variables as covariates. We adopted an information-theoretic approach to model ranking and selection. Data from 2001–2009 were used in fitting and data from January 2010 to December 2012 were used for one-step-ahead predictions. Results We focused on six models. In a baseline model, future HPS cases were forecasted from previous incidence; the other models included climate variables as covariates. The baseline model had a Corrected Akaike Information Criterion (AICc) of 444.98, and the top ranked model, which included precipitation, had an AICc of 437.62. Although the AICc of the top ranked model only provided a 1.65% improvement to the baseline AICc, the empirical support was 39 times stronger relative to the baseline model. Conclusions Instead of choosing a single model, we present a set of candidate models that can be used in modeling and forecasting confirmed HPS cases in Chile. The models can be improved by using data at the regional level and easily extended to other countries with seasonal incidence of HPS. PMID:24763320

  19. Anterior Plagiocephaly in an Atypical Case of Apert Syndrome

    PubMed Central

    Gupta, Madhumita; Pai, Ashwin Alke; Bhattacharya, Abhimanyu; Ramachandra, Ravi; Sawarappa, Raghavendra; Mohapatra, Subhakanta; Kanoi, Aditya

    2013-01-01

    Apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. We present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. However, type I apert hand and other clinical and radiological features suggestthe diagnosis. Genetic analysis revealed an absence of the specific missense mutations in the FGFR 2 gene that is found in patients with this syndrome. We conclude that this patient represented a rare atypical variant of Apert syndrome. Further analysis is required to map the associated genotype. PMID:25489515

  20. A case of cochlear implantation in a patient with Epstein syndrome.

    PubMed

    Nabekura, Takashi; Nagano, Yuki; Matsuda, Keiji; Tono, Tetsuya

    2015-04-01

    Epstein syndrome is a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and sensorineural hearing loss. It is included among four overlapping syndromes, the others being May-Hegglin anomaly, Fechtner syndrome, and Sebastian syndrome. It is now established that all four disorders are caused by mutations in the MYH9 gene. We report the case of a patient with Epstein syndrome in whom bilateral profound hearing impairment developed and cochlear implantation was carried out. A cochlear implant was successfully used with a speech discrimination score of 100% on a Japanese sentence recognition test. This report offers the second description of the performance of a cochlear implant in a patient with Epstein syndrome. This case study may offer hope for patients and their family members with this kind of mutation. PMID:25293679

  1. Chikungunya virus infection amongst the acute encephalitis syndrome cases in West Bengal, India.

    PubMed

    Taraphdar, D; Roy, B K; Chatterjee, S

    2015-02-01

    Chikungunya virus (CHIKV) infection from the acute encephalitis syndrome cases is an uncommon form and has been observed in the year 2010-11 from West Bengal, India. The case-1 and case-2 had the acute encephalitis syndrome; case-3 was of acute disseminated encephalomyelitis whereas the case-4 had the symptoms of meningo-encephalopathy with bulbar involvement. We are reporting four cases with neurological complications involving central nervous system (CNS) due to CHIKV infection from this state for the first time. The virus has spread almost every districts of this state rapidly. At this stage, these cases are public health threat. PMID:25657139

  2. Pathological gambling plus hypersexuality in restless legs syndrome: a new case

    Microsoft Academic Search

    Giuseppe d’Orsi; Vincenzo Demaio; L. M. Specchio

    2011-01-01

    Emerging clinical data indicate that dopaminergic agonists used to treat restless legs syndrome may be associated with dopamine\\u000a dysregulation syndrome, particularly pathological gambling. We report a new case with pathological gambling plus hypersexuality\\u000a and impotence in an old patient treated with a small dose (0.18 mg daily at bedtime) of pramipexole for restless legs syndrome\\u000a for 5 months. The time relationship and

  3. Systemic capillary leak syndrome under general anesthesia: a case report

    PubMed Central

    Kim, Young-Ki; Kim, Se-Hun; Lee, Chang-Hee; Kim, Jin-Sun

    2014-01-01

    Systemic capillary leak syndrome (SCLS) is very rare and lethal disease and only 150 cases have been reported after the first publication of its report in 1960 by Clarkson. SCLS is characterized by hemoconcentation and hypoalbuminemia caused by reversible plasma extravasation. Its mechanism is unknown, but transient dysfunction of the endothelium is the most suspected cause and trigger of this event may cause immunologic disarrangement. After recovery of endothelial function, fluid injected during the shock period is redistributed and can cause severe pulmonary edema. SCLS should be considered in patients with acute and severe hypotension with hemoconcentration and hypoalbuminemia without obvious cardiac dysfunction. Especially we should take into account the possibility of SCLS if fluid replacement does not work or the shock state is aggravated despite aggressive fluid resuscitation and vasopressor administration. SCLS itself is a very rare disease; furthermore, SCLS that develops during well-controlled surgery is even more rare. So we report this case with review of the literature. PMID:25006371

  4. [Sjogren-Larsson syndrome. Apropos of a case].

    PubMed

    Bonafé, J L; Peyraga, C; Lafitte, J M; Salvayre, R; Rochiccioli, P

    1987-01-01

    Sjögren-Larsson syndrome is a rare genodermatosis described by Sjögren and Larsson in 1957 (28) and characterized by ichthyosis, spastic di- or tetraplegia and oligophrenia. In the case reported here a female child, born to consanguineous parents, presented at birth as a "collodion baby". Progressively, she developed an ichthyosiform and erythrodermic state and at the same time, after an episode of seizures, spasticity of the lower limbs set in. From then on, her acquisitions were very slow. Symptomatic treatment with retinoids (etretinate, 13-cisretinoid, etretinate again) was attempted repeatedly, but it only resulted in temporary improvement of the ichthyosiform state. Overall evaluation at the age of 6 years showed: i) persistence of the ichthyosiform and erythrodermic state; ii) growth retardation (-2 in stature); iii) spasticity of the lower limbs with difficulty in walking, and beginning of speech. Routine examinations gave normal results. Serum linoleic acid level was within normal limits. Electroencephalography displayed immaturity tracings without signs of epilepsy. Radiography of the skull was normal, and in particular there was no thickening of the sphenoid bone. Histological examination of the skin, outside or during treatment with retinoids, showed ortho- and parakeratosic hyperkeratosis, absence of granular layer, moderate hyperacanthosis, vacuolization of numerous acanthocytes in the uppermost layers and inflammatory infiltrates in the superficial dermis. All these abnormalities were confirmed by electron microscopy. Previously published series are reviewed. In most cases the patient is a "collodion baby" at birth and progressively develops ichthyosis, spasticity, psychomotor and growth retardation.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:3322144

  5. Trichobezoar causing pancreatitis: first reported case of Rapunzel syndrome in a boy in North America.

    PubMed

    Kohler, Jonathan E; Millie, Michael; Neuger, Elizabeth

    2012-03-01

    Trichobezoar is a mass of hair retained in the stomach, usually associated with trichotillomania. Large trichobezoars may extend into the small bowel and cause small bowel obstruction or pancreatic dysfunction, a condition known as Rapunzel syndrome. Here we report the first North American case of Rapunzel syndrome in a male patient. PMID:22424371

  6. Case-control study of sudden infant death syndrome in Lithuania, 1997–2000

    Microsoft Academic Search

    Vilija Bubnaitien?; Ramun? Kal?dien?; Rimantas K?valas

    2005-01-01

    BACKGROUND: To identify risk factors for sudden infant death syndrome relevant in Lithuania. METHODS: A nationwide case-control study surveying parents of 35 infants who died from sudden infant death syndrome during the period of 1997–2000 and parents of 145 control infants matched with SIDS infants for date of birth and for region of birth was carried out. RESULTS: Deaths incidence

  7. Intraocular pathology of trisomy 18 (Edwards's syndrome): report of a case and review of the literature.

    PubMed Central

    Calderone, J P; Chess, J; Borodic, G; Albert, D M

    1983-01-01

    The ophthalmic histopathology is detailed in a case of trisomy 18 (Edwards's syndrome). In addition to the ocular pathology already reported, previously unreported findings of iris stromal hypoplasia, abnormal lens shape, and decreased ganglion cells in the retina are noted. The ophthalmic histopathology associated with this syndrome and the relationship of several genetic disorders to their ocular manifestations are discussed. Images PMID:6824623

  8. A case of Takayasu disease with findings of incomplete Alagille syndrome

    Microsoft Academic Search

    Salih Kavukçu; Korcan Demir; Alper Soylu; Özden Anal; Osman Saatçi; Yi?it Göktay

    2005-01-01

    A 16-year-old girl being followed up for Takayasu arteritis for the last 3 years was also found to have Alagille syndrome upon findings of atypical facies, posterior embryotoxon, high-pitched voice, osteopenia and hypogonadism. This case might imply a possible relationship between Takayasu arteritis and Alagille syndrome.

  9. Carpal Tunnel Syndrome: A Nested Case-Control Study of Risk Factors in Women

    Microsoft Academic Search

    Susan Ferry; Philip Hannaford; Maria Warskyj; Martyn Lewis; Peter Croft

    Risk factors for the development of carpal tunnel syndrome in women were studied by means of a nested case-control analysis of a prospective cohort study of the health effects of oral contraception in British women. A total of 1,264 women who had a diagnosis of carpal tunnel syndrome reported by their general practitioner between 1968 and 1993 were compared with

  10. Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome

    PubMed Central

    Sanjeev, Rama Krishna; Kapoor, Seema; Goyal, Manisha; Kapur, Rajiv; Gleeson, Joseph Gerard

    2015-01-01

    We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement. Mutation analysis revealed compound heterozygous missense mutation in the known gene TMEM67 (also called MKS3).

  11. Transjugular renal biopsy in a case of nephrotic syndrome with extrahepatic portal venous obstruction.

    PubMed

    Siddiqi, N; Someshwar, V; Roy, D; Anandh, U

    2013-03-01

    Renal biopsy in patients with nephrotic syndrome helps to establish the pathological diagnosis and subsequent treatment. In certain circumstances, biopsies are difficult to obtain because of the risk of bleeding. We report a case where renal biopsy was obtained through the transjugular route in a patient who had nephrotic syndrome with extrahepatic portal venous obstruction. PMID:23716925

  12. Transjugular renal biopsy in a case of nephrotic syndrome with extrahepatic portal venous obstruction

    PubMed Central

    Siddiqi, N.; Someshwar, V.; Roy, D.; Anandh, U.

    2013-01-01

    Renal biopsy in patients with nephrotic syndrome helps to establish the pathological diagnosis and subsequent treatment. In certain circumstances, biopsies are difficult to obtain because of the risk of bleeding. We report a case where renal biopsy was obtained through the transjugular route in a patient who had nephrotic syndrome with extrahepatic portal venous obstruction. PMID:23716925

  13. Familial gigantiform cementoma with Ehlers - Danlos syndrome: A report of 2 cases

    PubMed Central

    2015-01-01

    Ehlers-Danlos syndrome is an autosomal dominant hereditary disorder of connective tissue, while familial gigantiform cementoma is a condition that usually manifests as multiple radiopaque cementum-like masses throughout the jaws. This case report discusses the oral management and prosthetic rehabilitation of two patients presenting familial gigantiform cementoma with Ehlers-Danlos Syndrome. PMID:25932318

  14. Congenital diaphragmatic hernia in a case of patau syndrome: a rare association.

    PubMed

    A, Jain; P, Kumar; A, Jindal; Yk, Sarin

    2015-01-01

    Congenital diaphragmatic hernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions.. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities. PMID:26034714

  15. The melkersson - rosenthal syndrome as a rare cause of facial nerve palsy - a case report.

    PubMed

    Hathiram, B T; Grewal, D S; Walvekar, R; Dwivedi, A; Kumar, L; Mohorikar, A

    2000-10-01

    The Melkenson Rosenthal syndrome is the rarely encountered triad of intermittent facial paralysis, recurrent facial oedema and lingua plicata. The intervals between the recurrence of symptoms may vary in duration. The cause of this syndrome is yet unknown. This paper discuses the pathology, clinical features and management as well as reports a case of this unusual disorder. PMID:23119729

  16. The Miller-Dieker syndrome: a case report and review of the literature.

    PubMed

    Izmeth, M G; Parameshwar, E

    1989-06-01

    A case of Miller-Dieker syndrome is reported. A 6-month-old baby girl has the characteristics of the syndrome. Post natal growth deficiency: microcephaly, profound mental retardation. Craniofacial defects: micrognathia, ear abnormalities, anteverted nares, wrinkling of forehead, bitemporal growing of high forehead. Neurological abnormalities: opisthotonos, epilepsy, initial hypotonia. The literature is reviewed. PMID:2666671

  17. Congenital Diaphragmatic Hernia in a Case of Patau Syndrome: A Rare Association

    PubMed Central

    A, Jain; P, Kumar; A, Jindal; Yk, Sarin

    2015-01-01

    Congenital diaphragmatic hernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions.. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities.

  18. Manifestations, Treatment Implications and Speech-Language Consideration in Gorlin Syndrome: A Case Study.

    ERIC Educational Resources Information Center

    Andrews, Alice E.; Stonestreet, Ruth H.

    This paper presents a case study of Gorlin Syndrome, also known as Basal Cell Nevus Syndrome, a rare genetic disorder characterized by widespread developmental defects. Criteria for diagnosis are listed, noting the presence of frequent basal cell carcinomas at a relatively young age and multiple cysts of the jaw. Speech and/or language impairments…

  19. Autoimmune polyglandular syndrome type II - a case report.

    PubMed

    Azad, A K; Islam, M S; Quayum, S L

    2015-01-01

    Autoimmune polyglandular syndrome also known as autoimmune polyendocrine syndrome (APS) type II is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type I diabetes mellitus. Here a 14 year old girl is reported with Addison's disease, autoimmune hypothyroidism and primary hypogonadism. Autoimmune polyendocrine syndrome (APS) type II occurs most often in middle aged female and is quite rare in children but one should think to autoimmune polyglandular syndrome type II in patient at any age especially in patients with Addison's disease. PMID:25725692

  20. Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion.

    PubMed Central

    Long, W. S.; Seashore, M. R.; Siegel, N. J.; Bia, M. J.

    1990-01-01

    Fanconi syndrome is a complex of renal tubular dysfunctions defined by glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis. It is often associated with hypokalemia, hypophosphatemia, and rickets or osteomalacia. Although it is usually found in the setting of other well-established non-renal diseases, Fanconi syndrome may present without identifiable etiology or association. Very infrequently a patient with idiopathic Fanconi syndrome will progress to chronic renal failure. This case report details the course of such a patient over the 20 years since his diagnosis and discusses the syndrome's genetic background, clinical features, putative pathophysiology, and therapeutic options, including transplantation. PMID:2356624

  1. Cotard's syndrome: Two case reports and a brief review of literature.

    PubMed

    Grover, Sandeep; Aneja, Jitender; Mahajan, Sonali; Varma, Sannidhya

    2014-11-01

    Cotard's syndrome is a rare neuropsychiatric condition in which the patient denies existence of one's own body to the extent of delusions of immortality. One of the consequences of Cotard's syndrome is self-starvation because of negation of existence of self. Although Cotard's syndrome has been reported to be associated with various organic conditions and other forms of psychopathology, it is less often reported to be seen in patients with catatonia. In this report we present two cases of Cotard's syndrome, both of whom had associated self-starvation and nutritional deficiencies and one of whom had associated catatonia. PMID:25540544

  2. A swollen hand with blisters: a case of compartment syndrome in a child.

    PubMed

    Rios-Alba, Tonatiuh; Ahn, James

    2015-06-01

    The accurate identification of compartment syndrome in the emergency department is essential to timely treatment and prevention of long-term sequela. Recognizing compartment syndrome is not straightforward, especially in the pediatric population. In addition to communication barriers that exist with children, the classic signs of pain, pallor, paresthesia, paralysis, and pulselessness are not always present, making its diagnosis a challenge. We report a case of a child with compartment syndrome to the left hand due to compression from an ACE wrap. The existing literature on compartment syndrome in children is reviewed. PMID:26035497

  3. Fatal fat embolism syndrome in a case of isolated L1 vertebral fracture-dislocation.

    PubMed

    Yamauchi, Koun; Fushimi, Kazunari; Ikeda, Tsuneko; Fukuta, Masashi

    2013-11-01

    Although fat embolism syndrome is a well-known complication of fractures of the long bones or pelvis, fat embolism syndrome occurring subsequent to fracture of the lumbar spine is rare. We report a fatal case of fat embolism syndrome characterized by fat and bone marrow embolism that occurred 36 h after an isolated fracture-dislocation of the L1 vertebra. A postmortem examination was performed and pathological finding demonstrated fat and bone marrow tissue which were disseminated in the bilateral pulmonary arteries. We need to be aware of the possibility of fat embolism syndrome as a complication of spinal fractures, including isolated vertebral body fractures. PMID:23412313

  4. Bobble head doll syndrome: A rare case report

    PubMed Central

    Reddy, Onteddoo Joji; Gafoor, Jamkhana Abdul; Suresh, Balla; Prasad, P. Obuleswar

    2014-01-01

    Bobble – head syndrome (BHDS) is a complex and rare syndrome with repetitive anteroposterior head movements. It is usually associated with expansile lesions in the third ventricular region. We present a 9 year old child with a giant suprasellar arachnoid cyst causing involuntary head movements. PMID:25250081

  5. Bobble head doll syndrome: A rare case report.

    PubMed

    Reddy, Onteddoo Joji; Gafoor, Jamkhana Abdul; Suresh, Balla; Prasad, P Obuleswar

    2014-05-01

    Bobble - head syndrome (BHDS) is a complex and rare syndrome with repetitive anteroposterior head movements. It is usually associated with expansile lesions in the third ventricular region. We present a 9 year old child with a giant suprasellar arachnoid cyst causing involuntary head movements. PMID:25250081

  6. Asperger's Syndrome and Recurrent Psychosis--A Case Study.

    ERIC Educational Resources Information Center

    Gillberg, Christopher

    1985-01-01

    A 14-year-old with mild mental retardation and behavioral features suggestive of Asperger's syndrome is described. At the onset of puberty lethargic episodes took on a more dramatic form and became more reminiscent of cycloid/manic-depressive psychosis. Neurobiological links with and differences from the syndrome of infantile autism were found.…

  7. Measles mimicking HIV seroconversion syndrome: a case report

    PubMed Central

    2010-01-01

    Introduction Measles is on the rise in the United Kingdom and must be considered in the differential diagnosis of any patient presenting with fever and rash. As a highly infectious disease, identified patients must be isolated in the hospital setting. Case presentation A 28-year-old Polish woman presented ill to the accident and emergency department of a district general hospital. She had painful genital ulceration, oral soreness, fever, and a facial rash. She became hypoxic within 24 hours of presentation and began to tire, thus requiring noninvasive ventilation. Her respiratory symptoms were out of proportion to the findings of her chest radiograph, which remained virtually normal. Human immunodeficiency virus seroconversion syndrome complicated by Pneumocystis carinii pneumonia was high among the differential diagnoses. She was given cotrimoxazole, high-dose steroids, broad spectrum antibiotics, and anti fungal cover. Human immunodeficiency virus polymerase chain reaction came back as negative and her symptoms resolved within 10 days of presentation. She was taken off all treatment and discharged home feeling well. Serological measles was confirmed as part of a viral screen, but its clinical suspicion was low. Conclusion The presentation of measles in this patient was unique and atypical. With its incidence rising in the United Kingdom, measles must be increasingly considered as a differential diagnosis in patients presenting with fever and rash. PMID:20181109

  8. [An autopsy case of HELLP syndrome with disseminated aspergillosis].

    PubMed

    Kobayashi, M; Ito, M; Hotchi, M

    2000-01-01

    Disseminated aspergillosis is an uncommon and unpredictable complication in severely immunocompromised patients and poses a challenging problem in the management and care of seriously ill patients receiving intensive care therapy. We report an autopsied case of disseminated aspergillosis occurring ina 31-year-old female patient who was treated for HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome. She initially presented with edema and proteinuria at a pregnancy check-up. At gestational age 33 weeks and 2 days, she had right lower abdominal pain, nausea, and jaundice. The next day she delivered a male neonate transvaginally, followed by excessive postpartum uterine bleeding. Although an emergency hysterectomy was performed, her hemorrhagic diathesis could not be controlled even after transcatheter embolization of the internal iliac arteries with subsequent ligation and repeated blood transfusions totalling to 31,070 ml. She eventually died of a cerebral hemorrhage 21 days after the parturition. Autopsy showed generalized jaundice and petechiae, as well as extensive hemorrhage observed in the abdominal wall, peritoneal cavity, and retroperitoneal and pelvic spaces. In addition,there were multifocal hemorrhages found in the left temporal, right frontal and posterior lobes of the cerebrum, and pons. Disseminated aspergillosis was found in the lungs, trachea, brain, esophagus, stomach, heart, and thyroid gland. These findings suggest that systemic postoperative complications, associated with massive blood transfusions and hepatic failure, mutually contribute to the overall deterioration of host defense mechanism, and may underlie the occurrence of devastating systemic fungal infection. PMID:10777821

  9. Mumps caused hemophagocytic syndrome: a rare case report.

    PubMed

    Xing, Quqntai; Xing, Peixiang

    2013-06-01

    Mumps-associated hemophagocytic syndrome (HPS) is exceptionally rare. Here, we report a fatal case of concurrent mumps and HPS. A previously healthy 21-year-old male patient was admitted to the Department of Infectious Diseases on October 18, 2011,with complaints of parotid gland pain for 30 days and persistent fever (38.3°C-40°C) for 15 days. Admission examinations showed severe pancytopenia, liver dysfunction, hyperferritinemia, fibrinopenia, elevated lactalase dehydrase, bilateral pulmonary inflammation and pleural effusion, abdominal lymphadenopathy, and splenomegaly. The patient was accordingly suspected to have mumps-associated HPS and received nutrition support and hormonal therapies as well as platelet transfusions. On hospitalization day 3, the fever stayed high, and painful swelling in the right testicle was reported. A bone marrow biopsy evaluation and serological tests were then performed. Histiocytic hyperplasia and hemophagocytic macrophage infiltration were demonstrated in the bone marrow and antimumps virus immunoglobulin M was detected positive, but bacteria, Epstein-Barr virus, cytomegalovirus, and herpes simplex virus were detected negative in the peripheral blood. The initial diagnosis of mumps-associated HPS was eventually confirmed. Treatments with high doses of methylprednisolone, intravenous immunoglobulin, and etoposide were continued. By hospitalization day 20, patient's condition was improved, his body temperature and blood counts were almost normal, and the pain and swelling in his parotid glands and right testicle subsided considerably. On hospitalization day 28, however, patient's condition deteriorated rapidly, and pancytopenia became evident again. On hospitalization day 33, the patient died of multiple organ dysfunction. PMID:23478118

  10. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

    PubMed Central

    Hannibal, Mark C.; Buckingham, Kati J.; Ng, Sarah B.; Ming, Jeffrey E.; Beck, Anita E.; McMillin, Margaret J.; Gildersleeve, Heidi I.; Bigham, Abigail W.; Tabor, Holly K.; Mefford, Heather C.; Cook, Joseph; Yoshiura, Koh-ichiro; Matsumoto, Tadashi; Matsumoto, Naomichi; Miyake, Noriko; Tonoki, Hidefumi; Naritomi, Kenji; Kaname, Tadashi; Nagai, Toshiro; Ohashi, Hirofumi; Kurosawa, Kenji; Hou, Jia-Wei; Ohta, Tohru; Liang, Deshung; Sudo, Akira; Morris, Colleen A.; Banka, Siddharth; Black, Graeme C.; Clayton-Smith, Jill; Nickerson, Deborah A.; Zackai, Elaine H.; Shaikh, Tamim H.; Donnai, Dian; Niikawa, Norio; Shendure, Jay; Bamshad, Michael J.

    2011-01-01

    Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the reported cases with Kabuki syndrome, but parent-to-child transmission in more than a half-dozen instances indicates that it is an autosomal dominant disorder. We recently reported that Kabuki syndrome is caused by mutations in MLL2, a gene that encodes a Trithorax-group histone methyltransferase, a protein important in the epigenetic control of active chromatin states. Here, we report on the screening of 110 families with Kabuki syndrome. MLL2 mutations were found in 81/110 (74%) of families. In simplex cases for which DNA was available from both parents, 25 mutations were confirmed to be de novo, while a transmitted MLL2 mutation was found in two of three familial cases. The majority of variants found to cause Kabuki syndrome were novel nonsense or frameshift mutations that are predicted to result in haploinsufficiency. The clinical characteristics of MLL2 mutation-positive cases did not differ significantly from MLL2 mutation-negative cases with the exception that renal anomalies were more common in MLL2 mutation-positive cases. These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome. PMID:21671394

  11. Thyroid dysfunction during severe ovarian hyperstimulation syndrome. A case report.

    PubMed

    Skweres, Tomasz; Wójcik, Dariusz; Ciep?uch, Rafa?; Sliwi?ski, Wojciech; Czech, Robert; Gruszczy?ski, Wojciech; Rogacki, Maciej

    2014-06-01

    Thyroid disorders, both in women who wish to conceive and in gravidas, has become a topic of much interest to numerous researchers. Ovarian hyperstimulation syndrome (OHSS) is a potentially life-threatening condition among women undergoing controlled ovarian hyperstimulation (COH). We present a case of thyroid dysfunction in severe OHSS in a patient diagnosed with subclinical hypothyroidism before COH. The dose of L-thyroxine (L-T4) was increased before the procedure in order to reach TSH levels below 2.5 mU/L, and from day 1 of the stimulation the dose of L-T4 was increased by 33%. The patient remained clinically and biochemically euthyroid until day 8 after the embriotransfer (ET). Then, the woman developed severe OHSS, with fluid in the pleural and peritoneal cavity and laboratory evidence of severe OHSS. Laboratory thyroid function tests revealed overt hypothyroidism. L-T4 dose was not increased due to serious clinical condition of the patient. Iodine supplementation was initiated instead. After the symptoms subsided, a period of clinical and laboratory euthyroid state was observed, followed by gestational hyperthyroidism. The L-T4 dose was reduced and iodine supplementation was temporarily ceased. The thyroid function stabilized, while maintaining the L-T4 and iodine supplementation, at 20 weeks of gestation. The patient gave birth by a caesarean section at 37 weeks of gestation and returned to the pre-pregnancy dose of L-T4. To the best of our knowledge, this has been the first report about a patient with thyroid dysfunction in severe OHSS in the Polish literature. On the basis of the presented case and a review of the literature on thyroid dysfunction in women undergoing COH and OHSS, we conclude that clinical signs and biochemical parameters need to be taken into consideration while making therapeutic decision in women with thyroid dysfunction in the course of OHSS. Also, further studies are necessary to elucidate the matter. PMID:25029815

  12. Venous sinus thrombosis in a child with nephrotic syndrome: a case report and literature review

    PubMed Central

    Torres, Ronaldo Afonso; Torres, Bruna Ribeiro; de Castilho, Alessandra Soares Rocha; Honorato, Ronaldo

    2014-01-01

    Nephrotic syndrome is associated with a hypercoagulable state and an increased risk of thromboembolic complications. Cerebral venous sinus thrombosis is a rare complication of nephrotic syndrome, with few cases described in the literature, although the disease may be under-diagnosis. The true incidence of cerebral venous sinus thrombosis may be underestimated because many events are asymptomatic or are not diagnosed in time. Here, we describe the case of a male child, 2 years and 10 months old, with nephrotic syndrome presenting with headache, epileptic seizures and sensory inhibition who was diagnosed with superior sagittal and transverse sinuses thrombosis. An international literature review was performed with a defined search strategy in the PubMed, SciELO and Lilacs databases using the terms ‘nephrotic syndrome’ and ‘cerebral sinovenous thrombosis’. The diagnosis of venous thrombosis should be considered in any patient with nephrotic syndrome who presents with neurological signs and symptoms, as early clinical diagnosis promotes favorable outcomes. PMID:25607275

  13. Venous sinus thrombosis in a child with nephrotic syndrome: a case report and literature review.

    PubMed

    Torres, Ronaldo Afonso; Torres, Bruna Ribeiro; de Castilho, Alessandra Soares Rocha; Honorato, Ronaldo

    2014-01-01

    Nephrotic syndrome is associated with a hypercoagulable state and an increased risk of thromboembolic complications. Cerebral venous sinus thrombosis is a rare complication of nephrotic syndrome, with few cases described in the literature, although the disease may be under-diagnosis. The true incidence of cerebral venous sinus thrombosis may be underestimated because many events are asymptomatic or are not diagnosed in time. Here, we describe the case of a male child, 2 years and 10 months old, with nephrotic syndrome presenting with headache, epileptic seizures and sensory inhibition who was diagnosed with superior sagittal and transverse sinuses thrombosis. An international literature review was performed with a defined search strategy in the PubMed, SciELO and Lilacs databases using the terms 'nephrotic syndrome' and 'cerebral sinovenous thrombosis'. The diagnosis of venous thrombosis should be considered in any patient with nephrotic syndrome who presents with neurological signs and symptoms, as early clinical diagnosis promotes favorable outcomes. PMID:25607275

  14. Two cases of Z syndrome with the Crystalens after uneventful cataract surgery.

    PubMed

    Yuen, Leonard; Trattler, William; Boxer Wachler, Brian S

    2008-11-01

    We report 2 cases of Z syndrome with the Crystalens AT50SE and AT52SE intraocular lenses (Eyeonics, Inc.) after uneventful cataract surgery. Both patients had subsequent neodymium:YAG laser capsulotomy treatment that remedied the complication. To our knowledge, these are the first reported cases of Z syndrome with the Crystalens AT50SE and AT52SE, a unique complication with this type of hinged accommodating intraocular lens. PMID:19006749

  15. Hypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report

    PubMed Central

    ASHRAFZADEH, Farah; GHAEMI, Nosrat; AKHONDIAN, Javad; BEIRAGHI TOOSI, Mehran; ELMI, Saghi

    2013-01-01

    Objective Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms include retinitis pigmentosa, chronic and progressive external ophthalmoplegia plus one or more of following factors: heart conduction system disorders, cerebellar ataxia, or cerebrospinal fluid (CSF) protein content above 100 mg/dL. The nature of this uncommon disease is yet to be clarified. In this paper, we report a case of Kearns-Sayre syndrome. According to the previous records, the first manifestation of Kearns- Sayre syndrome as hypoparathyroidism is uncommon and in this article, we report a case with this problem. PMID:24665319

  16. A case of Budd-Chiari syndrome associated with alveolar echinococcosis.

    PubMed

    Karadas, Sevdegul; Cumhur, Dulger Ahmet; Bilge, Gultepe; Mehmet, Beyazal; Mustafa, Kosem

    2014-04-01

    Alveolar echinococcosis of the liver is caused by the tapeworm Echinococcus multilocularis. Budd-Chiari Syndrome (BCS) is a hepatic venous outflow tract obstruction and involves abdominal pain, hepatomegaly and high-gradient ascites. A low-gradient ascites in connection with the syndrome rarely occurs in case of alveolar echinococcosis of the liver. Here we report a 20-year-old man with the syndrome and low-gradient ascites due to a huge liver mass. Further diagnostic examination revealed alveolar echinococcosis of the liver. Diuretic agents and albendazole were used as palliative therapy in the case. PMID:24864647

  17. Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report

    PubMed Central

    2013-01-01

    Introduction Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic Bartter syndrome, in our opinion the diagnoses of growth hormone deficiency has been unconvincing in some reports. Moreover, Gitelman syndrome seems to have been confused with Bartter syndrome in some cases in the literature. In the present work, we describe a new case with CLCNKB gene mutations and review the reported cases of classic Bartter syndrome associated with growth hormone deficiency. Case presentation Our patient was a Japanese boy diagnosed as having classic Bartter syndrome at eight months of age. The diagnosis of Bartter syndrome was confirmed by CLCNKB gene analysis, which revealed compound heterozygous mutations with deletion of exons 1 to 3 (derived from his mother) and ?L130 (derived from his father). His medical therapy consisted of potassium (K), sodium chloride, spironolactone, and anti-inflammatory agents; this regime was started at eight months of age. Our patient was very short (131.1cm, -4.9 standard deviation) at 14.3 years and showed profoundly impaired growth hormone responses to pharmacological stimulants: 0.15?g/L to insulin-induced hypoglycemia and 0.39?g/L to arginine. His growth response to growth hormone therapy was excellent. Conclusions The present case strengthens the association between classic Bartter syndrome and growth hormone deficiency. We propose that growth hormone status should be considered while treating children with classic Bartter syndrome. PMID:24377430

  18. Hypopituitarism masquerading as Prasad's syndrome: a case report.

    PubMed

    Demirel, Fatma; Aksu, Tekin; Esen, Ihsan; Yarali, Ne?e; Karakaya, Gülhan; Tunç, Bahattin

    2011-01-01

    Prasad's syndrome is characterized by geophagia, growth retardation, hypogonadism, and zinc deficiency. We report a 15-year-old boy whose medical history and clinical and laboratory findings were fully compatible with Prasad's syndrome. In addition to severe growth retardation and pubertal delay, iron deficiency anemia and zinc deficiency were determined. His gliadin and endomysium antibodies were negative. The thyroid hormone levels were in normal range but basal gonadotropins and testosterone levels were low for his age. Detailed endocrinological evaluation revealed growth hormone deficiency and hypogonadotropic hypogonadism. Pituitary gland magnetic resonance imaging revealed pituitary hypoplasia. In our opinion, before the diagnosis of Prasad's syndrome, endocrine evaluation should be done in these patients and hypopituitarism should be ruled out. Hypogonadotropic hypogonadism and growth hormone deficiency may be masked by Prasad's syndrome. PMID:22389997

  19. Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome).

