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1

[Case report of Laurence-Moon-Bardet-Biedl syndrome].  

PubMed

We report a case of Laurence-Moon-Bardet-Biedl Syndrome with all five recognised features: tapetoretinal dystrophy, polydactily, obesity, mental retardation and hypogonadism. Nevertheless the correct diagnosis was delayed due to the fact, that the patient has a macular dystrophy (instead of a pigmentary retinopathy). He had an operation of the polydactily during childhood. This was not revealed at first. The case underlines the importance of an exact anamnesis of the parents. PMID:1886381

Osusky, R; Alsaadi, A H; Farpour, H

1991-05-01

2

A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome  

PubMed Central

Bardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration. Here, we report a novel case that suggests a rod-sparing variant of Bardet-Biedl syndrome. PMID:25759667

Chiu, Cynthia S.; Mantopoulos, Dimosthenis; Lessell, Simmons; Cestari, Dean M.

2015-01-01

3

A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.  

PubMed

Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS phenotype. Although recent pathophysiological studies using animal models have shown that ciliary dysfunction may induce hydrocephalus, there have been no reports of BBS with intracranial hypertension. We here describe a 9-year-old Japanese girl who was diagnosed as having BBS and later received renal transplantation due to chronic renal failure. She also exhibited intracranial hypertension, including papilledema and increased intrathecal pressure (260-300 mmH2O), but her brain magnetic resonance imaging was normal. No genetic abnormalities were detected by DNA chip analysis or exome sequencing. Her papilledema improved following administration of acetazolamide. This is the first report of a case of BBS complicated with intracranial hypertension and its treatment. PMID:24290075

Saida, Ken; Inaba, Yuji; Hirano, Makito; Satake, Wataru; Toda, Tatsushi; Suzuki, Yutaka; Sudo, Asuka; Noda, Shunsuke; Hidaka, Yoshihiko; Hirabayashi, Kazutaka; Imai, Hiroki; Kurokawa, Toru; Koike, Kenichi

2014-09-01

4

Bardet-Biedl syndrome, renal transplant and percutaneous nephrolithotomy: a case report and review of the literature  

PubMed Central

Bardet-Biedl syndrome is an autosomal recessive disorder with obesity, polydactly, retinitis pigmentosa, hypogenitalism, intellectual impairment and varying degree of renal abnormalities. Fewer than ten cases of paediatric renal transplantation for BBS have been reported in literature so far. This is the only case report of BBS transplant urolithiasis which was dealt with percutaneous nephrolithotomy and has been stone free for seven years. This is a complex case with a rare genetic disorder, renal transplant, renal stone, ileal conduit, long loop and inversely placed kidney. This case exemplifies the need for multidisciplinary management of complex cases and emphasises PCNL as the safe method. PMID:19829857

Polizois, Konstantinos; Bradley, Alison J; Rao, Poduri N

2009-01-01

5

[Laurence-Moon-Bardet-Biedl syndrome].  

PubMed

In 1984, 32 persons with Laurence-Moon-Bardet-Biedl syndrome (LMBB) were registered in Norway. This means that the disorder was seen at a rate of 1 in 128,000 inhabitants. Of these, 26 attended the Frambu Health Centre, where they consulted a pediatrician, a psychologist, a dentist, a social worker, a geneticist, a teacher for the blind and an ophthalmologist. The cardinal signs were retinitis pigmentosa, obesity and polydactyly. We also found that all the patients had disturbance of tooth formation. Many had hypogenitalism. Mental retardation is usually included as a cardinal sign. Our impression is that most of the patients have normal intelligence. But this will be investigated further in a follow-up study on young people with LMBB. PMID:2349067

Lofterřd, B; Riise, R; Skuseth, T; Storhaug, K

1990-01-01

6

Dissection of epistasis in oligogenic Bardet-Biedl syndrome  

Microsoft Academic Search

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

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

7

Autism: a rare presentation of Bardet-Biedl syndrome.  

PubMed

Although mental retardation is generally associated with Bardet-Biedl (BBS) syndrome, a rare autosomal recessive disorder with multisystem involvement, autism is an unusual comorbidity. An 8-year-old boy presented to our psychiatry department with poor social skills and night blindness. On further assessment autism, mild mental retardation, retinitis pigmentosa, polydactyly and syndactyly, obesity, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of BBS was made. To the best of our knowledge, this is the first reported case of BBS with autism from eastern India; it also emphasises the importance of thorough physical examination even in a patient presenting with pure psychiatric symptoms. PMID:24899006

Chatterjee, Seshadri Sekhar; Guha, Prathama; Talukdar, Arunansu; Dasgupta, Gargi

2014-01-01

8

Bardet–Biedl syndrome: A rare cause of end stage renal disease  

PubMed Central

Bardet–Biedl syndrome is a rare autosomal recessive disorder, recently categorized as ciliopathy characterized by dysfunction of primary cilia which results in myriad manifestations in various organ systems. Though renal abnormalities can occur in this syndrome, renal failure is a rare presentation. The author reports a case of 18-year-old female who presented with polydactyly, obesity, retinitis pigmentosa, learning disability and renal failure. PMID:25664275

Hemachandar, R

2015-01-01

9

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy  

PubMed Central

Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology, which has in turn contributed to the improved understanding of the functions of the primary cilium in humans and other vertebrates. Here we discuss the evidence linking the clinical BBS phenotype to ciliary defects, highlight how the genetic and cellular characteristics of BBS overlap with and inform other ciliary disorders, and explore the possible mechanistic underpinnings of ciliary dysfunction. PMID:19252258

Zaghloul, Norann A.; Katsanis, Nicholas

2009-01-01

10

Visual acuity and retinal function in patients with Bardet-Biedl syndrome  

PubMed Central

OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism. The purpose of this study was to analyze visual acuity and full-field electroretinogram findings in patients with the Bardet-Biedl syndrome phenotype. METHODS: The visual acuity of a group of 23 patients (15 males) with ages ranging from 6-36 years (mean?=?15.8±6.4; median?=?14.7) was assessed. Retinal function was evaluated by full-field electroretinography, and dark-adapted thresholds were assessed. RESULTS: Visual acuity in the better-seeing eye was 20/40 or better in 5 patients (21.7%), 20/50-20/150 in 13 (56.5%) patients, 20/200-20/400 in 2 (8.7%) patients and worse than 20/400 in one (4.3%) patient. The mean acuity in the better-seeing eye was 0.7±0.6 logMAR (20/100, Snellen equivalent). Scotopic rod and maximal responses were non-detectable in 21 (91.3%) patients, and cone responses were non-detectable in 15 (65.2%) patients. Elevated dark-adapted visual thresholds were observed in all 19 patients who were able to be assessed, with 10 (52.6%) patients having thresholds greater than 30 dB. CONCLUSIONS: In a relatively young cohort of patients with Bardet-Biedl syndrome, only 21% had 20/40 or better vision. ERG scotopic responses were absent in the majority of cases, with cone responses being observed in less than half of cases. These findings showed the early deleterious effects in retinal function and visual acuity caused by this condition. PMID:22358239

Berezovsky, Adriana; Rocha, Daniel Martins; Sacai, Paula Yuri; Watanabe, Sung Song; Cavascan, Nívea Nunes; Salomăo, Solange Rios

2012-01-01

11

Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.  

PubMed

Bardet-Biedl syndrome is a rare ciliopathy characterized by retinal dystrophy, obesity, intellectual disability, polydactyly, hypogonadism and renal impairment. Patients are at high risk of cardiovascular disease. Mutations in BBS1 and BBS10 account for more than half of those with molecular confirmation of the diagnosis. To elucidate genotype-phenotype correlations with respect to cardiovascular risk indicators 50 patients with mutations in BBS1 were compared with 19 patients harbouring BBS10 mutations. All patients had truncating, missense or compound missense/truncating mutations. The effect of genotype and mutation type was analysed. C-reactive protein was higher in those with mutations in BBS10 and homozygous truncating mutations (p?=?0.013 and p?=?0.002, respectively). Patients with mutations in BBS10 had higher levels of C peptide than those with mutations in BBS1 (p?=?0.043). Triglyceride levels were significantly elevated in patients with homozygous truncating mutations (p?=?0.048). Gamma glutamyl transferase was higher in patients with homozygous truncating mutations (p?=?0.007) and heterozygous missense and truncating mutations (p?=?0.002) than those with homozygous missense mutations. The results are compared with clinical cardiovascular risk factors. Patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 and other BBS1 mutations. This could contribute to stratification of the clinical service. PMID:24611735

Forsythe, E; Sparks, K; Hoskins, B E; Bagkeris, E; McGowan, B M; Carroll, P V; Huda, M S B; Mujahid, S; Peters, C; Barrett, T; Mohammed, S; Beales, P L

2015-04-01

12

Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome  

PubMed Central

Bardet–Biedl syndrome is a rare ciliopathy characterized by retinal dystrophy, obesity, intellectual disability, polydactyly, hypogonadism and renal impairment. Patients are at high risk of cardiovascular disease. Mutations in BBS1 and BBS10 account for more than half of those with molecular confirmation of the diagnosis. To elucidate genotype–phenotype correlations with respect to cardiovascular risk indicators 50 patients with mutations in BBS1 were compared with 19 patients harbouring BBS10 mutations. All patients had truncating, missense or compound missense/truncating mutations. The effect of genotype and mutation type was analysed. C-reactive protein was higher in those with mutations in BBS10 and homozygous truncating mutations (p = 0.013 and p = 0.002, respectively). Patients with mutations in BBS10 had higher levels of C peptide than those with mutations in BBS1 (p = 0.043). Triglyceride levels were significantly elevated in patients with homozygous truncating mutations (p = 0.048). Gamma glutamyl transferase was higher in patients with homozygous truncating mutations (p = 0.007) and heterozygous missense and truncating mutations (p = 0.002) than those with homozygous missense mutations. The results are compared with clinical cardiovascular risk factors. Patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 and other BBS1 mutations. This could contribute to stratification of the clinical service. PMID:24611735

Forsythe, E; Sparks, K; Hoskins, BE; Bagkeris, E; McGowan, BM; Carroll, PV; Huda, MSB; Mujahid, S; Peters, C; Barrett, T; Mohammed, S; Beales, PL

2015-01-01

13

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning  

Microsoft Academic Search

Bardet-Biedl syndrome (BBS) is a pleiotropic, genetically heterogeneous disorder characterized by obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies, as well as hypertension and dia- betes. Multiple genes are known to independently cause BBS. These genes do not appear to code for the same functional category of proteins; yet, mutation of each results in a similar phenotype. Gene knockdown

Marwan K. Tayeh; Hsan-Jan Yen; John S. Beck; Charles C. Searby; Trudi A. Westfall; Hilary Griesbach; Val C. Sheffield; Diane C. Slusarski

2008-01-01

14

Early sonographic aspects of kidney morphology in Bardet-Biedl syndrome  

Microsoft Academic Search

.   Bardet-Biedl syndrome is an autosomal recessive disorder characterized by postaxial hexadactyly, obesity, mental retardation,\\u000a pigmented retinopathy, hypogonadism, and renal disease. Morphological changes are present in all areas of the kidney, the\\u000a renal medulla being the most frequently affected site. Cystic and dysplastic changes are prevalent. Seven children from five\\u000a families were followed from birth through their 5th birthday. Serial

Jürgen Dippell; Despina E. Varlam

1998-01-01

15

Genetic linkage analysis in 26 families with Bardet-Biedl syndrome  

SciTech Connect

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).

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

1994-09-01

16

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

PubMed

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

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

2014-07-01

17

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.  

PubMed

The evolutionarily conserved planar cell polarity (PCP) pathway (or noncanonical Wnt pathway) drives several important cellular processes, including epithelial cell polarization, cell migration and mitotic spindle orientation. In vertebrates, PCP genes have a vital role in polarized convergent extension movements during gastrulation and neurulation. Here we show that mice with mutations in genes involved in Bardet-Biedl syndrome (BBS), a disorder associated with ciliary dysfunction, share phenotypes with PCP mutants including open eyelids, neural tube defects and disrupted cochlear stereociliary bundles. Furthermore, we identify genetic interactions between BBS genes and a PCP gene in both mouse (Ltap, also called Vangl2) and zebrafish (vangl2). In zebrafish, the augmented phenotype results from enhanced defective convergent extension movements. We also show that Vangl2 localizes to the basal body and axoneme of ciliated cells, a pattern reminiscent of that of the BBS proteins. These data suggest that cilia are intrinsically involved in PCP processes. PMID:16170314

Ross, Alison J; May-Simera, Helen; Eichers, Erica R; Kai, Masatake; Hill, Josephine; Jagger, Daniel J; Leitch, Carmen C; Chapple, J Paul; Munro, Peter M; Fisher, Shannon; Tan, Perciliz L; Phillips, Helen M; Leroux, Michel R; Henderson, Deborah J; Murdoch, Jennifer N; Copp, Andrew J; Eliot, Marie-Madeleine; Lupski, James R; Kemp, David T; Dollfus, Hélčne; Tada, Masazumi; Katsanis, Nicholas; Forge, Andrew; Beales, Philip L

2005-10-01

18

Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.  

PubMed

Primary cilia are almost ubiquitously expressed in eukaryotic cells where they function as sensors relaying information either from the extracellular environment or between two compartments of the same cell, such as in the photoreceptor cell. In ciliopathies, a continuously growing class of genetic disorders related to ciliary defects, the modified primary cilium of the photoreceptor, also known as the connecting cilium, is frequently defective. Ciliary dysfunction involves disturbances in the trafficking and docking of specific proteins involved in its biogenesis or maintenance. The main well-conserved ciliary process, intraflagellar transport (IFT), is a complex process carried out by multimeric ciliary particles and molecular motors of major importance in the photoreceptor cell. It is defective in a growing number of ciliopathies leading to retinal degeneration. Retinitis pigmentosa related to ciliary dysfunction can be an isolated feature or a part of a syndrome such as Bardet-Biedl syndrome (BBS). Research on ciliopathies and BBS has led to the discovery of several major cellular processes carried out by the primary cilium structure and has highlighted their genetic heterogeneity. PMID:21477661

Mockel, A; Perdomo, Y; Stutzmann, F; Letsch, J; Marion, V; Dollfus, H

2011-07-01

19

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

SciTech Connect

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.

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

20

Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing  

PubMed Central

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with significant genetic heterogeneity. BBS is linked to mutations in 17 genes, which contain more than 200 coding exons. Currently, BBS is diagnosed by direct DNA sequencing for mutations in these genes, which because of the large genomic screening region is both time-consuming and expensive. In order to develop a practical method for the clinic diagnosis of BBS, we have developed a high-throughput targeted exome sequencing (TES) for genetic diagnosis. Five typical BBS patients were recruited and screened for mutations in a total of 144 known genes responsible for inherited retinal diseases, a hallmark symptom of BBS. The genomic DNA of these patients and their families were subjected to high-throughput DNA re-sequencing. Deep bioinformatics analysis was carried out to filter the massive sequencing data, which were further confirmed through co-segregation analysis. TES successfully revealed mutations in BBS genes in each patient and family member. Six pathological mutations, including five novel mutations, were revealed in the genes BBS2, MKKS, ARL6, MKS1. This study represents the first report of targeted exome sequencing in BBS patients and demonstrates that high-throughput TES is an accurate and rapid method for the genetic diagnosis of BBS. PMID:24608809

Huang, Na; Wu, Kun-Chao; Huang, Xiu-Feng; Huang, Fang; Tong, Yi; Pang, Chi-Pui; Qu, Jia; Jin, Zi-Bing

2014-01-01

21

Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome.  

PubMed

Bardet-Biedl syndrome (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal and cognitive impairment. Recently, disorders of olfaction (anosmia, hyposmia) have been also described in BBS patients. Moreover, morphological brain anomalies have been reported and prompt for further investigations to determine whether they are primary or secondary to peripheral organ involvement (i.e. visual or olfactory neuronal tissue). The objective of this article is to evaluate olfactory disorders in BBS patients and to investigate putative correlation with morphological cerebral anomalies. To this end, 20 BBS patients were recruited and evaluated for olfaction using the University of Pennsylvania Smell Identification Test (UPSIT). All of them underwent a structural magnetic resonance imaging (MRI) scan. We first investigated brain morphological differences between BBS subjects and 14 healthy volunteers. Then, we showed objective olfaction disorders in BBS patients and highlight correlation between gray matter volume reduction and olfaction dysfunction in several brain areas. PMID:24684473

Braun, J-J; Noblet, V; Durand, M; Scheidecker, S; Zinetti-Bertschy, A; Foucher, J; Marion, V; Muller, J; Riehm, S; Dollfus, H; Kremer, S

2014-12-01

22

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

PubMed

Plasmolipin is a membrane protein and belongs to the tetraspan molecule (4TM) family, an expanding group of myelin proteins many of which could be linked to human hereditary demyelinating neuropathies. We have cloned and sequenced the mouse plasmolipin gene, revealing the common organization of the 4TM gene group with four exons and a large first intron. Western blot analysis with an antibody raised against the C-terminal intracellular part of the protein showed that plasmolipin is expressed not only in the nervous system and kidney, but also in a number of other tissues such as thymus, testis, lung, and thyroid gland. By means of radiation hybrid mapping and FISH analysis, we could localize the human plasmolipin gene to Chromosome 16q13 within the putative region of the Bardet-Biedl syndrome type 2 (BBS2) gene locus. BBS2 is a clinically and genetically heterogeneous group of disorders resulting in rod-cone dystrophy, obesity, postaxial polydactyly, renal dysfunction, and mental retardation, which were very recently associated with a novel gene designated BBS2. With respect to intrafamiliar variations in the manifestation of BBS, we suggest that plasmolipin might be either another candidate gene or a modifier of the BBS2 phenotype. PMID:11707781

Hamacher, M; Pippirs, U; Köhler, A; Müller, H W; Bosse, F

2001-12-01

23

Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization  

PubMed Central

Primary cilia are cellular appendages important for signal transduction and sensing the environment. Bardet–Biedl syndrome proteins form a complex that is important for several cytoskeleton-related processes such as ciliogenesis, cell migration and division. However, the mechanisms by which BBS proteins may regulate the cytoskeleton remain unclear. We discovered that Bbs4- and Bbs6-deficient renal medullary cells display a characteristic behaviour comprising poor migration, adhesion and division with an inability to form lamellipodial and filopodial extensions. Moreover, fewer mutant cells were ciliated [48% ± 6 for wild-type (WT) cells versus 23% ± 7 for Bbs4 null cells; P < 0.0001] and their cilia were shorter (2.55 ?m ± 0.41 for WT cells versus 2.16 ?m ± 0.23 for Bbs4 null cells; P < 0.0001). While the microtubular cytoskeleton and cortical actin were intact, actin stress fibre formation was severely disrupted, forming abnormal apical stress fibre aggregates. Furthermore, we observed over-abundant focal adhesions (FAs) in Bbs4-, Bbs6- and Bbs8-deficient cells. In view of these findings and the role of RhoA in regulation of actin filament polymerization, we showed that RhoA-GTP levels were highly upregulated in the absence of Bbs proteins. Upon treatment of Bbs4-deficient cells with chemical inhibitors of RhoA, we were able to restore the cilia length and number as well as the integrity of the actin cytoskeleton. Together these findings indicate that Bbs proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA levels. PMID:23716571

Hernandez-Hernandez, Victor; Pravincumar, Priyanka; Diaz-Font, Anna; May-Simera, Helen; Jenkins, Dagan; Knight, Martin; Beales, Philip L.

2013-01-01

24

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

PubMed

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

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

2013-12-01

25

Subretinal Gene Therapy of Mice With Bardet-Biedl Syndrome Type 1  

PubMed Central

Purpose. To study safety and efficacy of subretinal adeno-associated virus (AAV) vector AAV-Bbs1 injection for treatment of a mouse model of Bardet-Biedl syndrome type 1 (BBS1). Methods. Constructs containing a wild-type (WT) Bbs1 gene with and without a FLAG tag in AAV2/5 vectors were generated. Viral genomes were delivered by subretinal injection to right eyes and sham injections to left eyes at postnatal day 30 (P30) to P60. Transgene expression and BBSome reconstitution were evaluated by immunohistochemistry and Western blotting following sucrose gradient ultracentrifugation. Retinal function was analyzed by electroretinogram (ERG) and structure by optical coherence tomography (OCT). Histology and immunohistochemistry were performed on selected eyes. Results. Expression of FLAG-tagged Bbs1 was demonstrated in photoreceptor cells using antibody directed against the FLAG tag. Coinjection of AAV-GFP demonstrated transduction of 24% to 32% of the retina. Western blotting demonstrated BBS1 protein expression and reconstitution of the BBSome. ERG dark-adapted bright flash b-wave amplitudes were higher in AAV-Bbs1–injected eyes than in sham-injected fellow eyes in more than 50% of 19 animals. Anti-rhodopsin staining demonstrated improved localization of rhodopsin in AAV-Bbs1–treated eyes. WT retinas injected with AAV-Bbs1 with or without a FLAG tag showed outer retinal degeneration on ERG, OCT, and histology. Conclusions. In a knock-in model of BBS1, subretinal delivery of AAV-Bbs1 rescues BBSome formation and rhodopsin localization, and shows a trend toward improved ERG. BBS is challenging to treat with gene therapy due to the stoichiometry of the BBSome protein complex and overexpression toxicity. PMID:23900607

Seo, Seongjin; Mullins, Robert F.; Dumitrescu, Alina V.; Bhattarai, Sajag; Gratie, Daniel; Wang, Kai; Stone, Edwin M.; Sheffield, Val; Drack, Arlene V.

2013-01-01

26

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

PubMed Central

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

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

2014-01-01

27

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

PubMed Central

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

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

2011-01-01

28

Pharmacological Modulation of the Retinal Unfolded Protein Response in Bardet-Biedl Syndrome Reduces Apoptosis and Preserves Light Detection Ability*  

PubMed Central

Ciliopathies, a class of rare genetic disorders, present often with retinal degeneration caused by protein transport defects between the inner segment and the outer segment of the photoreceptors. Bardet-Biedl syndrome is one such ciliopathy, genetically heterogeneous with 17 BBS genes identified to date, presenting early onset retinitis pigmentosa. By investigating BBS12-deprived retinal explants and the Bbs12?/? murine model, we show that the impaired intraciliary transport results in protein retention in the endoplasmic reticulum. The protein overload activates a proapoptotic unfolded protein response leading to a specific Caspase12-mediated death of the photoreceptors. Having identified a therapeutic window in the early postnatal retinal development and through optimized pharmacological modulation of the unfolded protein response, combining three specific compounds, namely valproic acid, guanabenz, and a specific Caspase12 inhibitor, achieved efficient photoreceptor protection, thereby maintaining light detection ability in vivo. PMID:22869374

Mockel, Anais; Obringer, Cathy; Hakvoort, Theodorus B. M.; Seeliger, Mathias; Lamers, Wouter H.; Stoetzel, Corinne; Dollfus, Hélčne; Marion, Vincent

2012-01-01

29

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

PubMed Central

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

2011-01-01

30

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome  

PubMed Central

Background Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research. Methods EURO-WABB is an international multicenter large-scale observational study capturing longitudinal clinical and outcome data for patients with WABB diagnoses. Three hundred participants will be recruited over 3 years from different sites throughout Europe. Comprehensive clinical, genetic and patient experience data will be collated into an anonymized disease registry. Data collection will be web-based, and forms part of the project’s Virtual Research and Information Environment (VRIE). Participants who haven’t undergone genetic diagnostic testing for their condition will be able to do so via the project. Conclusions The registry data will be used to increase the understanding of the natural history of WABB diseases, to serve as an evidence base for clinical management, and to aid the identification of opportunities for intervention to stop or delay the progress of the disease. The detailed clinical characterisation will allow inclusion of patients into studies of novel treatment interventions, including targeted interventions in small scale open label studies; and enrolment into multi-national clinical trials. The registry will also support wider access to genetic testing, and encourage international collaborations for patient benefit. PMID:23981649

2013-01-01

31

Clinical and Genetic Epidemiology of Bardet–Biedl Syndrome in Newfoundland: A 22-Year Prospective, Population-Based, Cohort Study  

PubMed Central

Bardet–Biedl syndrome (BBS) and Laurence–Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to describe the epidemiology of BBS and LMS, further define the phenotype, and examine genotype–phenotype correlation. The study involved 46 patients (26 males, 20 females) from 26 families, with a median age of 44 years (range 1–68 years). Assessments were performed in 1986, 1993, and 2001 and included neurological assessments, anthropometric measurements, and clinical photographs to assess dysmorphic features. The phenotype was highly variable within and between families. Impaired co-ordination and ataxia occurred in 86% (18/21). Thirty percent (14/46) met criteria for psychiatric illness; other medical problems included cholecystectomy in 37% (17/46) and asthma in 28% (13/46). Dysmorphic features included brachycephaly, large ears, and short, narrow palpebral fissures. There was no apparent correlation of clinical or dysmorphic features with genotype. Two patients were diagnosed clinically as LMS but both had mutations in a BBS gene. The features in this population do not support the notion that BBS and LMS are distinct. The lack of a genotype–phenotype correlation implies that BBS proteins interact and are necessary for the development of many organs. PMID:15637713

Moore, Susan J.; Green, Jane S.; Fan, Yanli; Bhogal, Ashvinder K.; Dicks, Elizabeth; Fernandez, Bridget A.; Stefanelli, Mark; Murphy, Christopher; Cramer, Benvon C.; Dean, John C.S.; Beales, Philip L.; Katsanis, Nicholas; Bassett, Anne S.; Davidson, William S.; Parfrey, Patrick S.