    PubMed

    Rufo-Campos, Miguel; Riveros-Huckstadt, Pilar; RodrIguez-Criado, Germán; Hernández-Soto, RocIo

    2004-04-01

    We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris, hypertelorism, broad nasal bridge, long philtrum, micrognathia, triangular-shaped mouth and low posterior hairline, and also brachycephaly, calcified clinoid ligaments, and upper rib deformities. Although the severity of mental retardation within the syndrome varies, the reported case shows not only a severe degree, but also cerebral malformations not reported in any of the previous cases of cerebro-facio-thoracic syndrome. These include cortical-subcortical atrophy with hypoplasia of the corpus callosum, and of the cerebellar vermis. We also discuss the inheritance pattern and differential diagnosis, comparing this phenotype to other similar dysmorphic syndromes. PMID:15030912

  20. Nevoid basal cell carcinoma syndrome. A case report.

    PubMed

    Piattelli, A

    1991-12-01

    Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder and is characterized by a great variety of signs and symptoms. The most important are a characteristic facies, the occurrence of basal cell carcinomas and odontogenic keratocysts. In view of the neoplastic skin change, constant review of the patients is indicated. Any jaw film revealing two or more dentigerous or follicular cysts should alert the clinician to the possibility of this underlying syndrome. PMID:1822063

  1. Macrocephaly–capillary malformation syndrome: Three new cases

    Microsoft Academic Search

    Inusha Panigrahi; Mani Bhushan; Mukesh Yadav; Niranjan Khandelwal; Pratibha Singhi

    Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly–Capillary Malformation (M–CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and\\/or

  2. Asperger's syndrome and aberrant neurofunctional organization--a case report.

    PubMed

    Huang, Huei-Lin; Shieh, Yu-Lien; Wu, Hsiu-Jung; Chuang, Sheng-Fa; Yang, Pinchen; Jong, Yuh-Jyh

    2002-04-01

    Asperger's Syndrome(AS) is a severe developmental disorder characterized primarily by marked and sustained difficulties in social interaction and unusual patterns of circumscribed interests and behavioral peculiarities. AS differs from autism primarily in that there is no general delay or retardation in language. A 3. 5 year-old boy with AS was referred for psychological assessment and treatment. When the boy was 23 months old, he was assessed with Bayley Scales of Infant Development (2nd ed.). Both MDI and PDI were within normal limits. After the referral, this boy was assessed with WPPSI-R and then prescribed 5 weekly intervention sessions consisting of communication skills training. At a one week's follow-up the boy was reassessed with Leiter-R. The results of WPPSI-R and Leiter-R showed the boy was in the normal intelligence range. From the second session to the fifth session, the boy's mother recorded 526 of his utterances. According to the analysis of these speech data, the language development for this boy was at Stage V, which indicated that his language development was in the superior range for his age. After 5 intervention sessions, the improvements in the child's communication skills were such that no further sessions were warranted. This boy might represent a case of aberrant neurofunctional organization. He has defects in perceptual organization but has good pattern recognition, which is based on features. It is theorized that his excellent verbal ability competed with the perceptual organization, so that he compensated for perceptual organization with verbal ability. An intervention designed to inhibit verbal compensation and facilitate configural processing is recommended. PMID:12164013

  3. Drug reaction with eosinophilia and systemic symptoms syndrome (DRESS) syndrome associated with azithromycin presenting like septic shock: a case report

    PubMed Central

    2014-01-01

    Introduction Drug reaction with eosinophilia and systemic symptoms syndrome is a potentially life-threatening cutaneous hypersensitivity reaction characterized by extensive mucocutaneous eruption, fever, hematologic abnormalities including eosinophilia and/or atypical lymphocytosis, and extensive organ involvement. The drugs most often responsible for causing drug reaction with eosinophilia and systemic symptoms syndrome are anticonvulsants, antimicrobial agents and antipyretic or anti-inflammatory analgesics. Although azithromycin is widely prescribed in clinical practice, serious cutaneous reactions from this agent have been rarely described. We report the first adult case of drug reaction with eosinophilia and systemic symptoms syndrome associated with azithromycin. Case presentation A 44-year-old previously healthy Caucasian man with history of tobacco use presented to his primary care physician with fever and productive cough. He was prescribed azithromycin, promethazine hydrochloride and dextromethorphan hydrobromide syrup. One week later, he developed a blistering erythematous rash over both hands, which over the next two weeks spread to involve nearly his entire body surface, sparing only his face. He was admitted to an outside hospital with signs of systemic inflammatory response syndrome and severe sepsis, presumably from a skin infection. Despite aggressive therapy he deteriorated, with worsening diffuse erythema, and was transferred to our institution. He developed multiple organ failure requiring ventilatory and hemodynamic support. Pertinent laboratory studies included a leukocytosis with a white blood cell count of 17.6×109/L and 47% eosinophils. A skin biopsy showed evidence of spongiotic lichenoid dermatitis with eosinophils and neutrophils, compatible with a systemic drug-induced hypersensitivity reaction. Our patient was started on high-dose steroids and showed dramatic improvement within 48 hours. Conclusions We report the first adult case of drug reaction with eosinophilia and systemic symptoms syndrome associated with azithromycin exposure. Clinicians should be aware of this potentially devastating complication from this commonly prescribed medication. PMID:25297051

  4. Case report of a person with Down's syndrome and multiple personality disorder.

    PubMed

    Fotheringham, J B; Thompson, F

    1994-03-01

    A case is presented of an individual with Down's syndrome and multiple personality disorder. No such cases were found in a review of the literature. Three other individuals with Down's syndrome are also discussed whose symptoms range from experiencing imaginary friends to experiencing borderline multiple personality disorder. In all these cases the imaginary friends became more evident and resistive of diversion as the levels of stress increased. We speculate that experiencing imaginary friends progresses to experiencing multiple personality disorder in some individuals as personal stress increases. These cases also indicate that limited cognitive development does not preclude individuals from presenting with imaginary friends or multiple personality disorder. PMID:8149315

  5. Acute Compartment Syndrome of the Foot due to Infection After Local Hydrocortisone Injection: A Case Report.

    PubMed

    Dumbre Patil, Sampat; Dumbre Patil, Vaishali; Abane, Sachin; Luthra, Rohit; Ranaware, Abhijit

    2015-01-01

    High-energy trauma associated with calcaneal fracture or Lisfranc fracture dislocation and midfoot crushing injuries are known causes of compartment syndrome in the foot. Suppurative infection in the deep osseofascial compartments can also cause compartment syndrome. We describe the case of a 29-year-old female who had developed a suppurative local infection that resulted in acute compartment syndrome after receiving a local hydrocortisone injection for plantar fasciitis. We diagnosed the compartment syndrome, and fasciotomy was promptly undertaken. After more than 2 years of follow-up, she had a satisfactory functional outcome without substantial morbidity. To our knowledge, no other report in the English-language studies has described compartment syndrome due to abscess formation after a local injection of hydrocortisone. The aim of our report was to highlight this rare, but serious, complication of a routine outpatient clinical procedure. PMID:24838218

  6. The benefit and burden of cancer screening in li-fraumeni syndrome: a case report.

    PubMed

    Jhaveri, Ami P; Bale, Allen; Lovick, Niki; Zuckerman, Kaye; Deshpande, Hari; Rath, Kristina; Schwartz, Peter; Hofstatter, Erin W

    2015-06-01

    Li-Fraumeni syndrome is a rare cancer predisposition syndrome classically associated with remarkably early onset of cancer in families with a typical spectrum of malignancies, including sarcoma, breast cancer, brain tumors, and adrenocortical carcinoma. Because the risks of cancer development are strikingly high for Li-Fraumeni syndrome, aggressive cancer surveillance is often pursued in these individuals. However, optimal screening methods and intervals for Li-Fraumeni syndrome have yet to be determined. In addition, there may be a significant psychosocial burden to intensive cancer surveillance and some prevention modalities. Here, we describe a case of a young woman with a de novo mutation in TP53 and multiple malignancies, with her most recent cancers found at early, curable stages due to aggressive cancer screening. The potential benefits and risks of intensive cancer surveillance in hereditary cancer syndromes is discussed. PMID:26029016

  7. A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.

    PubMed

    Terrone, Gaetano; Bienvenu, Thierry; Germanaud, David; Barthez-Carpentier, Marie-Anne; Diebold, Bertrand; Delanoe, Catherine; Passemard, Sandrine; Auvin, Stéphane

    2014-11-01

    Lennox-Gastaut syndrome (LGS) is a drug-resistant epileptic encephalopathy of childhood with a heterogeneous etiology. Recently, genome-wide association studies have led to the identification of new de novo mutations associated with this epileptic syndrome. Herein, we report an 8-year-old child with intellectual disability, severe postnatal microcephaly, Rett-like features, and LGS, carrying a de novo missense mutation in the forkhead box G1 (FOXG1) gene. This gene is responsible for FOXG1 syndrome, characterized by severe postnatal microcephaly, moderate postnatal growth deficiency, mental retardation with poor social interaction, stereotyped behavior and dyskinesias, absent language, sleep disorders, and epilepsy. Nonspecific epilepsy syndromes have been associated with this genetic disorder. Thus, we hypothesize that FOXG1 might be a new candidate gene in the etiology of LGS and suggest screening for this gene in cases of LGS with concomitant microcephaly and clinical features overlapping with Rett syndrome. PMID:25266269

  8. The Benefit and Burden of Cancer Screening in Li-Fraumeni Syndrome: A Case Report

    PubMed Central

    Jhaveri, Ami P.; Bale, Allen; Lovick, Niki; Zuckerman, Kaye; Deshpande, Hari; Rath, Kristina; Schwartz, Peter; Hofstatter, Erin W.

    2015-01-01

    Li-Fraumeni syndrome is a rare cancer predisposition syndrome classically associated with remarkably early onset of cancer in families with a typical spectrum of malignancies, including sarcoma, breast cancer, brain tumors, and adrenocortical carcinoma. Because the risks of cancer development are strikingly high for Li-Fraumeni syndrome, aggressive cancer surveillance is often pursued in these individuals. However, optimal screening methods and intervals for Li-Fraumeni syndrome have yet to be determined. In addition, there may be a significant psychosocial burden to intensive cancer surveillance and some prevention modalities. Here, we describe a case of a young woman with a de novo mutation in TP53 and multiple malignancies, with her most recent cancers found at early, curable stages due to aggressive cancer screening. The potential benefits and risks of intensive cancer surveillance in hereditary cancer syndromes is discussed. PMID:26029016

  9. Goldenhar Syndrome with Tessier's 7 Cleft: Report of a Case.

    PubMed

    Chauhan, Dinesh Singh; Guruprasad, Yadavalli

    2015-03-01

    Goldenhar syndrome, a variant of hemifacial microsomia, is a well-known developmental anomaly of maxillofacial skeleton that is apparent at birth. The first and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that may include macrostomia and lateral facial clefts. Though clefts of the orofacial region are among the most common congenital facial defects, the occurrence of lateral facial clefts (Tessier 7 cleft) in conditions such as the Goldenhar syndrome, is very rare (<5%). The lateral facial cleft, which results because of improper development of the perioral muscles of the face, gives an appearance of macrostomia giving rise to potential psychological, aesthetic and feeding problems. This clinical report describes the closure of a Tessier 7 cleft and the use of distraction osteogenesis to treat mandibular asymmetry in an 11-year-old female patient with Goldenhar's syndrome. PMID:25838668

  10. Rare Case of Monozygotic Twins Diagnosed With Klinefelter Syndrome During Evaluation for Infertility

    PubMed Central

    Barazani, Yagil; Sabanegh, Edmund

    2015-01-01

    Although neither Klinefelter syndrome nor monozygotic twins are particularly rare (1/667 male births and 3–4/1000 live births, respectively), the occurrence of both in the same pregnancy (ie, identical twins with Klinefelter syndrome) is exceedingly rare and has only been reported three times previously in the literature. This report describes the fourth ever reported case of monozygotic twins with Klinefelter syndrome (who presented to our male fertility clinic with failure to conceive) and sheds interesting light on the reproductive concordance observed with this rare clinical entity. To our knowledge, this is the first reported case of monozygotic twins with Klinefelter syndrome that describes the infertility workup and outcomes of microsurgical testicular sperm extraction. PMID:26029003

  11. [Complex regional pain syndrome in a patient with acute drug poisoning: a case report].

    PubMed

    Hiraiwa, Toshihisa; Okada, Hiroyuki; Sawada, Naotaka; Nakayama, Kimiya; Senda, Noriyasu; Kawanishi, Minoru

    2014-12-01

    We report a case with transition to complex regional pain syndrome (CRPS) caused by nerve injury associated with crush syndrome. The diagnosis was delayed because of coma due to acute drug poisoning. A 44-year-old man had attempted suicide by taking massive amounts of psychotropic drugs 2 days earlier and was transported to our hospital by ambulance. His arms had been compressed due to the prolonged (2 days) consciousness disturbance, and he experienced non-traumatic crush syndrome and rhabdomyolysis. Acute renal failure was prevented with massive infusion and hemofiltration. However, he experienced muscle and nerve injury at the compressed area, which presumably led to CRPS. In cases of suspected crush syndrome associated with acute drug poisoning, it is also important to recognize the possibility of developing CRPS. PMID:25771666

  12. Sheehan's syndrome with reversible dilated cardiomyopathy: A case report and brief overview.

    PubMed

    Islam, A K M Monwarul; Hasnat, Mohammad A; Doza, Fatema; Jesmin, Humayra

    2014-04-01

    Sheehan's syndrome is a rare condition characterized by post-partal panhypopituitarism due to necrosis of adenohypophysis resulting from severe post-partum hemorrhage. Lethargy, amenorrhea and failure of lactation are the usual presenting features. Cardiac involvement in Sheehan's syndrome is rare. The case presented here describes dilated cardiomyopathy in a 36-year-old lady who failed to respond adequately to the standard anti-failure treatment. Further investigation revealed the diagnosis of Sheehan's syndrome. Besides other manifestations, cardiac function reverted to normal after giving replacement therapy with glucocorticoid, levothyroxine and sex hormone. Physicians, specially those in developing countries, should have high index of suspicion for the diagnosis of Sheehan's syndrome while dealing with a case of 'peripartal dilated cardiomyopathy'. Persistent amenorrhea and failure of lactation may be important clues in this context. Timely diagnosis and appropriate treatment can lessen the sufferings of the patients. PMID:24719543

  13. Brugada syndrome: a case report of an unusual association with vasospastic angina and coronary myocardial bridging.

    PubMed

    Imazio, Massimo; Ghisio, Aldo; Coda, Luisella; Tidu, Massimo; Belli, Riccardo; Trinchero, Rita; Brusca, Antonio

    2002-04-01

    This report describes a case of an unusual association between vasospastic angina, coronary myocardial bridging, and Brugada syndrome. The patient complained of chest pain followed by rhythmic palpitation and syncope. Brugada syndrome ECG markers were documented with transient ST-segment elevation in lateral leads. A coronary angiogram showed a myocardial bridging in the left anterior descending artery and coronary vasospasm was reproduced after intracoronary ergonovine injection in the circumflex coronary artery. Ventricular fibrillation was induced by programmed electrical stimulation. The described association can be important because interaction between ischemia and Brugada syndrome electrophysiological substrate could modulate individual susceptibility to life-threatening ventricular tachyarrhythmias. PMID:11991381

  14. Alice in Wonderland syndrome in H1N1 influenza: case report.

    PubMed

    Augarten, Arie; Aderka, Dan

    2011-02-01

    The different aspects of the global H1N1 influenza and its complications are currently of great interest. Neurological complications of the disease and its frequency are still unknown. We report a case of an 11-year-old girl who developed Alice in Wonderland syndrome associated with H1N1 influenza. This unique clinical syndrome was previously described in other diseases. The clinician's awareness of the existence of this syndrome in H1N1 influenza might save the child from undergoing extensive diagnostic procedures. PMID:21293218

  15. A case study of brain morphometry in triplets discordant for Down syndrome.

    PubMed

    Adeyemi, Elizabeth I; Giedd, Jay N; Lee, Nancy Raitano

    2015-05-01

    Down syndrome, the most common genetic cause of intellectual disability, offers the opportunity to explore the associations between genetics and both neuroanatomic and neuropsychological phenotypes. This case report summarizes the findings of a neuroimaging and neuropsychology study of two adolescent females with Down syndrome and their same-sex discordant triplet siblings (one from each family; n?=?4). Using high-resolution magnetic resonance imaging and surface based morphometric approaches, we offer the first in vivo report of cortical surface area reductions and increases in the thickness of the cortical sheet in youth with Down syndrome relative to their typically developing same-sex triplet siblings. © 2015 Wiley Periodicals, Inc. PMID:25820455

  16. Schmidt’s syndrome presenting as a generalised anxiety disorder: a case report

    PubMed Central

    Anyfantakis, D; Symvoulakis, EK; Vourliotaki, I; Kastanakis, S

    2013-01-01

    Abstract Schmidt’s syndrome or autoimmune polyglandurar syndrome type 2 represents an uncommon endocrine disorder composed by Addison’s disease with autoimmune thyroid disease and/or type 1 diabetes mellitus. The syndrome usually affects women in the fourth decade of their lives. Prompt diagnosis and treatment can prevent serious complications. We present the case of a 64-year-old woman with generalised anxiety, facing socio-economic problems. Her symptoms attributed to stress led to a late diagnosis. Physicians involved have to be aware about endocrine disorders of which first manifestations may have atypical components mimicking mental health problems. PMID:24868260

  17. [Coincidence of epilepsy and Asperger syndrome. Case report and review].

    PubMed

    Bonus, B; Assion, H J; Deister, A

    1997-09-01

    Asperger syndrome is an autistic disorder and was first described by Hans Asperger in 1944 without further acceptance in the literature over almost four decades. Following several publications in the 1980s, for the disorder became more widely known and was first introduced into ICD-10 and DSM-IV as a new diagnosis in 1988 and 1994, respectively. The etiology is unknown. We present a female patient with typical features of Asperger syndrome, suffering also from epilepsy and internal medical disorders. The associated diseases, diagnostic criteria and possible therapeutic options are discussed. PMID:9411280

  18. A case of the Roussy-Levy syndrome family.

    PubMed

    Bartosik-Psujek, H; Stelmasiak, Z

    2001-01-01

    Roussy-Levy syndrome, also known as hereditary areflexic dystasia, is a very rare genetic neuromuscular disorder that typically becomes apparent during early childhood. The disorder is characterised by inherited gait ataxia, pes cavus and areflexia which are eventually associated with distal muscle atrophy, postural tremor and minor sensory loss. We report a family whose members in three generations (grandmother, mother, daughters) were showing these clinical signs of Roussy-Levy syndrome. All of these women have displayed gait ataxia, areflexia, pes cavus and sideways curvature of the spine (kyphoscoliosis). PMID:11977346

  19. Sodium fusidate in Guillain-Barré syndrome: a case report

    PubMed Central

    Nicoletti, F.; Nicoletti, A.; Giuffrida, S.; Di, M; Meroni, P.; Bendtzen, K.; Lunetta, M.

    1998-01-01

    A patient with Guillain-Barré syndrome is reported on who responded favourably to a short course treatment with the novel immunosuppressant sodium fusidate (Fucidin), given at a daily dose of 1.5 g for one week. Along with prompt and clear cut clinical improvement, treatment with Fucidin was associated with a rapid decline in the blood concentrations of inflammatory cytokines presumably implicated in the pathogenesis of Guillain-Barré syndrome such as interleukin-2, interferon-?, and tumor necrosis factor-?. The ex vivo production of these cytokines was also markedly diminished compared with pretreatment values. Fucidin was well tolerated and no clinical or biochemical side effects were seen.?? PMID:9703187

  20. [Atypical presentation of Gorham-Stout syndrome: Case report].

    PubMed

    González Luna, Alejandro; Nuñez Pizarro, Jorge Luis; Rodríguez Echegaray, Clodo Iván

    2015-06-01

    Gorham-Stout syndrome is an extremely rare pathology, of unknown etiology. It is characterized by proliferation of vascular channels that causes destruction and reabsorption of the bone matrix. We present a nine year-old male patient with an acute episode characterized by fever, chest pain, respiratory distress and dyspnea. The patient was submitted to computed tomography scan and a biopsy. The findings in the biopsy were multiple lytic lesions, osteolysis, and a mediastinal lymphangioma (lymphangiomatosis). The diagnosis was Gorham-Stout syndrome with atypical presentation. PMID:25996335

  1. A Case of Central Cord Syndrome Related Status Epilepticus - A Case Report -

    PubMed Central

    Lee, Soyoung; Yang, Shimo; Chang, Hyukwon

    2011-01-01

    Central cord syndrome (CCS) is extremely rare as a direct consequence of generalized epileptic seizure. CCS is associated with hyperextension of the spinal cord and has characteristic radiologic findings including posterior ligamentous injury and prevertebral hyperintensity following magnetic resonance imaging (MRI). We experienced the case of a 25-year-old man who suffered CCS after status epilepticus. Cervical spinal MRI revealed high signal intensity at the C1 level but with no signal or structural changes in other sites. After rehabilitation management, the patient significantly improved on the ASIA (American Spinal Injury Association) motor scale and bladder function. We proposed that epilepsy related CCS may be caused by muscle contractions during generalized seizure, which can induce traction injury of the spinal cord or relative narrowing of spinal canal via transient herniated nucleus pulposus or transient subluxation of vertebra. We also suggest CCS without radiologic findings of trauma has good prognosis compared with other CCS. PMID:22506176

  2. Case-control study of sudden infant death syndrome in Scotland, 1992-5

    Microsoft Academic Search

    Hazel Brooke; Angus Gibson; David Tappin; Helen Brown

    1997-01-01

    AbstractObjective: To investigate the relation between routine infant care practices and the sudden infant death syndrome in Scotland.Methods: National study of 201 infants dying of the sudden infant death syndrome (cases) and 276 controls by means of home interviews comparing methods of infant care and socioeconomic factors.Results: Sleeping prone (odds ratio 6.96 (95% confidence interval 1.51 to 31.97)) and drug

  3. “Peripheral Neuropathy Crippling Bronchial Asthma”: Two Rare Case Reports of Churg-Strauss Syndrome

    PubMed Central

    Pandita, Kamal Kishore; Bhat, Khalid Javid; Razdan, Sushil; Kudyar, R. P.

    2014-01-01

    Churg-Strauss syndrome (CSS) is a rare cause of vasculitic neuropathy. Although rare and potentially fatal, Churg-Strauss syndrome (CSS) is easily diagnosable and treatable. The presence of bronchial asthma with peripheral neuropathy in a patient alerts a physician to this diagnosis. This is vividly illustrated by the presented two cases who had neuropathy associated with bronchial asthma, eosinophilia, sinusitis, and positive perinuclear antineutrophil cytoplasmic antibodies (p-ANCA) test, which improved with administration of steroids. PMID:25580342

  4. Spontaneous compartment syndrome in a patient with diabetes and statin administration: a case report

    PubMed Central

    Flamini, Stefano; Persi, Emanuele; Calvisi, Vittorio

    2008-01-01

    Compartment syndrome is a condition characterized by pressure increasing in the inextensible muscular compartments that leads to a decrease of capillary perfusion with consequent ischemic lesions of the logia elements. The authors report a case of an unusual compartment syndrome with spontaneous onset in a patient with type II diabetes and chronic therapy with statins (Atorvastatin). The condition was successfully treated by a fasciotomy and medical support. The importance of a correct anamnesis and a high level of suspicion is emphasized. PMID:19384624

  5. Bobble-head doll syndrome due to a suprasellar arachnoid cyst: endoscopic treatment in two cases

    Microsoft Academic Search

    A. Fioravanti; U. Godano; A. Consales; C. Mascari; F. Calbucci

    2004-01-01

    Object We report two cases of bobble-head doll syndrome associated with a large suprasellar arachnoid cyst successfully treated with a minimally invasive endoscopic approach. Methods The clinical history, surgical treatment and results of two children, a 9-year-old boy and a 1-year-old girl, both presenting the clinical features of the bobble-head doll syndrome, are described. As a first procedure, a ventriculo-cystostomy

  6. Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature.

    PubMed

    Nelson, Rachel A; McNamara, Michelle; Ellis, William; Stein-Wexler, Rebecca; Moghaddam, Billur; Zwerdling, Theodore

    2009-10-01

    We report on a 5-year-old male with expressive language delay, developmental delay, short stature, and facial anomalies consistent with Floating-Harbor syndrome (FHS). In addition, he developed an intramedullary ganglioglioma. This is the first reported case of a tumor associated with FHS, and may represent an as yet undefined genetic link between spinal cord tumors and FHS, adding this syndrome to the growing list of disorders with a predisposition for tumor development. PMID:19764022

  7. [The dentomaxillofacial characteristics of the Prader-Labhart-Willi syndrome. A clinical case report].

    PubMed

    Bassarelli, V; Baccetti, T; Bassarelli, T; Franchi, L

    1991-12-01

    The authors describe the clinical and cephalometric characteristics of a case of Prader-Labhart-Willi syndrome (obesity, hypogonadism, oligophrenia, hypotonia, small hands and feet). Taurodontism and enamel-dentine dysplasia are reported as the main dental features. The craniofacial region shows an increased bony interorbital distance and a low level of the cribriform plate of the ethmoid bone. The possibility that these anomalies could be related to the etiopathogenesis of the syndrome is discussed. PMID:1815131

  8. Case history of co-morbid Asperger's syndrome and paraphilic behaviour.

    PubMed

    Milton, John; Duggan, Conor; Latham, Andy; Egan, Vincent; Tantam, Digby

    2002-07-01

    We report a case of a man with Asperger's syndrome, paraphilic behaviour and convictions for sexual offences. We describe his assessment within a secure mental health setting to determine issues of diagnosis, treatment and risk. We also highlight the difficulty in reducing the risk of further offending because of the apparent ineffectiveness of interventions for the small group with Asperger's syndrome and an offending history. Consequently, they are likely to face long periods in institutional settings. PMID:12201069

  9. Two cases of Cushing's syndrome due to overuse of topical steroid in the diaper area.

    PubMed

    Semiz, Serap; Balci, Yasemin I?ik; Ergin, Seniz; Candemir, Ma?allah; Polat, Aziz

    2008-01-01

    Topical use of corticosteroids may cause immunosuppression and iatrogenic Cushing's syndrome via hypothalamic-pituitary-adrenal axis. We report two cases with iatrogenic Cushing's syndrome with different clinical outcomes due to abuse of same potent topical steroid clobetasol propionate. One of them died because of fatal disseminated cytomegalovirus infection. The other patient recovered completely. Physicians and parents should be informed about the adverse effects of such potent topical corticosteroids and physicians should prescribe less potent agents, especially during infancy. PMID:18950396

  10. Management of Dysphagia Pre- and Postoperatively in a Case of Eagle's Syndrome

    PubMed Central

    Lewis, Vicki; Hoffman Ruddy, Bari; Spector, Brian

    2015-01-01

    Eagle's syndrome (ES) is rare condition, most frequently described within the context of case study presentation. ES results from elongation of the styloid process, contributing to symptoms such as globus sensation in the throat, as well as pain localized to the ear, neck, face, or tongue. Additional symptoms can include hypersalivation, change in vocal quality, submandibular swelling, and dysphagia. This report discusses evaluation, diagnosis, and surgical intervention with respect to Eagle's Syndrome in a patient presenting with moderate-severe dysphagia. PMID:25852957

  11. Immunohistological Study in Cases of HELLP Syndrome (Hemolysis, Elevated Liver Enzymes and Low Platelets) and Acute Fatty Liver of Pregnancy

    Microsoft Academic Search

    Abdul Halim; Naohiro Kanayama; Emad El Maradny; Kayoko Maehara; Akira Takahashi; Keisuke Nosaka; Shin Fukuo; Akira Amamiya; Takao Kobayashi; Toshihiko Terao

    1996-01-01

    We immunohistologically studied the hepatic tissue sections in cases with the syndrome of hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome; n = 2) and acute fatty liver of pregnancy (AFLP; n = 2) compared to necropsy controls. Unlike in the AFLP cases, a marked infiltration of neutro-phils in liver tissues was found in both cases of the HELLP

  12. Obsessive Compulsive Disorder Treatment in Patients with Down Syndrome: A Case Series

    ERIC Educational Resources Information Center

    Sutor, Bruce; Hansen, Mark R.; Black, John L.

    2006-01-01

    In this case series we report four cases of patients with Down syndrome with symptoms consistent with obsessive compulsive disorder. Each patient experienced substantial reduction in compulsive behaviors with pharmacotherapy of an SSRI alone or with the addition of risperidone to SSRI therapy. None of the patients experienced significant side…

  13. Fatal bacteremia by neisseria cinerea in a woman with myelodysplastic syndrome: a case report

    PubMed Central

    Zhu, Xiaofei; Li, Min; Cao, Huiling; Yang, Xuewen

    2015-01-01

    Neisseria cinerea has been rarely found in blood cultures. In this study, we are reporting a case of a Myelodysplastic Syndrome (MDS) patient in whose blood Neisseria cinerea was found and led a fatal consequence. This case will call our attentions to the uncommon pathogens in the pathogenicity of end-stage patients.

  14. Linear Nevus Sebaceous Syndrome: Report of Two Cases and a Review of the Literature

    ERIC Educational Resources Information Center

    Lovejoy, Frederick H., Jr.; Boyle, William E., Jr.

    1973-01-01

    Described are two cases of males, first seen as 2-month-old infants and followed until 6 years of age, having linear nevus sebaceous syndrome, an abnormal condition manifested by skin lesions or fatty tumors in a particular formation and neurological impairment; also, 11 cases now reported are reviewed. (Author/MC)

  15. Cronkhite-Canada syndrome A case of sustained partial-remission

    Microsoft Academic Search

    M. Fossati; F. Lombardi; C. Cattaneo; C. Borsa; F. Colombo

    2001-01-01

    A case of Cronkhite-Canada syndrome is described. Few cases have been published and in most patients the prognosis is poor. A variety of medical measures have been attempted in those in whom remission has been reported. In the patient presented here, a sustained partial-remission has been achieved with steroids.

  16. A Case of a TSH-secreting Pituitary Adenoma Associated with Evans' Syndrome.

    PubMed

    Yasuda, Atsushi; Seki, Toshiro; Oki, Masayuki; Takagi, Atsushi; Inomoto, Chie; Nakamura, Naoya; Atsumi, Hideki; Baba, Tanefumi; Matsumae, Mitsunori; Sasaki, Noriko; Suzuki, Yasuo; Fukagawa, Masafumi

    2015-01-01

    We present a case of a TSH-secreting pituitary adenoma (TSHoma) associated with Evans' syndrome. A 30-year-old woman was referred to our hospital due to purpura and ecchymoses on her limb and body and epistaxis. Evans' syndrome was diagnosed based on idiopathic thrombocytopenic purpura and autoimmune hemolytic anemia. She had a history of malocclusion and thyroid gland enlargement 4 years prior to admission. Endocrinological tests and magnetic resonance imaging also revealed that this patient had hyperthyroidism due to the TSHoma and that this adenoma concomitantly secreted GH. Recently, several cases of Evans' syndrome were associated with hyperthyroidism caused by autoimmune thyroid disease, such as Graves' disease, suggesting that these 2 conditions may have a common immunological basis. To the best of our knowledge, there is no case report of Evans' syndrome associated with hyperthyroidism due to TSHoma. Our report suggests that the excess of thyroid hormone itself promotes autoimmunity in Evans' syndrome. Thus, early treatment for hyperthyroidism is necessary in TSHomas because of the possibility that thyroid hormone normalization may prevent the development of Evans' syndrome. PMID:26150183

  17. Sensory-Motor Rehabilitation in Rett Syndrome: A Case Report

    ERIC Educational Resources Information Center

    Pizzamiglio, Maria Rosa; Nasti, Marianna; Piccardi, Laura; Zotti, Antonella; Vitturini, Claudio; Spitoni, Grazia; Nanni, Maria Vittoria; Guariglia, Cecilia; Morelli, Daniela

    2008-01-01

    Rett syndrome (RS) is a severe neurodevelopmental disorder that mostly affects females. It is characterized by a regression of motor, cognitive, linguistic, and social abilities and by an inappropriate and stereotypical use of the hands. The purpose of the current study was to explore the possibility of rehabilitating purposeful use of the hands…

  18. Budd-Chiari Syndrome: Analysis of 30 Cases

    Microsoft Academic Search

    Yusuf Bayraktar; Ferhun Balkanci; Emin Kansu; Burhan Kayhan; Serap Arslan; Muzaffer Eryilmaz; Hasan Telatar

    1993-01-01

    The authors report their experience with 30 adult patients with Budd-Chiari syndrome (BCS), which is a rare and serious disorder, characterized by hepatic outflow obstruction caused by many different conditions.The diagnosis was based on the clinical data, ultrasonography (US), vena cavography and hepatic venography, computed tomography (CT), and liver bi opsy. Behçet's disease (BD) was found in 10 patients with

  19. Midaortic syndrome and celiac disease: a case of local vasculitis

    Microsoft Academic Search

    E. Stadlmaier; A. Spary; M. Tillich; E. Pilger

    2005-01-01

    Midaortic syndrome is a variety of aortic coarctation, located in the distal thoracic aorta, the abdominal aorta or both, involving the intestinal and renal vessels, usually presenting with renovascular arterial hypertension. Underlying conditions are thought to be Takayasu’s arteritis, von Recklinghausen’s disease, and connate hypoplasia. Celiac disease is an inflammation in the small intestine, triggered by an allergic reaction to

  20. Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report

    Microsoft Academic Search

    Ana Rosa Rincón-Sánchez; Irma Elia Arce; Enrique Alejandro Tostado-Rabago; Alberto Vargas; Luis Alfredo Padilla-Gómez; Alejandro Bolaños; Selenne Barrios-Guyot; Víctor Manuel Anguiano-Alvarez; Víctor Chistian Ledezma-Rodríguez; María Cristina Islas-Carbajal; Ana María Rivas-Estilla; Alfredo Feria-Velasco; Nory Omayra Dávalos

    2012-01-01

    Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or ‘human dermatosparaxis’ is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria) with a soft, doughy texture, easy bruising, premature rupture of fetal membranes

  1. Unusual Presentation of Uncommon Disease: Anorexia Nervosa Presenting as Wernicke-Korsakoff Syndrome—A Case Report from Southeast Asia

    PubMed Central

    Mushtaq, Raheel; Shah, Tabindah; Bhat, Mudasir; Mushtaq, Sahil

    2014-01-01

    Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome. PMID:24963430

  2. Rituximab for troublesome cases of childhood nephrotic syndrome

    PubMed Central

    Safdar, Osama Y; Aboualhameael, Adila; Kari, Jameela A

    2014-01-01

    Nephrotic syndrome (NS) is the most common glomerular disease of childhood. Steroid-dependent and steroid-resistant nephrotic syndrome present challenges in their pharmaceutical management; patients may need several immunosuppressive medication for optimum control, each of which medication has its own safety profile. Rituximab (RTX) is a monoclonal antibody that targets B cells and has been used successfully for management of lymphoma and rheumatoid arthritis. Recent clinical studies showed that rituximab may be an efficacious and safe alternative for the treatment of complicated nephrotic syndrome. In this review article, we aim to review the efficacy and safety of RTX therapy in nephrotic syndrome. We reviewed the literature pertaining to this topic by searching for relevant studies on PubMed and Medline using specific keywords. The initial search yielded 452 articles. These articles were then examined to ensure their relevance to the topic of research. We focused on multicenter randomized controlled trials with relatively large numbers of patients. A total of 29 articles were finally identified and will be summarized in this review. The majority of clinical studies of RTX in complicated pediatric NS showed that rituximab is effective in approximately 80% of patients with steroid-dependent NS, as it decreases the number of relapses and steroid dosage. However, RTX is less effective at achieving remission in steroid-resistant NS. RTX use was generally safe, and most side effects were transient and infusion-related. More randomized, double-blinded clinical studies are needed to assess the role of RTX in children with nephrotic syndrome. PMID:25512892

  3. [Tarsal tunnel syndrome. Review of the topic as a result of one case].

    PubMed

    López-Gavito, E; Parra-Téllez, P; Cornejo-Olvera, R; Vázquez-Escamilla, J

    2014-01-01

    The first description of tarsal tunnel is attributed to Richter in 1897, in 1932 Pollock and Davis described the syndrome for the first time, in 1960 Kopell and Thompson described the clinical features of tarsal tunnel syndrome; and in 1962 Charles Keck described tarsal tunnel syndrome in a detailed manner with clinical cases. We present the case of a 61 year old female patient who presented symptoms in 2010, she had intermittent talalgia that increased gradually, six months later pain is constant and limiting gait, EVA is 6/10, she is diagnosed with plantar fasciitis and is referred to physiotherapy with no improvement after two months of treatment. The plantar fascia ultrasound reports thickening with micro tears in the heel bone attachment, we infiltrated the plantar fascia with platelet rich plasma with no improvement, two months later she has shock wave sessions with no changes observed. We reassess the case and make the diagnosis of tarsal tunnel syndrome clinically and with electromyography and in 2011 we infiltrate a steroid with local anesthesia with temporary improvement. In 2012, we found an EVA of 7/10 and an AOFAS of 54 points, we perform surgery and the intraoperative finding is a varicose vein that decreased the caliber of the tarsal tunnel compressing adjacent structures. The clinical case is presented and we reviewed tarsal tunnel syndrome in the literature. PMID:26021118

  4. First Report of Preoperative Imaging Diagnosis of a Surgically Confirmed Case of Valentino's Syndrome

    PubMed Central

    Mahajan, Parag Suresh; Abdalla, Mohammed Fahmy; Purayil, Nishan K.

    2014-01-01

    Perforation of a duodenal ulcer (DU) into the retroperitoneal space presenting with clinical features of acute appendicitis is known as Valentino's syndrome. Post duodenal perforation, the gastric and duodenal fluids tend to settle in the right paracolic gutter causing peritonitis and clinically mimicking acute appendicitis. Only three cases of Valentino's syndrome have been reported till date in the published literature and there is only one previous report of its preoperative imaging diagnosis. To our knowledge, this is the first reported case of preoperative imaging diagnosis in a surgically confirmed case of Valentino's syndrome. In most cases, patients with undiagnosed Valentino's syndrome are operated for acute appendicitis, and on finding a normal appendix, search is made for the cause of peritonitis, which then leads to retroperitoneal perforation of duodenum. The diagnosis of Valentino's syndrome by computed tomography (CT) imaging is easy and can help in avoiding the surgery or directing the surgeon directly to the repair of the duodenal perforation. It is, therefore, essential for emergency physicians, surgeons, and radiologists to know about this entity and consider it in the differential diagnosis. PMID:24991479

  5. Sudden Intrapartum Fetal Death in Fetuses with Absent Pulmonary Valve Syndrome: Report of Two Cases

    PubMed Central

    Wilson, Susan F.; Wong, Geoffrey P.; Zilberman, Mark V.; Urato, Adam C.

    2012-01-01

    Objective?To describe potential intrapartum complications for fetuses affected by absent pulmonary valve syndrome. Study Design?Two cases of intrapartum fetal death at full term were collected from our institution's labor and delivery unit records. Results?In both cases of intrapartum fetal death, the fetuses had been diagnosed with absent pulmonary valve syndrome and had likely experienced acute cardiac events during labor. Both were delivered as stillbirths despite emergency cesarean delivery. Conclusion?Patients should be counseled prior to labor about potential intrapartum complications for a fetus with absent pulmonary valve syndrome. Plans for fetal monitoring and the extent of aggressive intervention should be in place before labor in case sudden complications occur. PMID:23946904

  6. Bilateral Gluteal Compartment Syndrome Following Right Total Knee Revision: A Case Report

    PubMed Central

    Osteen, Kristie D.; Haque, Shireen H.

    2012-01-01

    Background Gluteal compartment syndrome is a rare occurrence traditionally found in settings of extended immobilization. Thrombolytics and medications with myositis as a potential side effect have also been implicated in a few isolated cases of spontaneous compartment syndrome. Early signs are pain on passive stretching and pain out of proportion to physical examination findings. Failure to recognize and definitively treat compartment syndrome within the first 24 to 36 hours can lead to permanent limb loss and morbidity from a host of systemic complications such as hyperkalemia, renal failure, and sepsis. Case Report We report a case of bilateral gluteal compartment syndrome in a 52-year-old patient following a right total knee revision. On postoperative day 2, physical examination after the patient became agitated and in severe distress from bilateral buttock pain showed that the right and left gluteal regions were tense, hard, and erythematous. Creatinine phosphokinase and liver function tests were significantly elevated. Following emergency fasciotomy, physicians thoroughly reviewed the operative course, medication history, and imaging studies. We withdrew simvastatin, a medication associated with spontaneous compartment syndrome, from our patient's daily medications. By day of discharge, both creatinine phosphokinase and liver function problems were decreasing, and the gluteal pain had significantly resolved. The etiology of bilateral gluteal compartment syndrome in our patient could have been a combination of intraoperative length and positioning with simvastatin-induced myositis. Obesity presented an additional risk factor. Conclusion This case highlights the importance of identifying patients at increased risk of compartment syndrome in the preoperative assessment and following them with more intensive intraoperative and postoperative monitoring. PMID:22778678

  7. Benign childhood seizure susceptibility syndrome: three case reports.

    PubMed

    Caraballo, Roberto Horacio; Aldao, María del Rosario; Cachia, Pedro

    2011-06-01

    In this study, we describe three patients who each had two different forms of idiopathic focal epilepsiy. Two of these patients had electroclinical features compatible with Panayiotopoulos syndrome and benign childhood epilepsy with centro-temporal spikes (BCECTS), one of whom developed a particular electroclinical picture of atypical benign focal epilepsy and the other an atypical evolution characterized by verbal auditory agnosia and aphasia. The third patient had clinical and electroencephalographic features of BCECTS and of idiopathic childhood occipital epilepsy (Gastaut type) which evolved into electroclinical features of continuous spikes and waves during slow sleep (CSWS). All three patients presented with two focal idiopathic epilepsies with a particular evolution associated with CSWS, supporting the concept of benign childhood seizure susceptibility syndrome as described by Panayiotopoulos (1993). PMID:21628136

  8. Sodium fusidate in Gillain-Barré syndrome: a case report.

    PubMed

    Nicoletti, F; Nicoletti, A; Giuffrida, S; Di Marco, R; Meroni, P; Bendtzen, K; Lunetta, M

    1998-08-01

    A patient with Guillain-Barré syndrome is reported on who responded favourably to a short course treatment with the novel immunosuppressant sodium fusidate (Fucidin), given at a daily dose of 1.5 g for one week. Along with prompt and clear cut clinical improvement, treatment with Fucidin was associated with a rapid decline in the blood concentrations of inflammatory cytokines presumably implicated in the pathogenesis of Guillain-Barré syndrome such as interleukin-2, interferon-gamma, and tumor necrosis factor-alpha. The ex vivo production of these cytokines was also markedly diminished compared with pretreatment values. Fucidin was well tolerated and no clinical or biochemical side effects were seen. PMID:9703187

  9. Sunct syndrome. Report of a case and treatment update

    PubMed Central

    Mayor-Subirana, Gemma; Camps-Font, Octavi; Berini-Aytés, Leonardo

    2015-01-01

    Short-lasting unilateral neuralgiform headache attacks with conjuntival injection and tearing (SUNCT) is considered a rare trigeminal autonomic cephalgias, a group of primary headache disorders characterized by brief episodes of severe unilateral headache in the distribution territory of the trigeminal nerve, accompanied by prominent ipsilateral and cranial parasympathetic autonomic features. The present report describes a SUNCT syndrome in a 64-year-old male who had been diagnosed with trigeminal neuralgia several years ago. The patient reported stabbing pain in the orbital zone and in the left upper maxillary region, of great intensity, brief duration, and a frequency of 20-100 attacks a day. Pain episodes were accompanied by conjunctival injection and tearing. Based on the anamnesis, clinical examination and a magnetic resonance imaging scan, episodic SUNCT syndrome was diagnosed and pharmacological treatment with topiramate was started. This reduced the intensity and number of attacks to 3-6 a day. Key words:Trigeminal autonomic cephalgias, SUNCT, Cluster headache, topiramate.

  10. Benign childhood seizure susceptibility syndrome: three case reports

    Microsoft Academic Search

    Roberto Horacio Caraballo; María del Rosario Aldao; Pedro Cachia

    2011-01-01

    In this study, we describe three patients who each had two different forms of idiopathic focal epilepsiy. Two of these patients\\u000a had electroclinical features compatible with Panayiotopoulos syndrome and benign childhood epilepsy with centro-temporal spikes\\u000a (BCECTS), one of whom developed a particular electroclinical picture of atypical benign focal epilepsy and the other an atypical\\u000a evolution characterized by verbal auditory agnosia

  11. Multiple Chemical Sensitivities Syndrome: Toward a Working Case Definition

    Microsoft Academic Search

    James R. Nethercott; Linda Lee Davidoff; Barbara Curbow; Helen Abbey

    1993-01-01

    A study was conducted to identify clinical diagnostic criteria that experts regarded as major for categorizing patients as having multiple chemical sensitivities (MCS) syndrome. A cross-sectional survey of 148 medical practitioners with an interest in, or familiarity with, the condition was performed scoreable questionnaires were returned by 60.1% of those surveyed. The following five criteria, all based on self-reports, were

  12. Two cases of Kallmann syndrome associated with empty sella

    Microsoft Academic Search

    Cristina Micheletto Dallago; Denise Dotta Abech; Julia Fernanda Semmelmann Pereira-Lima; Caroline Garcia Soares Leães; Rafael Loch Batista; Ericka Barbosa Trarbach; Miriam da Costa Oliveira

    2008-01-01

    Kallmann syndrome (KS) is a developmental disease characterized by the association of isolated hypogonadotropic hypogonadism\\u000a and anosmia\\/hyposmia. We report an unusual presentation of two females with KS and empty sella. These females, aged at 20\\u000a and 29-year-old, presented primary amenorrhea with prepubertal estradiol and low gonadotropin levels. No other significant\\u000a clinical signs were observed. Empty sella was observed on MRI

  13. Mycoplasma pneumoniae associated opsoclonus–myoclonus syndrome in three cases

    Microsoft Academic Search

    Benedikt Maria Huber; Susi Strozzi; Maja Steinlin; Christoph Aebi; Simon Fluri

    2010-01-01

    Opsoclonus–myoclonus syndrome (OMS) is a rare acquired movement disorder occurring in all age groups, predominantly in infants.\\u000a Although the exact pathogenesis is still undefined, there is strong evidence for a paraneoplastic or parainfectious immune\\u000a process resulting in central nervous system dysfunction. Mycoplasma pneumoniae has been implicated in a number of immune-mediated neurologic diseases [28]. However, the association of M. pneumoniae

  14. Asperger's syndrome and recurrent psychosis — A case study

    Microsoft Academic Search

    Christopher Gillberg

    1985-01-01

    A 14-year-old boy with mild mental retardation and behavioral features suggestive of the so called Asperger's syndrome is described. From the age of 8 years he has had recurrent episodes of lethargy. At the onset of puberty these episodes took on a more dramatic form and became more reminiscent of cycloid\\/manic-depressive psychosis. There is a family history of manic-depressive disorder.

  15. [The growing teratoma syndrome: report of a case].

    PubMed

    Kageyama, S; Ueda, T

    1998-08-01

    A 32-year-old man presented with a swelling of the left testis, for which he underwent high inguinal orchiectomy. Histopathological examination of the specimen revealed teratocarcinoma. Further evaluation revealed no metastasis (stage I), and he was followed-up by monthly examination without prophylactic chemotherapy (surveillance). Thirteen months after orchiectomy, AFP and hCG-beta were elevated at 133.8 ng/ml and 0.8 ng/ml respectively. Abdominal CT scan revealed para-aortic masses of recurrent tumor. Although the AFP and hCG-beta levels markedly declined after five courses of COMPE (CDDP, VCR, MTX, PEP, Etoposide) chemotherapy, the retroperitoneal masses had further enlarged and had undergone cystic change. Excision of the residual tumors was performed, and microscopic examination of specimens revealed mature teratoma without malignant components. The diagnosis of the growing teratoma syndrome was therefore made. The growing teratoma syndrome occurs in nonseminomatous testicular germ cell tumors following chemotherapy and is characterized by enlargement of metastatic lesions with normal tumor marker levels. Total surgical resection of the mass yields good results, and tumor is unresponsive to chemotherapy. Early recognition of this syndrome is important for successful treatment. PMID:9780659

  16. LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.

    PubMed

    Ramos-Geldres, T T; Dávila-Seijo, P; Duat-Rodríguez, A; Noguera-Morel, L; Ezquieta-Zubicaray, B; Rosón-López, E; Hernández-Martín, A; Torrelo-Fernández, A

    2015-05-01

    LEOPARD syndrome is an autosomal dominant disease caused by germline mutations in the RAS-MAPK (mitogen-activated protein kinase) pathway. LEOPARD is an acronym for the main manifestations of the syndrome, namely, multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and sensorineural Deafness. None of these characteristic features, however, are pathognomonic of LEOPARD syndrome, and since they are highly variable, they are often not present at the time of diagnosis. We describe 2 cases of LEOPARD syndrome without hearing loss or pulmonary stenosis in which diagnosis was confirmed by identification of a mutation in the PTPN11 gene. Regular monitoring is important for the early detection of complications, as these can occur at any time during the course of disease. PMID:25544017

  17. Clinical picture and treatment implication in a child with Capgras syndrome: a case report

    PubMed Central

    2012-01-01

    Introduction Capgras syndrome is a delusional misidentification syndrome characterized by the patient’s belief that his or her relatives have been replaced by impostors. Case presentation Here we describe the clinical picture and the therapeutic approach to an 11-year-old Caucasian girl with Capgras syndrome. A complete psychopathological assessment was conducted during the acute phase, at one month, two months and six months since diagnosis. Conclusion Subsequent follow-up evaluations in this patient allowed us to detect improvements in the psychotic symptoms following treatment with risperidone and selective serotonin reuptake inhibitors, suggesting that this combined therapy may significantly improve the clinical outcome in patients who have Capgras syndrome. PMID:23186382

  18. A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.

    PubMed

    K?l?ç, Esra; Utine, Gülen Eda; Boduro?lu, Koray

    2013-01-01

    Sotos syndrome is a multiple anomaly syndrome characterized by pre- and postnatal overgrowth with advanced bone age, macrocephaly, developmental delay, and distinctive facial phenotype. Autosomal dominant mutations and deletions of the nuclear receptor set domain gene (NSD1), which is located at chromosome 5q35, are responsible for most of the cases. We describe a six-year old boy who had tall stature, macrocephaly, typical facial appearance, learning disability, megaloencephaly, corpus callosum dysgenesis, and colpocephaly. Although he had normal bone age, the diagnosis of Sotos syndrome was suspected with these clinical findings, and fluorescence in situ hybridization analysis of the patient showed a heterozygous deletion covering the NSD1 region in the 5q35 locus. A brief overview of the syndrome is presented. PMID:24192683

  19. Three Cases of Palatal Tics and Gilles De La Tourette Syndrome.

    PubMed

    Rizzo, Renata; Cath, Danielle; Pavone, Piero; Tijssen, Marina; Robertson, Mary M

    2015-08-01

    Five patients with palatal tics and Gilles de la Tourette syndrome have been previously reported. Little is known about the characteristics of palatal tics given that there are so few reports. On one hand, palatal tics may be rare. Alternatively, they may be less well recognized than repetitive eye blinking or sniffing, which are both obvious and, therefore, more often reported. We describe 3 patients with palatal tics and Gilles de la Tourette syndrome. We also review the 5 patients reported in the literature and explore whether there are characteristic features among this group of 8 cases. The 8 patients had the following features: (1) Personal history of other multiple motor/vocal tics, (2) the presence of typical Gilles de la Tourette syndrome comorbidities, (3) positive family history of tics and/or Gilles de la Tourette syndrome comorbidities, (4) the presence of audible "ear clicks," (5) younger age at onset (2 years). We suggest that palatal tics are underreported. PMID:25246300

  20. Triple X Syndrome with Short Stature: Case Report and Literature Review

    PubMed Central

    Li, Mingyan; Zou, Chaochun; Zhao, Zhengyan

    2012-01-01

    Background Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. It is mainly derived from maternal nondisjunctional errors during meiosis. To highlight the clinical features and diagnosis of triple X syndrome, we present a rare phenotype of the syndrome. Case Presentation A 5.9 year-old girl was admitted to our hospital because of short stature. Both her height and weight were below the 3rd percentile compared to the normal peers. She was found with mild motor and speech delay. Laboratory investigation showed low level of IGF-1 and zinc, elevated estradiol level and normal result of arginine provocation test. Conclusion Our data suggest that triple X syndrome should also be suspected in patients with short stature, elevated estradiol and low level of IGF-1, even with normal result of arginine provocation test. PMID:23056899

  1. Bilateral pleural effusion with APLA positivity in a case of rhupus syndrome

    PubMed Central

    Saha, Kaushik; Saha, Arnab; Mitra, Mrinmoy; Panchadhyayee, Prabodh

    2014-01-01

    Rhupus syndrome is a rare syndrome characterized by overlap of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Our patient was a diagnosed case of RA and developed SLE 2 years after. She was a middle-aged woman, presented with bilateral pleural effusion with exacerbation of skin and joint symptoms of SLE. We diagnosed the case as tubercular pleural effusion by positive Mycobacterium tuberculosis in bactec 460 culture. She had also anti-phospholipid antibody positivity without any symptoms and signs of thrombosis. PMID:25378850

  2. Neonatal sepsis and multiple skin abscess in a newborn with Down's syndrome: A case report.

    PubMed

    Kali, Arunava; Sivaraman, Umadevi; Sreenivasan, Srirangaraj; Stephen, Selvaraj

    2013-01-01

    Neonatal sepsis is a leading cause of neonatal mortality. Congenital heart disease accounts for additional risk of sepsis in neonates. Here we report a case of Down's syndrome with late onset neonatal sepsis associated with multiple superficial skin abscesses simulating staphylococcal infection. The baby was empirically treated with vancomycin. Subsequently, multidrug resistant Klebsiella pneumoniae was detected from both pus and blood culture. Change to appropriate antibiotic resulted in clinical recovery. Although sepsis is one of the major ailments in neonates, atypical presentations of neonatal sepsis in Down's syndrome patients are underreported. Here we highlight the atypical presentation of Klebsiella sepsis and the importance of early antibiogram in such cases. PMID:23483739

  3. Protein-Losing Gastroenteropathy Associated With Sjögren's Syndrome: First Known Case Reported Outside of Asia

    PubMed Central

    Gupta, Amit; Cohen, Natalie L.; McCarthy, Sean; McHugh, Jonathan B.

    2015-01-01

    Protein-losing gastroenteropathy (PLGE) is a rare extraglandular manifestation of Sjögren's syndrome, reported in fewer than 10 cases. We report a 58-year-old white woman with Sjögren's syndrome, type 1 renal tubular acidosis, and PLGE, who presented with cachexia and 100-pound weight loss. The diagnosis was made based on hypoalbuminemia in the absence of significant proteinuria, low levels of fat soluble vitamins, low transferrin, and an elevated alpha-1 antitrypsin (A1AT) fecal clearance, supported by imaging and endoscopy, with biopsy showing lymphocytic infiltration. She was successfully treated with cyclophosphamide and prednisone. To our knowledge, this is the first such case outside of Asia.