2012-01-01

32

Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet–Biedl syndrome  

PubMed Central

Bardet–Biedl syndrome (BBS) is a rare pediatric ciliopathy characterized by marked clinical variability and extensive genetic heterogeneity. Typical diagnosis of BBS is secured at a median of 9 years of age, and sometimes well into adolescence. Here, we report a patient in whom prenatal detection of increased nuchal fold, enlarged echogenic kidneys, and polydactyly prompted us to screen the most commonly mutated genes in BBS and the phenotypically and genetically overlapping ciliopathy, Meckel–Gruber syndrome (MKS). We identified the common Met390Arg mutation in BBS1 in compound heterozygosity with a novel intronic variant of unknown significance (VUS). Testing of mRNA harvested from primary foreskin fibroblasts obtained shortly after birth revealed the VUS to induce a cryptic splice site, which in turn led to a premature termination and mRNA degradation. To our knowledge, this is the earliest diagnosis of BBS in the absence of other affected individuals in the family, and exemplifies how combining clinical assessment with genetic and timely assays of variant pathogenicity can inform clinical diagnosis and assist with patient management in the prenatal and neonatal setting. PMID:22998390

Ashkinadze, E.; Rosen, T.; Brooks, SS.; Katsanis, N.; Davis, EE.

2013-01-01

33

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome  

PubMed Central

Purpose To determine the genetic cause of Bardet-Biedl syndrome (BBS) in two consanguineous Pakistani families. Methods Clinical characterization of the affected individuals in both families was performed with ophthalmic examination, electroretinography, electrocardiography, and liver and renal profiling. Seventeen genes are known to be associated with BBS, so exome sequencing was preferred over candidate gene sequencing. One affected individual from both families was selected for exome sequencing. Segregation of the identified variants was confirmed with Sanger sequencing. Results Retinitis pigmentosa, obesity, and learning difficulties were present in the affected individuals in both families. In family A, a sixth finger (polydactyly) of the proband’s sister was removed by a surgical operation leaving a scar on the little finger. Polydactyly was also present in both affected individuals from family B. All diagnostic symptoms were characteristic of BBS in both families. In both affected individuals from family A, exome sequencing identified a novel homozygous mutation (c.47+1G>T) in BBS1 that inactivates the splice donor site at the end of exon 1. In family B, a previously reported mutation, c.442G>A; p.(Asp148Asn), was detected. Conclusions Exome sequencing is an efficient and cost-effective technique for identifying mutations in genetically heterogeneous diseases. In addition, intrafamilial phenotypic variability in family A argues for the modifying effect of other still unknown modifier alleles. PMID:23559858

Ajmal, Muhammad; Khan, Muhammad Imran; Neveling, Kornelia; Tayyab, Ali; Jaffar, Sulman; Sadeque, Ahmed; Ayub, Humaira; Abbasi, Nasir Mahmood; Riaz, Moeen; Micheal, Shazia; Gilissen, Christian; Ali, Syeda Hafiza Benish; Azam, Maleeha; Collin, Rob W. J.; Cremers, Frans P. M.

2013-01-01

34

Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice  

PubMed Central

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, retinal degeneration, polydactyly, hypogenitalism and renal defects. Recent findings have associated the etiology of the disease with cilia, and BBS proteins have been implicated in trafficking various ciliary cargo proteins. To date, 17 different genes have been reported for BBS among which BBS1 is the most common cause of the disease followed by BBS10, and BBS4. A murine model of Bbs4 is known to phenocopy most of the human BBS phenotypes, and it is being used as a BBS disease model. To better understand the in vivo localization, cellular function, and interaction of BBS4 with other proteins, we generated a transgenic BBS4 mouse expressing the human BBS4 gene under control of the beta actin promoter. The transgene is expressed in various tissues including brain, eye, testis, heart, kidney, and adipose tissue. These mice were further bred to express the transgene in Bbs4 null mice, and their phenotype was characterized. Here we report that despite tissue specific variable expression of the transgene, human BBS4 was able to complement the deficiency of Bbs4 and rescue all the BBS phenotypes in the Bbs4 null mice. These results provide an encouraging prospective for gene therapy for BBS related phenotypes and potentially for other ciliopathies. PMID:23554981

Chamling, Xitiz; Seo, Seongjin; Bugge, Kevin; Searby, Charles; Guo, Deng F.; Drack, Arlene V.; Rahmouni, Kamal; Sheffield, Val C.

2013-01-01

35

Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.  

PubMed

Bardet-Biedl syndrome (BBS) and autosomal dominant polycystic kidney disease (ADPKD) are two genetically distinct ciliopathies but share common phenotypes such as renal cysts. Seven BBS proteins form a complex called the BBSome which is localized at the basal body or ciliary axoneme and regulates the ciliary entry or flagellar exit of several signaling molecules. Here, we demonstrate that, unlike the seven-span somatostatin receptor 3 or the leptin receptor that interacts with all subunits of the BBSome, the ADPKD protein polycystin-1 (PC1) interacts with BBS1, BBS4, BBS5 and BBS8, four of the seven components of the BBSome. Only depletion or mutation of BBS1, but not depletion of BBS5 and BBS8, or knockout of BBS4, impairs ciliary trafficking of PC1 in kidney epithelial cells. Depletion of these BBS proteins affects neither the ciliary length nor the plasma membrane targeting of PC1. Expression of a pathogenic BBS3/Arl6 mutant (T31R) that locks Arl6 in the GDP form leads to stunted cilia and inhibition of PC1 on primary cilia. We propose that the 11-span membrane protein PC1 is a BBSome cargo and that the components of the BBSome may possess subunit-specific functions. Moreover, physical interactions between the BBS and ADPKD proteins may underline the overlapping renal phenotypes in these two diseases. PMID:24939912

Su, Xuefeng; Driscoll, Kaitlin; Yao, Gang; Raed, Anas; Wu, Maoqing; Beales, Philip L; Zhou, Jing

2014-10-15

36

Loss of Bardet–Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting  

PubMed Central

Bardet–Biedl syndrome (BBS) is a pleiotropic, heterogeneous human disease whose etiology lies primarily in dysfunctional basal bodies and/or cilia. Both BBS patients and several BBS mouse models exhibit impaired olfactory function. To explore the nature of olfactory defects in BBS, a genetic ablation of the mouse Bbs8 gene that incorporates a fluorescent reporter protein was created. The endogenous BBS8 protein and reporter are particularly abundant in olfactory sensory neurons (OSNs), and specific BBS8 antibodies reveal staining in the dendritic knob in a shell-like structure that surrounds the basal bodies. Bbs8-null mice have reduced olfactory responses to a number of odorants, and immunohistochemical analyses reveal a near-complete loss of cilia from OSNs and mislocalization of proteins normally enriched in cilia. To visualize altered protein localization in OSNs, we generated a SLP3eGFP knock-in mouse and imaged the apical epithelium, including dendritic knobs and proximal cilia, in ex vivo tissue preparations. Additionally, protein reagents that reflect the characteristic neuronal activity of each OSN revealed altered activity in Bbs8-null cells. In addition to previously known defects at the ciliary border, we also observed aberrant targeting of OSN axons to the olfactory bulb; axons expressing the same receptor display reduced fasciculation and project to multiple targets in the olfactory bulb. We suggest that loss of BBS8 leads to a dramatic and variable reduction in cilia, the essential signaling platform for olfaction, which alters the uniformity of responses in populations of OSNs expressing the same receptor, thereby contributing to the observed axon-targeting defects. PMID:21646512

Tadenev, Abigail L. D.; Kulaga, Heather M.; May-Simera, Helen L.; Kelley, Matthew W.; Katsanis, Nicholas; Reed, Randall R.

2011-01-01

37

Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting.  

PubMed

Bardet-Biedl syndrome (BBS) is a pleiotropic, heterogeneous human disease whose etiology lies primarily in dysfunctional basal bodies and/or cilia. Both BBS patients and several BBS mouse models exhibit impaired olfactory function. To explore the nature of olfactory defects in BBS, a genetic ablation of the mouse Bbs8 gene that incorporates a fluorescent reporter protein was created. The endogenous BBS8 protein and reporter are particularly abundant in olfactory sensory neurons (OSNs), and specific BBS8 antibodies reveal staining in the dendritic knob in a shell-like structure that surrounds the basal bodies. Bbs8-null mice have reduced olfactory responses to a number of odorants, and immunohistochemical analyses reveal a near-complete loss of cilia from OSNs and mislocalization of proteins normally enriched in cilia. To visualize altered protein localization in OSNs, we generated a SLP3(eGFP) knock-in mouse and imaged the apical epithelium, including dendritic knobs and proximal cilia, in ex vivo tissue preparations. Additionally, protein reagents that reflect the characteristic neuronal activity of each OSN revealed altered activity in Bbs8-null cells. In addition to previously known defects at the ciliary border, we also observed aberrant targeting of OSN axons to the olfactory bulb; axons expressing the same receptor display reduced fasciculation and project to multiple targets in the olfactory bulb. We suggest that loss of BBS8 leads to a dramatic and variable reduction in cilia, the essential signaling platform for olfaction, which alters the uniformity of responses in populations of OSNs expressing the same receptor, thereby contributing to the observed axon-targeting defects. PMID:21646512

Tadenev, Abigail L D; Kulaga, Heather M; May-Simera, Helen L; Kelley, Matthew W; Katsanis, Nicholas; Reed, Randall R

2011-06-21

38

Bardet-Biedl Syndrome  

MedlinePLUS

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39

Bardet-Biedl Syndrome-associated Small GTPase ARL6 (BBS3) Functions at or near the Ciliary Gate and Modulates Wnt Signaling*  

PubMed Central

The expansive family of metazoan ADP-ribosylation factor and ADP-ribosylation factor-like small GTPases is known to play essential roles in modulating membrane trafficking and cytoskeletal functions. Here, we present the crystal structure of ARL6, mutations in which cause Bardet-Biedl syndrome (BBS3), and reveal its unique ring-like localization at the distal end of basal bodies, in proximity to the so-called ciliary gate where vesicles carrying ciliary cargo fuse with the membrane. Overproduction of GDP- or GTP-locked variants of ARL6/BBS3 in vivo influences primary cilium length and abundance. ARL6/BBS3 also modulates Wnt signaling, a signal transduction pathway whose association with cilia in vertebrates is just emerging. Importantly, this signaling function is lost in ARL6 variants containing BBS-associated point mutations. By determining the structure of GTP-bound ARL6/BBS3, coupled with functional assays, we provide a mechanistic explanation for such pathogenic alterations, namely altered nucleotide binding. Our findings therefore establish a previously unknown role for ARL6/BBS3 in mammalian ciliary (dis)assembly and Wnt signaling and provide the first structural information for a BBS protein. PMID:20207729

Wiens, Cheryl J.; Tong, Yufeng; Esmail, Muneer A.; Oh, Edwin; Gerdes, Jantje M.; Wang, Jihong; Tempel, Wolfram; Rattner, Jerome B.; Katsanis, Nicholas; Park, Hee-Won; Leroux, Michel R.

2010-01-01

40

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

SciTech Connect

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.

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

1994-09-01

41

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking  

PubMed Central

Summary Bardet-Biedl Syndrome (BBS) is a pleiotropic and genetically heterozygous disorder caused independently by numerous genes (BBS1–BBS17). Seven highly conserved BBS proteins (BBS1, 2, 4, 5, 7, 8 and 9) form a complex known as the BBSome, which functions in ciliary membrane biogenesis. BBS7 is both a unique subunit of the BBSome and displays direct physical interaction with a second BBS complex, the BBS chaperonin complex. To examine the in vivo function of BBS7, we generated Bbs7 knockout mice. Bbs7?/? mice show similar phenotypes to other BBS gene mutant mice including retinal degeneration, obesity, ventriculomegaly and male infertility characterized by abnormal spermatozoa flagellar axonemes. Using tissues from Bbs7?/? mice, we show that BBS7 is required for BBSome formation, and that BBS7 and BBS2 depend on each other for protein stability. Although the BBSome serves as a coat complex for ciliary membrane proteins, BBS7 is not required for the localization of ciliary membrane proteins polycystin-1, polycystin-2, or bitter taste receptors, but absence of BBS7 leads to abnormal accumulation of the dopamine D1 receptor to the ciliary membrane, indicating that BBS7 is involved in specific membrane protein localization to cilia. PMID:23572516

Zhang, Qihong; Nishimura, Darryl; Vogel, Tim; Shao, Jianqiang; Swiderski, Ruth; Yin, Terry; Searby, Charles; Carter, Calvin S.; Kim, GunHee; Bugge, Kevin; Stone, Edwin M.; Sheffield, Val C.

2013-01-01

42

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.  

PubMed

Bardet-Biedl Syndrome (BBS) is a pleiotropic and genetically heterozygous disorder caused independently by numerous genes (BBS1-BBS17). Seven highly conserved BBS proteins (BBS1, 2, 4, 5, 7, 8 and 9) form a complex known as the BBSome, which functions in ciliary membrane biogenesis. BBS7 is both a unique subunit of the BBSome and displays direct physical interaction with a second BBS complex, the BBS chaperonin complex. To examine the in vivo function of BBS7, we generated Bbs7 knockout mice. Bbs7(-/-) mice show similar phenotypes to other BBS gene mutant mice including retinal degeneration, obesity, ventriculomegaly and male infertility characterized by abnormal spermatozoa flagellar axonemes. Using tissues from Bbs7(-/-) mice, we show that BBS7 is required for BBSome formation, and that BBS7 and BBS2 depend on each other for protein stability. Although the BBSome serves as a coat complex for ciliary membrane proteins, BBS7 is not required for the localization of ciliary membrane proteins polycystin-1, polycystin-2, or bitter taste receptors, but absence of BBS7 leads to abnormal accumulation of the dopamine D1 receptor to the ciliary membrane, indicating that BBS7 is involved in specific membrane protein localization to cilia. PMID:23572516

Zhang, Qihong; Nishimura, Darryl; Vogel, Tim; Shao, Jianqiang; Swiderski, Ruth; Yin, Terry; Searby, Charles; Carter, Calvin S; Kim, Gunhee; Bugge, Kevin; Stone, Edwin M; Sheffield, Val C

2013-06-01

43

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly  

PubMed Central

The ciliopathies are an expanding group of disorders caused by mutations in genes implicated in the biogenesis and function of primary cilia. Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by progressive retinal degeneration, obesity, polydactyly, cognitive impairment, kidney anomalies and hypogonadism. Mutations in SDCCAG8(NPHP10) were described recently in patients with nephronophthisis and retinal degeneration (Senior-Loken syndrome; SLS). Given the phenotypic and genetic overlap between known ciliopathy genes, we hypothesized that mutations in SDCCAG8 might also contribute alleles to more severe, multisystemic ciliopathies. We performed genetic and phenotypic analyses of 2 independent BBS cohorts. Subsequent to mutation screening, we made a detailed phenotypic analysis of 5 families mutated for SDCCAG8 (3 homozygous and 2 compound heterozygous mutations) and conducted statistical analyses across both cohorts to examine possible phenotype-genotype correlations with mutations at this locus. All patients with mutations in SDCCAG8 fulfilled the diagnostic criteria for BBS (retinal degeneration, obesity, cognitive defects, renal failure, hypogonadism). Interestingly, none of the patients with primary SDCCAG8 mutations had polydactyly, a frequent but not obligatory BBS feature. In contrast, the same patients displayed early-onset renal failure, obesity, as well as recurrent pulmonary and ENT infections. Comparison of the phenotypes of these families with our entire BBS cohort indicated that renal impairment and absent polydactyly correlated significantly with causal SDCCAG8 mutations. Thus, SDCCAG8 mutations are sufficient to cause BBS in 1–2% of our combined cohorts, and define this gene as the sixteenth BBS locus (BBS16). The absence of polydactyly and the concomitant, apparently fully penetrant association with early kidney failure represents the first significant genotype-phenotype correlation in BBS that potentially represents an indicator for phenotype-driven priority screening and informs specific patient management. PMID:22190896

Schaefer, E.; Zaloszyc, A.; Lauer, J.; Durand, M.; Stutzmann, F.; Perdomo-Trujillo, Y.; Redin, C.; Bennouna Greene, V.; Toutain, A.; Perrin, L.; Gérard, M.; Caillard, S.; Bei, X.; Lewis, R.A.; Christmann, D.; Letsch, J.; Kribs, M.; Mutter, C.; Muller, J.; Stoetzel, C.; Fischbach, M.; Marion, V.; Katsanis, N.; Dollfus, H.

2011-01-01

44

TUDCA Slows Retinal Degeneration in Two Different Mouse Models of Retinitis Pigmentosa and Prevents Obesity in Bardet-Biedl Syndrome Type 1 Mice  

PubMed Central

Purpose. To evaluate and compare the protective effect of tauroursodeoxycholic acid (TUDCA) on photoreceptor degeneration in different models of retinal degeneration (RD) in mice. Methods. BbsM390R/M390R mice were injected subcutaneously twice a week, from P40 to P120, and rd10 mice were injected every 3 days from P6 to P38 with TUDCA or vehicle (0.15 M NaHCO3). Rd1 and rd16 mice were injected daily from P6 to P30 with TUDCA or vehicle. Retinal structure and function were determined at multiple time points by electroretinography (ERG), optical coherence tomography (OCT), and histology. Results. The amplitude of ERG b-waves was significantly higher in TUDCA-treated Bbs1 and rd10 animals than in controls. Retinal thickness on OCT was slightly greater in treated Bbs1 animals than in the controls. Histologically, outer segments were preserved, and the outer nuclear layer was significantly thicker in the treated Bbs1 and rd10 mice than in the controls. Bbs1M390R/M390R mice developed less obesity than the control Bbs1M390R/M390R while receiving TUDCA. The Rd1 and rd16 mice showed no improvement with TUDCA treatment, and the rd1 mice did not have normal weight gain during treatment. Conclusions. TUDCA treatment preserved ERG b-waves and the outer nuclear layer in Bbs1M390R/M390R mice, and prevented obesity assessed at P120. TUDCA treatment preserved ERG b-waves and the outer nuclear layer in the rd10 mice to P30. TUDCA is a prime candidate for treatment of humans with retinal degeneration, especially those with Bardet-Biedl syndrome, whom it may help not only with the vision loss, but with the debilitating obesity as well. PMID:22110077

Drack, Arlene V.; Dumitrescu, Alina V.; Bhattarai, Sajag; Gratie, Daniel; Stone, Edwin M.; Mullins, Robert

2012-01-01

45

The Bardet–Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex  

PubMed Central

CCDC28B encodes a coiled coil domain-containing protein involved in ciliogenesis that was originally identified as a second site modifier of the ciliopathy Bardet–Biedl syndrome. We have previously shown that the depletion of CCDC28B leads to shortened cilia; however, the mechanism underlying how this protein controls ciliary length is unknown. Here, we show that CCDC28B interacts with SIN1, a component of the mTOR complex 2 (mTORC2), and that this interaction is important both in the context of mTOR signaling and in a hitherto unknown, mTORC-independent role of SIN1 in cilia biology. We show that CCDC28B is a positive regulator of mTORC2, participating in its assembly/stability and modulating its activity, while not affecting mTORC1 function. Further, we show that Ccdc28b regulates cilia length in vivo, at least in part, through its interaction with Sin1. Importantly, depletion of Rictor, another core component of mTORC2, does not result in shortened cilia. Taken together, our findings implicate CCDC28B in the regulation of mTORC2, and uncover a novel function of SIN1 regulating cilia length that is likely independent of mTOR signaling. PMID:23727834

Cardenas-Rodriguez, Magdalena; Irigoín, Florencia; Osborn, Daniel P.S.; Gascue, Cecilia; Katsanis, Nicholas; Beales, Philip L.; Badano, Jose L.

2013-01-01

46

Bardet–Biedl and Jeune Syndromes  

Microsoft Academic Search

\\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

Aoife M. Waters; Philip L. Beales

47

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 ...

48

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family  

PubMed Central

Bardet–Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity of this condition is reflected in the number of underlying gene defects and the epistatic interactions between the proteins encoded. BBS is generally inherited in an autosomal recessive trait. However, in some families, mutations across different loci interact to modulate the expressivity of the phenotype. In order to investigate the magnitude of epistasis in one BBS family with remarkable intrafamilial phenotypic variability, we designed an exome sequencing–based approach using SOLID 5500xl platform. This strategy allowed the reliable detection of the primary causal mutations in our family consisting of two novel compound heterozygous mutations in McKusick–Kaufman syndrome (MKKS) gene (p.D90G and p.V396F). Additionally, exome sequencing enabled the detection of one novel heterozygous NPHP4 variant which is predicted to activate a cryptic acceptor splice site and is only present in the most severely affected patient. Here, we provide an exome sequencing analysis of a BBS family and show the potential utility of this tool, in combination with network analysis, to detect disease-causing mutations and second-site modifiers. Our data demonstrate how next-generation sequencing (NGS) can facilitate the dissection of epistatic phenomena, and shed light on the genetic basis of phenotypic variability. PMID:24689075

González-del Pozo, María; Méndez-Vidal, Cristina; Santoyo-Lopez, Javier; Vela-Boza, Alicia; Bravo-Gil, Nereida; Rueda, Antonio; García-Alonso, Luz; Vázquez-Marouschek, Carmen; Dopazo, Joaquín; Borrego, Salud; Antińolo, Guillermo

2014-01-01

49

A Case of Hydrometrocolpos and Polydactyly  

PubMed Central

Neonatal hydrometrocolpos (HMC) is a rare Mullerian duct anomaly with an incidence of 0.006%. It occurs due to blockage of the vagina with accumulation of mucus secretions proximal to the obstacle. These secretions are secondary to intrauterine and postnatal stimulation of uterine and cervical glands by maternal estrogens. A triad of congenital HMC, polydactyly, and cardiac anomalies are the cardinal features of McKusick–Kaufman syndrome, which is also known as hydrometrocolpos-polydactyly syndrome. Bardet–Biedl syndrome is a well-known combination of hypogonadism, obesity, postaxial polydactyly, renal dysplasia, retinal degeneration, and mental impairment. In this case report, we describe a neonate with HMC, polydactyly, and hydronephrosis. PMID:25635170

Sharma, Deepak; Murki, Srinivas; Pratap, Oleti Tejo; Irfan, GM; Kolar, Geeta

2015-01-01

50

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

E-print Network

and interspecific hybridization characteristics." Rise, M.L., von Schalburg, K., Brown, G.D., Mawer, M.A., Devlin, R.H., Kuipers, N., Busby, M., Beetz-Sargent, M., Alberto, R., Gibbs, A.R., Hunt, P., Shukin, R., Zeznik, J:408-411. (205 citations as of January 3, 2012). "Fish and Chips: Various methodologies demonstrate utility

51

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

PubMed Central

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

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

52

Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.  