  4. [A case of acute limbic encephalitis with cerebral salt wasting syndrome].

    PubMed

    Nishio, Motonobu; Nishitani, Nobuyuki; Tanaka, Keiko

    2014-01-01

    A 37-year-old woman presented with psychiatric symptoms. Cerebrospinal fluid analysis revealed pleocytosis and increased protein. The patient was diagnosed with limbic encephalitis on the basis of the clinical course. However, remarkable hyponatremia was noted throughout the clinical course, leading to a diagnosis of cerebral salt wasting syndrome (CSWS). The hyponatremia was alleviated by supplementation with sodium and water. The findings seen in this case indicate that differentiation between syndrome of inappropriate of antidiuretic hormone and CSWS is important in cases of hyponatremia accompanied by central nervous system disease. PMID:25142538

  5. A Case of Acute Angle-closure Glaucoma Secondary to Posterior Scleritis in Patient with Sturge-Weber Syndrome

    Microsoft Academic Search

    Ikuyo Maruyama; Hiroshi Ohguro; Mitsuru Nakazawa

    2002-01-01

    Background: Sturge-Weber syndrome has been known to be frequently associated with facial cutaneous angioma and ipsilateral glaucoma. However, as far as we know, no cases accompanied by acute angle-closure glaucoma have been reported in patients with Sturge-Weber syndrome.Case: A 14-year-old boy with unilateral acute angle-closure glaucoma secondary to posterior scleritis associated with Sturge-Weber syndrome is described.Observations: Slit-lamp examination revealed diffuse

  6. Herlyn–Werner–Wunderlich syndrome: An “early” onset case report and review of Literature

    PubMed Central

    Angotti, R.; Molinaro, F.; Bulotta, A.L.; Bindi, E.; Cerchia, E.; Sica, M.; Messina, M.

    2015-01-01

    Herlyn–Werner–Wunderlich syndrome (HWWS) is a rare congenital mullerian anomaly consisting of uterus didelphys, hemivaginal septum, and unilateral renal agenesis [1,2]. Most authors reported cases of Herlyn–Werner–Wunderlich syndrome with prepuberal or postpuberal onset with cyclical abdominal pain and a vaginal mass (3–8). Only six cases are reported in Literature with early onset of this syndrome under 5 years (9–14). Our case is about 3 years old girl, with all the features of this syndrome who came to our attention for lower abdominal mass. The aim of this article is to share our experience and focus the attention on the importance of high level of suspicion of HWWS in neonatal period to early diagnosis and treatment. The possible early presentation of this syndrome should be suspected in all neonates (females) with renal agenesia confirmed postnatally or with prenatal diagnosis. It is common, in fact, an error of evaluation with planning of removal of mass, that can damage patients in term of chance for a successful reproductive outcome. For all these reasons, our team consider HWWS as differential diagnosis in newborn with prenatal ultrasonography of a cystic mass behind the urinary bladder in the absence of a kidney and plan a pelvic ultrasound (with aim to identify an uterus, normal or dydhelfus, and presence or absence of pelvic mass), an examination under anesthesia and cystoscopy and vaginoscopy, if it is necessary. A high level of suspicion, indeed, is the key to early diagnosis. PMID:25932973

  7. Career barriers for women executives and the Glass Ceiling Syndrome: the case study comparison between French and Turkish women executives.

    E-print Network

    Paris-Sud XI, Université de

    Career barriers for women executives and the Glass Ceiling Syndrome: the case study comparison Management Career barriers for women executives and the Glass Ceiling Syndrome: the case study comparison between French and Turkish women executives. Cansu Akpinar-Sposito Octobre ­ 2012 Ecole Doctorale Sciences

  8. Age-Related Incidence Curve of Hospitalized Shaken Baby Syndrome Cases: Convergent Evidence for Crying as a Trigger to Shaking

    ERIC Educational Resources Information Center

    Barr, Ronald G.; Trent, Roger B.; Cross, Julie

    2006-01-01

    Objective: To determine whether there is an age-specific incidence of hospitalized cases of Shaken Baby Syndrome (SBS) that has similar properties to the previously reported ''normal crying curve,'' as a form of indirect evidence that crying is an important stimulus for SBS. Design and setting: The study analyzed cases of Shaken Baby Syndrome by…

  9. A Case of Neuromyelitis Optica Masquerading as Miller Fisher Syndrome

    PubMed Central

    Furutani, Yuka; Hata, Masayuki; Miyamoto, Kazuaki; Moribata, Yusaku; Yoshimura, Nagahisa

    2014-01-01

    A 22-year-old woman presented with double vision that she had experienced since an infection 2 weeks previously. A neurological examination showed limited bilateral eye abduction, mimicking Miller Fisher syndrome. However, T2-weighted magnetic resonance imaging of her brain revealed hyperintense areas in the tegmentum of the pons, including the abducens nucleus, and her serum anti-aquaporin-4 antibody test was positive. She was finally diagnosed with neuromyelitis optica. Intravenous high-dose steroid therapy immediately improved the patient's abduction palsy, but bilateral optic neuritis manifested during the treatment. Subsequent treatment with plasma exchange improved her optic neuritis symptoms. PMID:25408664

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

    PubMed Central

    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 quick but correct diagnosis. Finally, the most appropriate treatment approach is presented, incorporating rehabilitative methods designed to ensure a full and prompt functional recovery and resumption of physical activity. PMID:23960708

  11. [Progression of hepatic fibrosis observed by repeated liver biopsies in an adult case of COACH syndrome].

    PubMed

    Makino, Yuki; Igura, Takumi; Imai, Yasuharu; Fukuda, Kazuto; Sawai, Yoshiyuki; Kogita, Sachiyo; Uenoyama, Naoto; Doi, Yoshinori; Kiso, Shinichi; Hiramatsu, Naoki; Tamura, Shinji; Hayashi, Norio; Takehara, Tetsuo

    2012-07-01

    A 30-year-old man was admitted to Osaka University Hospital for the treatment of gastric varices and assessment of indication for liver transplant. When he was 6 years old, liver dysfunction was pointed out and diagnosed as chronic inactive hepatitis by liver biopsy. At 13 years of age, the second liver biopsy proved congenital hepatic fibrosis (CHF). The third liver biopsy was performed when he was 30 years old, and the progression of hepatic fibrosis was confirmed. Besides CHF, we recognized oligophrenia, cerebellar ataxia, hypoplasia of cerebellar vermis and coloboma, leading to the diagnosis of COACH syndrome. COACH syndrome is quite rare, and our case is especially valuable because he was diagnosed as an adult case and the progression of hepatic fibrosis could be followed through several liver biopsies. We should be aware of COACH syndrome in mind when we encounter CHF patients. PMID:22790627

  12. Erasmus Syndrome in a 42-Year-Old Male: A Rare Case Report

    PubMed Central

    Pan, Koushik

    2015-01-01

    Erasmus syndrome is a rare entity in which systemic sclerosis develops following exposure to silica with or without silicosis. Few case reports are available in literature. We report here a case of Erasmus syndrome in a 42-year-old manual labourer. The patient presented with arthralgia, Raynoud’s phenomenon, skin tightening and microstomia along with features of Interstitial Lung Disease (ILD) and pulmonary arterial hypertension. Evidence of Interstitial Lung Disease (ILD) with mediastinal lymphadenopathy as well as pulmonary arterial hypertension with vascular reactivity was found in appropriate investigations. Serological markers of systemic sclerosis were strongly positive. After a diagnosis of Erasmus syndrome was made, a combination of drugs including Prednisone, Cyclophosphamide and Nifedipine was instituted this led to moderate improvement in his symptoms over 6 months.

  13. A clinical case report and literature review of the 3q29 microdeletion syndrome.

    PubMed

    Cox, Devin M; Butler, Merlin G

    2015-07-01

    We report on a 15-year-old male with the 3q29 microdeletion syndrome and summarize the medical literature. He had intellectual disability, autism spectrum disorder, anxiety, obsessive compulsive tendencies, speech delay, delayed walking, a hypernasal voice, gait abnormalities, chronic constipation, gastroesophageal reflux disorder, urinary voiding dysfunction, abnormal skin pigmentation, and dysmorphic features. We present a review of the literature for the 3q29 microdeletion syndrome by comparing both the phenotype and the genetic defects in reported cases. Of the 38 previously reported cases with deletion size information, the most common chromosome deletion was 1.6?Mb in size including ?30 genes. This emerging microdeletion syndrome is characterized by intellectual disability, speech delay, behavioral problems, craniofacial dysmorphism, and musculoskeletal abnormalities. PMID:25714563

  14. Upper extremity deep vein thrombosis (Paget-Schroetter syndrome) after surfing: a case report.

    PubMed

    Keene, David J

    2015-04-01

    This case report summarises the presentation of a 28-year-old female with signs and symptoms characteristic of thoracic outlet syndrome, but who was later found to have an effort-induced Upper Extremity Deep Vein Thrombosis (UEDVT), otherwise known as Paget-Schroetter syndrome. Effort-induced UEDVT is rare, but the similarity between the signs and symptoms of thoracic outlet syndrome and this type of thrombosis can result in patients with this condition presenting to musculoskeletal therapists. The key features of the case are described, followed by an overview of UEDVT and the importance of recognising this condition in musculoskeletal therapy practice. The role of therapists in referring for early medical diagnostics is key to ensuring management of the thrombosis is instigated early, therefore reducing the risk of life threatening consequences such as pulmonary embolism. PMID:25220111

  15. Red ear syndrome precipitated by a dietary trigger: a case report

    PubMed Central

    2014-01-01

    Introduction Red ear syndrome is a rare condition characterized by episodic attacks of erythema of the ear accompanied by burning ear pain. Symptoms are brought on by touch, exertion, heat or cold, stress, neck movements and washing or brushing of hair. Diagnosis and treatment of this condition are challenging. The case we report here involves a woman whose symptoms were brought on by a dietary trigger: orange juice as well as stress, causing significant physical and psychological morbidity. Avoidance of triggers resulted in symptomatic improvement. Case presentation A 22-year-old Caucasian woman who was a student presented twice to our department with evolving symptoms, the first time with hyperacusis (abnormal sound sensitivity arising from within the auditory system to sounds of moderate volume), intermittent right tinnitus and subjective hearing difficulties. She presented five years later with highly distressing episodes of erythematous ears, which were associated with burning pain around the ear and temporal areas, and intolerance to noise. After keeping a symptom diary, she identified orange juice and stress as triggers of her symptoms. No local head and neck pathology was present. Investigations and imaging were negative. Avoidance of triggers led to great symptomatic improvement. To the best of our knowledge, dietary triggers have not previously been reported as a trigger for this syndrome. This case shows a direct temporal link to a dietary trigger and supports a primary pathogenesis. Recognition and management of primary headache disorder and simple dietary and lifestyle changes brought about symptomatic relief. Conclusion Red ear syndrome is a little-known clinical syndrome of unknown etiology and management. To the best of our knowledge, our present case report is the first to describe primary red ear syndrome triggered by orange juice. Clinical benefit derived from avoidance of this trigger, which is already known to precipitate migraines, gives some insight into the pathogenesis of red ear syndrome. PMID:25303997

  16. The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.

    PubMed

    Cheon, Chong Kun; Kim, Gu Hwan; Yoo, Han Wook

    2015-01-01

    Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15. Here, we report the case of a 32-day-old Korean male with HDR syndrome. He was presented due to repeated seizures over previous 3 days. The patient was born after 40 weeks of gestation with birth weight of 2930 g, and was the first-born baby of healthy Korean parents. Hypoparathyroidism was first noticed due to seizure. A multicystic left dysplastic kidney and vesicoureteral reflux were detected by ultrasound after birth. Auditory brainstem response (ABR) testing revealed that the patient had moderate sensorineural deafness, with hearing losses of 80 dB at the mid and higher frequencies for both ears. Echocardiography finding revealed secundum atrial septal deftect. Based on biochemical results and clinical findings, a presumptive diagnosis of HDR syndrome was made. GATA3 mutation analysis identified a heterozygous deletion, c.153del (p.Phe51Leufs*144) in exon 1 causing a frameshift mutation, which is a novel de novo mutation. Therefore, we suggest that HDR syndrome should be considered in the differential diagnosis in symptomatic or asymptomatic patients with hypoparathyroidism, and that renal ultrasound or ABR testing be performed to prevent a missed diagnosis. This is the first report on Korean patient with confirmed HDR syndrome with novel mutation. PMID:25510779

  17. Diode laser photocoagulation in PHACES syndrome hemangiomas: a case series

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Russo, N.; Polimeni, A.; Favia, G.; Lacaita, M. G.; Limongelli, L.; Franco, S.

    2014-01-01

    PHACES syndrome is a pediatric syndrome with cutaneous and extra-cutaneous manifestations, such as Posterior fossa defects, Hemangiomas, Arterial lesions, Cardiac abnormalities/aortic coarctation, Eye abnormalities and Sternal cleft. Facial hemangiomas affect the 75% of patients and may arise on the oral mucosa or perioral cutaneous regions. In this study we treated 26 Intraoral Haemangiomas (IH) and 15 Perioral Haemangiomas (PH) with diode laser photocoagulation using a laser of 800+/-10nm of wavelength. For IH treatment an optical fiber of 320 ?m was used, and the laser power was set ted at 4 W (t-on 200 ms / t-off 400ms; fluence: 995 J/cm2). For PH treatment an optical fiber of 400 ?m at the power of 5 W was used (t-on 100 ms / t-off 300 ms; fluence: 398 J/cm2). IH healed after one session (31%), the other (69%) after two sessions of Laser therapy. In each session, only a limited area of the PH was treated, obtaining a progressive improvement of the lesion. Diode laser photocoagulation is an effective option of treatment for IH and PH in patients affected by PHACE because of its minimal invasiveness. Moreover laser photocoagulation doesn't have side effects and can be performed repeatedly without cumulative toxicity. Nevertheless, more studies are required to evaluate the effectiveness of the therapy in mid and long time period.

  18. Acute venous thrombosis as complication and clue to diagnose a SAPHO syndrome case. A case report.

    PubMed

    Rosero, A; Ruano, R; Martin, M; Hidalgo, C; Garcia-Talavera, J

    2013-01-01

    This report concerns a male adult admitted for sternal and left arm pain, who was diagnosed and treated for acute deep venous thrombosis in the left subclavian and axillary veins. X-ray and a hybrid single photon emission tomography and computed tomography (SPECT-CT) scintigraphy scan revealed high intensity uptake in both sternoclavicular joints, which corresponded to hyperostosis, thereby suggesting a SAPHO syndrome. Upon reviewing the patient's medical history, we found dermatological pustulosis disease and an intermittent sternal chest pain untreated since 10 years ago. In the biochemical study we found erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) elevation, hyperglobulinemia, and mild anaemia. Initial treatment included nonsteroidal anti-inflammatory drugs (NSAIDs) with low response, which then changed to methotrexate, sulfasalazine, and prednisone. The patient's pain was controlled almost completely in 10 months. A control bone scan revealed a marked decrease in intensity of bone deposits according to clinical response. To our knowledge, there are only a few cases of SAPHO and thrombosis and none are followed up with a bone SPECT-CT scan. PMID:24149018

  19. SELECTIVE IGA DEFICIENCY MIMICKING CHURG-STRAUSS SYNDROME AND HYPEREOSINOPHILIC SYNDROME: A CASE REPORT

    PubMed Central

    TAKAHASHI, NORIYUKI; KONDO, TAKESHI; FUKUTA, MAMIKO; TAKEMOTO, AYUMU; TAKAMI, YUICHIRO; SATO, MOTOKI; ANDO, TAKAFUMI; HASHIMOTO, NAOZUMI; SUZUKI, TOMIO; SATO, JUICHI; YAMAMURA, MASAHIRO; BAN, NOBUTARO

    2013-01-01

    ABSTRACT Selective IgA deficiency (SIgAD) is the most common type of primary immunoglobulin deficiency. Most individuals with SIgAD are asymptomatic. However, some patients are associated with allergic and autoimmune disease. SIgAD is included in the list of differential diagnoses of eosinophilia. We experienced a patient who initially presented with abdominal pain and eosinophilia. A >1-year follow-up revealed SIgAD, and we had difficulty differentiating it from Churg-Strauss syndrome (CSS) or hypereosinophilic syndrome (HES). A 66-year-old Japanese male presented with a history of recurrent abdominal pain. A diagnostic work-up revealed eosinophilia, eosinophilic gastritis, eosinophilic pneumonia, and SIgAD over 1 year of clinical observation. He also suffered from asthma and sinusitis. Anti-neutrophil cytoplasmic antibody was negative and vasculitis was not detected in the obtained tissue specimens of stomach, lung, nose and skin. The patient showed no evidence of drug ingestion, parasitic infections, or malignant neoplasms. Although we cannot rule out prevasculitic CSS and idiopathic HES, the whole clinical picture in this patient can be explained most consistently by SIgAD. PMID:23544278

  20. [Case report: acute carpal tunnel syndrome with prolapse of the median nerve].

    PubMed

    Kindler, C; Lukas, B

    2013-10-01

    We report a case of an 80-year-old woman with an acute carpal tunnel syndrome. This was based on an acute episode of chondrocalcinoses and accompagnied by a prolaps of the median nerve into a gap of the forearm fascia as result of a cut injury in childhood. PMID:24089308

  1. A mucormycosis case presented with orbital apex syndrome and hemiplegia in a renal transplant patient.

    PubMed

    Turan, Mehmet Nuri; Tatar, Erhan; Yaprak, Mustafa; Arda, Bilgin; Kiti?, Ömer; Metin, Dilek Ye?im; Ho?co?kun, Cüneyt; Töz, Hüseyin

    2013-12-01

    Solid organ transplantation is a risk factor for mucormycosis. Mucormycosis is a necrotizing opportunistic fungal infection with high morbidity and mortality. We report a fatal mucormycosis case with rhino-orbital-cerebral involvement in a renal transplant patient, which presented with orbital apex syndrome and hemiplegia. PMID:23054315

  2. How Well Do Young Offenders with Asperger Syndrome Cope in Custody?: Two Prison Case Studies

    ERIC Educational Resources Information Center

    Paterson, Philip

    2008-01-01

    This article is based on a study undertaken in 2005. It was conducted under the supervision of Professor Carolyn Kagan and with the approval of an ethics committee from the department of psychology and speech pathology at Manchester Metropolitan University. Case examples are explored of two male young offender prisoners who have Asperger syndrome

  3. Hungarian case with Costello syndrome and translocation t(1,22)

    SciTech Connect

    NONE

    1995-07-03

    The purpose of this short case report is to document the presence of the Costello syndrome in a Hungarian girl. Clinical manifestations include characteristic facial changes, skeletal involvements, mild mental retardation. Chromosome analysis showed a balanced translocation: 46,XX,t(1,22)(q25,q11). 7 refs., 1 fig.

  4. First case of mirtazepine-induced Stevens-Johnson syndrome from India

    PubMed Central

    Bhasin, Amit; Gurtoo, Anil; Gupta, Latika; Aggarwal, Gunjan

    2012-01-01

    A 28-year-old woman, a known case of systemic lupus erythematosus (SLE), was admitted with mucocutaneous ulceroerosive lesions with blisters and thrombocytopenia after taking antidepressant mirtazepine. Exacerbation of SLE and drug-induced eruption was diagnosed. Clinical and laboratory markers were suggestive of Stevens-Johnson syndrome. This is a rare adverse effect of the newer generation antidepressant mirtazepine. PMID:23112435

  5. Foot schwannomas that mimic nerve-entrapment syndromes: a report of three cases.

    PubMed

    Carpintero, Pedro; Gascón, Emilio; Abad, José Antonio; Ruza, Manuel

    2006-01-01

    Schwannomas of the foot are rare. We describe three cases that mimicked compressive neuropathy, two resembling tarsal tunnel syndrome and a third resembling Morton's neuroma. All three patients had complete resolution of their pain after resection of the tumor. PMID:16868328

  6. A migraine variant with abdominal colic and Alice in wonderland syndrome: a case report and review

    Microsoft Academic Search

    Sherifa A Hamed

    2010-01-01

    BACKGROUND: Abdominal migraine is a commonly described migraine variant in children and young adults, but associations with Alice in Wonderland syndrome and lilliputian hallucinations are exceptional. CASE PRESENTATION: A 20 years-old male experienced frequent and prolonged attacks of abdominal colic associated with autonomic manifestations started at the age of ten. At the age of 17, he additionally described prolonged attacks

  7. A case of Barber-Say syndrome in a male Japanese newborn

    PubMed Central

    Suga, Kenichi; Shono, Miki; Goji, Aya; Matsuura, Sato; Inoue, Miki; Kawahito, Masami; Kinoshita, Michiyo; Takeda, Misa; Mori, Kazuhiro

    2014-01-01

    Key Clinical Message We reported a case of Barber-Say syndrome (BSS) in a Japanese newborn. Distinctive features of BSS were found; macrostomia, gingival dysplasia, cup-shaped low-set ears, wrinkling redundant skin, and hypertrichosis. Fundus showed subretinal drusenoid deposits, a novel finding of BSS. Genetic analysis is underway using next-generation genome sequencing and microarray analysis. PMID:25614816

  8. A case of Stevens-Johnson syndrome possibly induced by amifostine during radiotherapy.

    PubMed

    Zollo, Enrico; Cusano, Francesco; Argenone, Angela; Cusano, Carlo Ivan; Pelosi, Patrizia; Pironti, Teresa; Spacagna, Ettore; Viscusi, Alfonso; Lioce, Marco

    2007-01-01

    Skin reactions to amifostine are considered to be rare. Here we describe the case of a patient who developed a severe skin eruption (Stevens-Johnson syndrome) during radiotherapy probably due to amifostine. As in most of the patients described so far, the worst lesions were located in the skin areas previously treated with radiotherapy. PMID:18338505

  9. Mediating Meaning for Individuals with Down Syndrome: A Phenomenological Case Study

    ERIC Educational Resources Information Center

    McCullough, Michelle J.

    2012-01-01

    The current phenomenological case study, based in part on Vygotsky's sociocultural theory, set out to examine the lived experiences of individuals sharing and mediating meaningful communication with individuals who have Down syndrome. To accomplish this, the researcher interviewed several categories of caregivers who regularly interact with…

  10. Neuroleptic Malignant Syndrome and Mental Retardation: Review and Analysis of 29 Cases.

    ERIC Educational Resources Information Center

    Boyd, Richard D.

    1993-01-01

    Neuroleptic malignant syndrome, an uncommon but potentially lethal complication of antipsychotic medication, is reviewed, including analysis of 29 cases in which the condition appeared in individuals with mental retardation. Recommendations about reducing morbidity and mortality in this population are offered. (Author/DB)

  11. Anesthetic management of a patient with Freeman-Sheldon syndrome: case report.

    PubMed

    Madi-Jebara, Samia; El-Hajj, Christine; Jawish, Dolly; Ayoub, Eliane; Kharrat, Khalil; Antakly, Marie-Claire

    2007-09-01

    The Freeman-Sheldon syndrome (FSS) is a rare congenital myopathy and dysplasia. The musculoskeletal and soft-tissue manifestations of FSS often require orthopedic and plastic reconstructive surgery. We report a case of a 7-year-old girl with FSS operated for lower limb malformation during spinal anesthesia. PMID:17967677

  12. Successful Aging in a 70-Year-Old Man with Down Syndrome: A Case Study

    ERIC Educational Resources Information Center

    Krinsky-McHale, Sharon J.; Devenny, Darlynne A.; Gu, Hong; Jenkins, Edmund C.; Kittler, Phyllis; Murty, Vundavalli V.; Schupf, Nicole; Scotto, Luigi; Tycko, Benjamin; Urv, Tiina K.; Ye, Lingling; Zigman, Warren B.; Silverman, Wayne

    2008-01-01

    The authors present a case study of a 70-year-old man with Down syndrome ("Mr. C.") who they followed for 16 years and who does not exhibit declines in cognitive or functional capacities indicative of dementia, despite having well-documented, complete trisomy 21. The authors describe the age-associated changes that occurred over 16 years as well…

  13. Deafness due to bilateral endolymphatic sac tumours in a case of von Hippel-Lindau syndrome

    Microsoft Academic Search

    G Kempermann; H P Neumann; R Scheremet; B Volk; W Mann; J Gilsbach; R Laszig

    1996-01-01

    A case of bilateral endolymphatic sac tumours is reported. In a patient with von Hippel-Lindau syndrome, tumour growth in the right cerebellopontine angle caused deafness. The tumour was removed and classified as a metastasis from a thyroid carcinoma. However, on thyroidectomy no primary neoplasm could be found. Eight years later a similar tumour was operated on in the left petrosal

  14. Neuroepidemiologic Trends in 105 US Cases of Pediatric Opsoclonus-Myoclonus Syndrome

    Microsoft Academic Search

    Elizabeth D. Tate; Tyler J. Allison; Michael R. Pranzatelli; Steven J. Verhulst

    2005-01-01

    Opsoclonus-myoclonus syndrome (OMS) is a rare, autoimmune neurological disorder that is poorly rec- ognized and undertreated. Neuroblastoma is found in one half of the cases. Because of the high incidence of spontaneous regression of neuroblastoma, it is unknown whether not finding a tumor means there was none. To define demographic trends and the standard of care in the first large

  15. Clinical, Cognitive and Anatomical Evolution from Nonfluent Progressive Aphasia to Corticobasal Syndrome: A Case Report

    Microsoft Academic Search

    Maria Luisa Gorno-Tempini; Ryan C. Murray; Katherine P. Rankin; Michael W. Weiner; Bruce L. Miller

    2004-01-01

    Recent clinical and pathological studies have suggested that frontotemporal lobar degeneration (FTLD) and corticobasal syndrome (CBS) show clinical and pathological overlap. We present four years of longitudinal clinical, cognitive and anatomical data in the case of a 56-year-old woman, AS, whose clinical picture evolved from FTLD to CBS. For the first three years, AS showed a progressive speech and language

  16. Visceral aneurysms in Ehlers-Danlos syndrome: Case report and review of the literature

    Microsoft Academic Search

    J Parfitt; R. T. A Chalmers; J. H. N Wolfe

    2000-01-01

    A patient with Ehlers-Danlos syndrome type IV had a celiac artery aneurysm. There are only nine previously published cases of visceral artery aneurysms in this condition, and surgical management was used in only four of them. This is, we believe, the first published report of a successfully treated celiac artery aneurysm in this condition in which the hazards of treatment

  17. Fanconi syndrome and renal failure induced by tenofovir: A first case report

    Microsoft Academic Search

    David Verhelst; Matthieu Monge; Jean-Luc Meynard; Bruno Fouqueray; Béatrice Mougenot; Pierre-Marie Girard; Pierre Ronco; Jerome Rossert

    2002-01-01

    Although nephrotoxicity of cidofovir and adefovir is well established, no renal side effects have been observed yet with tenofovir, which is the third member of this family. The authors report the case of a patient who had Fanconi syndrome, nephrogenic diabetes insipidus, and acute renal failure during treatment with tenofovir, a nucleotide reverse transcriptase inhibitor that recently has been approved

  18. Student's Corner Post-Infarct Cerebellar Cognitive Affective Syndrome: A Case Report

    Microsoft Academic Search

    Ali Jawaid; Muhammad Ameen Rauf; Uzma Usman; Bhojo A. Khealani

    Post Infarct cerebellar cognitive affective syndrome is a rare disorder, characterized by cognitive impairment in the domains of memory, language, visuo-spatial functioning and affect after cerebellar stroke. We report a case of young female who developed mood alteration and cognitive disturbance following isolated cerebellar infarct. We, therefore, advocate a potential role of cerebellum in regulation of cognition and behaviour in

  19. A case of neurosarcoidosis that presented with symptoms of Guillain–Barré syndrome

    PubMed Central

    Oldroyd, A; Dawson, T; Nixon, J

    2011-01-01

    This case report is of a patient who presented with clinical features suggestive of Guillain–Barré syndrome, who on investigation was found to have neurosarcoidosis. The patient was treated with high-dose corticosteroids and physiotherapy and he improved in condition substantially over 1 month. Neurosarcoidosis and its various presentations are discussed in the literature review. PMID:22700608

  20. Dyke-Davidoff-Masson syndrome: imaging features with illustration of two cases

    PubMed Central

    Rani, Jyotsna Y.

    2015-01-01

    Dyke-Davidoff-Masson syndrome is a rare entity characterized by hemi cerebral atrophy/hypoplasia secondary to brain insult in fetal or early childhood period along with ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis. We present two cases of this uncommon condition and discuss its imaging features, differential diagnosis, treatment options and prognosis. PMID:26029650

  1. Clinical approach to a suspected case of first branchial arch syndrome.

    PubMed

    Yamaguchi, Noboru; Nakamura, Shiho; Yamaza, Haruyoshi; Nishigaki, Soichiro; Masuda, Keiji; Yanagita, Ken-Ichi; Nonaka, Kazuaki

    2014-01-01

    First branchial arch syndrome is a congenital disorder characterized by a wide spectrum of anomalies in the first branchial arch, mainly affecting the lower jaw, ear, or mouth, during early embryonic development. We sought to confirm a suspected case of this syndrome by making differential diagnosis and taking an intensive clinical approach. A 12-year-6-month-old girl with a horizontally impacted left canine in the maxilla had the history of digital fusion in her hands and feet and has been suffering from hearing impairment of her left ear. To diagnose this case and make her careful treatment plan, we further carried out cephalometric analysis and mutation analysis. Her face looks like asymmetry and is not apparently symmetric by cephalometric analysis. Mutation analysis of the patient was conducted by direct DNA sequencing of the goosecoid gene, which is an excellent candidate for determination of hemifacial microsomia, but no changes in this gene were identified. We could not precisely diagnose this case as first branchial arch syndrome. However, certain observations in this case, including hearing impairment of the left ear, allow us to suspect this syndrome. PMID:24523735

  2. Clinicopathological correlation in a case of painful ophthalmoplegia: Tolosa-Hunt syndrome

    Microsoft Academic Search

    P J Goadsby; J W Lance

    1989-01-01

    A case of painful ophthalmoplegia due to idiopathic granulomatous involvement of the superior orbital fissure (Tolosa-Hunt syndrome) is described. The clinical features of recurrent pain, ocular motor nerve palsies and proptosis correlated well with the eventual demonstration of an enhancing mass in the region of the cavernous sinus. Removal of the lesion led to a resolution of the clinical picture

  3. The Utility of the Expert Witness in a Rape Case: Reconsidering Rape Trauma Syndrome

    Microsoft Academic Search

    Mila Green McGowan; Jeffrey L. Helms

    2003-01-01

    The role of the expert witness in rape cases has been problematic for the courts and profession of psychology for some time. One of the issues that has compounded this problem is the diagnostic nomenclature regarding Rape Trauma Syndrome (RTS) and its differentiation from Post-Traumatic Stress Disorder (PTSD). This article summarizes the issues surrounding the use of RTS in expert

  4. Dyke-Davidoff-Masson syndrome: imaging features with illustration of two cases.

    PubMed

    Arora, Richa; Rani, Jyotsna Y

    2015-06-01

    Dyke-Davidoff-Masson syndrome is a rare entity characterized by hemi cerebral atrophy/hypoplasia secondary to brain insult in fetal or early childhood period along with ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis. We present two cases of this uncommon condition and discuss its imaging features, differential diagnosis, treatment options and prognosis. PMID:26029650

  5. Complete heart block in a patient with POEMS syndrome: A case report

    PubMed Central

    Ashrafi, Farzaneh; Darakhshandeh, Ali; Nematolahy, Pardis; Khosravi, Alireza

    2014-01-01

    BACKGROUND Polyneuropathy, organomegaly, endocrinopathy, monoclonal syndrome (POEMS) is a rare paraneoplastic syndrome associated with plasma cell dyscrasia. CASE REPORT A 48-year-old man presented with a 1-year history of paresthesia and progressive weakness of extremities. Diagnosis of POEMS syndrome was made for him on the basis of clinical presentation, additional physical findings, typical sclerotic bone lesion, and bone marrow findings. In last admission, he explained episodes of dyspnea and chest pain that associated with frequent premature ventricular contraction in his electrocardiograph. Patient heart monitoring showed some episodes of complete heart block. Infra-His atrioventricular block in electro-physiologic study was detected. He had no history of ischemic heart disease. His cardiopulmonary findings on examination were normal. All results of cardiac biomarkers and serum electrolytes and repeated echocardiography were within normal range. Cong red staining of rectal fat pad biopsy was negative. After pacemaker insertion radiation of sclerotic bone, lesion started for him, but radiotherapy was ineffective, and he expired with respiratory failure. Complete heart block in POEMS syndrome has not been reported previously, and it is the first POEMS case with complete heart block. CONCLUSION Complete heart block is a cardiac manifestation of POEMS syndrome. PMID:25477986

  6. Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature.

    PubMed

    Seidowsky, Alexandre; Hoffmann, Maxime; Glowacki, François; Dhaenens, Claire-Marie; Devaux, Jean-Philippe; de Sainte Foy, Celia Lessore; Provot, François; Gheerbrant, Jean-Dominique; Hummel, Aurelie; Hazzan, Marc; Dracon, Michel; Dieux-Coeslier, Anne; Copin, Marie-Christine; Noël, Christian; Buob, David

    2013-12-01

    Renal dysfunction is increasingly recognized as a potential clinical feature of mitochondrial cytopathies such as mitochondrial encephalomyopathy, lacticacidosis and stroke-like episodes (MELAS) syndrome. Five cases of MELAS syndrome with renal involvement from 4 unrelated families are presented in this case series. Three of the 5 patients had a history of maternally-inherited diabetes and/or deafness. Focal and segmental glomerulosclerosis and arteriolar hyaline thickening were the most striking findings on renal biopsy. In addition to clinical presentation with the typical symptoms of MELAS syndrome, genetic testing in these patients identified the A3243G point mutation in the tRNALeu gene of the mitochondrial DNA (mtDNA). The diagnosis of MELAS syndrome was thus considered to be unequivocal. The incidence of kidney disease in MELAS syndrome may be underestimated although a study is required to investigate this hypothesis. As the A3243G mtDNA mutation leads to a progressive adult-onset form of focal segmental glomerulosclerosis (FSGS), screening for the MELAS A3243G mtDNA mutation should therefore be performed especially in patients with maternally-inherited diabetes or hearing loss presenting with FSGS. PMID:22909780

  7. Case of inappropriate ADH syndrome: Hyponatremia due to polyethylene glycol bowel preparation

    PubMed Central

    Ko, Sun-Hye; Lim, Chul-Hyun; Kim, Jae-Young; Kang, Seung Hun; Baeg, Myong Ki; Oh, Hyun Jin

    2014-01-01

    Colonoscopic screening has been reported to reduce deaths from colorectal cancer. Adequate bowel preparation is essential for this and safety is an important issue in choosing the methods. Polyethylene glycol (PEG) is regarded as a safe method for cleansing, especially compared with oral sodium phosphate. Here, we present a case of hyponatremia caused by the syndrome of inappropriate antidiuretic hormone (ADH) syndrome after PEG precolonoscopic cleansing resulting in generalized tonic-clonic seizures. A 62-year-old women had ingested PEG for precolonoscopic bowel cleansing. While waiting for the colonoscopy, she developed a stuporous mentality and generalized tonic-clonic seizures, which did not correlate with brain magnetic resonance imaging. Her serum sodium level was 113 mEq per liter and laboratory analyses were consistent with inappropriate ADH syndrome. Her thyroid and adrenal functions were normal. There were no malignancies, infections, respiratory disorders or central nervous disorders and she had no history of taking either diuretics or other medications, which might have caused inappropriate ADH syndrome. She was treated with 3% hypertonic saline and showed a complete neurological recovery as her sodium levels recovered. Follow-up visits showed the patient to have a normal sodium level without neurologic deficits. This case shows that inappropriate ADH syndrome can be caused by PEG preparation, which implies that physicians have to be aware of the possible side effects of this colonic cleansing approach and mindful of the possible ensuing symptoms. PMID:25232272

  8. Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report.

    PubMed

    Meena, Jagdish P; Gupta, Ajay; Mishra, Devendra; Juneja, Monica

    2015-05-01

    Beals syndrome is an autosomal-dominant connective tissue disorder, characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, crumpled ear, and muscular hypoplasia. It has similarities to Marfan syndrome (MFS) in many respects. It has much fewer incidences of eye and heart anomalies compared with MFS. Beals syndrome is caused by a mutation in the fibrillin-2 gene (FBN2) in 5q23; MFS is caused by mutations in fibrillin-1. With time, there is spontaneous improvement in joint contractures, but kyphosis tends to be progressive. The neonatal form results from new mutations and tends to be severe. Prenatal molecular diagnosis is possible. Ultrasound could be used to demonstrate hypokinesia and joint contractures in presumptive cases. We present a case of a patient with Beals syndrome who presented to the emergency department with pneumonia and was found to have narrowing of the foramen magnum, with partial fusion of C2-C3 vertebral bodies. To our knowledge, this has not been documented in the literature and could be characteristic in relation to Beals syndrome. PMID:25493702

  9. Capgras Syndrome in a Patient with Parkinson's Disease after Bilateral Subthalamic Nucleus Deep Brain Stimulation: A Case Report.

    PubMed

    Kyrtsos, Christina Rose; Stahl, Mark C; Eslinger, Paul; Subramanian, Thyagarajan; Lucassen, Elisabeth B

    2015-01-01

    Capgras syndrome is a delusional misidentification syndrome (DMS) which can be seen in neurodegenerative diseases such as Lewy body dementia and, to a lesser extent, in Parkinson's disease (PD). Here, we report the case of a 78-year-old man with a history of idiopathic PD who developed Capgras syndrome following bilateral subthalamic nucleus deep brain stimulation (DBS) implantation. As the risk of DMS has been related to deficits in executive, memory, and visuospatial function preoperatively, this case highlights the importance of continuing to improve patient selection for DBS surgery. Capgras syndrome is a rare potential complication of DBS surgery in PD patients with preexisting cognitive decline. PMID:26078747

  10. Capgras Syndrome in a Patient with Parkinson's Disease after Bilateral Subthalamic Nucleus Deep Brain Stimulation: A Case Report

    PubMed Central

    Kyrtsos, Christina Rose; Stahl, Mark C.; Eslinger, Paul; Subramanian, Thyagarajan; Lucassen, Elisabeth B.

    2015-01-01

    Capgras syndrome is a delusional misidentification syndrome (DMS) which can be seen in neurodegenerative diseases such as Lewy body dementia and, to a lesser extent, in Parkinson's disease (PD). Here, we report the case of a 78-year-old man with a history of idiopathic PD who developed Capgras syndrome following bilateral subthalamic nucleus deep brain stimulation (DBS) implantation. As the risk of DMS has been related to deficits in executive, memory, and visuospatial function preoperatively, this case highlights the importance of continuing to improve patient selection for DBS surgery. Capgras syndrome is a rare potential complication of DBS surgery in PD patients with preexisting cognitive decline. PMID:26078747

  11. A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report

    PubMed Central

    Ersoy, Özdal; Alk?m, Canan; Onuk, Mehmet Derya; Demirsoy, Hüseyin; Argon, Dilek

    2011-01-01

    Chanarin-Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries. Here, we report a 20-year-old patient with ichthyosis from Turkey, diagnosed as Chanarin-Dorfman syndrome presented with asypmtomatic elevated transaminases and hepatosteatosis, and also briefly review the updated clinical implications and management of this rarely seen syndrome. Prompt diagnosis of this syndrome avoids further unnecessary investigations in patients with ichthyosis PMID:21994851

  12. Guillain-Barré syndrome in northern China. The spectrum of neuropathological changes in clinically defined cases.

    PubMed

    Griffin, J W; Li, C Y; Ho, T W; Xue, P; Macko, C; Gao, C Y; Yang, C; Tian, M; Mishu, B; Cornblath, D R

    1995-06-01

    The pathology of the Guillain-Barré syndrome remains controversial, and autopsied cases available for study by contemporary techniques are uncommon. Large numbers of cases clinically diagnosed as Guillain-Barré syndrome occur in northern China. In this study we examined the neuropathological changes in 12 autopsied cases from Hebei Province, China. Eleven died early in the course of their disease. In all cases tissue was specially handled and fixed for electron microscopy and for immunocytochemistry. Three of these 12 cases had typical acute inflammatory demyelinating polyneuropathy (AIDP) with lymphocytic infiltration and macrophage-mediated demyelination, reproducing the pathological picture most often reported in Guillain-Barré syndrome in North America, Europe, and Australia. Six cases had predominantly axonal involvement, characterized by Wallerian-like degeneration of nerve fibres, with only minimal demyelination and with minimal inflammation in five. Three cases, even though paralysed at the time of death, had only very mild changes in the spinal roots and sciatic nerves. Within the group of six predominantly axonal cases, there were important differences both in the severity of the abnormalities and in the classes of fibres involved. Three cases had extensive Wallerian-like degeneration of sensory as well as motor fibres [acute motor-sensory axonal neuropathy (AMSAN)], while in the other three cases the fibre degeneration affected the motor nerve fibres almost exclusively. These latter cases establish a structural basis for the clinical and electrophysiological picture termed the acute motor axonal neuropathy (AMAN) pattern. In both the AMAN and the AMSAN patterns, a prominent feature was the presence of macrophages within the periaxonal space, surrounding or displacing the axon, and surrounded by an intact myelin sheath. These studies show that the early pathological changes in cases clinically diagnosed as the Guillain-Barré syndrome are diverse and not restricted to the well-known pattern of AIDP, and that the predominant pathological patterns may differ in different parts of the world. The differences in pathological findings between acute inflammatory demyelinating polyneuropathy and the axonal patterns are likely to reflect differences in the pathogenetic mechanisms. The periaxonal macrophages in the axonal patterns suggest that an important epitope may be localized to the axolemma or periaxonal space. The mild cases indicate that severe paralysis can occur early in Guillain-Barré syndrome without prominent structural changes along the nerve, suggesting that physiological block or nerve terminal changes may be implicated. PMID:7600080

  13. An intractable case of Hermansky-Pudlak syndrome.

    PubMed

    Kanazu, Masaki; Arai, Toru; Sugimoto, Chikatoshi; Kitaichi, Masanori; Akira, Masanori; Abe, Yuko; Hozumi, Yutaka; Suzuki, Tamio; Inoue, Yoshikazu

    2014-01-01

    A 52-year-old Japanese man with congenital amblyopia and oculocutaneous albinism was admitted to our hospital. Chest CT showed reticular opacities and traction bronchiectasis without honeycombing. Specimens obtained by a video-assisted thoracoscopic surgery showed patchy chronic fibrotic lesions. We diagnosed him with Hermansky-Pudlak syndrome (HPS). A mutation in the HPS1 gene was detected, and the diagnosis was confirmed. The patient was treated with prednisolone, pirfenidone, and azathioprine, but he nevertheless died within four months. Autopsy lung specimens showed diffuse alveolar damage suggesting comparatively rapid deterioration, although this presentation was not typical of an acute exacerbation. These pathological changes may be a possible progression pattern in HPS patients. PMID:25400188

  14. Case of Isaacs syndrome successfully treated with phenytoin.

    PubMed

    Chang, Y J; Wu, C L; Chen, R S; Lu, C S

    1993-11-01

    We herein report on an 18-year-old Taiwanese man who developed acute onset of generalized continuous contractions of the muscles. The involuntary cramps caused a dystonic posture of the neck and limbs. Opisthotonos was noted when the cramps were exacerbated. The cramps were painful and sensitive to movement, so the patient limited movement of his body. External stimulation, such as a pin prick or a loud noise, would aggravate them. The contractions of the muscles persisted during sleep. No other neurologic abnormalities were noted. Electromyography showed spontaneous continuous muscle fiber activity. The symptoms did not respond to baclofen or diazepam; however, remarkable improvement was noted after giving phenytoin. The clinical presentation, electromyographic findings, and the patient's beneficial response to phenytoin fulfilled the diagnostic characteristics of Isaacs syndrome. PMID:7910059

  15. [Scimitar syndrome associated to pulmonary atresia with interventricular communication. First reported case].

    PubMed

    Alva, Carlos; Valero, Gillermo; Martínez, Arturo; Riera, Carlos; David, Felipe; Jiménez, Santiago; Ortegón, José; Sánchez, Agustín; López, Diana; Ramírez, Erick

    2004-01-01

    We present the case of a 15 months-old male with Scimitar Syndrome associated with ventricular septal defect and pulmonary atresia. The diagnosis was made by cardiac catheterization and angiography and was confirmed by the necropsy. Clinical and surgical considerations of this exceptional association were made. To the best of our knowledge this is the first case reported in the relevant literature. PMID:15709508

  16. A Case of Parinaud’s Syndrome in a Boy with Delayed Puberty

    Microsoft Academic Search

    A. Magli; R. De Marco; S. Di Maio; L. Nunziata; S. Villani; P. L. L. Calace

    1991-01-01

    The authors describe a case of Parinaud’s syndrome in a 14-year-old boy with delayed puberty. The neurological examination and the neuroradiological work-up excluded the presence of cerebral pathological processes except for a pituitary microadenoma. As the sole presence of the microadenoma cannot justify gonadotropin deficiency, the authors in this case favor a form of isolated gonadotropin deficiency, and they suggest

  17. Ramsay-Hunt syndrome complicating osteonecrosis of edentulous maxilla and mandible: report of a rare case

    Microsoft Academic Search

    Samprati J. Badjate; K. M. Cariappa; S. R. Shenoi; Shweta Nakhate

    2009-01-01

    Review of literature revealed atleast 30 cases of post herpes zoster osteonecrosis of maxilla or mandible. To our knowledge\\u000a this is a first reported case of Ramsay-Hunt syndrome with post herpetic neuralgia and post herpes zoster osteonecrosis of\\u000a edentulous maxilla and mandible. We have briefly reviewed the pathophysiology and management of post herpes zoster osteonecrosis\\u000a and post herpetic neuralgia.

  18. A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy

    Microsoft Academic Search

    Yasuhiko Tachibana; Noriko Aida; Keisuke Enomoto; Mizue Iai; Kenji Kurosawa

    We present a 5-year-old girl who was ultimately diagnosed with Sjögren-Larsson syndrome (SLS). Although her MRI findings were\\u000a minimal compared to previously published cases, prominent and characteristic abnormal lipid peaks on single-voxel proton MR\\u000a spectroscopy (1H-MRS) facilitated the diagnosis. This case emphasizes the importance and usefulness of 1H-MRS in diagnosing SLS.

  19. Copperhead Envenomation Resulting in a Rare Case of Hand Compartment Syndrome and Subsequent Fasciotomy

    PubMed Central

    Brys, Adam K.; Gandolfi, Brad M.; Gerardo, Charles J.

    2015-01-01

    Summary: Copperhead bites account for nearly 40% of all snakebites in the United States. Although common, these bites are rarely severe, and most are treated with supportive care and antivenom. We describe the first reported case of a copperhead envenomation resulting in a hand compartment syndrome with measured elevated compartment pressures that necessitated fasciotomy of the hand. Our case underscores the importance of vigilance in the diagnosis and management of copperhead envenomation. PMID:26090286

  20. A rare case of oesophageal rupture: Boerhaave's syndrome.

    PubMed

    van der Weg, Gerben; Wikkeling, Marald; van Leeuwen, Maarten; Ter Avest, Ewoud

    2014-01-01

    A 70-year-old patient was referred to our emergency department with severe retrosternal pain after forceful vomiting. Computed tomography (CT) scan revealed a left-sided oesophageal rupture with accompanying pneumomediastinum and bilateral pleural effusions. Conservative treatment with cessation of oral intake, intravenous broad-spectrum antibiotics, parenteral fluids and nutrition and left sided tube thoracostomy was initiated initially. After 5 days, however, the patient deteriorated. Follow-up CT scan demonstrated a mediastinal fluid collection as well as loculated pleural empyema. Open thoracotomy with mediastinal debridement and pleural drainage was performed, after which he made a slow but full recovery. Spontaneous oesophageal rupture due to an abrupt rise in intraluminal pressure caused by vomiting is also known as Boerhaave's syndrome. It is a rare but potentially life-threatening condition. Many patients present with atypical symptoms, and therefore, physicians should have a high index of suspicion in any patient presenting with vomiting and retrosternal pain. When Boerhaave's syndrome is suspected, a CT scan of the thorax and upper abdomen should be performed since treatment depends on clinical and radiological findings. Conservative management (cessation of oral intake, nasogastric decompression, administration of intravenous fluids and parenteral nutrition, intravenous broad-spectrum antibiotics and proton pump inhibitors and tube thoracostomies) may only be considered in patients with a contained rupture without systematic symptoms of infection. In these patients, endoscopic bridging of the tear with a self-expandable stent is also an option. Primary surgical repair (either by thoracotomy or by video assisted thoracoscopy (VATS)) should be considered when patients present with sepsis and/or large non-contained leaks or with severe mediastinal decontamination. PMID:25364474

  1. A rare case of oesophageal rupture: Boerhaave's syndrome

    PubMed Central

    2014-01-01

    A 70-year-old patient was referred to our emergency department with severe retrosternal pain after forceful vomiting. Computed tomography (CT) scan revealed a left-sided oesophageal rupture with accompanying pneumomediastinum and bilateral pleural effusions. Conservative treatment with cessation of oral intake, intravenous broad-spectrum antibiotics, parenteral fluids and nutrition and left sided tube thoracostomy was initiated initially. After 5 days, however, the patient deteriorated. Follow-up CT scan demonstrated a mediastinal fluid collection as well as loculated pleural empyema. Open thoracotomy with mediastinal debridement and pleural drainage was performed, after which he made a slow but full recovery. Spontaneous oesophageal rupture due to an abrupt rise in intraluminal pressure caused by vomiting is also known as Boerhaave's syndrome. It is a rare but potentially life-threatening condition. Many patients present with atypical symptoms, and therefore, physicians should have a high index of suspicion in any patient presenting with vomiting and retrosternal pain. When Boerhaave's syndrome is suspected, a CT scan of the thorax and upper abdomen should be performed since treatment depends on clinical and radiological findings. Conservative management (cessation of oral intake, nasogastric decompression, administration of intravenous fluids and parenteral nutrition, intravenous broad-spectrum antibiotics and proton pump inhibitors and tube thoracostomies) may only be considered in patients with a contained rupture without systematic symptoms of infection. In these patients, endoscopic bridging of the tear with a self-expandable stent is also an option. Primary surgical repair (either by thoracotomy or by video assisted thoracoscopy (VATS)) should be considered when patients present with sepsis and/or large non-contained leaks or with severe mediastinal decontamination. PMID:25364474

  2. A Paraneoplastic Syndrome Characterized by Extremity Swelling with Associated Inflammatory Infiltrate Heralds Aggressive Transformation of Myelodysplastic Syndromes/Myeloproliferative Neoplasms to Acute Myeloid Leukemia: A Case Series

    PubMed Central

    Mangan, James K.; Luger, Selina M.

    2012-01-01

    There has been a long history of reports describing a variety of paraneoplastic phenomena associated with myelodysplastic syndromes, particularly those with autoimmune manifestations. We report here a series of patients with an antecedent myelodysplastic syndrome (MDS) or myeloproliferative neoplasm (MPN) that underwent aggressive transformation to acute myeloid leukemia (AML). In each case, the transformation to AML was preceded by an inflammatory syndrome characterized by unilateral extremity swelling and an associated inflammatory skin infiltrate, as well as other signs of inflammation, including profound hyperferritinemia without evidence of a hemophagocytic syndrome. We suggest that such an inflammatory syndrome may herald aggressive transformation of MDS/MPN to AML. Patients with known MDS/MPN who present with these features may benefit from early bone marrow examination to assess disease status. Early intervention with corticosteroids in select patients may result in improvement or resolution of the symptoms and permit intensive therapy for AML to be delivered. PMID:22928125

  3. The Primary Cilium as the Cell's Antenna: Signaling at a Sensory Organelle

    NSDL National Science Digital Library

    Veena Singla (University of California; Program in Developmental and Stem Cell Biology, and Diabetes Center)

    2006-08-04

    This article discusses emerging evidence showing that primary cilia are key participants in intercellular signaling. Almost every vertebrate cell has a specialized cell surface projection called a primary cilium. Although these structures were first described more than a century ago, the full scope of their functions remains poorly understood. Here, we review emerging evidence that in addition to their well-established roles in sight, smell, and mechanosensation, primary cilia are key participants in intercellular signaling. This new appreciation of primary cilia as cellular antennae that sense a wide variety of signals could help explain why ciliary defects underlie such a wide range of human disorders, including retinal degeneration, polycystic kidney disease, Bardet-Biedl syndrome, and neural tube defects.

  4. Aldosterone deficiency after unilateral adrenalectomy for Conn’s syndrome: a case report and literature review

    PubMed Central

    Yorke, Ekua; Stafford, Sara; Holmes, Daniel; Sheth, Sachiv; Melck, Adrienne

    2015-01-01

    Introduction Approximately 35% of cases of Conn’s syndrome (primary aldosteronism) result from a solitary functioning adrenal adenoma, and these patients are best managed by adrenalectomy. Postoperative hypoaldosteronism after unilateral adrenalectomy is uncommon. Case presentation We present a case and literature review of hypoaldosteronism after unilateral adrenalectomy for Conn’s syndrome, which demonstrates the insidious and sometimes delayed presentation. Discussion In this clinical case we summarize the previously published cases of post-adrenalectomy hypoaldosteronism based on a PUBMED and EBSCOhost search of all peer-reviewed publications (original articles and reviews) on this topic. A few cases of aldosterone insufficiency post-adrenalectomy for Conn’s syndrome were identified. The etiological factors for prolonged selective suppression of aldosterone secretion after unilateral adrenalectomy remain unclear. Conclusion It is important to be aware of the risk of postoperative hypoaldosteronism in this patient population. Close postoperative follow-up is necessary and strongly recommended, especially in patients with certain risk factors. Patients may need mineralocorticoid supplementation during this period. PMID:25604311

  5. Poland’s Syndrome: Different Clinical Presentations and Surgical Reconstructions in 18 Cases

    Microsoft Academic Search

    Renato da Silva Freitas; André Ricardo Dall’Oglio Tolazzi; Vanessa Dello Mônaco Martins; Breno Albuquerque Knop; Ruth Maria Graf; Gilvani Azor de Oliveira e Cruz

    2007-01-01

    Background  The literature reports many variations of Poland’s syndrome. This article describes 18 cases of Poland’s syndrome in different\\u000a stages of treatment, with variable clinical presentations and reconstructive techniques.\\u000a \\u000a \\u000a \\u000a Methods  This study evaluated 15 females and 3 males, ages 2 to 43 years, for breast deformity, nipple–areolar complex position, pectoralis\\u000a muscle malformation, thoracic deformities, and the presence of brachysyndactyly. Surgical treatment was

  6. Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome

    PubMed Central

    Massard, Christophe; Carton, Edith; Longchampt, Elisabeth; Faudot, Tiffany; Lamoril, Jérôme; Ferlicot, Sophie

    2014-01-01

    Patients with the Birt-Hogg-Dubé cancer susceptibility syndrome are at high risk of developing renal cell carcinoma, pulmonary cysts and pneumothorax, and skin lesions called fibrofolliculomas. Here we report the case of a Birt-Hogg-Dubé patient with a primary clear cell carcinoma of the thyroid (a very rare type of thyroid cancer), and FLCN loss of heterozygosity within the tumour, providing molecular evidence for this association. Our findings expand the tumour spectrum associated with this syndrome. It is paramount to identify individuals with Birt-Hogg-Dubé so that they, and subsequently their affected relatives, can benefit from tailored cancer screening and prevention. PMID:25254107

  7. Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome.

    PubMed

    Benusiglio, Patrick R; Gad, Sophie; Massard, Christophe; Carton, Edith; Longchampt, Elisabeth; Faudot, Tiffany; Lamoril, Jérôme; Ferlicot, Sophie

    2014-01-01

    Patients with the Birt-Hogg-Dubé cancer susceptibility syndrome are at high risk of developing renal cell carcinoma, pulmonary cysts and pneumothorax, and skin lesions called fibrofolliculomas. Here we report the case of a Birt-Hogg-Dubé patient with a primary clear cell carcinoma of the thyroid (a very rare type of thyroid cancer), and FLCN loss of heterozygosity within the tumour, providing molecular evidence for this association. Our findings expand the tumour spectrum associated with this syndrome. It is paramount to identify individuals with Birt-Hogg-Dubé so that they, and subsequently their affected relatives, can benefit from tailored cancer screening and prevention. PMID:25254107

  8. A case of acute tarsal tunnel syndrome following lateralizing calcaneal osteotomy.

    PubMed

    Walls, Raymond J; Chan, Jeremy Y; Ellis, Scott J

    2015-03-01

    Surgical correction of hindfoot varus is frequently performed with a lateral displacement calcaneal osteotomy. It has rarely been associated with iatrogenic tarsal tunnel syndrome in patients with pre-existing neurological disease. We report the first case of acute postoperative tarsal tunnel syndrome in a neurologically intact patient with post-traumatic hindfoot varus. Early diagnosis and emergent operative release afforded an excellent clinical outcome. Imaging studies can help outrule a compressive hematoma and assess for possible nerve transection; however it is paramount that a high index of suspicion is utilized with judicious operative intervention to minimize long-term sequelae. PMID:25682414

  9. Mayer-Rokitansky-Küster-Hauser syndrome accompanied by renal cell carcinoma: a case report.

    PubMed

    Mermerkaya, Murat; Burgu, Berk; Hamidi, Nurullah; Yüksel, Seher; Özçakar, Zeynep B; Sertçelik, Ay?e; Yalçinkaya, Fato?; Soygür, Tarkan

    2013-10-01

    Mayer-Rokitansky-Küster-Hauser anomaly originates from agenesis of the Müllerian duct including agenesis of the uterus and the vagina because of abnormal development of the uterine ducts. This syndrome may be accompanied by the upper urinary tract anomalies such as unilateral renal agenesis, ectopia of 1 or both kidneys, renal hypoplasia, horseshoe kidney, and hydronephrosis. We report a 16-year-old girl, with unilateral renal agenesis, herniating ovary, and renal cell carcinoma in her solitary kidney, associated with Mayer-Rokitansky-Küster-Hauser syndrome-the first case in the literature to our knowledge. PMID:23042009

  10. Periodontal disease in a patient with Prader-Willi syndrome: a case report

    Microsoft Academic Search

    Manabu Yanagita; Hiroyuki Hirano; Mariko Kobashi; Takenori Nozaki; Satoru Yamada; Masahiro Kitamura; Shinya Murakami

    2011-01-01

    Introduction  Prader-Willi syndrome is a complex genetic disease caused by lack of expression of paternally inherited genes on chromosome\\u000a 15q11-q13. The prevalence of Prader-Willi syndrome is estimated to be one in 10,000 to 25,000. However, descriptions of the\\u000a oral and dental phenotype are rare.\\u000a \\u000a \\u000a \\u000a \\u000a Case presentation  We describe the clinical presentation and periodontal findings in a 20-year-old Japanese man with previously diagnosed

  11. Superior mesenteric artery syndrome after blunt abdominal trauma: a case report.

    PubMed

    Falcone, John L; Garrett, Kevin O

    2010-07-01

    Superior mesenteric artery (SMA) syndrome is a rare cause of bowel obstruction. It is characterized anatomically by a narrowed aortomesenteric angle, causing a mechanical obstruction at the third portion of the duodenum. Patients usually present after prolonged confinement in the supine position, significant acute weight loss, application of body casts, and severe burns with symptoms of a small bowel obstruction. We present the case of a healthy 22-year-old male athlete with SMA syndrome that occurred after blunt abdominal injury in the setting of mild chronic weight loss; he was treated nonoperatively. PMID:20484075

  12. Cowden Syndrome: report of a case and brief review of literature*

    PubMed Central

    Porto, Ana Carolina Souza; Roider, Elisabeth; Ruzicka, Thomas

    2013-01-01

    We present the case of a female patient with facial cutaneous lesions, a cobblestone-like pattern of the oral mucosa, and verruciform lesions on the hand since her youth. She reported a history of breast cancer, endometrial cancer, melanoma and multiple benign tumors and cysts. PTEN gene analysis was performed and confirmed Cowden Syndrome, a rare genodermatosis with an autosomal dominant pattern of inheritance, characterized by multiple hamartomas. The phosphatase and tensin homolog (PTEN) gene negatively regulates cell proliferation and cell cycle progression. Loss of PTEN function contributes to an increased risk of cancer. We emphasize the importance of early detection and accurate management of Cowden Syndrome. PMID:24346879

  13. Case report: congenital rubella syndrome: a rare but persistent concern in the United States.

    PubMed

    Fang, J; Agrawal, A; Gowtham, S; Felling, R J; Jalazo, E; Park, H-J S; Valsamakis, A; Huisman, T A G M; Golden, W C

    2013-11-01

    In countries such as the United States where rubella virus infections are rare, congenital rubella syndrome (CRS) may not be recognized in a timely manner. However, the syndrome still appears in this country, often in infants of mothers emigrating from countries with absent or suboptimal national vaccination programs. We describe a case of CRS in a term baby born to a recent US immigrant who developed a primary varicella infection in late pregnancy and demonstrated IgG titers to rubella at delivery. At presentation, the neonate had both classical findings as well as less reported vascular and neurological abnormalities seen in infants with CRS. PMID:24169928

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

    PubMed

    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. PMID:25566737

  15. An intensive care approach to posterior reversible encephalopathy syndrome (PRES): An analysis of 7 cases

    PubMed Central

    Demirel, ?smail; Kavak, Burçin Salih; Özer, Ay?e B.; Bayar, Mustafa K.; Erhan, Ömer L.