PubMed

Hirschsprung's disease (HSCR) is a fairly frequent cause of intestinal obstruction in children. It is characterized as a sex-linked heterogonous disorder with variable severity and incomplete penetrance giving rise to a variable pattern of inheritance. Although Hirschsprung's disease occurs as an isolated phenotype in at least 70% of cases, it is not infrequently associated with a number of congenital abnormalities and associated syndromes, demonstrating a spectrum of congenital anomalies. Certain of these syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction, in its pathogenesis. These associations with HSCR include Down's syndrome and other chromosomal anomalies, Waardenburg syndrome and other Dominant sensorineural deafness, the Congenital Central Hypoventilation and Mowat-Wilson and other brain-related syndromes, as well as the MEN2 and other tumour associations. A number of other autosomal recessive syndromes include the Shah-Waardenburg, the Bardet-Biedl and Cartilage-hair hypoplasia, Goldberg-Shprintzen syndromes and other syndromes related to cholesterol and fat metabolism among others. The genetics of Hirschsprung's disease are highly complex with the majority of known genetic sites relating to the main susceptibility pathways (RET an EDNRB). Non-syndromic non-familial, short-segment HSCR appears to represent a non-Mendelian condition with variable expression and sex-dependent penetrance. Syndromic and familial forms, on the other hand, have complex patterns of inheritance and being reported as autosomal dominant, recessive and polygenic patterns of inheritance. The phenotypic variability and incomplete penetrance observed in Hirschsprung's disease could also be explained by the involvement of modifier genes, especially in its syndromic forms. In this review, we look at the chromosomal and Mendelian associations and their underlying signalling pathways, to obtain a better understanding of the pathogenetic mechanisms involved in developing aganglionosis of the distal bowel. PMID:23001136

Moore, S W

2012-11-01

53

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.  

PubMed

Rare-variant association studies in common, complex diseases are customarily conducted under an additive risk model in both single-variant and burden testing. Here, we describe a method to improve detection of rare recessive variants in complex diseases termed RAFT (recessive-allele-frequency-based test). We found that RAFT outperforms existing approaches when the variant influences disease risk in a recessive manner on simulated data. We then applied our method to 1,791 Finnish individuals with type 2 diabetes (T2D) and 2,657 matched control subjects. In BBS10, we discovered a rare variant (c.1189A>G [p.Ile397Val]; rs202042386) that confers risk of T2D in a recessive state (p = 1.38 × 10(-6)) and would be missed by conventional methods. Testing of this variant in an established in vivo zebrafish model confirmed the variant to be pathogenic. Taken together, these data suggest that RAFT can effectively reveal rare recessive contributions to complex diseases overlooked by conventional association tests. PMID:25439097

Lim, Elaine T; Liu, Yangfan P; Chan, Yingleong; Tiinamaija, Tuomi; Käräjämäki, AnnMari; Madsen, Erik; Altshuler, David M; Raychaudhuri, Soumya; Groop, Leif; Flannick, Jason; Hirschhorn, Joel N; Katsanis, Nicholas; Daly, Mark J

2014-11-01

54

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.  

PubMed

Hirschsprung disease (HSCR) stands as a model for genetic dissection of complex diseases. In this model, a major gene, RET, is involved in most if not all cases of isolated (i.e., nonsyndromic) HSCR, in conjunction with other autosomal susceptibility loci under a multiplicative model. HSCR susceptibility alleles can harbor either heterozygous coding sequence mutations or, more frequently, a polymorphism within intron 1, leading to a hypomorphic RET allele. On the other hand, about 30% of HSCR are syndromic. Hitherto, the disease causing gene has been identified for eight Mendelian syndromes with HSCR: congenital central hypoventilation (CCHS), Mowat-Wilson (MWS), Bardet-Biedl (BBS), Shah-Waardenburg (WS4), cartilage-hair-hypoplasia (CHH), Smith-Lemli-Opitz (SLO), Goldberg-Sprintzsen (GSS), and hydrocephalus due to congenital stenosis of the aqueduct of sylvius (HSAS). According to the HSCR syndrome, the penetrance of HSCR trait varies from 5 to 70%. Trisomy 21 (T21) also predisposes to HSCR. We were able to collect a series of 393 patients affected by CCHS (n = 173), WS4 (n = 24), BBS (n = 51), MWS (n = 71), T21 (n = 46), and mental retardation (MR) with HSCR (n = 28). For each syndrome, we studied the RET locus in two subgroups of patients; i.e., with or without HSCR. We genotyped the RET locus in 393 patients among whom 195 had HSCR, and compared the distribution of alleles and genotypes within the two groups for each syndrome. RET acts as a modifier gene for the HSCR phenotype in patients with CCHS, BBS, and Down syndrome, but not in patients with MWS and WS4. The frequent, low penetrant, predisposing allele of the RET gene can be regarded as a risk factor for the HSCR phenotype in CCHS, BBS, and Down syndrome, while its role is not significant in MWS and WS4. These data highlight the pivotal role of the RET gene in both isolated and syndromic HSCR. PMID:17397038

de Pontual, L; Pelet, A; Clement-Ziza, M; Trochet, D; Antonarakis, S E; Attie-Bitach, T; Beales, P L; Blouin, J-L; Dastot-Le Moal, F; Dollfus, H; Goossens, M; Katsanis, N; Touraine, R; Feingold, J; Munnich, A; Lyonnet, S; Amiel, J

2007-08-01

55

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

ClinicalTrials.gov

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

2015-01-08

56

Alström Syndrome: Genetics and Clinical Overview  

PubMed Central

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

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

2011-01-01

57

Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.  

PubMed

The human Usher syndrome (USH) is the most frequent cause of combined hereditary deaf-blindness. USH is genetically and clinically heterogeneous: 15 chromosomal loci assigned to 3 clinical types, USH1-3. All USH1 and 2 proteins are organized into protein networks by the scaffold proteins harmonin (USH1C), whirlin (USH2D) and SANS (USH1G). This has contributed essentially to our current understanding of the USH protein function in the eye and the ear and explains why defects in proteins of different families cause very similar phenotypes. Ongoing in depth analyses of USH protein networks in the eye indicated cytoskeletal functions as well as roles in molecular transport processes and ciliary cargo delivery in photoreceptor cells. The analysis of USH protein networks revealed molecular links of USH to other ciliopathies, including non-syndromic inner ear defects and isolated retinal dystrophies but also to kidney diseases and syndromes like the Bardet-Biedl syndrome. These findings provide emerging evidence that USH is a ciliopathy molecularly related to other ciliopathies, which opens an avenue for common therapy strategies to treat these diseases. PMID:24664740

Sorusch, Nasrin; Wunderlich, Kirsten; Bauss, Katharina; Nagel-Wolfrum, Kerstin; Wolfrum, Uwe

2014-01-01

58

Clinical and Molecular Investigations Into Ciliopathies  

ClinicalTrials.gov

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

2015-01-06

59

Genetics Home Reference: Retinitis pigmentosa  

MedlinePLUS

... as syndromic. The most common form of syndromic retinitis pigmentosa is Usher syndrome, which is characterized by the combination of vision ... ataxia, and retinitis pigmentosa (NARP). Read more about Usher syndrome ; Refsum ... pigmentosa ; and Bardet-Biedl syndrome . How common is retinitis ...

60

[Lynch syndrome (case report)].  

PubMed

The authors have analyzed the ethology, pathogenesis, treatment of Lynch Syndrome and described a case history of a 65-year-old woman with right breast cancer who was admitted into a hospital with intestines impassability and operation was performed. During the operation tumour, which caused the acute intestine impassability was identified. Apart from this, after the inner organ examination metastasis on stomach and tumour in upper and middle rectum were found. Histology and colonoscopy revealed the rectum adenocarcinoma (morphologic code 8140/3) with mild differentiation. Examination revealed adenocarcinoma with high and middle area differentiation (morphologic code 8480/3). Post-operational period was satisfactory. On the 10-th day the stitches were removed, chemical therapy was carried out according to the scheme set. Patient was examined after a year and two months. General health was satisfactory; she conducts an active life. PMID:19430032

Grigoliia, N G; Gachechiladze, M G; Chichua, L G; Chkheidze, G R; Bolotashvili, Sh N

2009-04-01

61

Marfan Syndrome: A Case Report  

PubMed Central

Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body. A case report of Marfan syndrome has been reported with oral features. The dental problems of the child were treated under general anesthesia and a one-month review showed intact stainless steel crowns' restorations and no signs of secondary caries. PMID:23304566

Ganesh, Rajendran; Vijayakumar, Rajendran; Selvakumar, Haridoss

2012-01-01

62

Gradenigo syndrome: A case report  

Microsoft Academic Search

The case is presented of a 13-year-old boy with recurrent episodes of otitis media who developed Gradenigo syndrome. Mastoid and petrous bone involvement were demonstrated by CT. Symptoms resolved with antibiotic treatment.

S. Tutuncuoglu; N. Uran; I. Kavas; T. Ozgur

1993-01-01

63

Frey's syndrome: case report.  

PubMed

Frey's syndrome is characterized by facial sweating and flushing in the parotid area when saliva is stimulated. It usually results from damage to the auriculotemporal nerve during parotidectomy. PMID:23252196

Haker, Jacqueline M; Mandel, Louis

2012-01-01

64

Delleman (Oculocerebrocutaneous) Syndrome: Case report  

PubMed Central

Delleman syndrome is an unusual entity, characterized by ocular cysts or microphthalmia, focal dermal anomalies and cerebral malformations. In the following article, we carry out a review of the disease and we present the case of a patient with microphthalmos and palpebral coloboma. As we could not put orbital expanders at an early stage, we performed reconstructive surgery. PMID:25005212

Ortiz-Basso, Tomás; Vigo, Rodolfo; Iacouzzi, Sebastián; Prémoli, Jorge

2014-01-01

65

A case of Achenbach's syndrome.  

PubMed

Achenbach's syndrome is a rarely reported clinical entity consisting of spontaneous or mechanically induced haematomas on the volar aspects of fingers which are associated with burning pain and swelling of the digits. We describe such a case in a 46-year-old nursing sister. PMID:8440056

Layton, A M; Cotterill, J A

1993-01-01

66

Regulating intraflagellar transport.  

PubMed

Kinesin-2 motors mediate anterograde intraflagellar transport (IFT) of IFT particles from the ciliary base to its tip, where particles are remodelled before retrograde transport by dynein 2 motors. Bardet-Biedl syndrome (BBS) and IFT-A proteins are now implicated in regulation of IFT assembly at the ciliary base and tip. PMID:22945257

Pedersen, Lotte B; Christensen, Sřren T

2012-09-01

67

A Case of Rapunzel Syndrome  

PubMed Central

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

Nam, Chang Woo

2013-01-01

68

A case imitating Panayiotopoulos syndrome.  

PubMed

Panayiotopoulos syndrome is one of the most common childhood-specific epileptic disorders. It is characterized by autonomic symptoms; the most common being emesis. However, the presence of emetic symptoms may cause misdiagnosis, for example with some organic disorders which have similar autonomic features. On the other hand, since this syndrome has been recently well documented, the tendency for early recognition may lead to overdiagnosis. Here, we present a case which could be mistaken for Panayiotopoulos syndrome based on anamnesis, however, with the aid of ictal video-EEG monitoring, the patient was shown to present with a non-epileptic psychogenic seizure. This report is an example of careful evaluation in order to avoid over- or underdiagnosis of this benign disorder. [Published with video sequences]. PMID:21865129

Bolukbasi, Feray; Hamamcioglu, Irem; Demirbilek, Veysi; Dogangun, Burak; Dervent, Aysin

2011-09-01

69

Goldenhar syndrome - a case report.  

PubMed

Goldenhar syndrome is a developmental abnormality of 1st & 2nd branchial arch involving the craniofacial microsomia with ocular & vertebral abnormality. Though most of the cases are sporadic, some familial association is also found in autosomal dominant or recessive manner. Teratogenic effect of some toxic substances may lead to the condition. Ocular abnormalities are epibulbar dermoid, lipodermoid & coloboma. Otic defects are preauricular tags, microtia, anotia & conductive hearing loss. Cardio-pulmonary & genitourinary abnormalities are common associations. Here we have described the case of a 10 years old girl had ocular, auricular & vertebral changes consistent with Goldenhar syndrome, she was managed with multidisciplinary approach and she was symptomatically improved but corrective surgery was planned as schedule of respective department. PMID:25178617

Mutanabbi, M; Rahman, M A; Mamun, A A; Helal, M A; Billah, M B; Islam, K A

2014-07-01

70

Kousseff syndrome: A fifth case?  

SciTech Connect

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.

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

71

Case report on SHORT syndrome.  

PubMed

The acronym SHORT was first used by Gorlin et al. (1975) and Sensenbrenner et al. (1975) to define a recognizable pattern of features, consisting of Short Stature, Hyperextensibility of joints and/or inguinal Hernia, Ocular depression, Rieger anomaly, and Teething delay. Other features characteristic of the syndrome included intrauterine growth retardation (IUGR), slow weight gain, frequent illness, triangular face, anteverted ears, telecanthus, deeply set eyes, wide nasal bridge, hypoplastic alae nasi, chin dimple, micrognathia, clinodactyly, partial lipodystrophy, hearing loss, functional heart murmur, delayed bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes. To our knowledge 19 cases of SHORT syndrome have been reported (Gorlin et al., 1975; Sensenbrenner et al., 1975; Aarskog et al., 1983; Toriello et al., 1985; Lipson et al., 1989; Schwingshandl et al., 1993; Verge et al., 1994; Bankier et al., 1985; Brodsky et al., 1996; Sorge et al., 1996; Haan and Morris, 1998). We report the twentieth patient diagnosed with SHORT syndrome who presented with growth retardation, sensorineural hearing loss, and minor dysmorphic features, consistent with the phenotype described for this syndrome. PMID:10457859

Joo, S H; Raygada, M; Gibney, S; Farzaneh, I; Rennert, O M

1999-07-01

72

Superior Orbital Fissure Syndrome: A Case Report  

PubMed Central

Superior orbital fissure syndrome is an infrequently encountered entity with a unique presentation and significant morbidity. This article reviews the background of the syndrome, treatments in the literature, and discusses a recent case with treatment strategy. PMID:23730429

Evans, Heath H.; Wurth, Bradley A.; Penna, Kevin J.

2012-01-01

73

Abnormal development of NG2+PDGFR?+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model  

PubMed Central

Hydrocephalus is a common neurological disorder leading to expansion of the cerebral ventricles and is associated with significant morbidity and mortality. Most neonatal cases are of unknown etiology and are likely to display complex inheritance involving multiple genes and environmental factors. Identifying molecular mechanisms for neonatal hydrocephalus and developing non-invasive treatment modalities are high priorities. Here we employ a hydrocephalic mouse model of the human ciliopathy Bardet-Biedl Syndrome (BBS) and identify a role for neural progenitors in the pathogenesis of neonatal hydrocephalus. We found that hydrocephalus in this mouse model is caused by aberrant PDGFR? signaling, resulting in increased apoptosis and impaired proliferation of NG2+PDGFR?+ neural progenitors. Targeting this pathway with lithium treatment rescued NG2+PDGFR?+ progenitor cell proliferation in BBS mutant mice, reducing ventricular volume. Our findings demonstrate that neural progenitors are critical in the pathogenesis of neonatal hydrocephalus and we identify novel therapeutic targets for this common neurological disorder. PMID:23160237

Carter, Calvin S.; Vogel, Timothy W.; Zhang, Qihong; Seo, Seongjin; Swiderski, Ruth E.; Moninger, Thomas O.; Cassell, Martin D.; Thedens, Daniel R.; Keppler-Noreuil, Kim M.; Nopoulos, Peggy; Nishimura, Darryl Y.; Searby, Charles C.; Bugge, Kevin; Sheffield, Val C.

2012-01-01

74

Two interesting cases of EEC syndrome  

PubMed Central

Aim To report two cases of EEC syndrome with oral involvement to highlight the fact that the dental surgeon may be among the first to recognise the condition. Introduction The EEC syndrome, a rare congenital syndrome is characterised by ectodermal dysplasia, distal limb anomaly, cleft lip and palate and lachrymal duct anomalies although the term oligosymptomatic EEC syndrome has been suggested for cases in which ectrodactyly may be absent and that such cases should not be deprived of the EEC syndrome diagnosis. It is usually inherited as an autosomal dominant trait with variable expressivity and penetrance and all these features rarely coexist in a single individual. Conclusion Both our cases had all three characteristic features of the EEC syndrome. Other syndromes with overlapping features such as the Rapp–Hodgkin syndrome and the AEC syndrome should be considered in the differential diagnosis of incomplete forms of EEC syndrome. Clinical significance It is important to follow an interdisciplinary approach to attain the greatest degree of success possible in the treatment of such cases.

Iqbal Ali, Mariyam; Aravinda, K.; Nigam, Nitin Kumar; Ali, Iqbal

2013-01-01

75

Gorlin-goltz syndrome: a rare case.  

PubMed

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi. PMID:25814758

Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, P K

2015-01-01

76

Gorlin-Goltz Syndrome: A Rare Case  

PubMed Central

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi. PMID:25814758

Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, PK

2015-01-01

77

Hermansky-Pudlak Syndrome; a Case Report  

PubMed Central

Purpose To report a case of Hermansky-Pudlak syndrome. Case Report A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. The patient underwent strabismus surgery taking necessary precautions such as reserving platelet concentrates in case of a hemorrhagic event. Conclusion Patients with albinism should be evaluated for Hermansky-Pudlak syndrome especially before surgery to prevent life-threatening complications. PMID:22737372

Bagheri, Abbas; Abdollahi, Asieh

2010-01-01

78

CLINICAL SECTION Kabuki syndrome: a case report  

E-print Network

This article reports the case of an 8-year-old female with Kabuki syndrome and the oral/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the

Z. H. S. Lung; A. Rennie

2005-01-01

79

The Crouzan Syndrome-A Case Report  

PubMed Central

The Crouzon syndrome is a genetic disorder which is known as the brachial arch syndrome. It is an autosomal dominant disorder which is one of a rare group of syndromes which is characterized by cranio synostosis or a premature closing of the cranial sutures. The major features are brachiocephaly, occular proptosis, an under developed maxilla, mid face hypoplasia, a rare cleft lip or palate, hypodontia (some teeth missing) and crowding of teeth. Due to the maxillary hypoplasia, the Crouzon syndrome patients generally have a considerable permanent underbite and they subsequently cannot chew by using their incisors. We have presented in this article, a case of the Crouzon syndrome which was seen in a girl who was aged six years, with similar symptoms and the multidisciplinary approach which has to be followed in managing the case. PMID:23814755

Prasad, Manu; Shetty, Ashwini S.; Shantaram, Manjula

2013-01-01

80

Piriformis syndrome--a case report.  

PubMed

Piriformis syndrome, a term applied to an abnormal condition of the piriformis muscle, is characterized by symptoms and signs due to sciatic nerve entrapment at the greater sciatic notch. Recently we reviewed a case of unusual low back pain, radiating to the left lower extremity with tenderness particular in the left buttock. The patient was successfully treated by sectioning the piriformis tendon. We described the clinical features of a case of piriformis syndrome and reviewed the foreign literature. PMID:1877257

Park, H W; Jahng, J S; Lee, W H

1991-03-01

81

[Lyell's syndrome: study of a clinical case].  

PubMed

The Authors report a case of Lyell's syndrome. Previous administration of sulfadossine was identified as the precipitating cause of the syndrome. The clinical history and the treatment of the case are described. Two aspects of the latter were considered to be particularly important: a careful control of the hydroelectrolytic balance and positive action to favour the rapid re-epithelialization of the cutaneous area affected. PMID:6196929

Ghinelli, F; Perinotto, P; Allegra, F

1983-01-01

82

Glucocorticoid hypersensitivity syndrome--a case report.  

PubMed

Glucocorticoid hypersensitivity syndrome has been reported to date only in several patients. This article describes a unique case of this syndrome in a 24-year old female admitted to hospital because of arterial hypertension and obesity. Although her clinical picture suggested Cushing's syndrome, she had low adrenocorticotropic hormone (ACTH) and cortisol levels with a poor response to corticotrophin-releasing hormone and Synacthen. In turn, an overnight dexamethasone suppression test with 0.25 mg of dexamethasone led to a dramatic decrease in morning cortisol. A diagnosis of glucocorticoid hypersensitivity was made and the patient started treatment with ketoconazole and cabergoline, which resulted in some clinical improvement. This case illustrates the need for clinical awareness of glucocorticoid hypersensitivity in patients suspected of Cushing's syndrome. PMID:23757909

Krysiak, R; Okopien, B

2012-11-01

83

Goldenhar syndrome - review with case series.  

PubMed

Goldenhar's syndrome is a rare condition which was described initially in the early 1950s. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformations of the ears. In 1963, Gorlin suggested the name, oculo-auriculo-vertebral (OAV) dysplasia for this condition and he also included vertebral anomalies as signs of this syndrome. The aetiology of this rare disease has not been fully understood, as it has shown itself to be variable genetically and to be caused due to unclear reasons. Here, we are reporting two cases of Goldenhar's syndrome, where almost all the classical signs of this rare condition were present. PMID:24959523

Ashokan, C Seethalakshmi; Sreenivasan, Arathi; Saraswathy, Gopal K

2014-04-01

84

Papillon–Lefevre syndrome: A case report  

PubMed Central

Papillon–Lefevre syndrome (PLS) is a rare autosomal recessive disorder of keratinization, characterized by palmoplantar hyperkeratosis, periodontal involvement and precocious loss of dentition. The purpose of this report was to describe the case of an 18-year-old girl who presented to the out patient department of Navodaya Dental College and Hospital, Raichur, Karnataka, India, with the chief complaint of multiple loss of teeth. Her gingiva appeared erythematous, edematous and bled readily on probing, and the teeth were mobile. Hyperkeratosis of palms and soles were found. These findings are consistent with Papillon–Lefčvre syndrome. The clinical presentation, differential diagnosis, complications and management of this syndrome are discussed. PMID:24151407

Pavankumar, Kalwa

2010-01-01

85

Sturge–Weber syndrome – A case report  

PubMed Central

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.

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

2015-01-01

86

[Malignant hyperthermia syndrome: case report].  