    2014-01-01

    Objective The aim of this study was to retrospectively evaluate the intensive care unit treatments applied to obstetrics patients with a diagnosis of posterior reversible encephalopathy syndrome (PRES). Material and Methods The cases of 7 pregnant patients who had been diagnosed with PRES between July 2011 and July 2013 were retrospectively reviewed. The patients’ clinical data, brain magnetic resonance imaging (MRI) images before and after treatment, and neuropsychological tests were evaluated. Results Five out of 7 patients had eclampsia, 1 patient had severe preeclampsia, and 1 patient developed HELLP syndrome secondary to PRES. Calcium channel blockers and ?-blockers were used as antihypertensive treatment. All patients were treated with parenteral magnesium sulfate. In addition, sodium thiopental was given to control sedation and convulsions in all patients except 1. The neurological and radiological findings of all cases treated in the intensive care unit improved. Conclusion Posterior reversible encephalopathy syndrome is a clinical condition with a multifactorial etiology and can result in different clinical findings. Radiological imaging techniques can be used for the diagnosis of PRES. Pregnancy and the postpartum period often lead to this syndrome. In some cases, PRES can cause irreversible neurological deficits or death. For patients with severe radiological findings, early diagnosis and thiopental infusion, in addition to treatment with antihypertensive agents and magnesium sulfate, may lead to quicker and more effective recovery from clinical manifestations. We suggest supplementation of standard treatment with early thiopental infusion. PMID:25584029

  16. BAP1 hereditary cancer predisposition syndrome: a case report and review of literature.

    PubMed

    Klebe, Sonja; Driml, Jack; Nasu, Masaki; Pastorino, Sandra; Zangiabadi, Amirmasoud; Henderson, Douglas; Carbone, Michele

    2015-01-01

    A 72-year-old woman was diagnosed with uveal melanoma, peritoneal mesothelioma and a primary biliary tract adenocarcinoma. She had a strong family history of mesothelioma as well as other malignancies including renal cell carcinoma. The recently described BAP1 hereditary cancer predisposition syndrome was suspected, but immunohistochemical labeling was not conclusive. Genetic testing confirmed a novel and unusual germline mutation in the ubiquitin hydrolase domain of the BAP1 gene (p.Tyr173Cys) and the patient was diagnosed with the BAP1 hereditary cancer predisposition syndrome. This case demonstrates the importance of clinically recognizing this rare syndrome and its manifestations, some which are still being characterized. It also highlights the importance of genetic testing in cases where there is a high clinical suspicion, even when screening tests, such as immunohistochemistry, in this case, are inconclusive. The diagnosis of a germline BAP1 mutation may have important implications for both the patient and their families with regards to further genetic testing and active surveillance programs. Further research is needed to fully understand the extent and clinical implications of this rare cancer syndrome. PMID:26140217

  17. Trigeminal trophic syndrome: report of a case and review of the published work.

    PubMed

    Sawada, Takahiro; Asai, Jun; Nomiyama, Tomoko; Masuda, Koji; Takenaka, Hideya; Katoh, Norito

    2014-06-01

    Trigeminal trophic syndrome is a rare complication of trigeminal nerve injury that causes facial ulceration, anesthesia and paresthesia in the same trigeminal dermatomes. We present a case of a 65-year-old woman with a history of meningioma resection 18 years prior who presented 16 years later with an intractable ulceration around her left nasolabial sulcus. Pain and light-touch sensations around the ulcer were decreased. She admitted to frequent manipulation due to a crawling sensation. A skin biopsy showed acanthotic changes and a decreased number of peripheral nerve fibers. Trigeminal trophic syndrome was diagnosed. Carbamazepine was not effective, and the ulcer persisted at 7 months after the initial presentation. We reviewed 36 English-language publications from 2003 to 2012, and analyzed 61 cases of trigeminal trophic syndrome, including this patient. The mean age was 53.3 ± 19.7 years (range, 6-91). The right side of the face was more commonly affected (57%) than the left side. The ala nasi were involved in 48 cases (79%), followed by the cheek in 17 cases (28%). A corneal lesion was observed in 11 cases (18%), suggesting the importance of ophthalmologic consultations. The two major etiologies were trigeminal nerve ablation (18 cases; 30%) and cerebrovascular accidents (18 cases; 30%). The latent period ranged from days to 30 years. Gabapentin and carbamazepine were frequently administrated with variable efficacy. Application of thermoplastic dressings or negative pressure wound therapy demonstrated favorable outcomes. Surgery was an option with a high recurrence rate. Trigeminal trophic syndrome remains a clinical challenge. PMID:24807466

  18. Organic Depression and Terson's Syndrome in Adult Polycystic Kidney Disease: Case Report and Review of Literature

    PubMed Central

    Kulkarni, Ranganath R.; Addagadde, Pradeep V.

    2014-01-01

    Depressive symptoms are common in neurological diseases, at times posing dilemma in organic or functional origin. Cerebrovascular disease may predispose, precipitate, or perpetuate some geriatric depressive syndromes that resemble primary depressions both clinically and therapeutically in about half of the patients following acute stroke. Terson's syndrome is the direct occurrence of vitreous hemorrhage following subarachnoid/subdural hemorrhage, often overlooked in the acute setting. Autosomal dominant (adult) polycystic kidney disease may be associated with berry aneurysms and hypertension, and may lead to intracranial bleeds. We report an unusual case of organic depression and Terson's syndrome in a 50-year-old female with polycystic kidney disease and hypertension, following anterior communicating artery aneurysmal subarachnoid bleed with bilateral subdural extension. Management included anti-hypertensives, antiepileptics, neodymium: YAG laser photocoagulation, and aneurysmal clipping. PMID:24701022

  19. Juvenile polyposis with macrocephaly and mental retardation (? Ruvalcava-Myhre-Smith syndrome)--a case report.

    PubMed

    Nandini, N M; Singh, Th Bipin; Kumar, Anil; Nandeesh

    2004-07-01

    A male child aged one and a half years with a history of rectal bleeding, on examination was found to have severe degree of anaemia with grade -III protein-energy-malnutrition and pneumonia. Colonoscopy revealed features of colonic polyposis. An upper gastro-intestinal endoscopy showed a duodenal polyp while barium meal follow-through did not reveal any polyps in the small intestine. Total colectomy and ileo-rectal anastomosis was done. Following histopathological study, the diagnosis of Juvenile polyposis syndrome was made, a very rare entity and is known to lead to adenocarcinoma of the gastrointestinal tract. In addition the child was found to have macrocephaly and mental retardation. The rarity and importance of the diagnosis of juvenile polyposis syndrome associated with macrocephaly and mental retardation (?Ruvalcava-Myhre-Smith syndrome) prompted the documentation of this case. PMID:16295443

  20. Multiple oral fibropapillomatosis as an initial manifestation of Cowden Syndrome. Case report.

    PubMed

    Capitán Cañadas, Luis Miguel; Salinas Sánchez, José Luis; Martínez Castillo, Sergio Luis; Labrot Moleón, Ildefonso Leopoldo; Durán Moreno, David; Sánchez López, Darío; Valencia Laseca, Eduardo

    2006-07-01

    Cowden syndrome is a rare hereditary disease included within hamartoma-type gastrointestinal polyposis. It is characterised by associated mucocutaneous anomalies and by the extraordinary tendency to develop malignant neoplasia, mainly in the breast and thyroid. Early diagnosis of the syndrome and adequate tumoral screening in patients with mucocutaneous papillomatosis make it possible to make an earlier diagnosis of associated pathologies which have great morbidity when detected late. We present the case of a patient diagnosed with Cowden syndrome after consultation for labial papillomatous lesions of long evolution who was subsequently treated for breast and kidney cancer in initial stages. The correct diagnosis of a banal pathology of oral mucosa made it possible for us to take early action against the neoplastic pathology associated with this disease. PMID:16816815

  1. Adrenal insufficiency after recurrent post-partum thyroiditis (post-partum Schmidt syndrome): a case report.

    PubMed

    Mehta, H; Badenhoop, K; Walfish, P G

    1998-03-01

    Polyglandular autoimmune syndrome (PGAS) type 2 (Schmidt syndrome) is characterized by the association of primary adrenocortical insufficiency with autoimmune thyroid disease, and/or insulin-dependent diabetes mellitus (IDDM). In this report we describe the occurrence of two episodes of post-partum thyroiditis (PPT) after a first and second pregnancy as well the development acutely of adrenal insufficiency after a second pregnancy. A family history of autoimmune thyroid disease and IDDM as well as positive antiadrenal and antithyroid antibodies and HLA typing is evidence for an underlying polyendocrine autoimmune syndrome. This case report provides further evidence that the immune system that is suppressed in pregnancy to tolerate the fetal allograft can rebound post-partum to unmask polyendocrine autoimmune disorders such as adrenalitis and PPT in susceptible women. PMID:9545115

  2. Bronchiolitis obliterans associated with Stevens-Johnson syndrome: a case report.

    PubMed

    Park, Hyungchul; Ko, Young Bo; Kwon, Hyouk-Soo; Lim, Chae-Man

    2015-03-01

    We report a case of bronchiolitis obliterans associated with Stevens-Johnson syndrome. A 59-year-old man presented with respiratory distress that gradually worsened over 3 months. He had been diagnosed with Stevens-Johnson syndrome 3 months before admission. He had no history of previous airway disease. On physical examination, expiratory breathing sounds were not audible, and a chest X-ray revealed a hyperinflated lung. A pulmonary function test indicated a severe obstructive pattern. Computed tomography scans of inspiratory and expiratory phases of respiration showed oligemia and air trapping, and both were more prominent on expiration view than on inspiration view. The pathogenesis of bronchiolitis obliterans associated with Stevens-Johnson syndrome is largely unknown. PMID:25684012

  3. Reverse or inverted apical ballooning in a case of refeeding syndrome.

    PubMed

    Robles, Pablo; Monedero, Isabel; Rubio, Amador; Botas, Javier

    2015-06-26

    Takotsubo cardiomyopathy is characterized by the development of transient left ventricular regional wall motion abnormalities, in the absence of significant coronary artery obstruction. This syndrome usually occurs in women and is frequently associated with an intense emotional or physical stress. It usually involves apical segments, but in the recent years atypical forms have been described. Inverted or reverse Takotsubo is a variant in which the basal and midventricular segments are hypokinetic, sparing contractile function of the apex. In this report we describe the case of a 54-year-old woman, with chronic malnutrition, initially admitted because of hypoglycemia and severe electrolyte disturbance due to a refeeding syndrome. Within the next hours she experienced acute cardiac symptoms and developed heart failure with low cardiac output. Electrocardiogram (ECG), elevation of troponin and echocardiographic findings were consistent with inverted Takotsubo cardiomyopathy. To the best of our knowledge, this is the first incidence reported of inverted Takotsubo triggered by refeeding syndrome. PMID:26131342

  4. Bronchiolitis Obliterans Associated with Stevens-Johnson Syndrome: A Case Report

    PubMed Central

    Park, Hyungchul; Ko, Young Bo; Kwon, Hyouk-Soo

    2015-01-01

    We report a case of bronchiolitis obliterans associated with Stevens-Johnson syndrome. A 59-year-old man presented with respiratory distress that gradually worsened over 3 months. He had been diagnosed with Stevens-Johnson syndrome 3 months before admission. He had no history of previous airway disease. On physical examination, expiratory breathing sounds were not audible, and a chest X-ray revealed a hyperinflated lung. A pulmonary function test indicated a severe obstructive pattern. Computed tomography scans of inspiratory and expiratory phases of respiration showed oligemia and air trapping, and both were more prominent on expiration view than on inspiration view. The pathogenesis of bronchiolitis obliterans associated with Stevens-Johnson syndrome is largely unknown. PMID:25684012

  5. Reverse or inverted apical ballooning in a case of refeeding syndrome

    PubMed Central

    Robles, Pablo; Monedero, Isabel; Rubio, Amador; Botas, Javier

    2015-01-01

    Takotsubo cardiomyopathy is characterized by the development of transient left ventricular regional wall motion abnormalities, in the absence of significant coronary artery obstruction. This syndrome usually occurs in women and is frequently associated with an intense emotional or physical stress. It usually involves apical segments, but in the recent years atypical forms have been described. Inverted or reverse Takotsubo is a variant in which the basal and midventricular segments are hypokinetic, sparing contractile function of the apex. In this report we describe the case of a 54-year-old woman, with chronic malnutrition, initially admitted because of hypoglycemia and severe electrolyte disturbance due to a refeeding syndrome. Within the next hours she experienced acute cardiac symptoms and developed heart failure with low cardiac output. Electrocardiogram (ECG), elevation of troponin and echocardiographic findings were consistent with inverted Takotsubo cardiomyopathy. To the best of our knowledge, this is the first incidence reported of inverted Takotsubo triggered by refeeding syndrome. PMID:26131342

  6. Spontaneously resolving cerebellar syndrome as a sequelae of dengue viral infection: a case series from Sri Lanka.

    PubMed

    Weeratunga, Praveen N; Caldera, H P Manjula C; Gooneratne, I Kishara; Gamage, Ranjanie; Perera, W Sujith P; Ranasinghe, Gayan V; Niraj, Mahboob

    2014-06-01

    Sri Lanka is hyperendemic for dengue viral infection. Dengue has a wide spectrum of neurological manifestations including previously reported Sri Lankan cases with a 6th nerve palsy and a cerebellar syndrome from a co-infection with dengue and Epstein-Barr virus. This series describes a spontaneously resolving cerebellar syndrome following a dengue viral infection. Dengue is potentially an important cause of cerebellar syndromes in countries hyperendemic for the disease; patients need further studies to identify the responsible serotypes. PMID:23840070

  7. Successful use of infliximab in the treatment of Reiter’s syndrome: a case report and discussion

    Microsoft Academic Search

    Himmat Gill; Vikas Majithia

    2008-01-01

    Reiter’s syndrome is one of the reactive forms of seronegative spondyloarthropathies. Various therapies used in the management\\u000a of Reiter’s syndrome are nonsteroidal antiinflammatory drugs (NSAIDs), antibiotics, and disease-modifying antirheumatic drugs\\u000a (DMARDs) such as sulfasalazine (SSZ) or methotrexate (MTX). There is only one case report of successful treatment of Reiter’s\\u000a syndrome with tumor necrosis factor-? (TNF-?) blockers in human immunodeficiency virus

  8. Pentalogy of Cantrell: reviewing the syndrome with a case report and nursing implications.

    PubMed

    Meeker, Tamara M

    2009-01-01

    Pentalogy of Cantrell is a rare syndrome characterized by 5 distinctive anomalies: epigastric omphalocele, sternal cleft, diaphragmatic defect, diaphragmatic pericardial defect, and intracardiac defect. There are limited case reports documented since its first description in 1958 due to either underdocumentation or underrecognition. One possibility for underrecognition is the idea that there can be incomplete expressions of the syndrome, and these cases may be reported as separate diagnoses. This article explores the case of an infant with the prenatal diagnosis of giant omphalocele who was found to have a complete expression of the pentalogy. Infants with diagnoses such as giant omphalocele and diaphragmatic hernia require complex medical and surgical care. Nursing is in the perfect position to provide these infants with safe, quality, and interdisciplinary care and to provide vital, comprehensive teaching to their parents and families. The need for and value of comprehensive follow-up of these infants cannot be expressed enough. PMID:19474591

  9. Two novel mutations identified in familial cases with Donohue syndrome

    PubMed Central

    Falik Zaccai, Tzipora C; Kalfon, Limor; Klar, Aharon; Elisha, Mordechai Ben; Hurvitz, Haggit; Weingarten, Galina; Chechik, Emelia; Fleisher Sheffer, Vered; Haj Yahya, Raid; Meidan, Gal; Gross-Kieselstein, Eva; Bauman, Dvora; Hershkovitz, Sylvia; Yaron, Yuval; Orr-Urtreger, Avi; Wertheimer, Efrat

    2014-01-01

    Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We report the clinical, molecular, and biochemical characterization of three new patients with DS, and address genotype–phenotype issues playing a role in the pathophysiology of DS. A female infant born to first-degree cousins Muslim Arab parents and two brothers born to first-degree cousins Druze parents presented classical features of DS with hypertrophic cardiomyopathy and died in infancy. Each patient was found homozygous for one missense mutation within the extracellular domain of the INSR gene. Western blot analysis identified the proreceptor of INSR, but not its mature subunits alpha and beta. Of 95 healthy Muslims, no heterozygous was found and of 52 healthy Druze from the same village, one was heterozygous. This study presents two novel familial mutations in the alpha subunit of the INSR which appear to impair post-translational processing of the INSR, resulting loss of its function. Both mutations cause DS with hypertrophic cardiomyopathy and early death. Identification of the causative mutation enables prevention of this devastating disease. PMID:24498630

  10. Mining temporal data sets: hypoplastic left heart syndrome case study

    NASA Astrophysics Data System (ADS)

    Kusiak, Andrew; Caldarone, Christopher A.; Kelleher, Michael D.; Lamb, Fred S.; Persoon, Thomas J.; Gan, Yuan; Burns, Alex

    2003-03-01

    Hypoplastic left heart syndrome (HLHS) affects infants and is uniformly fatal without surgery. Post-surgery mortality rates are highly variable and dependent on postoperative management. The high mortality after the first stage surgery usually occurs within the first few days after procedure. Typically, the deaths are attributed to the unstable balance between the pulmonary and systemic circulations. An experienced team of physicians, nurses, and therapists is required to successfully manage the infant. However, even the most experienced teams report significant mortality due to the extremely complex relationships among physiologic parameters in a given patient. A data acquisition system was developed for the simultaneous collection of 73 physiologic, laboratory, and nurse-assessed variables. Data records were created at intervals of 30 seconds. An expert-validated wellness score was computed for each data record. A training data set consisting of over 5000 data records from multiple patients was collected. Preliminary results demonstratd that the knowledge discovery approach was over 94.57% accurate in predicting the "wellness score" of an infant. The discovered knowledge can improve care of complex patients by development of an intelligent simulator that can be used to support decisions.

  11. Sanjad-sakati syndrome dental management: a case report.

    PubMed

    El Batawi, Hisham Y

    2013-01-01

    Sanjad-Sakati syndrome (SSS) is a rare genetic disorder with autosomal recessive pattern of inheritance characterized by hypoparathyroidism, sever growth failure, mental retardation, susceptibility to chest infection, and dentofacial anomalies. A child with SSS was referred to the dental departmentseeking dental help for sever dental caries which was attributed to his dietary habits and quality of dental tissues. Full restorative rehabilitation was done under general anesthesia. Two years later, the child presented with recurrent caries affecting uncrowned teeth. High carries recurrence rate was blamed for the nutritional habits endorsed by the parents. Only steel crowned teeth survived such hostile oral environment which suggested shifting of treatment strategy towards full coverage restorations instead of classical cavity preparations and fillings during a second attempt for dental treatment under general anesthesia and for the dental treatment of two cousins of the same child. The author recommends effective health education for parents including the nature of their child's genetic disorder, nutritional needs, and dental health education to improve the life style of such children. PMID:23533822

  12. Sturge-weber syndrome: a case report with persistent headache

    PubMed Central

    Balkuv, Ece; Isik, Nihal; Canturk, Ilknur Aydin; Isik, Nejat; Basaran, Recep

    2014-01-01

    Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by a facial vascular nevus associated with an ipsilateral leptomeningeal angioma. Headache is a rare component of SWS and when it occurs it usually occurs as a migraine-like headache. We aimed to present a SWS patient with episodic tension type headache and to draw attention in different types of headaches that can be seen in SWS. A 21 year old female patient with the diagnosis of SWS was suffering from severe headaches. At her physical examination a facial nevus -occurred due to choroid angioma- was observed. On her neurological examination a mild asymmetry of upper extremities was visible. She had a 2 year history of frequent non-pulsating headaches. There was no nausea or aura like symptoms accompanying the headache. Headaches were lasting for hours. The pain was bilateral and pressing in quality. SWS are a very rare and challenging disease for both the patients and their families. Usually migraine type headache is seen in SWS but it should not be forgotten that more generalized headaches like tension type may also be seen. PMID:25400854

  13. Sturge-weber syndrome: a case report with persistent headache.

    PubMed

    Balkuv, Ece; Isik, Nihal; Canturk, Ilknur Aydin; Isik, Nejat; Basaran, Recep

    2014-01-01

    Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by a facial vascular nevus associated with an ipsilateral leptomeningeal angioma. Headache is a rare component of SWS and when it occurs it usually occurs as a migraine-like headache. We aimed to present a SWS patient with episodic tension type headache and to draw attention in different types of headaches that can be seen in SWS. A 21 year old female patient with the diagnosis of SWS was suffering from severe headaches. At her physical examination a facial nevus -occurred due to choroid angioma- was observed. On her neurological examination a mild asymmetry of upper extremities was visible. She had a 2 year history of frequent non-pulsating headaches. There was no nausea or aura like symptoms accompanying the headache. Headaches were lasting for hours. The pain was bilateral and pressing in quality. SWS are a very rare and challenging disease for both the patients and their families. Usually migraine type headache is seen in SWS but it should not be forgotten that more generalized headaches like tension type may also be seen. PMID:25400854

  14. Anterior Tarsal Tunnel Syndrome With Thrombosed Dorsalis Pedis Artery: A Case Report

    PubMed Central

    Gani, Naseemul; Khan, Hayat Ahmad; Kamal, Younis; Farooq, Munir; Jeelani, Hina; Shah, Adil Bashir

    2015-01-01

    Introduction: The aanterior tarsal tunnel syndrome denotes the entrapment of the deep peroneal nerve under the inferior extensor retinaculum. Although various etiological factors have been reported to cause anterior tarsal syndrome, its occurrence with thrombosed dorsalis pedis artery has not been reported in the English literature. Case Presentation: A 40 -year-old male patient was presented with the history of persistent pain along the dorsal surface of right foot, which was aggravated with the activities. Conservative management was tried without much relief. Diagnosis of anterior tarsal tunnel syndrome was made and the patient was planned for surgery. Thrombosed dorsalis pedis artery was found along with two adjacent collateral vessels. Retinaculum was released and nerve was mobilized. Tight compartment got released. Postoperative period was uneventful. No recurrence was seen on follow-up. Conclusion: The anterior tarsal tunnel syndrome is a known disease. A high index of clinical suspicion is required while dealing with the chronic cases. A detailed history to rule out any traumatic event is necessary too. Timely investigations and surgical release give dramatic relief.

  15. [Transient charles bonnet syndrome after excision of a right occipital meningioma: a case report].

    PubMed

    Arai, Takao; Hasegawa, Yuzuru; Tanaka, Toshihide; Kato, Naoki; Watanabe, Mitsuyoshi; Nakamura, Aya; Murayama, Yuichi

    2014-05-01

    Charles Bonnet syndrome is a condition characterized by visual hallucinations. These simple or complex visual hallucinations are more common in elderly individuals with impaired peripheral vision. The current report describes a case of transient Charles Bonnet syndrome appearing after the removal of a meningioma. The patient was a 61-year-old man who already had impaired visual acuity due to diabetic retinopathy. Brain MRI revealed a cystic tumor severely compressing the right occipital lobe. Starting on day 2 postoperatively, the patient was troubled by recurring visual hallucinations involving people, flowers, pictures, and familiar settings(the train and a coffee shop). These continued for 3.5 months. This period roughly coincided with the time for the occipital lobe to recover from the compression caused by the tumor, a fact that was confirmed by several MRI scans. ¹²³I-IMP SPECT performed 1 month after the surgical operation showed an area of hypoperfusion in the right parieto-occipital lobe. Based on the patient's clinical course and MRI findings, the mechanism of onset of visual hallucinations in this patient was put forward. The release of pressure in the brain by tumor removal and subsequent recovery changed the blood flow to the brain. This triggered visual hallucinations in the patient, who was already predisposed to developing Charles Bonnet syndrome because of diabetic retinopathy. This case is interesting since it indicates that central neurological factors, as well as visual deficits, may induce the appearance of visual hallucinations in Charles Bonnet syndrome. PMID:24807549

  16. Flexor digitorum accessorius causing tarsal tunnel syndrome in a paediatric patient: A case report and review of the literature.

    PubMed

    Molloy, A P; Lyons, R; Bergin, D; Kearns, S R

    2015-06-01

    The flexor digitorium accessorius muscle is an unusual anatomical variant found in the posteromedial aspect of the hindfoot and ankle. As previously described, its location predisposes patients to developing tarsal tunnel syndrome. This case illustrates the diagnosis, treatment and resolution of tarsal tunnel syndrome in a paediatric patient, secondary to the presence of flexor digitorium accessorius muscle. PMID:25937423

  17. Career barriers for women executives and the Glass Ceiling Syndrome: the case study comparison between French and Turkish women executives.

    E-print Network

    Paris-Sud XI, Université de

    Career barriers for women executives and the Glass Ceiling Syndrome: the case study comparison, Technology and Innovation Management Career barriers for women executives and the Glass Ceiling Syndrome managers. This study investigates how women in middle management perceive their career advancement

  18. Modeling to Predict Cases of Hantavirus Pulmonary Syndrome in Chile

    E-print Network

    Ramakrishnan, Naren

    have considered climatological modeling of HPS incidence for monitoring and forecasting purposes­2012. There were an estimated 667 confirmed HPS cases. The data suggested a seasonal trend, which appeared to correlate with changes in climatological variables such as temperature, precipitation, and humidity. We

  19. Fish odor syndrome: a case report of trimethylaminuria.

    PubMed

    Ulman, Catherine A; Trevino, Julian J; Miller, Marvin; Gandhi, Rishi K

    2014-01-01

    Trimethylaminuria is a rare, autosomal recessive, metabolic disorder that results in accumulation of trimethylamine (TMA), which smells like rotten fish. The chemical is excreted in sweat and urine owing to a deficiency in the enzyme flavin monooxygenase 3 (FMO3). We report a case of trimethylaminuria in a 12-year-old girl. The patient failed treatment with diet and hygiene modification, but achieved symptomatic improvement after a four-month course of metronidazole. PMID:24456963

  20. Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*

    PubMed Central

    Zhou, Xiao-Ping; Woodford-Richens, Kelly; Lehtonen, Rainer; Kurose, Keisuke; Aldred, Micheala; Hampel, Heather; Launonen, Virpi; Virta, Sanno; Pilarski, Robert; Salovaara, Reijo; Bodmer, Walter F.; Conrad, Beth A.; Dunlop, Malcolm; Hodgson, Shirley V.; Iwama, Takeo; Järvinen, Heikki; Kellokumpu, Ilmo; Kim, J. C.; Leggett, Barbara; Markie, David; Mecklin, Jukka-Pekka; Neale, Kay; Phillips, Robin; Piris, Juan; Rozen, Paul; Houlston, Richard S.; Aaltonen, Lauri A.; Tomlinson, Ian P. M.; Eng, Charis

    2001-01-01

    Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were identified, JPS could easily be confused with other inherited hamartoma syndromes, such as Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Cowden syndrome (CS). Germline mutations of MADH4 (SMAD4) have been described in a variable number of probands with JPS. A series of familial and isolated European probands without MADH4 mutations were analyzed for germline mutations in BMPR1A, a member of the transforming growth-factor ?–receptor superfamily, upstream from the SMAD pathway. Overall, 10 (38%) probands were found to have germline BMPR1A mutations, 8 of which resulted in truncated receptors and 2 of which resulted in missense alterations (C124R and C376Y). Almost all available component tumors from mutation-positive cases showed loss of heterozygosity (LOH) in the BMPR1A region, whereas those from mutation-negative cases did not. One proband with CS/CS-like phenotype was also found to have a germline BMPR1A missense mutation (A338D). Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype. PMID:11536076

  1. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

    PubMed

    Zhou, X P; Woodford-Richens, K; Lehtonen, R; Kurose, K; Aldred, M; Hampel, H; Launonen, V; Virta, S; Pilarski, R; Salovaara, R; Bodmer, W F; Conrad, B A; Dunlop, M; Hodgson, S V; Iwama, T; Järvinen, H; Kellokumpu, I; Kim, J C; Leggett, B; Markie, D; Mecklin, J P; Neale, K; Phillips, R; Piris, J; Rozen, P; Houlston, R S; Aaltonen, L A; Tomlinson, I P; Eng, C

    2001-10-01

    Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were identified, JPS could easily be confused with other inherited hamartoma syndromes, such as Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Cowden syndrome (CS). Germline mutations of MADH4 (SMAD4) have been described in a variable number of probands with JPS. A series of familial and isolated European probands without MADH4 mutations were analyzed for germline mutations in BMPR1A, a member of the transforming growth-factor beta-receptor superfamily, upstream from the SMAD pathway. Overall, 10 (38%) probands were found to have germline BMPR1A mutations, 8 of which resulted in truncated receptors and 2 of which resulted in missense alterations (C124R and C376Y). Almost all available component tumors from mutation-positive cases showed loss of heterozygosity (LOH) in the BMPR1A region, whereas those from mutation-negative cases did not. One proband with CS/CS-like phenotype was also found to have a germline BMPR1A missense mutation (A338D). Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype. PMID:11536076

  2. [Smith-Lemli-Opitz syndrome and hypothyroidism: the first Venezuelan case].