PubMed

Malignant hyperthermia syndrome is a family myopathy of pharmacogenetic nature, which appears as a skeletal muscle hypercatabolic syndrome linked to anesthesia. The incidence in pediatrics is 1 event per 10 000 surgeries. The clinical picture may have a rapid onset associated with succinylcholine, or a late onset related to inhalation agents. The clinical picture includes tachycardia, hyperthermia, hypercapnia, acidosis, muscle rigidity, hyperkalemia, renal failure and arrhythmia. Mortality without specific treatment is of 80% and drops to 7% with the use of dantrolene sodium. We report an 8-year-old patient admitted for phimosis surgery; having tachycardia, hypercapnia and muscle rigidity, he started treatment with dantrolene sodium in the operating room, which was maintained for 72 hours. He evolved the first 12 hours with low cardiac output and creatine phosphokinase maximum of 155 147 U/L. He remained with mechanical ventilation for 48 hours. Discharge was given on the sixth day without sequelae. PMID:25727836

Taffarel, Pedro; Koffman, Fernando; Zifferman, Andrea; Degiuseppe, Sebastian; Mansilla, Alejandro; Darduin, Marcelo; Acerenza, Marcelo

2015-04-01

87

Rapunzel Syndrome: A Rare Postpartum Case  

PubMed Central

The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman. PMID:24171124

Tegene, Teshome; Foda, Yahia; Hussain, Omar; Manikonda, Geeta

2013-01-01

88

Rumination Syndrome in Ethiopia: A Case Study  

PubMed Central

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

2014-01-01

89

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain  

PubMed Central

Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of distinct structural and functional subregions including the basal body, transition zone (TZ) and inversin (Inv) compartments, and defects in this organelle are associated with an expanding spectrum of inherited disorders including Bardet-Biedl syndrome (BBS), Meckel-Gruber Syndrome (MKS), Joubert Syndrome (JS) and Nephronophthisis (NPHP). Despite major advances in understanding ciliary trafficking pathways such as intraflagellar transport (IFT), how proteins are transported to subciliary membranes remains poorly understood. Using Caenorhabditis elegans and mammalian cells, we investigated the transport mechanisms underlying compartmentalization of JS-associated ARL13B/ARL-13, which we previously found is restricted at proximal ciliary membranes. We now show evolutionary conservation of ARL13B/ARL-13 localisation to an Inv-like subciliary membrane compartment, excluding the TZ, in many C. elegans ciliated neurons and in a subset of mammalian ciliary subtypes. Compartmentalisation of C. elegans ARL-13 requires a C-terminal RVVP motif and membrane anchoring to prevent distal cilium and nuclear targeting, respectively. Quantitative imaging in more than 20 mutants revealed differential contributions for IFT and ciliopathy modules in defining the ARL-13 compartment; IFT-A/B, IFT-dynein and BBS genes prevent ARL-13 accumulation at periciliary membranes, whereas MKS/NPHP modules additionally inhibit ARL-13 association with TZ membranes. Furthermore, in vivo FRAP analyses revealed distinct roles for IFT and MKS/NPHP genes in regulating a TZ barrier to ARL-13 diffusion, and intraciliary ARL-13 diffusion. Finally, C. elegans ARL-13 undergoes IFT-like motility and quantitative protein complex analysis of human ARL13B identified functional associations with IFT-B complexes, mapped to IFT46 and IFT74 interactions. Together, these findings reveal distinct requirements for sequence motifs, IFT and ciliopathy modules in defining an ARL-13 subciliary membrane compartment. We conclude that MKS/NPHP modules comprise a TZ barrier to ARL-13 diffusion, whereas IFT genes predominantly facilitate ARL-13 ciliary entry and/or retention via active transport mechanisms. PMID:24339792

Cevik, Sebiha; Clarke, Lara; van Reeuwijk, Jeroen; Hori, Yuji; Horn, Nicola; Hetterschijt, Lisette; Wdowicz, Anita; Mullins, Andrea; Kida, Katarzyna; Kaplan, Oktay I.; van Beersum, Sylvia E. C.; Man Wu, Ka; Letteboer, Stef J. F.; Mans, Dorus A.; Katada, Toshiaki; Kontani, Kenji; Ueffing, Marius; Roepman, Ronald; Kremer, Hannie; Blacque, Oliver E.

2013-01-01

90

Goldenhar syndrome: a report of 3 cases.  

PubMed

We report here 3 cases with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia), and facial microsomia. One of the patients also had vitiligo, which is yet to be reported as an association. PMID:23723509

Gaurkar, Sudarshan P; Gupta, Khushboo D; Parmar, Kirti S; Shah, Bela J

2013-05-01

91

Goldenhar Syndrome: A Report of 3 Cases  

PubMed Central

We report here 3 cases with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia), and facial microsomia. One of the patients also had vitiligo, which is yet to be reported as an association. PMID:23723509

Gaurkar, Sudarshan P; Gupta, Khushboo D; Parmar, Kirti S; Shah, Bela J

2013-01-01

92

A case report of neuroleptic malignant syndrome.  

PubMed

A 32-year-old male patient with a history of treatment resistant paranoid schizophrenia developed neuroleptic malignant syndrome (NMS) during changeover of his antipsychotic medication from zuclopenthixol depot to clozapine. This case highlights the difficulties of cross-tapering two antipsychotics-that is, converting from a typical depot medication to an oral atypical antipsychotic. PMID:21686818

Kuchibatla, Shankar Srinivas; Cheema, Sofia Akram; Chakravarthy, Kripa S; Sayeh, Hany George El

2009-01-01

93

[Carpal tunnel syndrome. 1351 surgical cases].  

PubMed

An analysis was conducted of 1351 cases of carpal tunnel syndrome operated upon in the Department. Plastie and Hand Surgery of the Civil Hospital, Legnano (Italy) between 1966 and 1984. Positive evaluation of efficacy of therapy applied was possible and emphasized the need for diagnosis early enough for operation, the only valid treatment, to be undertaken. PMID:3771669

Morelli, E; Pajardi, G; Saporiti, E

1986-01-01

94

Stiff limb syndrome: a case report  

PubMed Central

Introduction Stiff limb syndrome is a clinical feature of the stiff person syndrome, which is a rare and disabling neurologic disorder characterized by muscle rigidity and episodic spasms that involve axial and limb musculature. It is an autoimmune disorder resulting in a malfunction of aminobutyric acid mediated inhibitory networks in the central nervous system. We describe a patient diagnosed by neurological symptoms of stiff limb syndrome with a good outcome after treatment, and a review of the related literature. Case presentation A 49-year-old male patient presented with a progressive stiffness and painful spasms of his both legs resulting in a difficulty of standing up and walking. The diagnosis of stiff limb syndrome was supported by the dramatically positive response to treatment using diazepam 25 mg/day and baclofen 30 mg/day. Conclusion This clinical case highlights the importance of a therapeutic test to confirm the diagnosis of stiff limb syndrome especially when there is a high clinical suspicion with unremarkable electromyography PMID:20205913

2010-01-01

95

Gorham-Stout syndrome: a case report.  

PubMed

Gorham-Stout syndrome, is an extremely rare disease of the bone, characterized for vascular and lymphatic channels proliferation in bony segments and consequent osseous resorption. There are around 200 cases reported around the world. Although bisphosphonates are used for symptoms relief, there is no standardized treatment established. We present a case that was diagnosed in our centre secondary to a resistant epistaxis and a literature review of this condition. PMID:24825048

Posadas, M D; Viejo Stuart, S; Romano, O; Giamello, A

2014-01-01

96

Goldenhar Syndrome - Review with Case Series  

PubMed Central

Goldenhar’s syndrome is a rare condition which was described initially in the early 1950s. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformations of the ears. In 1963, Gorlin suggested the name, oculo-auriculo-vertebral (OAV) dysplasia for this condition and he also included vertebral anomalies as signs of this syndrome. The aetiology of this rare disease has not been fully understood, as it has shown itself to be variable genetically and to be caused due to unclear reasons. Here, we are reporting two cases of Goldenhar’s syndrome, where almost all the classical signs of this rare condition were present. PMID:24959523

Sreenivasan, Arathi; Saraswathy, Gopal K

2014-01-01

97

A special case of Wellens' syndrome  

PubMed Central

Wellens' syndrome is a pattern of electrocardiographic T-wave changes associated with critical stenosis of proximal left anterior descending artery (LAD). T-waves abnormalities were found in precordial leads, especially in V2–V3 during pain-free periods, and ECG obtained during episodes of pain demonstrates upright T-waves with possible elevated or isoelectric ST segments. Early recognition and appropriate intervention carries significant diagnostic and prognostic value. We reported a case of Wellens' syndrome with different etiology and prognosis. Although the ECG showed typical T-wave changes in V2–V5 leads, patient's coronary angiography revealed moderate stenosis in proximal LAD, and coronary artery spasm was suggested. Unlike the classic Wellens' syndrome, which needs aggressive coronary intervention, our patient fared well with conservative medical therapy (diltiazem and nitrates) and showed favorable prognosis. PMID:24023474

Abulaiti, Alimujiang; Aini, Renaguli; Xu, Hiarong; Song, Zejun

2013-01-01

98

Recognizing Diogenes syndrome: a case report  

PubMed Central

Background Diogenes syndrome is a behavioural disorder characterized by domestic squalor, extreme self-neglect, hoarding, and lack of shame regarding one’s living condition. Patients may present due to a range of reasons. Recognizing these will allow for earlier management of this high-mortality condition. Case presentation 61-year Caucasian female known with bipolar 1 disorder presented with manic symptoms. She was very unkempt and foul smelling. After being admitted involuntarily, she requested that someone go to her home to feed her pets. Her house was filled with garbage, rotting food, and animal feces. She had no insight into any personal hygiene or public health problems. Conclusions Patients with Diogenes syndrome may be difficult to identify. Knowledge of the characteristics of Diogenes syndrome can aid in earlier recognition of such individuals, in order to decrease morbidity and mortality, and to improve public health. PMID:24886174

2014-01-01

99

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened  

Microsoft Academic Search

Many signaling proteins including G protein-coupled receptors localize to primary cilia, regulating cellular processes including differentiation, proliferation, organogenesis, and tumorigenesis. Bardet-Biedl Syndrome (BBS) proteins are involved in maintaining ciliary function by mediating protein trafficking to the cilia. However, the mechanisms governing ciliary trafficking by BBS proteins are not well understood. Here, we show that a novel protein, Leucine-zipper transcription factor-like

Seongjin Seo; Qihong Zhang; Kevin Bugge; David K. Breslow; Charles C. Searby; Maxence V. Nachury; Val C. Sheffield

2011-01-01

100

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

E-print Network

Distinct patterns of language impairment in Down's syndrome and Williams syndrome: The case (DS), and 10 with Williams Syndrome (WS). We propose a syntactic account of the difficulties of people patterns of impairment. q 2005 Elsevier Ltd. All rights reserved. Keywords: Down's syndrome; Williams

Stromswold, Karin

101

[Waardenburg syndrome type I: case report].  

PubMed

Waardenburg syndrome (WS) type I is a non-progressive auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum (lateral displacement of the inner canthi). Affected individuals may have higher risk of: neural tube defects, cleft lip and palate, limb abnormalities, and Hirschsprung disease. The diagnosis is clinical and should be considered if the individual has two major or one major plus two minor criteria. PAX3 is the only known gene associated to the syndrome. Nevertheless, its use is mostly for genetic counseling. Regarding different diagnosis, we may list: other causes of non-progressive auditory-pigmentary disorder comprising congenital sensorineural hearing loss, other types of Waardenburg syndrome, piebaldism, albinism, vitiligo and Teitz syndrome. This paper presents a case of an eleven year old boy with deafness and ophthalmologic alterations, based on his files and exams. It reinforced the importance of the ophthalmologist contributing for the diagnosis of this rare systemic disease, as it includes some ophthalmologic alterations. We remind that the early diagnosis allows adequate stimulation for the hearing loss, as well as preventive measures in case of pregnant women affected by genetic counseling. PMID:21915450

Silva, Patricia Capua Vieira da; Rangel, Paula; Couto Jr, Abelardo

2011-01-01

102

The first Japanese case of COACH syndrome.  

PubMed

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

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

103

Pathology Case Study: Cushing's Syndrome  

NSDL National Science Digital Library

The Department of Pathology at the University of Pittsburgh Medical Center has compiled a wide range of pathology case studies to aid students and instructors in the medical/health science field. This particular case involves a 41 year-old woman experiencing the following symptoms for a period of 18 months: fatigue, weakness, lethargy, and decreased concentration. The patientâ??s history, description of CT scans, and images from histological examinations, which contributed to the conclusive diagnosis, are all provided here for your review. The contributing doctors provide a detailed discussion of the patientâ??s condition in the â??Final Diagnosisâ?ť section. Students will find this resource especially helpful, as it provides experience with patient history, lab results, and diagnostics.

Dacic, Sanja

104

Proteus syndrome: A rare case report  

PubMed Central

Proteus syndrome (PS) is a rare hamartomatous disorder characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. Partial gigantism with limb or digital overgrowth is pathognomonic of PS. We report a rare case of PS in a 50-year-old man who presented with inferior wall myocardial infarction and was incidentally detected to have hypertrophy of index and middle fingers of both the hands. PMID:23716948

Talari, Keerthi; Subbanna, Praveen Kumar Arinaganhalli; Amalnath, Deepak; Suri, Subrahmanyam Dharanitragada Krishna

2012-01-01

105

A Pediatric Case of Ramsay Hunt Syndrome  

PubMed Central

Ramsay Hunt syndrome (RHS) is characterized by facial paralysis, inner ear dysfunction, periauricular pain, and herpetiform vesicles. The reported incidence in children is 2.7/100,000. The pathogenesis involves the reactivation of latent varicella zoster virus (VZV) in the geniculate ganglion of the facial nerve. The recovery rate is better in children than in adults. This paper discusses a 12-year-old girl with a rare case of peripheral facial paralysis caused by RHS and reviews the literature. PMID:25276457

Derin, Serhan; Derin, Hatice; Sahan, Murat; Çaksen, Hüseyin

2014-01-01

106

Rare case of orofaciodigital syndrome type I  

PubMed Central

Orofaciodigital syndrome (OFDS) is a group of congenital anomalies which affects the face, oral structures and digits. There are nine subtypes with different modes of inheritance. OFDS type I is an X-linked dominant trait with lethality in the vast majority of affected males. We report a case of OFDS type I in an Indian girl at the age of seven who had most of the typical features of OFDS type I and nephrocalcinosis. PMID:23417374

Singh, Abhishek Bahadur; Girhotra, Manish; Goel, Medha; Bhatia, Shilpee

2013-01-01

107

Gammahydroxybutyrate withdrawal syndrome: a case report  

Microsoft Academic Search

INTRODUCTION: To raise awareness among health care workers of the risk of withdrawal symptoms after longstanding and intense abuse of gamma-hydroxybutyric acid. CASE PRESENTATION: A 23 year old Caucasian woman presented with gamma-hydroxybutyric addiction and withdrawal syndrome. The symptoms of gamma-hydroxybutyric withdrawal in this patient initially went unrecognized, upon which her situation deteriorated in such a way that she needed

Michael A Kuiper; Nicole Peikert; E Christiaan Boerma

2009-01-01

108

Christ Siemens Touraine syndrome: a case report  

PubMed Central

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

2009-01-01

109

[Fetal Escobar syndrome--a case report].  

PubMed

The Escobar variant of multiple pterygium syndrome (MPS) is a rare, autosomal recessive disorder which may lead to many serious or even lethal fetal abnormalities. MPS is characterized by pterygia, arthrogryposis (joint contractures), and intrauterine growth restriction (IUGR). In the case described below, increased fetal nuchal translucency was the first abnormality diagnosed already in the first trimester of pregnancy. Other symptoms of the disease were found during the second trimester of pregnancy using ultrasonography examination. Also, genetic amniocentesis revealed no genetic disorders and the Escobar syndrome was diagnosed post mortem. Parental and maternal genetic examinations were performed and allowed for early prenatal diagnostics in the next pregnancy resulting in the birth of a healthy newborn. PMID:25219146

Olejniczak, Tomasz; Niepsuj-Binia?, Joanna; Rabiega-Gmyrek, Dorota; Guglas-Bochy?ska, Bogna; Opala, Tomasz

2014-08-01

110

Prune Belly syndrome: A rare case report  

PubMed Central

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.

Samal, Sunil Kumar; Rathod, Setu

2015-01-01

111

Stewart–Treves syndrome: a case report  

PubMed Central

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

Benmansour, Anis; Laanaz, Saad; Bougtab, Abdeslam

2014-01-01

112

Shushkakshipaka (dry eye syndrome): A case study  

PubMed Central

Ashru-tear secretion is an integral component of the ocular surface physiology; when compromised (quantitatively or qualitatively) lead to shushkakshipaka (dry eye syndrome) with various ocular discomfort symptoms and ultimately the patient may land in corneal blindness.Local, systemic and environmental factors play a major role in its pathogenisis. Vata& Pitta/Rakta vitiation as per Ayurvedic view point are the major contributing pathological factors in its manifestation. Contrary to the available modern medical treatment / management regimen; Ayurveda propounds a systematic systemic/ holistic treatment approach in the treatment of dry eye syndrome. A patient of shushkakshipaka was treated with such treatment protocol, is presented as a case study in this article PMID:21897644

Dhiman, K. S.

2011-01-01

113

Median Arcuate Ligament Syndrome: A Case Report  

PubMed Central

Background The median arcuate ligament passes superior to the origin of the celiac artery and is a continuation of the posterior diaphragm that wraps over the aorta. If it lies too low on the aorta, the ligament may cause symptoms of abdominal pain related to compression of the celiac artery. Case Report An abdominal ultrasound in a 22-year-old woman with longstanding abdominal pain after eating showed elevated celiac artery velocities of >300 cm/s upon inspiration. Computed tomography angiography of the abdomen showed stenosis of the origin of the celiac artery and confirmed the diagnosis of median arcuate ligament syndrome. Laparoscopic release of the median arcuate ligament resulted in relief of the patient's symptoms. Conclusion The diagnosis of median arcuate ligament syndrome should be considered in patients with postprandial abdominal pain that does not have a clearly established etiology. PMID:24358009

Lainez, Romeo A.; Richardson, William S.

2013-01-01

114

Cornelia de Lange syndrome: a case study.  

PubMed

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

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

2009-02-01

115

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

PubMed Central

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

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

2014-01-01

116

Non-Syndromic Multiple Odontogenic Keratocyst: A Case Report  

PubMed Central

Odontogenic keratocyst (OKC) is a common developmental odontogenic cyst affecting the maxillofacial region. Multiple OKCs are usually seen in association with nevoid basal cell carcinoma syndrome (NBCCS) but approximately 5% of patients with OKC have multiple cysts without concomitant syndromic presentation. This report represents a case of multiple OKCs in a non-syndromic patient PMID:24724137

Kargahi, N; Kalantari, M

2013-01-01

117

Non-syndromic multiple odontogenic keratocyst: a case report.  

PubMed

Odontogenic keratocyst (OKC) is a common developmental odontogenic cyst affecting the maxillofacial region. Multiple OKCs are usually seen in association with nevoid basal cell carcinoma syndrome (NBCCS) but approximately 5% of patients with OKC have multiple cysts without concomitant syndromic presentation. This report represents a case of multiple OKCs in a non-syndromic patient. PMID:24724137

Kargahi, N; Kalantari, M

2013-09-01

118

Atypical Presentations of Leigh Syndrome: A Case Series and Review  

Microsoft Academic Search

Patients with Leigh syndrome classically present in early childhood with developmental regression, ataxia, and hypotonia with subsequent respiratory and brain- stem dysfunction. However, the clinical presentation can be highly variable. This report presents five cases of Leigh syndrome with atypical presentations. The first patient is a 17-month-old female who presented with progressive limb weakness diagnosed as Guillain- Barré syndrome. Postmortem

Richard J. Huntsman; D. Barry Sinclair; Ravi Bhargava; Alicia Chan; Huntsman RJ; Sinclair DB; Chan A. Atypical

119

A case of treacher collins syndrome.  

PubMed

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation. PMID:24778568

Ulusal, S; Gürkan, H; Vatansever, U; Kürkçü, K; Tozkir, H; Acuna?, Ba

2013-12-01

120

A Case of Treacher Collins Syndrome  

PubMed Central

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation. PMID:24778568

Ulusal, S; Gürkan, H; Vatansever, Ü; Kürkçü, K; Tozkir, H; Acuna?, BA

2013-01-01

121

Cotard's syndrome: analysis of 100 cases.  

PubMed

In 1880, Jules Cotard reported a clinical state he believed was a new type of agitated melancholia. A statistical analysis has been carried out of 100 cases of Cotard's syndrome to determine how this clinical concept has fared since its inception. In terms of clinical profile, no difference was found between men and women or between underlying diagnostic categories; age seemed to increase the likelihood of developing délire des négations. Depression was reported in 89% of subjects; the most common nihilistic delusions concerned the body (86%) and existence (69%). Anxiety (65%) and guilt (63%) were also common, followed by hypochondriacal delusions (58%) and delusions of immortality (55). An exploratory factor analysis extracted 3 factors: psychotic depression, Cotard type I and Cotard type II. The psychotic depression factor included patients with melancholia and few nihilistic delusions. Cotard type 1 patients, on the other hand, showed no loadings for depression or other disease and are likely to constitute a pure Cotard syndrome whose nosology may be closer to the delusional than the affective disorders. Type II patients showed anxiety, depression and auditory hallucinations and constitute a mixed group. This new grouping cuts across the more traditional view and may have therapeutic implications. Authors, in general, have considered délire des négations as a syndrome rather than a new disease and do not seem to support the view that the completeness of the syndrome is a function of presence or severity of depression. The view that délire des négations refers only to the delusion of being dead has also carried little favour as its likely to waste information. PMID:7625193

Berrios, G E; Luque, R

1995-03-01

122

A Case with Repeated Recurrent Acute Coronary Syndrome due to Pseudoephedrine Use: Kounis Syndrome  

PubMed Central

Allergic reaction-associated acute coronary syndrome picture is defined as Kounis syndrome. Although drug use is the most common cause of allergic reaction, foods and environmental factors may also play a role in the etiology. Herein, a case with acute coronary syndrome that developed two times at 8-month interval due to pseudoephedrine use for upper respiratory tract infection is presented. PMID:25435880

Çeliker, Metin; Tuncer, Mustafa; ?ekeralmaz, Ali

2014-01-01

123

[The small left colon syndrome. 3 cases].  

PubMed

In the light of three cases of neonatal obstruction related to a small calibre descending colon, the authors review the main clinical and radiological signs and compare them with the data in the literature. This functional disturbance is related to immaturity of the intrinsic innervation of the colon which is especially common in low birth weight neonates or of diabetic mothers. Diagnosis is dependent upon enema using diluted uroangiographic hydrosoluble iodine contrast medium, which shows a disparity in calibre at the left colic angle. The differential diagnosis lies with Hirschsprung's disease. Functional ileus in premature infants, meconium ileus and the "small left colon syndrome" are related to the same pathogenisis: functional immaturity of the colon. PMID:980789

Neuenschwander, S; Montagne, J P; Boudou, A; Bouron, D; Mougenot, J F; Gruner, M; Faure, C

1976-10-23

124

[Ogilvie syndrome. Report of two cases].  

PubMed

Acute colonic pseudo-obstruction or "Ogilvie syndrome (OS)," is a gastrointestinal motility disorder characterized by marked dilatation of the colon in the absence of mechanical obstruction. It occurs most commonly in the postoperative state or with severe medical illness; it has been associated with a wide range of comorbidities, including trauma, pelvic surgery (orthopedic, gynecologic, urologic), metabolic disorders, central nervous system disorders, and prostaglandin abnormalities. OS may also be drug induced or idiopathic. Left untreated, it can progress to perforation, peritonitis, and death. Definitive management of OS traditionally has consisted of mechanical decompression. However, neostigmine, an acetyl-cholinesterase inhibitor, has recently emerged as a safe and effective pharmacologic alternative in the adult population. We present two cases of OS attended in the intensive care unit treated with colonoscopy and cecostomy respectively. PMID:20550865

Abraján-Hernández, Octavio Iván; Castańón-González, Jorge Alberto; León-Gutiérrez, Marco Antonio; Tejeda-Huezo, Brigette; Sánchez-Hurtado, Luis; Serrano-Cuevas, Leonor; Hernández-Ramírez, Daniel Alejandro

2009-01-01

125

Rituximab for refractory cases of childhood nephrotic syndrome  

Microsoft Academic Search

Rituximab has been used over the last decade as a rescue therapy for refractory cases of nephrotic syndrome (NS). Here we\\u000a report the use of rituximab in four children with idiopathic steroid-resistant nephrotic syndrome (SRNS) with various histological\\u000a backgrounds (two cases with focal segmental glomerulosclerosis, one case with IgM nephropathy, and one case with minimal change\\u000a disease), who failed to

Jameela A. Kari; Salah M. El-Morshedy; Sherif El-Desoky; Hammad O. Alshaya; Khawla A. Rahim; Burhan M. Edrees

2011-01-01

126

[Prune-Belly Syndrome: a case report].  

PubMed

Prune-Belly Syndrome (PBS) is a rare congenital syndrome characterized by the absence of abdominal muscles, anomalies in the urinary tract, megaureter, cryptorchidism or testicular agenesis, hypertension and worsening chronic kidney disease (CKD). The incidence is estimated between 1 out of 35,000 and 1 out of 50,000 born alive, and it affects males in prevalence (97%). In the present study we describe the case of a 38 year old male patient (followed since May 2011) affected by PBS, CKD, one functional kidney at the scintigraphy, pediatric testicular implants, bladder surgery and correction of pectus excavatum. At the beginning of the observation, renal function was deteriorated, with a creatinine 3.3 mg/dl, GFR calculated at MDRD 23 ml/min, proteinuria in nephrotic range (4 g/day), high blood pressure, anemia and hyperparathyroidism. In the following examinations renal function framework worsened, despite the adoption of a low-protein diet. Due to the functional trend, the patient was prescribed hemodialysis as substitute treatment. In January 2013 a first attempt of artero-venous fistula (AVF) did not succeed, while a new AVF in March 2013 resulted effective. In July hemodialysis was started. In the future, we expect to insert the patient in the Kidney Transplant List (since surgical feasibility has already been positively evaluated). Our case is quite peculiar due to the late beginning of substitute treatment. Further, SPB represents a challenge that, in the absence of a prompt and effective treatment, inevitably it leads to terminal uremia; nevertheless, given a proper treatment, a transplant with good chances of success can be envisaged. PMID:25030009

Tattoli, Fabio; De Prisco, Ornella; Gherzi, Maurizio; Falconi, Daniela; Marazzi, Federico; Marengo, Marita; Serra, Ilaria; Tamagnone, Michela; Formica, Marco

2014-01-01

127

OLMSTED SYNDROME: REPORT OF TWO CASES  

PubMed Central

Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female patients of Olmsted syndrome, who presented with perioral hyperkeratosis and palmoplantar keratoderma. One of our patients also had woolly hair from birth and flexion contracture of a digit, while the other had pseudoainhum. There was no cardiac involvement. Hence, the diagnosis of Olmsted syndrome was made. PMID:22121289

Tharini, G K; Hema, N; Jayakumar, S; Parveen, B

2011-01-01

128

The G syndrome: A case report  

Microsoft Academic Search

The WAGR syndrome is a multiple congenital anomaly-mental retardation syndrome caused by interstitial deletion of the distal portion of chromosome 11p13. It is a contiguous gene deletion syndrome, and WAGR is an acronym for the primary features: W for Wilms tumor, A for aniridia, G for genital anomalies, an d R for mental retardation. Wilms tumor and male genita l

Cheryl Rockman Greenberg; Dean Schraufnagel; John M. Optiz

1979-01-01

129

[A case of Sagliker syndrome and literature review].  

PubMed

We analyzed the characters of Sagliker syndrome by reporting a case of Sagliker syndrome and reviewed literature. We found that Sagliker syndrome had low incidence rate, young onset age, and was more common in women. There were high levels of alkaline phosphatase and parathyroid hormone in the blood of the patients. Patients with Sagliker syndrome with primary onset of non-diabetic nephropathy usually had chronic glomerulonephritis. We thought that secondary hyperparathyroidism in patients with Sagliker syndrome was induced by parathyroid hyperplasia, but high levels of alkaline phosphatase and parathyroid hormone in the blood of the patients with the secondary hyperparathyroidism were the main cause of Sagliker syndrome. Parathyroidectomy could stop the progress of Sagliker syndrome, but it could not reverse the occurrence of skeletal malformation. PMID:25355264

Wu, Wei; Qian, Liyuan; Chen, Xuedong; Ding, Boni

2014-10-01

130

Parry Romberg syndrome with localized scleroderma: A case report.  

PubMed

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

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

2014-07-01

131

Mandibulofacial dysostosis (Treacher Collins syndrome): a case report.  

PubMed Central

Mandibulofacial dysostosis, also known as Treacher Collins syndrome, is a rare congenital anomaly that must be identified in infancy to prevent irrevocable developmental impairment. Information is sparse in the current medical literature concerning this rare syndrome. This article reports a case of Treacher Collins syndrome with the presence of a scarring alopecia and acne keloidalis nuchae, which are possibly coincidental symptoms, but have not been previously described clinically in this malady. Images Figurs 1,2 & 3 Figure 4 PMID:1296999

Mittman, D. L.; Rodman, O. G.

1992-01-01

132

Scalp-Ear-Nipple Syndrome: A Case Report  

PubMed Central

The scalp-ear-nipple (SEN) syndrome is an infrequent congenital disease. Its main features are scalp defects, malformed ears, and absence of nipples. Most of the reported cases are autosomal dominant. We report on a patient suffering SEN syndrome with possible autosomal recessive inheritance. It is concluded that SEN syndrome should be recognized as an entity with genetic heterogeneity once there is evidence of different genetic manner of inheritance described in this disease. PMID:24660003

Morales-Peralta, Estela; Andrés, Vivian; Campillo Betancourt, Dainé

2014-01-01

133

Features of Two Cases with 18q Deletion Syndrome  

PubMed Central

The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearing loss. The need to perform a karyogram analysis in cases presenting with these features is emphasized. PMID:24637311

Özsu, Elif; Ye?iltepe Mutlu, Gül; Büte Yüksel, Ay?egül; Hatun, ?ükrü

2014-01-01

134

Prune belly syndrome in an Egyptian infant with Down syndrome: A case report  

Microsoft Academic Search

INTRODUCTION: Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. CASE PRESENTATION: A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with

Kotb A Metwalley; Hekma S Farghalley; Alaa A Abd-Elsayed

2008-01-01

135

Non-syndromic odontogenic keratocysts: A rare case report  

PubMed Central

Odontogenic keratocysts are very well documented in the literature. Multiple odontogenic keratocysts (OKCs) are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBCCS). It is linked with mutation in the PTCH gene (human homolog of the drosophila segment polarity gene, “patched”,). Partial expression of the gene may result in occurrence of only multiple recurring OKC without any associated systemic findings. A rare case of multiple odontogenic keratocysts unassociated with any syndrome is reported, so as to add to the growing number of such cases in the literature. The possibility of this case being a partial expression of the Gorlin-Goltz syndrome is discussed. PMID:24163561

Kurdekar, Raghavendra S.; Prakash, Jeevan; Rana, A. S.; Kalra, Puneet

2013-01-01

136

Non-syndromic odontogenic keratocysts: A rare case report.  

PubMed

Odontogenic keratocysts are very well documented in the literature. Multiple odontogenic keratocysts (OKCs) are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBCCS). It is linked with mutation in the PTCH gene (human homolog of the drosophila segment polarity gene, "patched",). Partial expression of the gene may result in occurrence of only multiple recurring OKC without any associated systemic findings. A rare case of multiple odontogenic keratocysts unassociated with any syndrome is reported, so as to add to the growing number of such cases in the literature. The possibility of this case being a partial expression of the Gorlin-Goltz syndrome is discussed. PMID:24163561

Kurdekar, Raghavendra S; Prakash, Jeevan; Rana, A S; Kalra, Puneet

2013-01-01

137

Happle-Tinschert Syndrome: Report of a Case with Hemimegalencephaly  

PubMed Central

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

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

2014-01-01

138

Happle-Tinschert syndrome: report of a case with hemimegalencephaly.  

PubMed

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

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

2014-01-01

139

A case of neonatal Jeune syndrome expanding the phenotype  

PubMed Central

Key Clinical Message We report the case of a premature, very low birth weight, newborn with stigmata of Jeune syndrome, a rare skeletal dysplasia, and marked renal involvement (i.e. remarkable prenatal oligohydramnios, histologic nephronophthisis-like pattern, macroscopic renal cysts, and renal failure), expanding the phenotype consistent with the continuum of syndromic ciliopathies. PMID:25356276

Drera, Bruno; Ferrari, Daniela; Cavalli, Pietro; Poggiani, Carlo

2014-01-01

140

Unusual manifestation of the yellow nail syndrome - Case report*  

PubMed Central

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

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

2014-01-01

141

Churg-Strauss syndrome in childhood: a case report.  

PubMed

Churg-Strauss syndrome is a rare form of small-vessel vasculitis. In the current report, we describe the case of a 17-year-old Czech girl predominantly characterized by peripheral neuropathy, the presence of cardiac and pulmonary involvement, hypereosinophilia, asthma, and sinusitis that led to the diagnosis of Churg-Strauss syndrome. PMID:24170259

Albahri, Ziad; Minxová, Lenka; Lukeš, Antonín; Mawiri, Abdul Al; Štefá?ková, Šárka

2014-10-01

142

Two cases of hemihyperplasia-multiple lipomatosis syndrome and review of asymmetric hemihyperplasia syndromes.  

PubMed

Hemihyperplasia-multiple lipomatosis syndrome (HHML) is a condition characterized by asymmetric nonprogressive overgrowth, multiple lipomas, and superficial vascular malformations. We present two cases of HHML to enhance the diagnostic acumen of dermatologists and avoid potential misdiagnosis of this rare but probably underrecognized entity. We also provide a brief review of asymmetric overgrowth syndromes, which have overlapping yet distinct clinical manifestations. PMID:23458125

Craiglow, Brittany G; Ko, Christine J; Antaya, Richard J

2014-01-01

143

Case Reports A case of opsoclonus myoclonus syndrome  

E-print Network

‘Opsoclonus myoclonus syndrome ’ (OMS), also known as ‘myoclonic encephalopathy of Kinsbourne ’ 1 and ‘dancing eyes-dancing feet syndrome’, is a very rare disorder commonly associated with paraneoplastic features of

A N K De Silva; R N Morawakkorala; K A N S Kannangara; K Guruge

144

Kindler's syndrome: A rare case report  

PubMed Central

Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. PMID:24963250

Suman, Neelam; Kaur, Simrat; Kaur, Supreet; Sarangal, Vandana

2014-01-01

145

[Münchausen syndrome by proxy. A case report].  

PubMed

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

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

2009-02-01

146

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

E-print Network

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

Carr, Leslie

147

Double crush syndrome in the lower extremity: a case report.  

PubMed

Upton and McComas first described double crush syndrome in 1973. The theory behind double crush syndrome postulated that a proximal lesion in a nerve would make that same nerve more vulnerable to additional distal lesions. Many of the studies investigating the possibility of the double crush syndrome involve lesions in the upper extremity with very few articles written specifically about double crush syndrome in the lower extremity. We present the case of a 33-year-old massage therapist who uses her feet to provide therapy to clients who presented to our clinic with symptoms consistent with tarsal tunnel syndrome. Her failure to progress in a satisfactory manner after a variety of therapies made us search for additional etiologies for her foot pain. In cases where tarsal tunnel persists after surgical therapy, the treating physician should search for more proximal lesions along the course of the nerve. PMID:22826333

Borgia, Anthony V; Hruska, Jerome K; Braun, Karina

2012-01-01

148

Codeine-Induced Syndrome of Inappropriate Antidiuretic Hormone: Case Report  

PubMed Central

Background: The syndrome of inappropriate antidiuretic hormone was first described in 1957 by Schwartz, and is characterised by hyponatraemia, inappropriately increased urine osmolality and urine sodium, and decreased serum osmolality in a euvolemic patient without edema. A patient with the syndrome of inappropriate antidiuretic hormone should have normal cardiac, renal, adrenal, hepatic, and thyroid functions and should not take any diuretics. Case Report: We present a case of the syndrome of inappropriate antidiuretic hormone caused by codeine and associated with reduced urine volume, increased urine sodium, and decreased serum sodium concentration. Conclusion: The syndrome of inappropriate antidiuretic hormone is a disease that can lead to morbidity and even mortality. Clinicians should measure serum electrolytes intermittently in order to avoid missing the diagnosis of the syndrome of inappropriate antidiuretic hormone in patients using opioid. PMID:25207179

Karahan, Samet; Karagöz, Hatice; Erden, Abdulsamet; Avc?, Deniz; Esmeray, Kübra

2014-01-01

149

[Carpal tunnel syndrome in children. Apropos of 4 personal cases].  

PubMed

Four cases of Carpal Tunnel syndrome during childhood are reported. Two of them are post traumatic cases; for one child, the syndrome was caused by hypertrophic cal six months after trauma. The other child has been operated because of a median and ulnar nerve deficit syndrome, which appeared one month after fracture. In the third observation, the authors have seen an abnormal muscle just in front of annular anterior ligament of the carpus during surgery. This muscle was assimilated to hypertrophic Palmaris Brevis muscle. In the last observation, the adolescent had a Poland syndrome with Sprengel malformation. In this paper, the authors point out clinical particularities due to musculo-tendinous malformation which can lead to Carpal Tunnel syndrome. PMID:2091841

Brax, P; Destuynder, O; Rigaud, P; Ridoux, P E; Gille, P

1990-01-01

150

Transurethral resection of prostate syndrome: report of a case.  

PubMed

We report a case of transurethral resection of prostate (TURP) syndrome. A 78-year-old man with prostatic hypertrophy was scheduled for transurethral resection of the prostate under spinal anesthesia. 30 minutes after the end of the surgery, the patient presented signs of TURP syndrome with bradycardia, arterial hypotension, cyanosis, hypoxemia and coma. The electrolytes analysis revealed an acute hyponatremia (sodium concentration 125 mmol/L). Medical treatment consisted of hypertonic saline solution 3%, volume expansion, intubation and ventilation. The presented case describes a typical TURP syndrome, which was diagnosed and treated early. The patient was discharged from hospital without any complications. PMID:23503657

Boukatta, Brahim; Sbai, Hicham; Messaoudi, Ferdaous; Lafrayiji, Zakaria; El Bouazzaoui, Abderrahim; Kanjaa, Nabil

2013-01-01

151

Ogilvie's syndrome following cesarean delivery: The Dubai's case  

PubMed Central

We present a case of acute colonic pseudo obstruction (Ogilvie's Syndrome) post Cesarean Section in a 35 years old Arabic patient with co-existing systemic lupus erythematosus. Due to developed complications-perforations of the colon and peritonitis, the patient required laparotomy and right hemicolectomy. To our knowledge, this is the first case of Ogilvie's syndrome, reported from the Middle East. The possible etiologic factors, pathophysiology, clinical presentation, diagnostic work up and treatment are discussed. The need for awareness about the syndrome and early diagnosis is emphasized. PMID:21957421

Kotsev, Strahil

2011-01-01

152

Gorlin syndrome with bilateral polydactyly: a rare case report.  

PubMed

Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

Acharya, Sonu; Panda, Swagatika; Singh Dhull, Kanika; Sahoo, Sujit Ranjan; Ray, Prayas

2013-09-01

153

Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report  

PubMed Central

ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

Acharya, Sonu; Panda, Swagatika; Sahoo, Sujit Ranjan; Ray, Prayas

2013-01-01

154

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome".  

PubMed

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician. PMID:22629050

Shivaprakash, P K; Joshi, Hrishikesh V; Noorani, Hina; Reddy, Venugopal

2012-04-01

155

Swyer James syndrome: a case report.  

PubMed

Swyer James syndrome is a rare condition clinically characterized by bronchiolitis and pneumonitis early in life. A 2 year old girl referred to us with complaints of wheezing, chronic cough and fever since birth time. Based to her clinical symptoms and radiograph and CT scan findings, diagnosis of Swyer James syndrome was confirmed. She is under supportive treatment and her respiratory symptoms have been improved. PMID:20432792

Hassanzad, Maryam; Parsanejad, Nazanin; Khalilzadeh, Soheila

2010-01-01

156

The Medich giant platelet syndrome: two new cases.  

PubMed

Hypogranular platelet disorders in human subjects are relatively rare. They include the gray platelet syndrome, ?? storage pool deficiency, the Hermansky-Pudlak syndrome, and the white platelet syndrome. Perhaps the rarest of them all is the Medich giant platelet disorder. No additional cases of this condition have been reported since description of the first case in 2004. This study describes two children with thrombocytopenia and giant, hypogranular platelets found shortly after birth. Electron microscopic study of their platelets revealed sheets of membrane wrapped into tubes resembling scrolls. The scroll-like structures were open at both ends and often filled with glycogen particles. The abnormal structures are identical to those found in the initial case. As a result, the disorder can now be referred to as the Medich giant platelet syndrome. PMID:22931192

Gunning, William; Dole, Mukund; Brecher, Martin; White, James G

2013-01-01

157

Mouse models of ciliopathies: the state of the art  

PubMed Central

The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS) and Alström syndrome (ALS). Reflecting the manifold requirements for cilia in signalling, sensation and motility, different ciliopathies exhibit common elements. The mouse has been used widely as a model organism for the study of ciliopathies. Although many mutant alleles have proved lethal, continued investigations have led to the development of better models. Here, we review current mouse models of a core set of ciliopathies, their utility and future prospects. PMID:22566558

Norris, Dominic P.; Grimes, Daniel T.

2012-01-01

158

[Autoimmune polyglandular syndrome type 2 in pregnancy: a case report].  

PubMed

Autoimmune polyglandular syndromes are conditions characterized by the association of two or more organ-specific disorders. On the basis of the clinical picture, they are divided into four different types. If undiagnosed and untreated, autoimmune polyglandular syndromes may pose a serious risk to patients. We report here a case of a pregnant woman with autoimmune polyglandular syndrome type 2. She was diagnosed with Addison's disease 11 months before the onset of the pregnancy and until the end of the first trimester the disease was effectively controlled by hydrocortisone and fludrocortisone treatment. In the tenth week of gestation, the patient developed Graves' disease and the treatment with propylthiouracil was started treatment leading to the unmasking of adrenal insufficiency, which required titration of hydrocortisone dose. Our study shows that autoimmune polyglandular syndromes should be considered in every pregnant woman with any autoimmune endocrine disease and that the treatment of these syndromes during gestation may be challenging. PMID:23789305

Krysiak, Robert; Okopie?, Bogus?aw

2013-01-01

159

Superior Mesenteric Artery Syndrome Accompanying With Nutcracker Syndrome: A Case Report  

PubMed Central

Introduction: Superior mesenteric artery syndrome is an uncommon cause of duodenal obstruction, and its manifestations are generally associated with compression on the third part of the duodenum between the abdominal aorta and superior mesenteric artery. Case Presentation: In this report, a patient is described presenting with epigastric pain and weight loss due to superior mesenteric artery syndrome. The patient has also nutcracker syndrome, which is the compression of the left renal vein between the aorta and the superior mesenteric artery at its origin. Conclusions: In addition to an appropriate clinical history, CT findings indicating decreased aortomesenteric angle and a shortened aortomesenteric distance can suggest the diagnosis for both the superior mesenteric artery syndrome and accompanying nutcracker syndrome.

Inal, Mikail; Unal Daphan, Birsen; Karadeniz Bilgili, Mirace Yasemin

2014-01-01

160

Adolescent with Tourette Syndrome and Bipolar Disorder: A Case Report  

PubMed Central

Tourette syndrome consists of multiple motor tics and one or more vocal tics. Psychopathology occurs in approximately 90% of Tourette syndrome patients, with attention-deficit/hyperactivity, mood, and obsessive-compulsive disorders being common. Additionally, Tourette syndrome and bipolar disorder may be related in some individuals. However, it is unclear why bipolar disorder may be overrepresented in Tourette syndrome patients, and more research is needed. Herein, we report the case of a 15-year-old boy diagnosed with both Tourette syndrome and bipolar disorder, whose symptoms improved with aripiprazole, atomoxetine, and valproate. The patient was diagnosed with Tourette syndrome at 8 years of age when he developed tics and experienced his first depressive episode. The patient had a poor response to a variety of antidepressants and anti-tic medications. A combination of valproate and aripiprazole stabilized both the patient's tics and mood symptoms. It is important to assess individuals with Tourette syndrome for other disorders, including bipolar disorder. The treatment of children and adolescents with both Tourette syndrome and bipolar disorder is an important clinical issue. PMID:25598829

Kwon, Young-Joon

2014-01-01

161

Adolescent with tourette syndrome and bipolar disorder: a case report.  

PubMed

Tourette syndrome consists of multiple motor tics and one or more vocal tics. Psychopathology occurs in approximately 90% of Tourette syndrome patients, with attention-deficit/hyperactivity, mood, and obsessive-compulsive disorders being common. Additionally, Tourette syndrome and bipolar disorder may be related in some individuals. However, it is unclear why bipolar disorder may be overrepresented in Tourette syndrome patients, and more research is needed. Herein, we report the case of a 15-year-old boy diagnosed with both Tourette syndrome and bipolar disorder, whose symptoms improved with aripiprazole, atomoxetine, and valproate. The patient was diagnosed with Tourette syndrome at 8 years of age when he developed tics and experienced his first depressive episode. The patient had a poor response to a variety of antidepressants and anti-tic medications. A combination of valproate and aripiprazole stabilized both the patient's tics and mood symptoms. It is important to assess individuals with Tourette syndrome for other disorders, including bipolar disorder. The treatment of children and adolescents with both Tourette syndrome and bipolar disorder is an important clinical issue. PMID:25598829

Shim, Se-Hoon; Kwon, Young-Joon

2014-12-01

162

Wolf-Hirschhorn syndrome: a case study and disease overview.  

PubMed

Wolf-Hirschhorn syndrome is caused by a deletion of a segment on the short arm (p) of chromosome 4. The major features of this disorder include a characteristic facial appearance known as the "Greek helmet," delayed growth and development; prenatally and postnatally, intellectual disabilities, and seizures. To provide comprehensive and appropriate nursing and medical care to infants with Wolf-Hirschhorn syndrome, it is imperative to know and understand the disorder. A case study of a 36 weeks' gestational age white-Hispanic male infant with Wolf-Hirschhorn syndrome is presented with the purpose of increasing clinical knowledge and the implications for the clinical nurse and neonatal nurse practitioner. PMID:25137600

Bailey, Regina

2014-10-01

163

Thoracic Endometriosis Syndrome: Case Report and Review of the Literature  

PubMed Central

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

Azizad-Pinto, Parisa; Clarke, David

2014-01-01

164

Glucagonoma syndrome: a case report with focus on skin disorders  

PubMed Central

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

Fang, Sheng; Li, Shuang; Cai, Tao

2014-01-01

165

Gorlin-Goltz syndrome: A rare case report  

PubMed Central

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts. PMID:24403808

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-01-01

166

Gorlin-Goltz syndrome: A rare case report.  

PubMed

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts. PMID:24403808

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-10-01

167

[Sympathetically maintained pain syndrome--a case report].  

PubMed

Sympathetically maintained pain syndrome (SMPS) is considered to be a clinical form of reflex sympathic dystrophy. It develops usually after trauma, and consists of continuous, burning pain with sympathetic component. We present a case of this syndrome affecting both hands, that developed in a patient 3 months after severe burn injury. Intravenous fentolamine test was used to recognise sympathetic transmission of the pain. The management included regional intravenous fentolamine blocks and orally administrated phenoxybenzamine. The former gave only temporary relief; after latter improvement lasted 2 months, but patient eventually failed to recover. Diagnostic and therapeutic considerations concerning this syndrome were underlined. PMID:11875887

Zyluk, A; Walaszek, I

2001-01-01

168

The undiscovered syndrome: Macdonald Critchley's case of semantic dementia.  

PubMed

Semantic dementia is a unique clinicopathological syndrome in the frontotemporal lobar degeneration spectrum. It is characterized by progressive and relatively selective impairment of semantic memory, associated with asymmetric antero-inferior temporal lobe atrophy. Although the syndrome became widely recognized only in the 1980s, descriptions of cases with typical features of semantic dementia have been on record for over a century. Here, we draw attention to a well documented historical case of a patient with features that would have fulfilled current consensus criteria for semantic dementia, as reconstructed from the notes made by her neurologist, Macdonald Critchley, in 1938. This case raises a number of issues concerning the nosology of the semantic dementia syndrome and the potential value of archived case material. PMID:24818802

Witoonpanich, Pirada; Crutch, Sebastian J; Warren, Jason D; Rossor, Martin N

2015-08-01

169

Stewart-Bluefarb syndrome: a case report with angiographic findings.  

PubMed

Acroangiodermatitis is a group of benign, angioproliferative cutaneous disease caused by chronic venous insufficiency, acquired or congenital arteriovenous shunts and limb paralysis. Stewart-Bluefarb syndrome is the type of acroangiodermatitis which is associated with a congenital arteriovenous malformation. This is a rare syndrome characterized by cutaneous kaposiform lesions that usually onset at the second decade. In this report, a case of acroangiodermatitis associated with a congenital arteriovenous malformation, which has been diagnosed after 40 years, is described. PMID:19583690

Turk, Bengu Gerceker; Turk, Ugur Onsel; Alioglu, Emin; Akalin, Taner; Dereli, Tugrul

2009-07-01

170

Neonatal duodenal obstruction with emphasis on cases with Down's syndrome  

E-print Network

In the past 31 years, 47 cases of duodenal obstruction were admitted to the Royal Belfast Hospital for Sick Children. Thirty-sLx per cent of these had Down's syndrome. The crude mortality was 48 % but this figure was reduced to 33 % in the last five years of the study. The combination of duodenal obstruction, Down's syndrome and any other abnormality carried an 89 % risk of mortality.