    PubMed

    Lima-Martínez, Marcos M; Zerpa, José; Gil, Victor

    2014-09-01

    The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder due to an abnormal cholesterol synthesis. It was first described by Smith, Lemli and Opitz in 1964. Many cases of SLOS have been described since then, leading to the recognition as a relatively common malformation syndrome. Affected individuals have dysmorphism, microcephaly, multiple congenital malformations, mental retardation, aggressiveness and hyperactivity. The severity of physical defects correlates with the severity of the cholesterol deficiency, which is caused by an abnormally low activity of 7-dehydrocholesterol reductase, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. The occurrence of hypothyroidism in association with SLOS is very unusual. We describe the first Venezuelan case in which both anomalies are associated. PMID:25272525

  3. An Indian Boy with Griscelli Syndrome Type 2: Case Report and Review of Literature

    PubMed Central

    Singh, Ankur; Garg, Amit; Kapoor, Seema; Khurana, Nita; Entesarian, Miriam; Tesi, Bianca

    2014-01-01

    Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic dysfunction. Clinical course is characterized by recurrent infection triggered by uncontrolled T-lymphocyte and macrophage activation, called hemophagocytic syndrome. Since the primary presentation is with depigmented hair, we attempt to highlight diagnostic difficulties in such cases in developing countries like ours where pigmentary changes in hair and skin are commonly attributed to severe malnutrition. We also evaluated phenotype of all 10 cases of genotype (c.C550T; p.R184X), collected from published literature worldwide and emphasize the potential role of above mutation as hotspot in Southeast Asian region. PMID:25071262

  4. Multidisciplinary Management of Paget-Schroetter Syndrome. A Case Series of Eight Patients.

    PubMed

    Rosa Salazar, Vladimir; Otálora Valderrama, Sonia Del Pilar; Hernández Contreras, María Encarnación; García Pérez, Bartolomé; Arroyo Tristán, Andrés Del Amor; García Méndez, María Del Mar

    2014-12-01

    Paget-Schroetter syndrome (PSS) in the context of upper extremity deep venous thrombosis (DVT) is an uncommon but potentially very serious condition affecting young, healthy adults, in which secondary post-thrombotic syndrome (PTS) can be a complication with major implications. The best treatment option remains controversial, with current guidelines recommending anticoagulation for at least 3 months. However, an incidence of PTS of approximately 50% after 6 months, 30% after 1 year and 25% after 2 years has been found using this therapeutic approach. Consequently, specialized units recommend local thrombolysis and early decompressive surgery. We describe a series of eight cases treated in this way. None of the patients showed signs of complications, and an early return to regular activities with no PTS was observed in 90% of cases. PMID:25446871

  5. Deafness due to bilateral endolymphatic sac tumours in a case of von Hippel-Lindau syndrome.

    PubMed Central

    Kempermann, G; Neumann, H P; Scheremet, R; Volk, B; Mann, W; Gilsbach, J; Laszig, R

    1996-01-01

    A case of bilateral endolymphatic sac tumours is reported. In a patient with von Hippel-Lindau syndrome, tumour growth in the right cerebellopontine angle caused deafness. The tumour was removed and classified as a metastasis from a thyroid carcinoma. However, on thyroidectomy no primary neoplasm could be found. Eight years later a similar tumour was operated on in the left petrosal bone. Histological appearance, immunocytochemical findings, and the clinical context gave evidence that the tumours had to be reclassified as endolymphatic sac tumours--extremely rare entities. The report supports the hypothesis, suggested by the few earlier case reports, that endolymphatic sac tumours could be one of the inherent tumour manifestations in von Hippel-Lindau syndrome. Images PMID:8795608

  6. A Case of Hemophagocytic Syndrome due to Tuberculosis: Uncommon Manifestation of a Common Disease

    PubMed Central

    Singha, Arijit; Mukherjee, Adreesh; Dasgupta, Riddhi; Das, Tapas

    2014-01-01

    Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is the manifestation of immune dysregulation. It is associated with ineffective but exaggerated immune response and infiltration of active lymphocytes and histiocytes in various organs. This devastating clinical condition has myriad of clinical and biochemical manifestations such as fever, splenomegaly, pancytopenia, hypertrygliceridemia, and hyperferritinemia. It can be either primary or secondary. Primary HLH usually presents in childhood. Secondary HLH occurs due to infection mostly viruses but other aetiologies are also important as early detection and treatment may improve survival. Hemophagocytosis due to tuberculosis is uncommon. Only handful of cases have been reported mostly in immunocompromised patients. We report a case of hemophagocytic syndrome associated with disseminated tuberculosis in an immunocompetent women highlighting early diagnosis and treatment is a demanding need in this devastating disease. PMID:25404945

  7. Exertional compartment syndrome of the medial foot compartment--diagnosis and treatment: a case report.

    PubMed

    Izadi, Faye E; Richie, Douglas H

    2014-07-01

    Exertional compartment syndrome in the foot is rarely reported and often confused with plantar fasciitis as a cause of arch pain in the running athlete. We describe a case involving a 19-year-old competitive collegiate runner who developed a chronic case of bilateral medial arch pain during training, which was initially diagnosed as plantar fasciitis but failed to respond to conventional treatment. After symptoms began to suggest exertional compartment syndrome, the diagnosis was confirmed by measuring an elevated resting pressure in the medial compartment of both feet. The patient underwent a bilateral medial compartment fasciotomy, which allowed a full return to activity, and has remained pain free after a 1-year follow-up. PMID:25076087

  8. Isolated aglossia congenita: A rare case of oromandibular limb hypogenesis syndrome type I B

    PubMed Central

    Gupta, Shalini R

    2012-01-01

    Aglossia congenita (AC), congenital total absence of the tongue, is a very rare midline developmental anomaly, hypothesized to be associated with vascular disruption between the fourth and eighth week of gestation. It was classified by Hall (1971) as part of oromandibular limb hypogenesis syndrome (OLHS) type I B. Most of the cases reported with OLHS are actually hypoglossia with limb abnormalities whereas isolated aglossia is an extremely rare entity. A case of isolated AC is presented in a 28-year-old Indian male. He had long narrow face, tapering chin, low set ears, and microstomia. Intraorally, he had narrow palatal vault, constricted oropharyngeal isthmus, oligodontia, and maxillo-mandibular hypoplasia. Interestingly, the patient showed a median palatal groove, which has not been reported before. He also had an unusual acquired adaptive mechanism to compensate for aglossia. This report presents the manifestations of this rare syndrome, its complications, differential diagnosis, and rehabilitation strategies. PMID:23248477

  9. Otitis complicated by Jacod's syndrome with unusal facial nerve involvement: Case report and review of literature.

    PubMed

    Abdulkadir, Kocer; Buket, Sanlisoy; Dilek, Agircan; Munevver, Okay; Ayse, Aralasmak

    2015-04-01

    Otitis media is a well-known condition and its infra-temporal and intracranial complications are extremely rare because of the widespread usage of antibiotic treatment. We report a case of 63-year-old female with complaints of right-sided facial pain and diplopia. She had a history of acute otitis media before 4 months of admission to our neurology unit. Neurological examination showed that total ophthalmoplegia with ptosis, mydriasis, decreased vision and loss of pupil reflex on the right side. In addition, there was involvement of 5th and 7th cranial nerves. Neurological and radiological follow-up examinations demonstrated Jacod's Syndrome with unusual facial nerve damage and infection in aetiology. Sinusitis is the most common aetiology, but there are a few cases reported Jacod's Syndrome originating from otitis media. PMID:25976583

  10. The value of MRI in a case of Tolosa-Hunt syndrome

    Microsoft Academic Search

    Zeki Odaba?i; Zeki Gökçil; Serhan Atilla; Yüksel Pabu?çu; Okay Vural; Muzaffer Yardim

    1997-01-01

    We report a case of Tolosa-Hunt syndrome (THS) in which the lesion has been demonstrated by magnetic resonance imaging (MRI), computed tomography (CT), and angiography. A healthy 23-year-old man developed an acute painful ophthalmoplegia on the right side. CT and MRI scans revealed asymmetric enlargement of the right cavernous sinus with contrast enhancement extending down to the region of trigeminal

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

    PubMed Central

    2011-01-01

    We report an unusual case of HIV-related immune reconstitution inflammatory syndrome, presenting as suspected AIDS-related lymphoma. Symptoms, initial investigations including fine-needle biopsy and 18F-FDG PET/CT scan were highly compatible with high grade AIDS-related lymphoma, however subsequently IRIS was diagnosed. We discuss pitfalls in the interpretation of diagnostic results in ARL versus IRIS. PMID:21955517

  12. A case report of an Irish family displaying Nail-Patella syndrome

    Microsoft Academic Search

    N. Downey

    1993-01-01

    Summary  This is a case report of an Irish family displaying classical features of Nail-Patella Syndrome — also known as Osteo-onycho\\u000a Dystrophy — involving four members over three generations. This rare autosomal dominant disorder is well defined with four\\u000a classical characteristics: dysplasia of finger nails, hypoplastic or absent patellae, hypoplasia of the head of the radius\\u000a and often the capitulum of

  13. The Effect of Nutritional Therapy for Yeast Infection (Candidiasis) in Cases of Chronic Fatigue Syndrome

    Microsoft Academic Search

    Erica White; Caroline Sherlock

    The objective of this study was to evalu- ate the effectiveness of nutritional therapy for yeast infection in cases of medically-diag- nosed Chronic Fatigue Syndrome\\/ME. Forty participants, each with medically- diagnosed CFS\\/ME, received individual nu- tritional advice for treating yeast infection (candidiasis) over the course of one year, fol- lowing an anti-candida protocol which had been used successfully in nutritional

  14. Multiple Chemical Sensitivity Syndrome (MCS) – suggestions for an extension of the US MCS-case definition

    Microsoft Academic Search

    Michael Lacour; Thomas Zunder; Klaus Schmidtke; Peter Vaith; Carl Scheidt

    2005-01-01

    Purpose: To validate and extend the US case definition for the Multiple Chemical Sensitivity Syndrome (MCS) from 1999 by a systematic literature-review.Data source: MEDLINE-research from 1997 to August 2003, research in the Cochrane-Library in August 2003, earlier reviews since 1997.Study selection: Headings and abstracts were screened by one reviewer. All references dealing with multiple chemical sensitivities (MCS) which covered topics

  15. Catastrophic antiphospholipid syndrome during pregnancy and puerperium: maternal and fetal characteristics of 15 cases

    PubMed Central

    Gómez?Puerta, José A; Cervera, Ricard; Espinosa, Gerard; Asherson, Ronald A; García?Carrasco, Mario; da Costa, Izaias P; Andrade, Danieli C O; Borba, Eduardo F; Makatsaria, Alexander; Bucciarelli, Silvia; Ramos?Casals, Manuel; Font, Josep

    2007-01-01

    Background The catastrophic variant of the antiphospholipid syndrome (APS) is a life?threatening form of presentation of this syndrome that can be triggered by several factors. Aim To describe the characteristics of patients who developed catastrophic APS triggered during pregnancy and puerperium. Methods A review of the first 255 cases collected in the website?based “CAPS Registry” was undertaken. Three new and unpublished cases of catastrophic APS developed during pregnancy and puerperium were added. Results Fifteen cases were identified. The mean (range) age was 27 (17–38)?years. Most patients had a previous unsuccessful obstetric history. In 7 of 14 (50%) cases with available medical history, the catastrophic APS appeared during pregnancy, in 6 (43%) during the puerperium and in 1 (7%) after curettage for a fetal death. The main clinical and serological characteristics were similar to those patients with catastrophic APS triggered by other factors, except for a history of a higher prevalence of previous abortions (p<0.01). Several specific features were found, including the HELLP (haemolysis, elevated liver enzymes, low platelets) syndrome in 8 (53%) patients, placental infarctions in 4 (27%) patients, and pelvic vein thrombosis and myometrium thrombotic microangiopathy in 1 (7%) patient each. Mortality rate was high for the mothers (46%), and for the babies (54%). Conclusions It is important to consider the possibility of the development of catastrophic APS in those patients with signs of HELLP syndrome and multiorgan failure during pregnancy or puerperium, especially in those patients with previous history of abortions and/or thrombosis. PMID:17223653

  16. Case report: Esophageal histoplasmosis associated with disseminated tuberculosis in acquired immunodeficiency syndrome.

    PubMed

    Rezende, Rosamar Eulira Fontes; Brunaldi, Mariângela Ottoboni; Girão, Milena Santana; Zucoloto, Sérgio; Garcia, Sérgio Britto; Machado, Alcyone Artioli; Módena, José Luiz Pimenta

    2009-03-01

    Bacterial and fungal infections are common in acquired immunodeficiency syndrome (AIDS). Histoplasmosis is a common fungal disease in severely immunocompromised patients infected with human immunodeficiency virus (HIV) in endemic areas. In this population the most frequent form of presentation of histoplasmosis is disseminated, with the clinical manifestations being similar to those of disseminated tuberculosis. Esophageal histoplasmosis and the association of histoplasmosis with tuberculosis are infrequent. We report here a rare case of esophageal histoplasmosis associated with disseminated tuberculosis in AIDS. PMID:19270280

  17. T-cell dysfunction in a patient with short bowel syndrome: Report of a case

    Microsoft Academic Search

    Koji Kono; Takayoshi Sekikawa; Hidehiko Iizuka; Fumiko Ichihara; Hideki Amemiya; Toru Ishikawa; Yoshiro Matsumoto

    1999-01-01

    We describe herein the case of a 48-year-old man who underwent emergency massive resection of the small intestine due to strangulated\\u000a ileus, which led to short bowel syndrome (SBS) as he was left with 7 cm of jejunum and 8 cm of ileum. We evaluated the immune\\u000a function in this patient, focusing particular attention on T-cell-mediated immunity. Biochemical and nutritional

  18. A Case of Solitary Fibrous Pleura Tumor Associated with Severe Hypoglycemia: Doege-Potter Syndrome

    PubMed Central

    Jang, Jong Geol; Hong, Kyung Soo; Ahn, June Hong; Lee, Jae Young; Jo, Jae Ho; Lee, Dong Won; Shin, Kyeong Cheol; Lee, Kwan Ho; Kim, Mi Jin; Lee, Jung Cheul; Lee, Jang Hoon; Lee, Jae Kyo

    2015-01-01

    Solitary fibrous tumor of the pleura (SFTP) is a rare primary intrathoracic tumor that arises from mesenchymal tissue underlying the mesothelial layer of the pleura. It usually has an indolent clinical course. The hypoglycemia that accompanies SFTP was first described by Doege and Potter independently in 1930, hence the eponym Doege-Potter syndrome (DPS). The incidence of DPS is reported to be ~4%. In this report, we present a typical case of DPS that was cured through complete surgical resection. PMID:25861346

  19. An explanation for another familial case of Rett syndrome: maternal germline mosaicism

    Microsoft Academic Search

    Margarida Venâncio; Mónica Santos; Susana Aires Pereira; Patrícia Maciel; Jorge M Saraiva

    2007-01-01

    Rett syndrome (RTT; OMIM#312750) is a severe neurodevelopmental disorder that affects mainly girls. It has an estimated incidence of 1:10 000–15 000 females. Mutations in the X-linked gene methyl CpG-binding protein 2 (MECP2) have been found in most patients. The most accepted explanation for the sex bias is that the Rett mutation in sporadic cases has its origin in the

  20. Psychosis in a Case of Kleine-Levin Syndrome: A Diagnostic Challenge

    PubMed Central

    Murthy, Vasantmeghna Srinivasa; Kelkar, Amol Deepak; Sonavane, Sushma Sanjiv

    2014-01-01

    Kleine-Levin syndrome (KLS) is a rare disorder of sleep diagnosed mainly on clinical grounds. It presents a unique diagnostic dilemma for neurologists and psychiatrists; especially due to a high risk of being diagnosed as a psychiatric condition like a mood disorder. However, there is literature available documenting the cooccurrence of psychiatric illnesses in patients diagnosed with KLS. The following case highlights the above points. PMID:24860224

  1. PHACE syndrome with growth hormone deficiency and absence of bilateral internal carotid arteries: a case report.

    PubMed

    Altin, Hakan; Alp, Hayrullah; Sap, Fatih; Karata?, Zehra; Baysal, Tamer; Karaaslan, Sevim

    2012-01-01

    PHACE syndrome is characterized by posterior fossa malformations (P), large facial hemangiomas (H), arterial anomalies (A), cardiac anomalies or coarctation of aorta (C), and eye anomalies (E) and has striking female predominance. Endocrine abnormalities have recently been described in these patients, involving the thyroid and pituitary glands. We report the case of a 2-year-old girl with the clinical features of PHACE with absence of bilateral internal carotid arteries and isolated growth hormone deficiency. PMID:22010790

  2. 3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition

    Microsoft Academic Search

    Feng Li; Emily C. Lisi; Elizabeth S. Wohler; Ada Hamosh; Denise A. S. Batista

    2009-01-01

    An inherited, interstitial subtelomere deletion of approximately 1.3–1.4 Mb at 3q29 was identified in a patient and his father utilizing BAC array comparative genomic hybridization (a-CGH). The imbalance was located within the common 3q29 microdeletion syndrome region and shared the distal breakpoint with prior published cases. However, our patient was developmentally normal at 6 months of age and his father is

  3. Acute coronary syndrome in young Sub-Saharan Africans: A prospective study of 21 cases

    PubMed Central

    2013-01-01

    Background Coronary heart disease remains the leading cause of death in developed countries. In Africa, the disease continues to rise with varying rates of progression in different countries. At present, there is little available work on its juvenile forms. The objective of this work was to study the epidemiological, clinical and evolutionary aspects of acute coronary syndrome in young Sub-Saharan Africans. Methods This was a prospective multicenter study done at the different departments of cardiology in Dakar. We included all patients of age 40 years and below, and who were admitted for acute coronary syndrome between January 1st, 2005 and July 31st, 2007. We collected and analyzed the epidemiological, clinical, paraclinical and evolutionary data of the patients. Results Hospital prevalence of acute coronary syndrome in young people was 0.45% (21/4627) which represented 6.8% of all cases of acute coronary syndrome admitted during the same period. There was a strong male predominance with a sex-ratio (M:F) of 6. The mean age of patients was 34?±?1.9 years (range of 24 and 40 years). The main risk factor was smoking, found in 52.4% of cases and the most common presenting symptom was chest pain found in 95.2% of patients. The average time delay before medical care was 14.5 hours. Diagnosis of ST- elevation myocardial infarction in 85.7% of patients and non-ST-elevation myocardial infarction in 14.3% was made by the combination electrocardiographic features and troponin assay. Echocardiography found a decreased left ventricular systolic function in 37.5% of the patients and intraventricular thrombus in 20% of them. Thrombolysis using streptokinase was done in 44.4% of the patients with ST- elevation myocardial infarction. Hospital mortality was 14.3%. Conclusion Acute coronary syndrome is present in young Sub-Saharan Africans. The main risk factor found was smoking. PMID:24330283

  4. Kounis syndrome: a stinging case of ST-elevation myocardial infarction.

    PubMed

    Scherbak, Dmitriy; Lazkani, Mohamad; Sparacino, Nick; Loli, Akil

    2015-04-01

    Kounis syndrome is not a rare but an infrequently diagnosed non-thrombogenic cause of angina or myocardial infarction triggered by the release of inflammatory mediators following an allergic or anaphylactic reaction. This so-called "allergic angina" is seen in the setting of anaphylactic reactions and is believed to be due to mast cell release causing coronary vasospasm. The treatment of such cases is often with epinephrine, which has also been described in the literature as another rare cause of coronary vasospasm. We present a case of Kounis syndrome seen in a 46 year-old male who suffered two bee stings while landscaping in his yard. He developed an anaphylactic reaction and was promptly treated with IM epinephrine injection by paramedics at arrival and developed marked ST elevations on EKG in the inferior leads with reciprocal ST depressions in the anterior leads. His troponin peaked at 13 ng/mL and tryptase level was 15 ng/mL (normal <10 ng/mL). Coronary catheterisation showed non-diseased coronary arteries and a normal ejection fraction without evidence of vasospasm. He was afterwards treated with an epinephrine drip for distributive shock. Interestingly this syndrome was not provoked when re-challenged with this therapy, suggestive of an allergic reaction rather than epinephrine as the aetiology of his presumed vasospasm. This patient's ST segment elevation and troponin elevation was due to Kounis syndrome. Awareness that anaphylactic reactions can lead to Kounis syndrome can lead to prompt appropriate treatment for this life threatening condition. PMID:25547529

  5. Unusual association between Budd-Chiari syndrome secondary to antiphospholipid syndrome and relapsing polychondritis: a case report and review of the literature.

    PubMed

    Sebastiani, M; Manzini, C U; Campomori, F; Spinella, A; Vacchi, C; Giuggioli, D; Giuggoli, D; Schepis, F; Ferri, C

    2013-06-01

    Relapsing polychondritis is a rare immune-mediated condition, characterized by episodic inflammation of the cartilaginous tissue, in particular the ears, nose, and eyes, and involvement of joints and respiratory tract. Nearly one third of patients showed other associated diseases, such as systemic vasculitides, connective tissue diseases, or myelodysplastic syndromes. Antiphospholipid antibodies can be found in relapsing polychondritis in patients with no clinical thrombotic disease. However, when antiphospholipid syndrome is present, its clinical manifestations can be severe and life threatening. We describe the case of a patient with relapsing polychondritis associated to Budd-Chiari syndrome due to antiphospholipid syndrome. The present clinical observations together with the updated review of the literature suggest a search for antiphospholipid antibodies in all patients with relapsing polychondritis. PMID:23512377

  6. Rapid progressive interstitial lung disease as initial manifestation of primary Sjögren’s syndrome: a case report

    PubMed Central

    Lin, Yihua; Yi, Qun; Cheng, Deyun

    2014-01-01

    Primary Sjögren’s syndrome is a chronic inflammatory disorder with many extraglandular organ systems involved, including the lungs. Diffuse interstitial lung disease is the most serious form of lung involvement. Parenchymal lung involvement in primary Sjögren’s syndrome is usually manifested by cough and/or slowly progressive dyspnea and most of the cases present as chronic course. We describe here a case of primary Sjögren’s syndrome who presented as rapid progressive interstitial lung disease. Improvement was obtained with treatment of corticosteroids and ventilatory support at early time. To the best of our knowledge, this is the first report documenting primary Sjögren’s syndrome initially presenting as rapid progressive interstitial lung disease and it enriches our understanding of the clinical manifestations of primary Sjögren’s syndrome. PMID:25664130

  7. Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports

    PubMed Central

    2013-01-01

    Introduction Bloom syndrome is a rare, autosomal recessive, chromosomal instability disorder caused by mutations in the BLM gene that increase the risk of developing neoplasias, particularly lymphomas and leukemias, at an early age. Case presentation Case 1 was a 10-year-old Brazilian girl, the third child of a non-consanguineous non-Jewish family, who was born at 36 weeks of gestation and presented with severe intrauterine growth restriction. She had Bloom syndrome and was diagnosed with a unilateral Wilms’ tumor at the age of 3.5 years. She responded well to oncological treatment and has remained disease-free for the last 17 years. Case 2 was a 2-year-old Brazilian girl born to non-Jewish first-degree cousins. Her gestation was marked by intrauterine growth restriction. She had Bloom syndrome; a unilateral stage II Wilms’ tumor was diagnosed at the age of 4 years after the evaluation of a sudden onset abdominal mass. Surgical removal, neoadjuvant chemotherapy and radiotherapy were not sufficient to control the neoplasia. The tumor recurred after 8 months and she died from clinical complications. Conclusion Our study reports the importance of rapid diagnostics and clinical follow-up of these patients. PMID:24377487

  8. Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy.

    PubMed

    Trivisano, Marina; Specchio, Nicola; Vigevano, Federico

    2015-03-01

    Stiripentol is an antiepileptic drug (AED) approved by the European Medicines Agency for the treatment of Dravet Syndrome (DS) as adjunct treatment with valproate and clobazam. PCDH19-related epilepsy is an emerging epileptic syndrome characterized by the occurrence of epilepsy in female patients associated with mental retardation and autistic features in most cases. It shares many features with DS: age of onset, normal development before the onset, fever sensitivity, cognitive impairment during the time, drug-resistance. Basing on the numerous similarities between DS and PCDH19-related epilepsy, we tried stiripentol in a nine and half year old female patient with PCDH19-related resistant epilepsy, as add-on treatment to valproate and clobazam. It had a surprising efficacy as the patient had a two years and ten months seizure free period, as never in her epilepsy history. Up to date, clinical trials of stiripentol have been always focused on DS. The delineation of new epileptic syndromes, as PCDH19-related epilepsy, opens new scenarios to the utilization of this AED. This case report is suggestive of a good response of PCDH19-related Epilepsy to stiripentol. However further cases and above all clinical trials are necessary to confirm this result. PMID:25510386

  9. Joint manifestations in myelodysplastic syndromes. A report of three cases presenting as polymyalgia rheumatica.

    PubMed

    Berthelot, J M; Hamidou, M; Dauty, M; Rodet, D; Maugars, Y; Prost, A

    1997-02-01

    We report three cases of polymyalgia rheumatica occurring after (n = 1) or shortly before (n = 2) a diagnosis of myelodysplastic syndrome. These cases demonstrate that: 1) inflammation and bleeding are not the only causes of anemia in patients with inflammatory joint disease; 2) side effects of drugs, Felty's syndrome and large granular lymphocyte expansion are not the only causes of neutropenia in this setting; 3) lymphomas and monoclonal gammopathies are not the only hematologic diseases that can present under the guise of polymyalgia rheumatica; 4) a high index of suspicion for a myelopoietic disorder should be maintained in patients who have not only joint symptoms and cytopenia, but also vasculitis, neurologic symptoms, thyroid disorders or protein electrophoresis abnormalities. Because myelodysplastic syndromes are due to clonal proliferation of abnormal stem cells, our cases are in line with recent investigations suggesting that abnormalities of bone marrow stem cells are involved in the pathogenesis of some inflammatory joint diseases. Studies of the clonality and karyotype of synovial cells from affected joints might lend further support to this hypothesis. PMID:9085443

  10. [Uncommon neonatal case of hypoglycemia: ACTH resistance syndrome].

    PubMed

    Delmas, O; Marrec, C; Caietta, E; Simonin, G; Morel, Y; Girard, N; Roucher, F; Sarles, J; Chabrol, B; Reynaud, R

    2014-12-01

    Monitoring of blood glucose is usually reported to reduce the risk of hypoglycemia in term newborns with high risk factors and for prematurity in neonatal intensive care unit patients. Differential diagnosis has rarely been discussed. In the eutrophic term newborn, hypoglycemia remains rare and an etiological diagnosis must be made. Intensive management of neonatal hypoglycemia is required to prevent neurodevelopmental defects. Without evident cause or if hypoglycemia persists, a systematic review of possible causes should be made. We report isolated glucocorticoid deficiency diagnosed in an infant at 10 months of age. This boy had neonatal hypoglycemia and mild jaundice that had not been investigated. During his first 9 months of life, he presented frequent infections. At 10 months of age, febrile seizures occurred associated with shock, hypoglycemia, hyponatremia, mild hyperpigmentation, and coma. He was diagnosed with hypocortisolemia and elevated ACTH levels. Brain injury was revealed by MRI after resuscitation, with hypoxic-ischemic and hypoglycemic encephalopathy. The molecular studies demonstrated the presence of p.Asp107Asn and previously unreported frameshift p.Pro281GlnfsX9 MC2R gene mutations. A substitutive hormone therapy was provided and during a follow-up of 12 months no adrenal crisis was noted. We report an unusual case of familial glucocorticoid deficiency with severe neurological injury. This case demonstrates the importance of an appropriate etiological diagnosis in neonatal hypoglycemia. PMID:25445127

  11. [GACI syndrome: a case report with a neonatal beginning].