1986-01-01

171

Cataract surgery in Knobloch syndrome: a case report  

PubMed Central

Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described. PMID:21691582

Bongiovanni, Carmen Sílvia; Ferreira, Carla Cristina Serra; Rodrigues, Ana Paula Silvério; Filho, Joăo Borges Fortes; Tartarella, Márcia Beatriz

2011-01-01

172

A Case of Reed's Syndrome: An Underdiagnosed Tumor Disorder  

PubMed Central

Cutaneous leiomyomas are uncommon, benign smooth muscle tumors originating from the arrector pili muscle of the hair follicle that are frequently unrecognized and underdiagnosed by clinicians. They sometimes coexist with common uterine fibroids in an inherited disorder named multiple cutaneous and uterine leiomyomatosis, also referred to as Reed's syndrome. We report a case of Reed's syndrome in a young woman who had been misdiagnosed for many years. PMID:25232316

Kontochristopoulos, Georgios; Kouris, Anargyros; Balamoti, Evgenia; Vavouli, Charitomeni; Markantoni, Vasiliki; Christofidou, Elefteria; Antoniou, Christina

2014-01-01

173

Gordon syndrome: literature review and a report of two cases.  

PubMed

The aim of this article is to publish a literature review and report on two new cases of Gordon syndrome (GS), a rare syndrome documented to have an autosomal dominant inheritance pattern or to occur sporadically; it is characterized by camptodactyly, cleft palate, and talipes equinovarus. We report two exceptional cases of GS where both patients were also diagnosed with congenital myopathy, and one developed malignant hyperthermia. These are the first two cases reported where patients were diagnosed with both GS and congenital myopathy or where GS is associated with malignant hyperthermia. PMID:24878349

Botha, Sarel J P; Bütow, Kurt-W

2015-01-01

174

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

PubMed

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

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

175

KMeyeDB: a graphical database of mutations in genes that cause eye diseases.  

PubMed

KMeyeDB (http://mutview.dmb.med.keio.ac.jp/) is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser with smooth user-interface, without user registration. The results are displayed on the graphical windows together with statistical calculations. All mutations and associated data have been collected from published articles. Careful data analysis with KMeyeDB revealed many interesting features regarding the mutations in 167 genes that cause 326 different types of eye diseases. Some genes are involved in multiple types of eye diseases, whereas several eye diseases are caused by different mutations in one gene. PMID:20232414

Kawamura, Takashi; Ohtsubo, Masafumi; Mitsuyama, Susumu; Ohno-Nakamura, Saho; Shimizu, Nobuyoshi; Minoshima, Shinsei

2010-06-01

176

Guillian-Barré Syndrome – a case study  

Microsoft Academic Search

‘Acute Guillian-Barré Syndrome is an acute inflammatory demyelinating disease of the peripheral nerves’ (Pfister & Bullas 1990) which affects the normal transmission of electrical impulses along these nerves and consequently the function of the organs and tissues which they innervate (Springhouse 1998, Waldock 1995). This disorder can rapidly replace an individual's busy and active lifestyle with one of total dependence,

C. E. Toft

2002-01-01

177

REVERSIBLEPOSTERIORLEUKO-ENCEPHALOPATHY SYNDROME: A CASE REPORT  

Microsoft Academic Search

SUMMARY In a patient who was hospitalized for acute illness, we have noted a syndrome of altered mental functioning, seizures, severe hypertension and renal dysfunction, with findings indicating predominantly posterior leukoencephalopathy on brain CT scan. The findings on brain CT scan are characteristic of subcortical edema without infarction and are reversible. The patient was treated with anti-hypertensive medications and the

Abdelfatah S; Burud S; Anies S; Ali JI; Tarek D

178

[Capgras syndrome in adolescence: a review apropos of one case].  

PubMed

The author report a case of Capgras' syndrome in a 12-years-old girl, who had been hospitalized for attacks of abdominal pain. These symptoms had gone on for two years and led twice to surgical interventions which did not find any organic etiology. Interviews with the girl showed that the abdominal pains were related to symptoms of typical panic attacks which lasted about 20 minutes. In some on them, she experienced multiple autoscopy and the "illusion des sosies", described by Capgras. Long-term evolution showed that Capgras' syndrome disappeared with improvement of the panic attacks, but ten years later the patient is still suffering from generalized anxiety. To our knowledge, no case, even in adult patients, was previously described in the context of panic attacks. Furthermore, Capgras' syndrome is particularly rare at adolescence. Our review of literature exhibits only 19 cases under 18. Diagnosis was available in 16 cases, and consisted of schizophrenia or schizophreniform psychosis in 62.5% of the cases. The others involved acute psychosis (2 cases), post-partum psychosis (1 case), drug-induced-psychosis (1 case), psychotic major depression (1 case), and post-varicella encephalitis (1 case). The doubles (out of the 15 cases where relevant detail is available) included at least a parent in 92.9% of patients, a brother or sister in 35.7%, a member of the medical team in 21.4% and a grand-parent in 14.3%. PMID:8674474

Chabrol, H; Bonnet, D

1995-01-01

179

Reported Cases of HPS (Hantavirus Pulmonary Syndrome)  

MedlinePLUS

... resulted in death. HPS in the U.S. Case Maps/Charts State of Exposure Reporting State State of ... Cases have been reported in 34 states ( see map ). More than 95% of reported cases have occurred ...

180

Alagille syndrome case report: implications for forensic pathology and anthropology.  

PubMed

This case report offers a multidisciplinary interpretation of the violent death of a 4-year-old girl suffering from Alagille syndrome who died after a low-height fall that resulted in temporal bone fracture and a large epidural hematoma. The article evidences the macroscopical and microscopical characteristics of the syndrome, focusing especially on the skeletal findings that emerged during autopsy. In the case report, distinction is made between a possible accidental or non-accidental nature of the injuries and the characteristics of the injury have been interpreted in the light of the existing data on Alagille syndrome. In conclusion, the death was documented as accidental since abnormalities in the skeletal system evidenced during autopsy have predisposed the death of the child albeit through a very mild head trauma. The case report evidences the importance of studying features of skull macro- and microstructure in patients with Alagille syndrome, which have been, until now, underreported in literature and which might contribute to fracture vulnerability in these patients. Although rare, Alagille syndrome is a condition that should be known to forensic medicine practitioners and whose features and peculiarities must be taken into consideration in pediatric autopsy and suspected child abuse cases. PMID:25194709

Petaros, Anja; Miletic, Damir; Stifter, Sanja; Slaus, Mario; Stemberga, Valter

2015-05-01

181

Cornelia de Lange syndrome: A case report  

Microsoft Academic Search

Cornelia de Lange is a genetic syndrome which affects between 1\\/10.000 and 1\\/60.000 neonates, but its genetic bases are still not clear. Its principal clinical characteristics are the delay in growth and development, hirsute, structural anomalies in the limbs and distinctive facial characteristic. Dental problems are frequent and include: ogival palate, micrognathia, dental malalignment, delayed teething, microdontic teeth, periodontal disease

Joaquim Grau Carbó; Julian López Jiménez; José Giménez Prats; Meritxell Sŕnchez Molins

182

Waardenburg Syndrome type 1: A case report.  

PubMed

Waardenburg Syndrome (WS) is a rare hereditary disorder that is characterized by the clinical manifestations of oculocutaneous anomalies of pigmentation, congenital deafness, dystopia canthorum, and broad nasal root. It demonstrates both genetically and clinically heterogenous characteristics. In this article, we report an 11-month-old boy with WS1, one of four clinicat types of WS. He exhibited white forelock, hypopigmented macules and patches, heterochromia irides, and dystopia canthorum. PMID:22136859

Demirci, Gulsen Tukenmez; At?s, Guldehan; Altunay, Ilknur K?vanc

2011-01-01

183

Waardenburg syndrome--a case report.  

PubMed

Waardenburg syndrome is a rare genetic disorder characterized by varying degree of deafness associated with pigmentary anomaly and defects of neural crest cell derived structures. Four subtypes (I-IV) with variable penetrance and gene expression of different clinical features have been described. We report a patient showing constellation of complete heterochromia, dystopia canthorum, white forelock, and synophrys. Other affected family relatives with heterochromia have been depicted in pedigree. PMID:23121842

Bansal, Yuvika; Jain, Parul; Goyal, Gaurav; Singh, Malvika; Mishra, Chittranjan

2013-02-01

184

CHARLES BONNET SYNDROME: TWO CASE REPORTS  

PubMed Central

Two patients diagnosed to have Charles Bonnet syndrome are presented. In one of these, the symptoms were self limiting while in the other, the patient refused carbamazepine therapy despite persistence of symptoms. Both were followed up regularly over the four years, and mental status examination and investigations done during this period were within normal limits. Both are currently fully functional in their respective professions PMID:21743701

Unni, K.E. Sadanandan

1994-01-01

185

Kabuki syndrome: a new case associated with Becker nevus.  

PubMed

Kabuki syndrome or Kabuki makeup syndrome was first described in 1981 in Japan by two different groups of authors. These investigators described a group of patients sharing typical facial features, skeletal anomalies, mental retardation, short stature, and dermatoglyphic anomalies. The term Kabuki makeup syndrome was coined because the peculiar facial features of the patients were reminiscent of the Japanese Kabuki theater masks. In 1988, Niikawa et al, after studying 62 patients, proposed five diagnostic criteria for this disease: peculiar facies (in 100% of all patients), skeletal anomalies (92%), dermatoglyphic anomalies (93%), medium to moderate mental retardation (92%), and short stature (83% of all cases). In addition to these findings, a variety of anomalies have been associated with this syndrome - the most serious being cardiac, renal, and urogenital abnormalities. We present a case of Kabuki syndrome in a 6-year-old boy who, in addition to the various features typical of the disease, also exhibited a Becker nevus - a condition not previously associated with this syndrome. The usefulness of dermoscopy in studying alterations in the dermatoglyphic patterns is also discussed. PMID:21906481

Cuesta, Laura; Betlloch, Isabel; Toledo, Fernando; Latorre, Nuria; Monteagudo, Almudena Flavia

2011-01-01

186

Early diagnosis of Gorlin-Goltz syndrome: case report.  

PubMed

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient. PMID:21266031

Casaroto, Ana R; Loures, Daniela C N Rocha; Moreschi, Eduardo; Veltrini, Vanessa C; Trento, Cleverson L; Gottardo, Vilmar D; Lara, Vanessa S

2011-01-01

187

Early diagnosis of Gorlin-Goltz syndrome: case report  

PubMed Central

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient. PMID:21266031

2011-01-01

188

Steinert's syndrome presenting as anal incontinence: a case report  

PubMed Central

Introduction Myotonic dystrophy (MD) or Steinert's syndrome is a rare cause of chronic diarrhea and anal incontinence. In the presence of chronic diarrhea and fecal incontinence with muscle weakness, neuromuscular disorders such as myotonic dystrophy should be considered in the differential diagnosis. Case Presentation We present the case of a 45-year-old Turkish man with Steinert's syndrome, who was not diagnosed until the age of 45. Conclusions In clinical practice, the persistence of diarrhea and fecal incontinence with muscle weakness should suggest that the physician perform an anal manometric study and electromyography. Neuromuscular disorders such as myotonic dystrophy should be considered in the differential diagnosis. PMID:21838873

2011-01-01

189

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report.  

PubMed

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient's life under threat. PMID:23837959

Fini, G; Belli, E; Mici, E; Virciglio, P; Moricca, L M; D'Itri, L; Leonardi, A; Malavenda, M S; Krizzuk, D; Merola, R; Maturo, A; Pasta, V

2013-01-01

190

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report  

PubMed Central

Summary: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient’s life under threat. PMID:23837959

FINI, G.; BELLI, E.; MICI, E.; VIRCIGLIO, P.; MORICCA, L.M.; D’ITRI, L.; LEONARDI, A.; MALAVENDA, M.S.; KRIZZUK, D.; MEROLA, R.; MATURO, A.; PASTA, V.

2013-01-01

191

A Case of Congenital Syndromic Hydrocephalus: A Subtype of ‘Game-Friedman-Paradice Syndrome'  

PubMed Central

Human hydrocephalus is a disorder of abnormality in CSF flow or resorption, which has been classified in pertinent literature as congenital and acquired. Congenital hydrocephalus can present as an isolated phenomenon which is common; or with associated anomalies affecting other organs, disturbing physiology or presenting as a syndrome. This report describes a case with congenital foetal hydrocephalus, hypoplastic lungs with super-numery lobations and large left lobe of liver compared to right. Thus far, a review of the literature indicates that this case can be postulated as a subtype of Game-Friedman-Paradice syndrome. PMID:23386950

Jana, Tapan Kumar; Roy, Hironmoy; Giri, Susmita

2013-01-01

192

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report.  

PubMed

Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome. PMID:21929773

Han, Yang; Wang, Yan; Li, Qingchang; Dai, Shundong; He, Anguang; Wang, Enhua

2011-01-01

193

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report  

PubMed Central

Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome. PMID:21929773

2011-01-01

194

Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome  

PubMed Central

Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. Here, we report a case of 58-year-old man from Ardabil who presented with seizure due to hypocalcemia. Further history revealed bilateral deafness. Audiogram confirmed sensorineural hearing loss of both sides. His laboratory data were consistent with hypoparathyroidism and renal failure. He was diagnosed to have Barakat syndrome based on his clinical and laboratory data. In conclusion, we need to be aware of rare inherited conditions in a patient with abnormal physical and laboratory findings even though their initial presentation was seizure and hypocalcemia. PMID:24527244

Bashardoust, Bahman; Iranparvar Alamdari, Manouchehr; Tavosi, Zahra

2013-01-01

195

Pisa syndrome secondary to rivastigmine: a case report.  

PubMed

Pisa syndrome or pleurothotonus is the persistent flexion of the body and head to one side giving the appearance of the leaning tower of Pisa. It is most commonly caused by typical and atypical antipsychotic drugs. We report a case of Pisa Syndrome caused by prolonged use of high dose cholinesterase inhibitor, rivastigmine. Symptoms subsided when rivastigmine was withdrawn and did not reappear when a different cholinesterase inhibitor, donepezil was introduced. Physicians should be aware of Pisa syndrome and should alert patient of this possibility when starting and stepping up medications. The purpose of reporting this case is to create awareness among general practitioners as it is a reversible condition which responds to removal of the offending drug. PMID:22362231

Leelavathi, M; Rosdinom, R; Suguna, M

2012-01-01

196

Diagnosis and treatment of SAPHO syndrome: A case report  

PubMed Central

The present study reports a rare case of synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome in an adult male. The 42-year-old man complained of skin lesions, chest pain and lumbago. Laboratory evaluations demonstrated an elevated erythrocyte sedimentation rate and increased levels of C-reactive protein. Computerized tomography, bone scintigraphy and magnetic resonance imaging revealed multiple bone lesions. A diagnosis of SAPHO syndrome was made. Non-steroidal anti-inflammatory drugs, alendronate sodium and steroids were administered, which resulted in clinical improvement. The current case study demonstrates that skin manifestation and multiple imaging modalities are important in generating a definite diagnosis of SAPHO syndrome, and that early treatment is vital for a positive outcome. PMID:25009594

SONG, XINGHUA; SUN, WENWEN; MENG, ZHAOWEI; GONG, LU; TAN, JIAN; JIA, QIANG; YU, CHUNSHUI; YU, TIELIAN

2014-01-01

197

A Case of Vander Woude Syndrome with Rare Phenotypic Expressions  

PubMed Central

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

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

2014-01-01

198

Joubert Syndrome: Imaging Features and Illustration of a Case  

PubMed Central

Summary Background Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus. Case Report We present another case of this uncommon syndrome in a 12 years old patient presenting with classical complaints of developmental delay, intellectual impairment, weakness in both lower limbs, ataxia and abnormal facies and diagnosed on Computed Tomography. Conclusions Joubert Syndrome should be ruled out in all patients presenting with hypotonia, ataxia, nystagmus, breathing abnormalities and developmental delay. Its neuroimaging hallmarks include molar tooth sign and batwing shaped fourth ventricle. As JS is associated with multiorgan involvement, these patients should enter a diagnostic protocol to assess systemic abnormalities. Extreme caution should be taken while administering drugs in these patients as they are prone to respiratory depression. PMID:25360184

Arora, Richa

2014-01-01

199

Structural basis for membrane targeting of the BBSome by ARL6.  

PubMed

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 Chlamydomonas 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, thus providing a molecular rationale for patient pathologies. PMID:25402481

Mourăo, André; Nager, Andrew R; Nachury, Maxence V; Lorentzen, Esben

2014-12-01

200

Abnormal development of NG2+PDGFR-?+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model.  

PubMed

Hydrocephalus is a common neurological disorder that leads to expansion of the cerebral ventricles and is associated with a high rate of morbidity and mortality. Most neonatal cases are of unknown etiology and are likely to have complex inheritance involving multiple genes and environmental factors. Identifying molecular mechanisms for neonatal hydrocephalus and developing noninvasive treatment modalities are high priorities. Here we use a hydrocephalic mouse model of the human ciliopathy Bardet-Biedl Syndrome (BBS) and identify a role for neural progenitors in the pathogenesis of neonatal hydrocephalus. We found that hydrocephalus in this mouse model is caused by aberrant platelet-derived growth factor receptor ? (PDGFR-?) signaling, resulting in increased apoptosis and impaired proliferation of chondroitin sulfate proteoglycan 4 (also known as neuron-glial antigen 2 or NG2)(+)PDGFR-?(+) neural progenitors. Targeting this pathway with lithium treatment rescued NG2(+)PDGFR-?(+) progenitor cell proliferation in BBS mutant mice, reducing their ventricular volume. Our findings demonstrate that neural progenitors are crucial in the pathogenesis of neonatal hydrocephalus, and we identify new therapeutic targets for this common neurological disorder. PMID:23160237

Carter, Calvin S; Vogel, Timothy W; Zhang, Qihong; Seo, Seongjin; Swiderski, Ruth E; Moninger, Thomas O; Cassell, Martin D; Thedens, Daniel R; Keppler-Noreuil, Kim M; Nopoulos, Peggy; Nishimura, Darryl Y; Searby, Charles C; Bugge, Kevin; Sheffield, Val C

2012-12-01

201

A case of serotonin syndrome and mutism associated with methadone.  

PubMed

A patient was seen on the palliative care service at our institution who developed serotonin syndrome and mutism associated with methadone use. Serotonin syndrome is often described as a clinical triad of mental status changes, autonomic hyperactivity, and neuromuscular abnormalities, but not all of these findings are consistently present in all patients with the disorder. The incidence of the serotonin syndrome is thought to mirror the increasing number of proserotonergic agents being used in clinical practice. In 2002, the Toxic Exposure Surveillance System, which receives case descriptions from office-based practices, inpatient settings, and emergency departments, reported 26,733 incidences of exposure to selective serotonin-reuptake inhibitors (SSRIs) that caused significant toxic effects in 7349 persons and resulted in 93 deaths. Serotonin syndrome is not an idiopathic drug reaction; it is a predictable consequence of excess serotonergic agonism of central nervous system (CNS) receptors and peripheral serotonergic receptors. The myriad of symptoms with which serotonin syndrome may present is compounded by the fact that more than 85% of physicians are unaware of serotonin syndrome as a clinical diagnosis. Other SSRIs such as fluoxetine and fluvoxamine have been shown to increase methadone plasma concentrations in dependent patients. Although the exact mechanism is unknown, there are several pathways via which a significant interaction could occur. This would include the effects methadone has on N-methyl-D-aspartate (NMDA) in addition to the impact of methadone on the cytochrome P450 enzyme system. The mainstay of treatment of serotonin syndrome is withdrawal of the offending agent and supportive care. These actions resulted in resolution of our patient's symptoms. Serotonin syndrome is becoming more common, and with the utilization of polypharmacy on many palliative care services should be considered as unifying differential diagnosis in the appropriate setting. PMID:17187532

Bush, Eric; Miller, Carol; Friedman, Irwin

2006-12-01

202

Bowel associated dermatosis – arthritis syndrome: a case report  

PubMed Central

We report a rare case of Bowel Associated Dermatosis – Arthritis Syndrome in a young patient with complex Crohn's disease who presented with fever, arthritis, rash and worsening of diarrhea with abdominal pain, who promptly responded to a short course of steroids. PMID:17803823

Ashok, Dayavathi; Kiely, Patrick

2007-01-01

203

Case Study of Childhood Disintegrative Disorder--Heller's Syndrome.  

ERIC Educational Resources Information Center

Discusses the case of a 25-year-old male with childhood disintegrative disorder (CDD), or Heller's syndrome, in terms of differential diagnosis, progression of the disorder, and suggestions for home- and school-based interventions. Documents the progressive deterioration of cognitive and social competencies. (Contains 23 references.) (GCP)

Bray, Melissa A.; Kehle, Thomas J.; Theodore, Lea A.; Broudy, Matthew S.

2002-01-01

204

Othello Syndrome Secondary to Ropinirole: A Case Study  

PubMed Central

This case report describes a forty-two-year-old man with no previous psychiatric history who developed delusional jealousy (Othello Syndrome) associated with ropinirole treatment. Ropinirole is a commonly used dopamine receptor agonist, which was being used to treat his Parkinson's disease, and his delusional symptoms resolved entirely with ropinirole dose reduction. PMID:22953148

Pal, Kakali; Smith, Abigail; Hayes, Joseph; Chakraborty, Apu

2012-01-01

205

Othello syndrome secondary to ropinirole: a case study.  

PubMed

This case report describes a forty-two-year-old man with no previous psychiatric history who developed delusional jealousy (Othello Syndrome) associated with ropinirole treatment. Ropinirole is a commonly used dopamine receptor agonist, which was being used to treat his Parkinson's disease, and his delusional symptoms resolved entirely with ropinirole dose reduction. PMID:22953148

Pal, Kakali; Smith, Abigail; Hayes, Joseph; Chakraborty, Apu

2012-01-01

206

Pancreatic Hamartoma and SAPHO Syndrome: a Case Report  

Microsoft Academic Search

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

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

207

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

PubMed

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

Patki, A H

1993-04-01

208

Savant Syndrome: Case Studies, Hypotheses, and Implications for Special Education.  

ERIC Educational Resources Information Center

The concept of savant syndrome, encompassing those individuals historically known as "idiot savants," is reviewed. Case studies demonstrating special abilities in the areas of calendar calculating, musical ability, artistic talent, memorization, mathematical skills, mechanical achievement, and fine sensory discrimination are discussed, as well as…

Cheatham, Susan Klug; And Others

1995-01-01

209

Hyper-IgE syndrome. Presentation of three cases.  