    PubMed

    Freychet, C; Gay, C; Lavocat, M-P; Teyssier, G; Patural, H; Bacchetta, J; Cottalorda, J; Meunier, B Bader; Linglart, A; Baujat, G; Stephan, J-L

    2014-06-01

    GACI (generalized arterial calcification of infancy) is a rare autosomal recessive disorder characterized by arterial and periarticular calcifications. Most children die in the first months of life of cardiovascular complications. Hypophosphatemic rickets (HR) resistant to medical treatment may complete the phenotype and is associated with a milder phenotype. This report discusses the case of a girl who presented neonatal ectopic periarticular calcifications with spontaneous regression, and then at the age of 3 years developed HR. There was no clinical improvement after treatment with calcitriol and phosphate, and correction of alkaline phosphatase induced the recurrence of periarticular and tissular calcifications : the treatment was reduced and the bone distortion treated by surgery. GACI diagnosis was confirmed by genetic analysis. At the age of 4.5 years, she developed a retinal abnormality and decreased radial pulse: these clinical signs are usually observed in pseudoxanthoma elasticum (PXE). It is now established that GACI and PXE belong to the same entity characterized by arterial and tissular calcifications of which this original case report is an illustration. PMID:24768072

  12. Compartment syndrome after gynecologic operations: evidence from case reports and reviews.

    PubMed

    Bauer, Emanuel C A; Koch, Nicolina; Janni, Wolfgang; Bender, Hans G; Fleisch, Markus C

    2014-02-01

    Compartment syndrome (CS) of the lower leg is a rare but severe complication of operations in the lithotomy (LT) position after urologic, gynecologic and general surgery. A delay in diagnosis and treatment can lead to loss of function and even life-threatening complications. The pathophysiology is still not fully understood but it is believed that ischemia as a result of increased compartment pressure and decreased perfusion pressure may lead to CS. The type of leg support and the intraoperative hypotension have been discussed as risk factors but evidence is mainly based on case reports and expert opinion. Studies suggest that time spent in the LT position and the addition of head-down tilt are associated with CS. As these positions are routinely applied during various gynecologic procedures, forensically CS has to be considered as a specific complication of gynecologic surgery in the LT position. Despite the low incidence there is a need for prospective studies and guidelines for its prevention. Sixteen case reports describing 19 cases of CS following gynecologic surgery in lithotomy position were found during a literature search. This review is based on 14 of these case reports (17 cases), which describe a postoperative compartment syndrome in a previously healthy leg. We summarize the reported cases and literature on CS after gynecologic procedures in order to increase awareness among medical staff and to give careful recommendations regarding perioperative management based on available information. PMID:24290432

  13. A case of Marfan’s syndrome with multi-level aortic dissections

    PubMed Central

    Khosravi, Alireza; Behjati, Mohaddeseh; Nilforoush, Peyman; Saieedi, Mahmoud; Balouchi, Abbas

    2014-01-01

    BACKGROUND Although Marfan’s syndrome is a disease with various phenotypes, but the major mechanism of death is cardiovascular complication. Aortic dissection is a major cause of death in Marfan syndrome. CASE REPORT A 30-year-old man with severe refractory chest and left flank pain and history of previously surgically repaired Type A aortic dissection was referred to the hospital. His typical manifestations of Marfan’s syndrome were identified. Cardiovascular imaging showed an acute spiral dissection in the descending aorta extending to the left renal and femoral arteries with no evidence of thrombosis in its huge false lumen (8 cm). By the diagnosis of acute, expanded, spiral, Type B aortic dissection, he underwent the stent grafting of dissected aorta. He discharged without any complication. On follow-up cardiovascular imaging, thrombosed false lumen in stented aorta from descending aorta to the proximal abdominal aorta was seen. CONCLUSION Endovascular treatment of Type B dissection is an effective treatment in Type B dissection, even in patients with Marfan syndrome. PMID:25815023

  14. [Gonosomal trisomy syndrome. Five case reports and review of literature].

    PubMed

    Schwemmle, C; Jungheim, M; Ptok, M

    2013-11-01

    Gonosomal trisomies (GT) or so called sex chromosome trisomies (SCTs) are the most common chromosomal abnormalities in humans. The addition of extra X and/or Y chromosomes leads to neurodevelopmental differences, with increased risk for developmental delays, cognitive impairments, executive dysfunction, and behavioural and psychological disorders. Attentional problems, hyperactivity, autistic spectrum disorders and impulsivity are commonly described. Rates of language and communication problems are high in all 3 trisomies. Especially in cases of language impairment ENT specialists may be the main contact to rule out hearing loss. Here, we present 5 patients with SCT. In 2 boys and a young man, SCT was already known (47,XXY; 47,XYY; 47,XYY), in 2 cases we initiated genetic investigation (47,XXX; 47,XXY). Main symptom of the 4 children was a language delay; the young man reported had a history of mild language and motor coordination delay, too. Main complaints of the adult patient were problems with speech-in-noise perception. Furthermore 2 of the patients had mild facial dysmorphic features. The prognosis of the development in patients with SCT is variable, depending on severity of the manifestations and on quality and timing of treatment. Furthermore, in children with motor development/language delay a chromosomal analysis may be initiated at least at the request of the parents to clarify the etiology of developmental abnormalities. If the suspicion of hearing impairment as the cause of problems is not confirmed in a patient, ENT specialists should also consider SCA as a possible cause in the differential diagnosis. PMID:23929211

  15. Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh

    PubMed Central

    Sayeed, Md. Zahidus; Salam, Md. Abdus; Haque, Md. Zahirul; Islam, A.K.M. Monwarul

    2014-01-01

    Brugada syndrome is an inherited cardiac arrhythmia that follows autosomal dominant transmission and can cause sudden death. We report a case of Brugada syndrome in a 55-year-old male patient presented with recurrent palpitation, atypical chest pain and presyncope. ECG changes were consistent with type 1 Brugada. Gene analysis revealed a novel missense mutation in SCN5A gene with a genetic variation of D785N and a nucleotide change at 2353G-A. One of his children also had the same mutation. To our knowledge this is the first genetically proved case of Brugada syndrome in Bangladesh. PMID:24581105

  16. Brugada syndrome with a novel missense mutation in SCN5A gene: a case report from Bangladesh.

    PubMed

    Sayeed, Md Zahidus; Salam, Md Abdus; Haque, Md Zahirul; Islam, A K M Monwarul

    2014-01-01

    Brugada syndrome is an inherited cardiac arrhythmia that follows autosomal dominant transmission and can cause sudden death. We report a case of Brugada syndrome in a 55-year-old male patient presented with recurrent palpitation, atypical chest pain and presyncope. ECG changes were consistent with type 1 Brugada. Gene analysis revealed a novel missense mutation in SCN5A gene with a genetic variation of D785N and a nucleotide change at 2353G-A. One of his children also had the same mutation. To our knowledge this is the first genetically proved case of Brugada syndrome in Bangladesh. PMID:24581105

  17. First rib fracture and Horner’s syndrome due to a motor vehicle collision: a case report

    PubMed Central

    2013-01-01

    A case of a first rib fracture and Horner's syndrome due to a motor vehicle collision is reported. Initial evaluation in a hospital emergency department and follow-up by a medical primary care physician failed to provide identification of the Horner’s syndrome. Careful assessment and review of the patient’s symptoms, signs and images revealed this uncommon and important neurologic case presentation. A brief discussion related to traumatic first rib fracture, Horner’s syndrome and arterial dissections of the neck is provided. PMID:23830309

  18. A case of late-onset Li-Fraumeni-like syndrome with unilateral breast cancer.

    PubMed

    Cho, Yonggeun; Kim, Juwon; Kim, Yoonjung; Jeong, Joon; Lee, Kyung-A

    2013-05-01

    Li-Fraumeni syndrome (LFS) is a rare, inherited syndrome associated with increased risk of various early-onset tumors. Since the introduction of classic LFS criteria, various criteria have been proposed to include patients with incomplete LFS features, which make up Li-Fraumeni-like syndromes (LFL). Germline missense mutations of TP53 are the primary cause of LFS and LFL. Mutations mostly reside in the DNA-binding domain of the gene and have a dominant-negative effect (DNE) over alternate wild-type alleles. Germline TP53 mutation c.566C>T results in the missense mutation GCC (Ala) to GTC (Val) at codon 189 (A189V) and has been reported in a case of multiple primary colon tumors. Herein we report a second case of the same mutation in a breast cancer patient, who has familial history of late-onset malignancies. Due to the relatively late onset of malignancies, neither case fulfils previously defined criteria for the syndrome. Mutational analysis for breast tissue in this patient showed a loss of heterozygosity. These clinical features may suggest a relatively weak DNE of A189V compared to other TP53 mutations, and in silico predictions and in vitro findings of the function of A189V mutant protein are conflicting. Considering the increased risk of malignancies and the therapeutic implications for patients who have a TP53 mutation, care must be taken when treating those who are suspected of possessing cancer-prone traits due to TP53 mutation, especially when there is a family history of late-onset cancer with low penetrance. PMID:23667851

  19. Crowned Dens Syndrome: A Case Report and Review of the Literature

    PubMed Central

    Lee, Gwang Soo; Park, Hyung Ki; Chang, Jae Chil

    2014-01-01

    The crowned dens syndrome (CDS), also known as periodontoid calcium pyrophosphate dehydrate crystal deposition disease, is typified clinically by severe cervical pain, neck stiffness and atlantoaxial synovial calcification which could be misdiagnosed as meningitis, epidural abscess, polymyalgia rheumatica, giant cell arthritis, rheumatoid arthritis, cervical spondylitis or metastatic spinal tumor. Crystalline deposition on cervical vertebrae is less well known disease entity and only a limited number of cases have been reported to date. Authors report a case of CDS and describe the clinical feature. PMID:24891867

  20. Andes virus and first case report of Bermejo virus causing fatal pulmonary syndrome.

    PubMed

    Padula, Paula; Della Valle, Marcelo González; Alai, María Garcia; Cortada, Pedro; Villagra, Mario; Gianella, Alberto

    2002-04-01

    Two suspected hantavirus pulmonary syndrome (HPS) cases from Bolivia occurred in May and July 2000 and were confirmed by enzyme-linked immunosorbent assay (ELISA)-ANDES using N-Andes recombinant antigen serology. Clot RNAs from the two patients were subjected to reverse transcription-polymerase chain reaction (PCR) amplification and sequencing. We describe two characterized cases of HPS. One was caused by infection with Bermejo virus and the other with Andes Nort viral lineage, both previously obtained from Oligoryzomys species. This is the first report of molecular identification of a human hantavirus associated with Bermejo virus. PMID:11971782

  1. Propofol infusion syndrome resuscitation with extracorporeal life support: a case report and review of the literature

    PubMed Central

    2013-01-01

    We report a case of propofol infusion syndrome (PRIS) in a young female treated for status epilepticus. In this case, PRIS rapidly evolved to full cardiovascular collapse despite aggressive supportive care in the intensive care unit, as well as prompt discontinuation of the offending agent. She progressed to refractory cardiac arrest requiring emergent initiation of venoarterial extracorporeal membrane oxygenation (ECMO) during cardiopulmonary resuscitation (CPR). She regained a perfusing rhythm after prolonged (>8 hours) asystole, was weaned off ECMO and eventually all life support, and was discharged to home. We also present a review of the available literature on the use of ECMO for PRIS. PMID:24059786

  2. Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report.

    PubMed

    Chen, Sheng; Hong, Yuan; Sherchan, Prativa; Zhang, Jian-Min

    2014-01-01

    Arterial tortuosity syndrome (ATS) is an extremely rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of all major arteries. We report a clinical case of a girl with this rare condition, who initially presented with epilepsy. DSA or MRA revealed a severe arterial tortuosity. EEG showed epileptiform discharge in right frontotemporal hemisphere. Here, we report the first case of ATS presenting with epilepsy. We discussed the possible clinical implications of this rare clinical presentation. Moreover, we suggest that some patients presenting with epilepsy might need serious cerebral vascular evaluation and ATS needs to be considered in the differential diagnosis. PMID:24848186

  3. Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report*

    PubMed Central

    Gontijo, Gabriela Maria Abreu; Pinto, Clóvis Antonio Lopes; Rogatto, Silvia Regina; da Cunha, Isabela Werneck; Aguiar Junior, Samuel; Alves, Célia Antônia Xavier de Moraes

    2013-01-01

    Bannayan-Riley-Ruvalcaba Syndrome is a rare condition caused by mutations in the PTEN gene. It displays association of multiple lipomas, macrocephaly, hemangiomas, hamartomatous intestinal polyposis, developmental delay and speckled pigmented maculae on the male genitalia. We report the case of a nine-month-old boy who had fast growing and progressive tumors for three months, macrocephaly and lentigines on the penis. Imaging tests showed extensive lipomatosis with invasion of paraspinal muscles, enlargement of the spinal canal and spinal cord compression; after surgical excision of the mass, the pathology was consistent with lipoma. Adipocyte culture karyotype demonstrated PTEN mutation. We present this case for its rarity and exuberance. PMID:24474112

  4. Impaired endothelial function in pediatric patients with turner syndrome and healthy controls: a case-control study

    PubMed Central

    2012-01-01

    Background Turner Syndrome women are at high risk of vascular disease and the assessment of early risk factors in Turner Syndrome girls is an emerging focus of research. Our objective was to evaluate endothelial function (EF), a preclinical measure of atherosclerosis, in Turner Syndrome girls compared with controls. Methods A cross-sectional case-control study of Turner Syndrome girls and healthy controls. Subjects underwent fasting insulin and glucose with calculation of HOMA-IR, fasting lipid profile, anthropometrics, and EF testing using peripheral arterial tonometry (PAT). Subjects, aged 10-18 years, had karyotype-confirmed Turner Syndrome; growth hormone (GH), thyroxine and estrogen use were not exclusion criteria. Controls were age- and BMI-matched healthy girls. Fifteen Turner Syndrome and 15 controls were recruited. Results Turner Syndrome girls had lower height, higher HDL and higher waist:height ratio than controls. PAT-hyperemia ratio (RH-PAT) scores were lower in Turner Syndrome (1.64 ± 0.34 vs. 2.08 ± 0.32, p = 0.002) indicating impaired EF. Among Turner Syndrome, RH-PAT did not vary with estrogen therapy or with karyotype 45,XO compared with other karyotypes. However, endothelial function was better in GH-treated compared with GH-untreated Turner Syndrome (1.80 ± 0.36 vs. 1.4 + 0.22, p = 0.02) although there were no differences in HOMA-IR, adiponectin or IGF-1. Conclusion Girls with Turner Syndrome exhibit impaired endothelial function compared with controls, which may explain higher risk for vascular disease. GH may protect endothelial function in Turner Syndrome. PMID:22472028

  5. Prader-Willi syndrome, excessive daytime sleepiness, and narcoleptic symptoms: a case report

    PubMed Central

    2014-01-01

    Introduction Sleep abnormalities, including narcolepsy and cataplexy, are a common feature of Prader-Willi syndrome. Long-term treatment with the central nervous system stimulant modafinil has not been reported. In this case report we present a longitudinal perspective of sleep abnormalities in a nine-year-old Caucasian girl with Prader-Willi syndrome from age two to age nine, and detail the response to treatment with the central nervous system stimulant modafinil. Case presentation Our patient presented at two years of age with hypersomnia and narcoleptic episodes with cataplectic features. Initial polysomnograph testing revealed adequate sleep efficiency, but increased sleep fragmentation especially during rapid eye movement sleep. The narcoleptic episodes continued and a repeat polysomnograph at age five years confirmed features consistent with narcolepsy. Further sleep studies at six years, including a multiple sleep latency test, demonstrated signs of excessive daytime sleepiness. Treatment with modafinil was initiated at age seven years six months due to persistent hypersomnia and narcoleptic symptoms. Two polysomnograph studies were performed following treatment with modafinil, at age eight years six months and nine years three months. These studies showed excellent sleep efficiency and improvement of rapid eye movement sleep parameters, supporting the beneficial effects of long-term modafinil therapy. Conclusions Long-term modafinil therapy may ameliorate the sleep disturbances of Prader-Willi syndrome and should be the focus of future clinical trials. PMID:24742112

  6. A Case of Swyer Syndrome Associated with Advanced Gonadal Dysgerminoma Involving Long Survival

    PubMed Central

    Da Silva Rios, Salete; Monteiro, Isabella Christina Mazzaro; Braz dos Santos, Larissa Gonçalves; Caldas, Natasha Garcia; Chen, Ana Carolina Rios; Chen, Juliana Rios; Silva, Helena Spindola Camargo

    2015-01-01

    Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The current case report describes a patient with Swyer syndrome associated with stage 3 gonadal dysgerminoma who has survived for 23 years. At age 18, this patient sought assistance for primary amenorrhea from the Gynecological Services Department of the University of Brasília Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts, and pubic hair; she presented with a eutrophic vagina and a small cervix. She was treated with a combination of estrogens and progestogens to induce cycling. Approximately 4 years later, a complex tumor was found and resected; a histopathological analysis revealed that this tumor was a right adnexal dysgerminoma with peritoneal affection. The patient was also subjected to chemotherapy. Her follow-up has continued to the present time, with no signs of tumor recurrence. In conclusion, this report describes an extremely rare case in which Swyer syndrome was associated with ovarian dysgerminoma; relative to similar patients, the described patient has survived for an unusually prolonged time. PMID:25960730

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

    PubMed

    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. PMID:20972726

  8. Case Report: Severe form of hemolytic-uremic syndrome with multiple organ failure in a child: a case report

    PubMed Central

    Mijatovic, Dino; Blagaic, Ana; Zupan, Zeljko

    2014-01-01

    Introduction: Hemolytic-uremic syndrome (HUS) is a leading cause of acute renal failure in infants and young children. It is traditionally defined as a triad of acute renal failure, hemolytic anemia and thrombocytopenia that occur within a week after prodromal hemorrhagic enterocolitis. Severe cases can also be presented by acute respiratory distress syndrome (ARDS), toxic megacolon with ileus, pancreatitis, central nervous system (CNS) disorders and multiple organ failure (MOF). Case presentation: A previously healthy 4-year old Caucasian girl developed acute renal failure, thrombocytopenia and hemolytic anemia following a short episode of abdominal pain and bloody diarrhea. By the end of the first week the diagnosis of the typical HUS was established. During the second week the disease progressed into MOF that included ileus, pancreatitis, hepatitis, coma and ARDS, accompanied by hemodynamic instability and extreme leukocytosis. Nonetheless, the girl made a complete recovery after one month of the disease. She was successfully treated in the intensive care unit and significant improvement was noticed after plasmapheresis and continuous veno-venous hemodialysis. Conclusions: Early start of plasmapheresis and meticulous supportive treatment in the intensive care unit, including renal placement therapy, may be the therapy of choice in severe cases of HUS presented by MOF. Monitoring of prognostic factors is important for early performance of appropriate diagnostic and therapeutical interventions. PMID:25075296

  9. Successful Pregnancy Outcome in A Case of Eisenmenger Syndrome: A Rare Case Report

    PubMed Central

    Samal, Sunil Kumar

    2014-01-01

    Pregnancy complicated with Eisenmenger syndrome is associated with high risk to the fetus as well as the mother. There is approximately 50% risk of sudden maternal death, frequently occuring a few days postpartum and the overall fetal wastage is reported to be up to 75%. Patients with Eisenmenger syndrome are advised to refrain from pregnancy or to terminate pregnancy by the end of first trimester itself. Management of these patients requires a co-ordinated multi-specialist care when such pregnancies reach a stage where safe termination is not advisable. However, inspite of all the risks, a few patients deliver successfully with a good maternal and neonatal outcome. We present a 27-year-old unbooked G3P1A1L0 admitted at 34 wk gestation with Eisenmenger syndrome. She was treated medically during pregnancy, underwent elective Caesarean section at 37 wk of gestation delivered a healthy baby and was subsequently discharged on the 10th postoperative day without any serious complications. PMID:25478416

  10. Case definitions for chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME): a systematic review

    PubMed Central

    Brurberg, Kjetil Gundro; Fønhus, Marita Sporstøl; Larun, Lillebeth; Flottorp, Signe; Malterud, Kirsti

    2014-01-01

    Objective To identify case definitions for chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME), and explore how the validity of case definitions can be evaluated in the absence of a reference standard. Design Systematic review. Setting International. Participants A literature search, updated as of November 2013, led to the identification of 20 case definitions and inclusion of 38 validation studies. Primary and secondary outcome measure Validation studies were assessed for risk of bias and categorised according to three validation models: (1) independent application of several case definitions on the same population, (2) sequential application of different case definitions on patients diagnosed with CFS/ME with one set of diagnostic criteria or (3) comparison of prevalence estimates from different case definitions applied on different populations. Results A total of 38 studies contributed data of sufficient quality and consistency for evaluation of validity, with CDC-1994/Fukuda as the most frequently applied case definition. No study rigorously assessed the reproducibility or feasibility of case definitions. Validation studies were small with methodological weaknesses and inconsistent results. No empirical data indicated that any case definition specifically identified patients with a neuroimmunological condition. Conclusions Classification of patients according to severity and symptom patterns, aiming to predict prognosis or effectiveness of therapy, seems useful. Development of further case definitions of CFS/ME should be given a low priority. Consistency in research can be achieved by applying diagnostic criteria that have been subjected to systematic evaluation. PMID:24508851

  11. Lifestyle modifications and the resolution of obstructive sleep apnea syndrome: a case report

    PubMed Central

    Gala, Thaddeus R.; Seaman, David R.

    2011-01-01

    Objective This purpose of this case study is to describe a natural method to help in management of obstructive sleep apnea syndrome (OSAS), which is known to be a common and debilitating condition. Clinical Features Obstructive sleep apnea syndrome is typically managed with a continuous positive airway pressure (CPAP) device, which the patient wears during sleep to help maintain respiration. This report describes the chiropractic management and resolution of OSAS with dietary modifications in a 55-year-old man who wore a CPAP for 10 years. Intervention and Outcome After adhering to dietary modifications for 3 months, the patient no longer required the use of the CPAP device and continues to have a normal active lifestyle almost 7 years later. Conclusion Dietary modifications may be an effective tool to improve the management of OSAS. PMID:22014867

  12. A Case of Hyperventilation Syndrome Mimicking Complex Partial Seizure: Usefulness of EEG Monitoring in Emergency Department

    PubMed Central

    Kang, Bong Su

    2015-01-01

    Acute hyperventilation syndrome not only can be clinically misdiagnosed as epileptic seizures, but also complex partial seizures may involve hyperventilation as a part of aura. Although electrography (EEG) monitoring is one of the most important procedure to differentiate these conditions, it could not be widely used in emergency department. Variety forms of epileptic attack, mainly idiopathic generalized epilepsy, are provoked by voluntary hyperventilation. In contrast, it is not clear whether hyperventilation can activate the partial seizures. We reported a case of acute hyperventilation syndrome (HSV) mimicking first onset complex partial seizure, impending non-convulsive status epilepticus, which was diagnosed by EEG in the emergency department. The electrographic seizure was provoked again by voluntary hyperventilation after clinical improvement.

  13. Clinical, pathological, and neuroimaging analyses of two cases of Leigh syndrome in a Chinese family.

    PubMed

    Jin, Taoran; Shen, Hongrui; Zhao, Zhe; Hu, Jing

    2014-11-01

    In this study, the authors examined the clinical manifestations, skeletal muscle pathological characteristics, and neuroimaging results of 2 cases of Leigh syndrome in a Chinese family. The 2 patients presented with general weakness, and 1 of them presented with an impairment of vision. Skeletal muscle biopsies showed a deficiency in cytochrome c oxidase levels. Brain magnetic resonance imaging showed increased T1 and T2 signal intensities in the centrum ovale and dentate nucleus. Diffusion-weighted imaging showed a high-intensity signal. Magnetic resonance spectroscopy showed elevated levels of lactic acid in lesions. The examination of 1 patient at disease onset and during disease remission showed that the lesions detected by magnetic resonance imaging and diffusion-weighted imaging, and the peak for lactic acid detected by magnetic resonance spectroscopy, decreased during remission. These data suggest that changes in the imaging results of patients with Leigh syndrome correlate with disease course and pathogenetic condition. PMID:24413359

  14. Structure and anti-structure in the culture-bound syndromes: The Malay case.

    PubMed

    Lee, R L

    1981-09-01

    Turner's concepts of structure and anti-structure are applied to the culture-bound syndromes to demonstrate that they are dialectical aspects of cultural reality, The Malay cases of amok, latah and possession hysteria are discussed as instances of anti-structural behaviors that dramatize role-reversals and role-enhancement. The performers of these behaviors are not subjected to the Malay code of moral conduct. The supernatural ethos in Malay culture plays an important role in shaping tolerance towards them. Although this tolerance has been gradually eroded as a result of the introduction of Western psychiatry, the anti-structural status of these syndromes has not faded away but has assumed new meanings in terms of psychopathology. PMID:7318487

  15. Dropped head syndrome due to myogenic atrophy - a case report of surgical treatment.

    PubMed

    Zenmyo, Michihisa; Abematsu, Masahiko; Yamamoto, Takuya; Ishidou, Yasuhiro; Komiya, Setsuro; Ijiri, Kosei

    2011-01-01

    We report a case of a 69-year-old man with dropped head syndrome associated with isolated neck extensor myopathy (INEM). Over a period of 2 years, he exhibited progressive inability to lift his chin off his chest, resulting in the dropped head position that impaired his activities of daily living. He had a disturbed gait with severe imbalance of spinal alignment. Computed tomography revealed osseous contracture of cervical vertebral bodies in flexed position. Anterior combined posterior reconstruction surgery yielded a successful outcome in his activities of daily living, including his walking balance of spinal alignment. Pathologic study confirmed myogenic atrophy in the cervical extensor muscles. We suggest that consideration for surgical management should be given to dropped head syndrome especially due to INEM. PMID:21247445

  16. Targeted Therapy with Rituximab in Felty’s Syndrome: A Case Report

    PubMed Central

    Heylen, Line; Dierickx, Daan; Vandenberghe, Peter; Westhovens, René

    2012-01-01

    Felty’s syndrome is a rare, severe extra-articular manifestation of rheumatoid arthritis (RA). There is no standard therapy, and several disease-modifying antirheumatic drugs have been used with varying success. Only very few reports exist in literature on the use of biologicals in this indication and this with a variable efficacy. We report the case of a 53-year-old woman with severe refractory/partly undertreated RA who presented with Felty’s syndrome and pancytopenia, in whom treatment with rituximab led to an marked increase of red blood cells, neutrophils and thrombocytes. In addition, the RA disease activity status improved dramatically and treatment with steroids could be reduced. The current sparse literature on this topic is reviewed. PMID:23198005

  17. Parry-Romberg Syndrome: A Case of Late Onset with Rapid Progression

    PubMed Central

    Kumar, Dinesh; Kumar, Ramesh; Rajkumar; Prabhakar, Ramachandra

    2014-01-01

    Parry–Romberg syndrome (PRS) or progressive hemifacial atrophy is rare, poorly understood condition with an unclear aetiology and characterized by slow and progressive atrophy affecting one side of the face. PRS is a syndrome with diverse presentation and the most common early sign is a painless cleft, the “coup de sabre” near the midline of the face which marks the boundary between the normal and atrophic tissues. Characteristically, the atrophy starts in the first decade of life and progresses slowly for several years before it becomes quiescent. This article describes a case of PRS in a 19-year-old female patient affecting the right side of the face which is unique in the fact that it had a late onset with rapid progression. PMID:25386541

  18. Duloxetine in the treatment of burning mouth syndrome refractory to conventional treatment: A case report.

    PubMed

    Kim, Yeon-Dong; Lee, Ji-Hye; Shim, Jee-Hoon

    2014-06-01

    Patients with burning mouth syndrome (BMS) report burning sensation and pain involving the tongue and oral mucosa without any apparent medical or dental cause. The pathogenesis of this syndrome remains unclear and there is currently no standard treatment. BMS is, therefore, often misdiagnosed and its management is complex. This lack of clinical expertise may result in decreased health-related quality of life and increased psychological distress among patients with BMS. The present case report involves a 77-year-old female patient with BMS refractory to conventional treatment with nerve block and medication, who was successfully treated with duloxetine. Duloxetine may become a new therapeutic option in the management of BMS. PMID:24743872

  19. A Case of False Negative NIPT for Down Syndrome-Lessons Learned

    PubMed Central

    Lewis, Kimberly M.; Holmes, Alexandrea

    2014-01-01

    Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. With the successful introduction of noninvasive prenatal testing (NIPT) for Down syndrome into routine prenatal care, it is important to understand the risks, benefits, and limitations in order to guide patients in making an informed decision. Herein, we describe the first published case report of a patient whose fetus tested “negative” for Trisomy 21 by NIPT but was diagnosed postnatally with trisomy 21. We present the importance of proper pretest and posttest genetic counseling to ensure prenatal patients are able to make informed decisions and are educated appropriately about NIPT. PMID:24649382

  20. Churg-Strauss Syndrome as an Unusual Cause of Dysphagia: Case Report

    PubMed Central

    Park, Jihye; Moon, Su-Jin; Park, Geun-Young; Jang, Yongjun; Kim, Yeonjin

    2015-01-01

    Systemic vasculitis is a rare disease, and the diagnosis is very difficult when patient shows atypical symptoms. We experienced an unusual case of dysphagia caused by Churg-Strauss syndrome with lower cranial nerve involvement. A 74-year-old man, with a past history of sinusitis, asthma, and hearing deficiency, was admitted to our department for evaluation of dysphagia. He also complained of recurrent bleeding of nasal cavities and esophagus. Brain magnetic resonance imaging did not show definite abnormality, and electrophysiologic findings were suggestive of mononeuritis multiplex. Dysphagia had not improved after conventional therapy. Biopsy of the nasal cavity showed extravascular eosinophilic infiltration. All these findings suggested a rare form of Churg-Strauss syndrome involving multiple lower cranial nerves. Dysphagia improved after steroid therapy. PMID:26161355