PubMed

Three cases of Hyper-IgE syndrome are herein described, corresponding to patients aged six, twelve and 4 years, who from infancy, had suffered a variety of recurrent pulmonary infections, staphylococcal cold abscesses and chronic dermatitis. IgE counts were superior to 2.000 u/ml and eosinophilia surpassed 0.6 x 10(9) cells/l in all three cases. Deficits in the mytogen and chemotaxis responses were also seen. These patients were treated with I.V. gammaglobulin, anti-biotherapy and ascorbic acid. The possible physiopathology of this syndrome and its association with different alterations to pulmonary immunity are discussed in this paper. Hyper-IgE Syndrome is characterized by recurrent dermal and pulmonary infections (pneumonia and abscesses), dominated by elevated IgE levels, and in 1974, this Syndrome was included within the "immunodeficiencies" group, and Hill and Quie described this as a process involving recurrent bacterial infections and eczemas accompanied by elevated IgE levels, together with a defect in the mobility of neutrophils. Previously, in 1966, Job described this Syndrome in fair-skinned, red-headed young girls, suffering from eczemas and recurrent cold abscesses of staphylococcal ethiology, found on the skin, in subcutaneous tissue cells and lymph nodes. Later, Dr. Buckley defined this Syndrome by an increase in serum IgE levels, chronic dermatitis and severe repetitive infections. This Syndrome today, is still an immunological mystery, defined by two clinically compatible criteria and an increase in IgE. Other analytical abnormalities, including neutrophilic mobility, the appearance of IgE antibodies anti-Candida or staphylococcus, are non-constant findings. PMID:9111874

de la Torre Morín, F; García Robaina, J C; Bonnet Moreno, C; Fonta, G L

1997-01-01

210

Concurrent insulinoma with mosaic Turner syndrome: A case report  

PubMed Central

Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified. PMID:25667631

WANG, SHAOYUN; YANG, LIJUAN; LI, JIE; MU, YIMING

2015-01-01

211

Risk factors of myelodysplastic syndromes: a case–control study  

Microsoft Academic Search

Little is known about the etiology of myelodysplastic syndromes (MDS). A hospital-based case–control study of 354 adult de novo MDS cases and 452 controls was conducted to investigate associations between lifestyle characteristics and MDS risk. The distribution by French–American–British (FAB) type was 67 (19%) refractory anemia (RA), 38 (11%) refractory anemia with ringed sideroblasts (RARS), 43 (12%) chronic myelomonocytic leukemia

S S Strom; Y Gu; S K Gruschkus; S A Pierce; E H Estey

2005-01-01

212

The impact of restless legs syndrome: a familial case study.  

PubMed

Restless legs syndrome (RLS) is a common neurological disorder characterized by an irresistible urge to move. RLS has a general population incidence of between 5% and 10% and a familial rate as high as 77%. This case study examines the pathophysiology, diagnosis, and treatment along with the presentation of RLS in two members of a family with near-identical onset and treatment. Cases of familial RLS may be best directed toward similar treatment regimens. PMID:24217148

Snider, Scott

2013-12-01

213

Contrasting case definitions for chronic fatigue syndrome, Myalgic Encephalomyelitis/chronic fatigue syndrome and myalgic encephalomyelitis.  

PubMed

This article uses data from patients recruited using the 1994 case definition of chronic fatigue syndrome (CFS) to contrast those meeting criteria for the Myalgic Encephalomyelitis/chronic fatigue syndrome (ME/CFS) Canadian case definition with those that did not meet these criteria. The study also contrasts those meeting criteria for Myalgic Encephalomyelitis (ME) based on criteria from Ramsay and other theorists with those that did not meet the ME criteria. The ME/CFS case definition criteria identified a subset of patients with more functional impairments and physical, mental, and cognitive problems than the subset not meeting these criteria. The ME subset had more functional impairments, and more severe physical and cognitive symptoms than the subset not meeting ME criteria. When applied to a population meeting the 1994 CFS case definition, both ME/CFS and ME criteria appear to select a more severe subset of patients. PMID:22158691

Jason, Leonard A; Brown, Abigail; Clyne, Erin; Bartgis, Lindsey; Evans, Meredyth; Brown, Molly

2012-09-01

214

Cerebro-oculo-nasal syndrome: 13 new Brazilian cases.  

PubMed

Cerebro-oculo-nasal syndrome (CONS) is characterized by structural anomalies of the central nervous system (encephalocele, ventricular dilatation, defects of corpus callosum, and even holoprosencephaly in one instance), by ocular alterations ranging from anophthalmia/microphthalmia to normal eyes, and by proboscis-like nares. Here, we report on 13 new cases with CONS, review 7 previously published cases, and evaluate the findings in all 20 patients. Despite marked variability among cases, the nasal configuration appears to be unique and diagnostic. Although one patient had a mutation in the PTCH gene, the cause of all other cases remains unknown to date. PMID:17985375

Guion-Almeida, Maria Leine; Zechi-Ceide, Roseli Maria; Richieri-Costa, Antonio

2007-12-15

215

The de Lange Syndrome: Report of Three Cases  

PubMed Central

Three cases of de Lange's syndrome are described. This condition is characterized by generally severe mental retardation, reduced stature, mild microcephaly, hypertrichosis, various anomalies of hands and feet, and a peculiar facies. The most outstanding features of the latter are the low forehead, profuse, generally confluent eyebrows, abundant long eyelashes, eyes that frequently slant downwards and outwards in antimongoloid fashion, pug nose with prominent anteverted nostrils, increased distance between nose and vermilion border of upper lip, slight reduction in size of chin, and often abnormally low-placed ears. The etiology of de Lange's syndrome is at present unknown. ImagesFig. 1Fig. 2Fig. 3 PMID:14201252

Gibson, Robert

1964-01-01

216

Psychiatric syndromes in pernicious anaemia--a case report.  

PubMed

Surveys of psychiatric population had previously shown a high incidence of patients with low serum vitamin B12. A variety of psychiatric syndromes have been described, ranging from mild disturbance in mood state like depression to maniacal excitement; psychotic conditions like paranoid states and schizophrenia; and cognitive dysfunctions such as memory defect, delirium and dementia. A case of a 67-year-old Chinese lady suffering from pernicious anaemia, but presenting with prominent paranoid delusions is reported. Treatment with cyanocobalamine and anti-psychotic medication led to prompt resolution of her psychotic experience. Subsequently she developed a transient depressive syndrome which also responded well to a short course of antidepressant. PMID:1598618

Ko, S M; Liu, T C

1992-02-01

217

Churg-Strauss syndrome: A case report  

PubMed Central

A fifty-year-old female presented with a one month history of progressive dyspnea, productive cough, pain of elbows and knees, and 40°C fever despite antibiotic treatment. She has been diagnosed of bronchial asthma over 25 years before admission and oral and depot glucocorticosteroids as a long-term therapy was applied. Recently, an attempt of inhaled corticosteroids and LABA treatment was introduced with no success. Four years before admission she also developed peripheral neuropathy. Physical examination revealed tachypnea, wheezes, rhonchi and wet cracles on auscultation, tachycardia, skin nodules, urticarial rash and necrotic bullae all over the body. Chest X-ray showed transient, patchy, nonsegmental areas of consolidation with predilection for lower zones with the area of consolidation in lower left zone. Obstruction was found on spirometry. Tachycardia on ECG and myocardial fluid on ECHO were also detected. Lab exams revealed elevated CRP, WBC, eosinophils, and IgE levels. ANA and ANCA antibodies were not found. Patient was diagnosed of Churg Strauss Syndrome and initial treatment of prednisone was introduced. After four days of treatment, temperature normalized, and dyspnea diminished. After one month of therapy skin lesions regressed. After 18 months of the treatment patient reports no signs, nor symptoms of the disease. Patient continues oral corticosteroid therapy. PMID:21147630

2010-01-01

218

A case of Gitelman syndrome with severe hyponatraemia and hypophosphataemia.  

PubMed

Gitelman syndrome (GS) is a renal tubular disorder of the thiazide-sensitive sodium chloride cotransporter, which is located in the distal tubule of the loop of Henle. We present a rare case of GS complicated by severe hyponatraemia and hypophosphataemia. A 17-year-old boy was admitted to our institution with fever and lethargy. The workup revealed typical features of GS, i.e. hypokalaemia, hypomagnesaemia and metabolic alkalosis. In this report, we discuss the differential diagnoses and rationale for accepting GS as the most likely diagnosis. This case was complicated by severe hyponatraemia (115 mmol/L) and hypophosphataemia (0.32 mmol/L). We concluded that the syndrome of inappropriate secretion of antidiuretic hormones could not be ruled out and that respiratory alkalosis was the most likely aetiology of hypophosphataemia. This case report also generates an interesting discussion on water and electrolyte metabolism. PMID:23338926

Ali, Absar; Masood, Qamar; Yaqub, Sonia; Kashif, Waqar

2013-01-01

219

Pregnancy in sick sinus syndrome with pacemaker - two cases.  

PubMed

Sick sinus syndrome is a generalized abnormality of cardiac impulse formation that may be caused by extrinsic causes or by intrinsic disease of the sinus node making it unable to perform pace making function. It can be manifested for the first time in pregnancy. First case was diagnosed as sick sinus syndrome at 8 weeks of gestation having Mobitz type I heart block (Wenckebach block), and needed temporary pacemaker during caesarean section. Second case was diagnosed at 24 weeks of gestation having complete heart block and needed permanent pacemaker at 38 weeks of gestation due to exaggeration of the symptoms. Both the cases were dealt successfully by caesarean section under general anesthesia in close collaboration with cardiologists and anesthesiologists. PMID:23715370

Parveen, T; Begum, F; Akhter, N; Sharmin, F

2013-04-01

220

Sirenomelia: The mermaid syndrome: Report of two cases.  

PubMed

Sirenomelia (mermaid syndrome) is a rare congenital fetal anomaly with characteristic feature of complete or partial fusion of lower limbs. Although, this syndrome is incompatible with life due to the association of several congenital visceral abnormalities; however, there are few reports of surviving infants. Our first case was a live born, normally delivered at term by a 27-year-old third gravida of lower socioeconomic status with history of tobacco use. Examination of the baby revealed caudal dysgenesis having fusion of lower limbs, single leg with 1 foot and 5 toes. There was no identifiable external genitalia and anus. The second case was a 34 week, 1.6 kg preterm infant of unidentified sex born to a 28-year-old primigravida mother with overt diabetes mellitus. Incidentally, both the infants died few hours after birth and we report these cases due to their rarity and term live birth. PMID:25810681

Samal, Sunil Kumar; Rathod, Setu

2015-01-01

221

Sirenomelia: The mermaid syndrome: Report of two cases  

PubMed Central

Sirenomelia (mermaid syndrome) is a rare congenital fetal anomaly with characteristic feature of complete or partial fusion of lower limbs. Although, this syndrome is incompatible with life due to the association of several congenital visceral abnormalities; however, there are few reports of surviving infants. Our first case was a live born, normally delivered at term by a 27-year-old third gravida of lower socioeconomic status with history of tobacco use. Examination of the baby revealed caudal dysgenesis having fusion of lower limbs, single leg with 1 foot and 5 toes. There was no identifiable external genitalia and anus. The second case was a 34 week, 1.6 kg preterm infant of unidentified sex born to a 28-year-old primigravida mother with overt diabetes mellitus. Incidentally, both the infants died few hours after birth and we report these cases due to their rarity and term live birth.

Samal, Sunil Kumar; Rathod, Setu

2015-01-01

222

A Severe Case of Median Arcuate Ligament Syndrome with Successful Angioplasty and Stenting  

PubMed Central

Median arcuate ligament syndrome (MAL) or celiac axis compression syndrome (CACS) is a rare etiology of chronic abdominal pain. Traditional treatment of this syndrome is surgery. We report a case of median arcuate ligament syndrome with a severe compression of the celiac trunk, which was successfully treated by angioplasty with stenting. PMID:23050191

Hongsakul, Keerati; Rookkapan, Sorracha; Sungsiri, Jitpreedee; Tubtawee, Teeravut

2012-01-01

223

A severe case of median arcuate ligament syndrome with successful angioplasty and stenting.  

PubMed

Median arcuate ligament syndrome (MAL) or celiac axis compression syndrome (CACS) is a rare etiology of chronic abdominal pain. Traditional treatment of this syndrome is surgery. We report a case of median arcuate ligament syndrome with a severe compression of the celiac trunk, which was successfully treated by angioplasty with stenting. PMID:23050191

Hongsakul, Keerati; Rookkapan, Sorracha; Sungsiri, Jitpreedee; Tubtawee, Teeravut

2012-01-01

224

Potocki-Lupski syndrome with teratologic dislocation of the hip: a case report.  

PubMed

Potocki-Lupski syndrome results from the duplication of chromosome 17 band p11.2. This is the first report of a case of Potocki-Lupski syndrome with teratologic dislocation of both hips. The diagnosis was made by chromosomal analysis. The association between Potocki-Lupski syndrome and musculoskeletal disorders may help elucidate the etiology and prognosis of the syndrome. PMID:22990438

Kuo, Chien-Chung; Chang, Chien-Chun; Hsu, Horng-Chaung; Lu, Tung-Wu; Tsai, Nien-Ying

2013-01-01

225

[Reflex sympathetic dystrophy secondary to piriformis syndrome: a case report].  

PubMed

Piriformis syndrome is a rare cause of hip and foot pain which may be due to sciatic nerve irritation because of anatomic abnormalities of sciatic nerve and piriformis muscle or herniated disc, facet syndrome, trochanteric bursit, sacroiliac joint dysfunction, endometriosis and other conditions where sciatic nerve is irritated. There has been no reflex sympathetic dystrophy (RSD) case presented due to piriformis syndrome before. A sixty-two-year-old female patient had right foot and hip pain (VNS: 8), redness and swelling in the foot since 15 days. Her history revealed long walks and travelling 3 weeks ago and sitting on the foot for a long time for a couple of days. Physical examination revealed painful hip movement, positive straight leg rise. Erythema and hyperalgesia was present in dorsum of the right foot. Right foot dorsiflexion was weak and hyperesthesia was found in right L4-5 dermatome. Medical treatment and ultrasound treatment to piriformis muscle was not effective. The patient was injected 40 mg triamcinolon and local anesthetic in right piriformis muscle under floroscopy by diagnosis of piriformis syndrome, neuropathic pain and RSD. Pain and hyperalgesia resolved and motor weakness was better. During follow-up right foot redness resolved and pain decreased (VNS: 1). In this case report, there was vascular, muscle and skeletal signs supporting RSD, which shows us the therapoetic effect of diagnostic piriformis injection. The patient history, physical examination and diagnostic tests were evaluated by a multidisciplinary team which contributed to the treatment. PMID:19562536

Akçali, Didem; Ta?, Ayça; Cizmeci, Pelin; Oktar, Suna; Zinnuro?lu, Murat; Arslan, Emre; Köseo?lu, Hüseyin; Babacan, Avni

2009-04-01

226

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

PubMed Central

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

Dahlgren, James; Wardenburg, Marla; Peckham, Trevor

2010-01-01

227

Gorlin and Goltz Syndrome: A Case Report with Surgical Review  

PubMed Central

ABSTRACT Gorlin and Goltz syndrome are a very complex syndrome and a multisystemic process that is characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falx cerebri. Along with these major features a great number minor features have also been described which involves numerous skeletical, dermatology related, neurological, ophthalmological and reproductive anomalies. It exhibits high penetrance and variable expressivity. Presented here is the case of Gorlin-Goltz in a 12 years old male patient which was diagnosed through its oral and maxillofacial manifestations. Treatment of odontogenic keratocyst was done by enucleation without primary suturing. Iodoform dressing was kept to enhance the healing and to reduce the recurrence of the lesion. It is important to provide the early diagnosis for detection of clinical and radiological manifestations in young patients and for provision of advice concerning preventive treatment like protection of the skin from the sunlight and genetic sensitivity testing so that possible complications associated with this syndrome can be prevented. How to cite this article: Bahadure RN, Jain ES, Badole GP. Gorlin and Goltz Syndrome: A Case Report with Surgical Review. Int J Clin Pediatr Dent 2013;6(2):104-108. PMID:25206202

Surendraji Jain, Eesha; P Badole, Gautam

2013-01-01

228

Gorlin and goltz syndrome: a case report with surgical review.  

PubMed

Gorlin and Goltz syndrome are a very complex syndrome and a multisystemic process that is characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falx cerebri. Along with these major features a great number minor features have also been described which involves numerous skeletical, dermatology related, neurological, ophthalmological and reproductive anomalies. It exhibits high penetrance and variable expressivity. Presented here is the case of Gorlin-Goltz in a 12 years old male patient which was diagnosed through its oral and maxillofacial manifestations. Treatment of odontogenic keratocyst was done by enucleation without primary suturing. Iodoform dressing was kept to enhance the healing and to reduce the recurrence of the lesion. It is important to provide the early diagnosis for detection of clinical and radiological manifestations in young patients and for provision of advice concerning preventive treatment like protection of the skin from the sunlight and genetic sensitivity testing so that possible complications associated with this syndrome can be prevented. How to cite this article: Bahadure RN, Jain ES, Badole GP. Gorlin and Goltz Syndrome: A Case Report with Surgical Review. Int J Clin Pediatr Dent 2013;6(2):104-108. PMID:25206202

Namdeoraoji Bahadure, Rakesh; Surendraji Jain, Eesha; P Badole, Gautam

2013-05-01

229

Propofol Infusion Syndrome or Not? A Case Report  

PubMed Central

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

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

2014-01-01

230

Syndromes from segmental vibration and nerve entrapment: observations on case definitions for carpal tunnel syndrome  

Microsoft Academic Search

Objectives  The purpose of this paper is to assess the overlap and stability of two different case definitions of carpal tunnel syndrome\\u000a CTS. The analysis considers the association between different case definitions and objective tests (sensory nerve conduction\\u000a velocities, SNCVs and vibrotactile perception thresholds, TTS), and the natural history of CTS, in the context of two vibration-exposed\\u000a cohorts.\\u000a \\u000a \\u000a \\u000a Methods  Clinical CTS cases

Martin Cherniack; Anthony J. Brammer; Ronnie Lundstrom; Tim F. Morse; Greg Neely; Tohr Nilsson; Donald Peterson; Esko Toppila; Nicholas Warren; Ulysses Diva; Marc Croteau; Jeffrey Dussetschleger

2008-01-01

231

Aqueous misdirection syndrome: an interesting case presentation  

PubMed Central

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

Moinul, Prima; Hutnik, Cindy ML

2015-01-01

232

Spontaneous resolution of quadrilateral space syndrome: a case report.  

PubMed

A case of quadrilateral space syndrome is presented, where a large near-circumferential glenoid labrum tear led to a paralabral cyst that dissected into the quadrilateral space and caused a compressive neuropathy of the axillary nerve. This led to a 6-mo history of left shoulder pain, parasthesias, marked weakness to abduction, and marked denervation in both the deltoid and teres minor on electro-diagnostics. This is a presentation of interest as it is the only case report in the literature, to the authors' knowledge, where spontaneous resolution of entrapment occurred. This normally requires intervention for definitive management. It resolved through nonsurgical management with pregabalin, oxycodon, and naproxen medications, leading to good functional return, as well as pain and presumed muscle edema dissipation, while awaiting interventional consultation. It also illustrates that quadrilateral space syndrome is a difficult clinical diagnosis owing to the nonspecific symptom presentation, as well as weakness. PMID:25357147

Gregory, Thomas; Sangha, Harpreet; Bleakney, Robert

2015-01-01

233

A Case of Femoral Fracture in Klippel Trenaunay Syndrome  

PubMed Central

We present a case of Klippel Trenaunay syndrome (KTS) who presented with severe bilateral knee osteoarthritis (OA). Preoperative planning was commenced for a total knee replacement (TKR). Whilst on the waiting list the patient suffered a fall and sustained a complete femoral diaphysis fracture. Conservative management in the form of skin traction was initially chosen as significant extra- and intramedullary vascular malformations posed an increased risk of perioperative bleeding. This failed to progress to union, and so open reduction and internal fixation was performed. This subsequently resulted in on-going delayed union, which was subsequently managed with low intensity pulsed ultrasound (LIPUS, otherwise known as Exogen (Bioventus. exogen. Secondary exogen, 2012)). There are only two previous documented cases of femoral fracture in KTS. This is the first report of a patient with this rare syndrome receiving this treatment. We discuss the management of fracture in this challenging group of patients. PMID:25478269

Nahas, Sam; Wong, Fabian; Back, Diane

2014-01-01

234

Historical misrepresentation in science: The case of fetal alcohol syndrome  

Microsoft Academic Search

The history of the fetal alcohol syndrome (FAS) provides a microcosm in which to explore the larger ramifications of historical\\u000a citations in biomedical publications. Though some historical references such as Biblical writings may hint at a rudimentary\\u000a understanding of the relationship between maternal drinking and fetal development, no definitive case can be made for an understanding\\u000a of FAS dating back

Sam N. Pennington; Ivan A. Shibley

1998-01-01

235

Baboon syndrome induced by mercury - first case report in China.  

PubMed

A case of mercury-induced baboon syndrome was reported. A 31-year-old woman presented with itching papules and vesicles in the right axilla, which extended to the left axilla, arms, fossa poplitea, buttocks, and groin. A mercury thermometer was broken 2 days before exanthema. Patch testing to ammoniated mercury, mercury, mercuric chloride, and mercurochrome were positive. Blood and urine mercury level was marginally normal, yet showed a descending trend over time. PMID:17577379

Wen, Liping; Yin, Jia; Ma, Dong-Lai; Lanier, Bob

2007-06-01

236

Post-surgical sacroiliac syndrome: a case study  

PubMed Central

Sacroiliac syndrome is characterized by buttock and lower limb pain that is associated with decreased mobility and tenderness of the sacroiliac joints. It can occur concomitantly with disorders of the lumbar spine and may go unrecognized until these other conditions are successfully treated. It may sometimes be associated with post-surgical immobilization of the spine and pelvis. A case is presented illustrating successful treatment by chiropractic manipulation. ImagesFigure 2Figure 3

Diakow, Peter R.P.; Cassidy, J. David; DeKorompay, Victor L.

1983-01-01

237

A case of Hughes–Stovin syndrome associated with hyperhomocysteinemia  

Microsoft Academic Search

We report a case of Hughes–Stovin syndrome (HSS) associated with hyperhomocysteinemia. A 24-year-old man who has no clinical\\u000a features suggestive of Behcet’s disease was admitted for hemoptysis and dyspnea. Radiological and laboratory evaluation revealed\\u000a multifocal pulmonary artery aneurysms involving bilateral segmental pulmonary artery, thrombi in right atrium and ventricle,\\u000a and hyperhomocysteinemia. Accordingly, HSS associated with hyperhomocysteinemia was diagnosed, and the

Hyun-Ok Kim; Ho Cheol Kim; Yong-Geun Jeong; Jae Hee Kim; Dae-Hong Jeon; Kyoung-Nyeo Jeon; Sang-Il Lee

2010-01-01

238

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

PubMed

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

Tolan, R W

1993-07-01

239

Atrioventricular septal defect in a case of Shwachman-Diamond syndrome.  

PubMed

Shwachman-Diamond syndrome is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems, including bone, pancreas, and, to a lesser extent, the heart. Myocardial fibrosis, necrosis, and a case of dilated cardiomyopathy have, so far, been described. We report the first case of atrioventricular septal defect in a patient with Shwachman-Diamond syndrome. PMID:23803361

Le Gloan, Laurianne; Blin, Nicolas; Langlard, Jean-Marc

2014-06-01

240

Sciatica caused by piriformis muscle syndrome: report of two cases.  

PubMed

The diagnosis of piriformis muscle syndrome, an unusual cause of sciatica, is difficult. However, with the advancement of imaging techniques, it has become clear that the condition is not just clinical speculation, but is a definite entity. We report on two cases with piriformis muscle syndrome, diagnosed on the basis of: a history of sciatica; physical findings, such as a tender point at the sciatic notch and around the piriformis muscle by palpation of the gluteal region, and by a digital pelvic examination; and computed tomography (CT) to demonstrate hypertrophy of the piriformis muscle. In both cases, a tenotomy of the piriformis muscle at the greater trochanter relieved entrapment of the sciatic nerve and gave satisfactory results. Since local tenderness at the piriformis muscle is the most reliable physical finding, a pelvic examination is recommended in the evaluation of suspected cases of piriformis muscle syndrome. CT is helpful in showing hypertrophy of the piriformis muscle. Detailed history taking, a careful physical examination, and versatile use of CT or magnetic resonance imaging can lead to an early, accurate diagnosis and proper treatment. PMID:1358356

Chen, W S; Wan, Y L

1992-06-01

241

Familial Multiple Basal Cell Carcinoma (Gorlin's Syndrome): A Case Report of a Father and Son  

PubMed Central

Gorlin syndrome is a rare familial disorder characterized by numerous basal cell carcinomas along with facial and skeletal findings. Here, we report a father and son case, presented with features of Gorlin syndrome. PMID:24249904

Nikam, Balkrishna; Kshirsagar, Ashok; Shivhare, Pratik; Garg, Amitoj

2013-01-01

242

Reticular erythematous mucinosis syndrome. Report of two cases.  

PubMed

Two female patients had eruptions with the morphologic and histologic features of reticular erythematous mucinosis syndrome. However, both cases had features that differed from previous descriptions. In one case the eruption developed three to four weeks after a single erythemogenic sun exposure and faded after two to three weeks. The rash could be reproduced by exposure to ultraviolet B (UVB) or UVC radiation. In the other patient, the eruption involved the arms and face and spared the trunk, which is a more characteristic site of involvement; it was associated with a history of exacerbation following sun exposure, but the rash could not be reproduced on phototesting. PMID:507890

Morison, W L; Shea, C R; Parrish, J A

1979-11-01

243

Focal conduction block in a case of tarsal tunnel syndrome.  

PubMed

We report a case of tarsal tunnel syndrome (TTS) with focal conduction block across the tarsal tunnel (TT). A 46-year-old woman had pain in the left foot, sensory loss on the plantar surface, and positive Tinel sign over the TT. TTS was confirmed by magnetic resonance imaging (MRI) scan and surgery. Motor nerve conduction studies showed focal conduction block across the TT. Conduction block has rarely been reported in TTS. In this case, conduction block provides evidence for focal demyelination as the primary pathological process in TTS. PMID:20665513

Almeida, Diogo F; Scremin, Luciano; Zúniga, Sérgio F; Oh, Shin J

2010-09-01

244

[Multiple evanescent white-dot syndrome--case report].  

PubMed

The aim of the work is to present a case report of multiple evanescent white-dot syndrome in the left eye of 34 years old female. It's a rare disease entity which runs as a idiopathic inflammation of retina and choroid. Additional investigations which are performed in the clinic such as fluorescein angiography, indocyanine green angiography validated a primary diagnosis in this case. Intravenous infusion of methylprednisolone was administered with oral steroid continuation of therapy during four weeks. A quick visual improvement to 1.0 in the left eye was obtained with removalof characteristic for MEWDS alterations in additional investigations. PMID:23461159

Figurska, Malgorzata; Stachowska, Urszula; Kozera, Milena

2012-01-01

245

Anterior Spinal Artery Syndrome in a Girl With Down Syndrome: Case Report and Literature Review  

PubMed Central

Background/Objective: Anterior spinal artery syndrome is an extremely rare cause of acute ischemic cord infarction in children. It is caused by hypoperfusion of the anterior spinal artery, leading to ischemia in the anterior two thirds of the spinal cord. The presentation is usually with an acute and painful myelopathy with impaired bladder and bowel control. Pain and temperature sensation below the lesion are lost, whereas vibration and position sense is intact because of the preservation of the posterior columns. Methods: Case report. Results: A 16-year-old girl with Down syndrome presented with urinary retention and acute complete flaccid paralysis of the legs with absent deep tendon and abdominal reflexes. Magnetic resonance imaging showed a signal abnormality in the anterior half of the thoracic cord from T5 to T12, consistent with anterior spinal artery infarction. Conclusions: Pediatricians should consider anterior spinal artery syndrome in the child who presents with acute, painful myelopathy. We summarize the etiology, neurological findings and outcomes of 19 children found in the literature with anterior spinal artery syndrome. PMID:19810637

Sohal, Aman Singh; Sundaram, Manu; Mallewa, Mac; Tawil, Mohamed; Kneen, Rachel

2009-01-01

246

Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.  

PubMed

A Sicilian girl whose parents were first cousins had a severe tetramelic limb deficiency (amelia of lower limbs, peromelia of upper limbs) and other defects including cleft lip and palate, facial anomalies, athelia, low umbilicus, bladder exstrophy, no external genitalia, and anteriorly displaced anus. This probably represents a particularly severe case of Al Awadi/Raas-Rothschild syndrome (limb/pelvis-hypoplasia/aplasia syndrome, LPHAS), but the possibility of a new autosomal recessive facio-skeleto-genital syndrome cannot be excluded. PMID:7625440

Mollica, F; Mazzone, D; Cimino, G; Opitz, J M

1995-03-27

247

Nephrotic syndrome in hand, foot and mouth disease caused by coxsackievirus A16: a case report.  

PubMed

Some viruses, including certain members of the enterovirus genus, have been reported to cause nephrotic syndrome. However, no case of coxsackievirus A16 (CVA16)-related nephrotic syndrome has been reported so far. We describe a case of CVA16-related hand, foot and mouth disease presenting with nephrotic syndrome in a 3-year-old boy. This is the first report of CVA16-related nephrotic syndrome. PMID:25124453

Zhou, Hong-Tao; Wang, Bing; Che, Xiao-Yan

2014-11-01

248

Trigeminal neuralgia in a patient with marfan syndrome: case report.  

PubMed

Marfan syndrome can demonstrate tortuous and elongated intracranial arteries. However, these arteries rarely cause neurovascular compression resulting in hemifacial spasm or trigeminal neuralgia. Theauthors report a 33-year-old woman who was diagnosed as Marfan syndrome, suffered from trigeminalneuralgia. Magnetic resonance (MR) angiography showed tortuous and elongated left vertebral artery (VA). The coronal section of three dimensional (3D) MR cisternography with contrast enhancement showed that the left trigeminal nerve was compressed from underneath by the tortuous and elongated left VA. After successful surgery of microvascular decompression, the patient's symptom resolved and no recurrence was encountered. Neurosurgeons should not only be aware of hemifacial spasm but also of trigeminal neuralgia caused by elongated vessels in a patient with Marfan syndrome, although it is an extremely rare condition. In addition, offending vessel is not atherosclerotic in younger patients unlike usual cases of trigeminal neuralgia. Thus, microvascular decompression can be easier than usual cases. Care should be taken to prevent arterial dissection during transposition by using some technical tips. PMID:24390183

Sakakura, Kazuki; Akutsu, Hiroyoshi; Yamamoto, Tetsuya; Masuda, Yosuke; Ishikawa, Eiichi; Matsumura, Akira

2015-01-15

249

Bartter syndrome in Costa Rica: a description of 20 cases  

Microsoft Academic Search

.   Bartter syndrome involves an overlapping set of closely related renal tubular disorders which can be subdivided into at least\\u000a three clinical phenotypes: (1) classic Bartter syndrome (2) Gitelman syndrome, and (3) a neonatal variant of Bartter syndrome.\\u000a In contrast to classic Bartter syndrome and Gitelman syndrome, the neonatal variant of Bartter syndrome has both the features\\u000a of renal tubular

Gilbert Madrigal; Pablo Saborio; Fernando Mora; Guillermo Rincon; Lisa M. Guay-Woodford

1997-01-01

250

Isotretinoin-associated Sweetżs syndrome: a case report.  

PubMed

ObjectiveSweetżs syndrome (SS) is characterized by various clinical symptoms, physical features, and pathological findings. Although cases of SS are very rare, there has been an increase in the incidence of drug-induced SS. Till date, there have been only few reported cases of isotretinoin-induced SS.Case summaryIn this report, we describe the case of a 19-year-old girl who developed SS after systemic treatment with oral isotretinoin for nodulocystic acne.ConclusionsThe findings of this report emphasize the importance of evaluating isotretinoin as a possible, though uncommon, cause of SS and replacing it with another treatment if its involvement is suspected. PMID:25324016

Moghimi, Jamileh; Pahlevan, Daryiush; Azizzadeh, Maryam; Hamidi, Hamid; Pourazizi, Mohsen

2014-10-17

251

A case of Liddle's syndrome; unusual presentation with hypertensive encephalopathy.  

PubMed

Liddle's syndrome is a rare cause of secondary hypertension. Identification of this disorder is important because treatment differs from other forms of hypertension. We report an interesting case of a 35-year-old lady, a known diabetic and hypertensive patient, who presented with features of hypertensive encephalopathy. The family history was unremarkable. Past treatment with various combinations of antihypertensive medications including spironolactone, all at high doses, failed to control her blood pressure. Upon evaluation, the patient had hypokalemic alkalosis, low 24-h urine potassium and suppressed plasma renin activity. Although these findings were similar to hyperaldosteronism, plasma aldosterone was lower than the normal range. Blood pressure decreased markedly after administration of amiloride. Along with hyporeninemic hypo-aldosteronism, the non-responsiveness to spironolactone and good response to amiloride established the diagnosis of Liddle's syndrome. PMID:24969204

Kota, Sunil Kumar; Kota, Siva Krishna; Panda, Sandip; Modi, Kirtikumar D

2014-07-01

252

Multiple, multifocal odontogenic keratocysts in non-syndrome patient: a case-report.  

PubMed

Occurrence of multiple odontogenic keratocyst involving the jaws is rare. When multiple, it is usually associated with a syndrome. Occurrence of multiple odontogenic keratocyst without syndromic association is extremely rare. Gorlin-Goltz syndrome which is also known as Nevoid Basal Cell Carcinoma Syndrome is a rare autosomal dominant disorder. Multiple Odontogenic Keratocysts (OKCs) are principle features of nevoid basal cell carcinoma syndrome (NBCCS; Gorlin-Goltz syndrome). However, a case of multiple odontogenic keratocysts unassociated with any syndrome is reported here so as to add to the growing number of such cases in the literature. The possibility of this case being a partial expression of the Gorlin-Goltz syndrome is discussed. PMID:24984621

Hammannavar, Reshma; Holikatti, Kiran; Bassappa, Sharan; Shinde, Nagesh; Reddy, Manjunath; Chidambaram, Y S

2014-06-01

253

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

PubMed Central

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

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

2013-01-01

254

A Challenging Case of an Ectopic Cushing Syndrome  

PubMed Central

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

Menezes Nunes, Joana; Camőes, Isabel; Maciel, Joăo; Cabral Bastos, Pedro; Souto de Moura, Conceiçăo; Bettencourt, Paulo

2014-01-01

255

Posterior reversible encephalopathy syndrome in a child with steroid-resistant nephrotic syndrome: a case report and review of literature  

PubMed Central

Posterior reversible encephalopathy syndrome (PRES) is a rare and serious syndrome of central nervous system that can develop in both adults and children. It is characterized by acute onset of headache, confusion, seizures or focal neurological deficits along with radiological findings of white matter abnormalities in the parietal and occipital lobes. In the past ten years, this syndrome has been described mainly in adults, rare in children. Here, we report a case of PRES presenting in a 12-year-old girl with steroid-resistant nephrotic syndrome. Her neurological symptom was rapidly recovered after control of hypertension without discontinuation of cyclosporine A. PMID:25120830

Zhang, Yu; Zhou, Jianhua; Chen, Yu

2014-01-01

256

In vivo confocal microscopy in goldenhar syndrome: a case report  

PubMed Central

Background Goldenhar Syndrome is characterized by malformations of multiple anatomical districts. Between these, bulbar dermoids are common and represent a significant clinical problem as they can affect both ocular function and aesthetic comfort. Histologic characterization of dermoids has been extensively performed; however, no reports exist describing in vivo confocal microscopy (IVCM) of these lesions. We aimed to (i) describe the in vivo confocal morphology of limbal dermoids in Goldenhar syndrome and (ii) compare these findings with standard light microscopy. Case presentation A 15-year-old Caucasian female affected by Goldenhar Syndrome showed a left, infero-temporal, limbal neoformation, with extension to the left orbital region. Prior to surgical removal, IVCM was performed with the Heidelberg Retina Tomograph II, Cornea Module, using the “section” modality. The IVCM sections showed structures resembling corneal epithelium and vascular structures. Surgical removal of the lesion was decided as it caused poor eyelid closure. After surgical removal, sectioning and standard optical microscopy were performed. The comparison between IVCM imaging and standard microscopy sections were highly correlated in the detection of the pilar and vascular structures. Conclusions This study showed that IVCM may be a useful technique to study limbal dermoids, given its ability to detect typical microscopic features and its comparability to optical microscopy, which is the current standard. PMID:24131730

2013-01-01

257

Capsular block syndrome: a case report and literature review  

PubMed Central

Purpose To report the case of a patient who developed late capsular block syndrome and to review the current literature regarding this complication of phacoemulsification procedures. Methods The literature was reviewed to summarize the diagnosis, classification, use of diagnostic aids, and the current treatments for this complication. Results A 69-year-old patient complained of decreased visual acuity 11 months after undergoing phacoemulsification. She was found to have a secondary myopization. Anterior segment ultrabiomicroscopy confirmed the diagnosis of capsular block syndrome. The patient underwent neodymium-doped yttrium aluminum garnet (Nd:YAG) laser posterior capsulotomy, which resulted in complete resolution of her symptoms. Conclusion Capsular block syndrome is a fairly rare complication of phacoemulsification procedures that, depending primarily on the timing of its occurrence following surgery, can develop into one of the three following possible clinical scenarios: intraoperatory, early postoperatory, and late postoperatory. In this patient, Nd:YAG laser capsulotomy was shown to be a safe and effective treatment option for this type of complication. PMID:25152612

Vélez, Mauricio; Velásquez, Luis F; Rojas, Sebastián; Montoya, Laura; Zuluaga, Katherine; Balparda, Kepa

2014-01-01

258

Marfan syndrome and symptomatic sacral cyst: Report of two cases  

PubMed Central

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

Arnold, Paul M.; Teuber, Jan

2013-01-01

259

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

PubMed

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

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

2010-01-01

260

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

PubMed Central

Background Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described. Case presentation We describe the case of a 27-year old female from an English (Caucasian) kindred. She had been initially referred for hypertriglyceridemia, but demonstrated other features suggestive of AS, including blindness, obesity, type 2 diabetes, renal dysfunction, and hypertension. DNA analysis revealed that she is a compound heterozygote with two novel mutations in the ALMS1 gene – H3882Y and V424I. Examination of her family revealed that her phenotypically unaffected mother and younger sister also had heterozygous mutations in the ALMS1 gene. In addition to presenting these novel molecular findings for AS, we review the clinical and genetic features of AS in the context of our case. Conclusion Two novel mutations in the ALMS1 gene causative for AS have been reported here, thereby increasing the number of reported mutations to 81 and providing a wider basis for mutational screening among affected individuals. PMID:18154657

Joy, Tisha; Cao, Henian; Black, Graeme; Malik, Rayaz; Charlton-Menys, Valentine; Hegele, Robert A; Durrington, Paul N

2007-01-01

261

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

PubMed Central

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

Tasman, A. J.

2015-01-01

262

Adult-onset woakes' syndrome: report of a rare case.  

PubMed

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

Schoenenberger, U; Tasman, A J

2015-01-01

263

A Case of Overlapping Choriocapillaritis Syndromes: Multimodal Imaging Appraisal  

PubMed Central

Purpose: To present a patient with overlapping choriocapillaritis syndromes who first presented as a typical case of multiple evanescent white dot syndrome (MEWDS) and later with characteristic findings compatible with multifocal choroiditis (MFC). Case Report: A 40-year-old myopic woman presented with a paracentral scotoma OS. Fundus examination revealed pale discolored areas around the optic disc corresponding to faintly hyperfluorescent areas on fluorescein angiography (FA). On indocyanine green angiography (ICGA) there was extensive peripapillary hypofluorescence and confluent hypofluorescent dots superiorly. According to the clinical picture, a diagnosis of MEWDS was made. In 4 weeks, the visual field reverted to normal together with almost complete regression of hypofluorescence on ICGA. However, 4 months later fundus examination revealed some scars, a finding not typical for MEWDS. Besides, she developed another scotoma 12 months later accompanied by photopsia and the fundus illustrated more numerous scars than one year earlier. ICGA showed hypofluorescent areas corresponding to the scotoma delineated by visual field testing. The pattern of this recurrence clearly corresponded to MFC. Conclusion: This case illustrates an overlap between two entities, MEWDS and MFC in two sequential episodes. FA and fundus autofluorescence accounted for the lesions and optical coherence tomography showed damage to the photoreceptor outer segments, but only ICGA correlated well with functional evolution. PMID:22737390

Kuznetcova, Tatiana; Jeannin, Bruno; Herbort, Carl P

2012-01-01

264

Non-syndrome patient with bilateral supernumerary teeth: Case report and 9-year follow-up  

PubMed Central

The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and Tricho-rhino-phalangeal syndrome. Only a few examples of nonsyndromic multiple supernumerary teeth have been reported in literature. In this report, we present the unusual case and 9-year follow up of a non-syndrome female patient with bilateral supernumerary teeth that occurred with an interval of several years. PMID:23408107

Akgun, Ozlem Marti; Sabuncuoglu, Fidan; Altug, Ayberk; Altun, Ceyhan

2013-01-01

265

Burning-Feet Syndrome: Case Due to Malabsorption and Responding to Riboflavine  

PubMed Central

A woman with the burning-feet syndrome was found on investigation to have malabsorption. The syndrome responded rapidly to intramuscular injections of 6 mg. of riboflavine daily. It is suggested that deficiency of this substance, due to malabsorption and aggravated by a defective diet and repeated pregnancies, was responsible for the syndrome in this case. PMID:5440597

Lai, C. S.; Ransome, G. A.

1970-01-01

266

Ophthalmic complications including retinal detachment in hyperimmunoglobulinemia E (Job's) syndrome: Case report and review of literature  

PubMed Central

Hyperimmunoglobulinemia E (Job's) syndrome is characterized by markedly increased levels of immunoglobulin E, recurrent cutaneous and systemic pyogenic infections, atopic dermatitis, and peripheral eosinophilia. Although ocular involvement in Job's syndrome is rare, there are reports of keratoconus, staphylococcal chalazia with blepharitis, and Candida endophthalmitis by various authors. We present the first case report of retinal detachment with complicated cataract in Job's syndrome. PMID:19700878

Arora, Vipul; Kim, Usha R; Khazei, Hadi M; Kusagur, Shivayogi

2009-01-01

267

A case of crush syndrome induced by the kneeling seiza position.  

PubMed

Crush syndrome results in a characteristic syndrome of rhabdomyolysis with myoglobinuric acute renal failure. The most commonly described crush injury is that which affects victims of natural disasters such as earthquakes. Here, we report a rare case of crush syndrome that was induced by the kneeling seiza position. PMID:25504202

Tsuji, Tomoatsu; Inoue, Shigeaki; Yamagiwa, Takeshi; Morita, Seiji; Inokuchi, Sadaki

2014-01-01

268

Depression and Dementia in Aging Adults with Down Syndrome: A Case Study Approach.  

ERIC Educational Resources Information Center

A case study of three adults (ages 46-47) with Down syndrome investigated the patterns of symptoms associated with depression and dementia. Characteristics that distinguish between dementia and depression in adults with Down syndrome are described. Periodic comprehensive assessment of adults with Down syndrome to detect functioning changes is…

Sung, Hyunsook; And Others

1997-01-01

269

Painful ophthalmoplegia: a case of Tolosa-Hunt syndrome.  

PubMed

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

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

2014-11-01

270

Electroconvulsive therapy for lycanthropy and Cotard syndrome: a case report.  

PubMed

We present a case of psychotic depression presenting with lycanthropy (being converted to a pig) and Cotard syndrome simultaneously and treated with electroconvulsive therapy. A 37-year-old female patient developed psychotic depression after a stressor (a possibility of having a malignancy). As her depression worsened, she developed delusional belief of self being metamorphosed to a pig and her children also being metamorphosed into pig. In addition, she had the delusional belief that her own body and body of her children was rotting away. She was treated with electroconvulsive therapy along with venlafaxine and olanzapine, with which she improved completely. PMID:20562636

Grover, Sandeep; Shah, Ruchita; Ghosh, Abhishek

2010-12-01

271

Congenital Bilateral Perislyvian Syndrome: Case Report and Review of Literature  

PubMed Central

Congenital bilateral Perislyvian syndrome (CBPS) is a rare structural malformation of the brain in which the underlying anomaly is polymicrogyria. Polymicrogyria is a malformation of cortical development that is characterized by abnormal arrangement and excessive folding of cerebral cortical cell layers, often with fusion of the gyral surfaces, which can be focal or regional or involve the whole cortical mantle. Clinical manifestations depend upon the anatomical region of the brain involved. We report a case of 7-year-old male child with magnetic resonance imaging findings of CBPS. PMID:24404535

Gowda, Anand K.; Mane, Ranoji Shivaji; Kumar, Ashok

2013-01-01

272

Gorlin-Goltz syndrome and stroke: a case report.  

PubMed

We report on the case of a 32-years old male patient who was previously diagnosed with Gorlin-Goltz syndrome. The patient presented with sudden-onset right-sided hemiparesis, supranuclear facioparesis, and motor aphasia. He was treated with thrombolytic therapy, which successfully alleviated the symptoms. Subsequent radiologic work-up revealed anomalies in the vertebral arteries, a bifid rib, an ischemic lesion in the supply area of the left middle cerebral artery, and falx calcifications. Laboratory tests showed a 4G/4G polymorphism of the plasminogen activator inhibitor 1 (PAI-1) gene whose correlation with stroke is discussed in the article. PMID:25230063

Budin?evi?, Hrvoje; Star?evi?, Katarina; Bielen, Ivan; Demarin, Vida

2014-01-01

273

Antiarrhythmic induced electrical storm in Brugada syndrome: a case report.  

PubMed

Brugada syndrome (BS) may be "unmasked" by several pharmacological and/or physiological agents in an otherwise normal electrocardiogram. Once diagnosed the possibility of persistent ventricular tachycardia/fibrillation exists. Although this is treated with various antiarrhythmic agents, there remains a cohort of patients who fail to respond to conventional antiarrhythmic therapy therefore, amplifying the electrical storm. We report a case of a BS diagnosed via procainamide challenge, the resultant near fatal electrical storm aggravated by amiodarone and the eventual resolution with isoproterenol. PMID:17617073

Joshi, Sandeep; Raiszadeh, Farbod; Pierce, Walter; Steinberg, Jonathan S

2007-07-01

274

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

PubMed Central

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

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

2012-01-01

275

A case study on the successful management of Cotard's syndrome in pregnancy: Case Reports.  

PubMed

Cotard's Syndrome is rare and no cases have been reported in pregnancy. We describe a case of a woman in the third trimester who attempted suicide by jumping out of a window, sustaining multiple fractures. Delivery of her baby by Caesarean section and orthopaedic intervention was necessary before electroconvulsive therapy (ECT) could be administered, resulting in a successful outcome for both mother and child. (Int J Psych Clin Pract 1999; 3: 293-295). PMID:24921235

Howe, G; Srinivasan, M

1999-01-01

276

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

PubMed

The yellow nail syndrome is a clinical syndrome without specific biological parameters. It is characterized by the following threesome of symptoms: nail abnormalities, primary lymphedema, and pleuropulmonary manifestations. In most cases lymphography shows abnormalities of the lymphatic vessels and spirometry shows a restrictive defect and rarely obstructive disorders. Pathogenesis of this syndrome is still unknown. It is, however, remarkable that the yellow nail syndrome may occur in association with other diseases, the most frequent of which are cancer affections and immune disorders. We report two cases of the yellow nail syndrome which were associated with cancer (neoplasm of the larynx and breast). PMID:7800987

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

1994-01-01

277

[A case of nephrotic syndrome achieving remission with cyclosporine monotherapy].  

PubMed

The case was a female in her early 80's. Due to abdominal bloating and lower limb edema, she visited a nearby doctor, was diagnosed to have nephrotic syndrome, and then was referred to our department. Upon initial consultation, TP of 4.1 g/dl, Alb of 1.7 g/dl, UN of 73 mg/dl, and Cr of 1.43 mg/dl, along with pleural effusion were observed by chest X-ray. A renal biopsy was not performed because permission could not be obtained. Despite the fact that management of the edema was performed using diuretic agents and albumin preparations, a reduced renal function and deterioration of the fluid retention were gradually observed. She originally displayed lower back pain and digestive symptoms and, therefore, cyclosporine monotherapy was initiated in order to address concerns of side effects such as osteoporosis and peptic ulcer due to adrenocortical steroid drugs (hereinafter abbreviated as steroid). Subsequently, hemodialysis was temporarily required but reduced urine protein and an improved renal function were gradually observed and she eventually achieved a complete remission. The possibility of a spontaneous remission of membranous nephropathy, etc. was considered, but a relapse occurred when the amount of cyclosporine was reduced. Thereafter, a complete remission was obtained with an increased dosage. As a result, the effectiveness of cyclosporine was thus confirmed. In treating nephrotic syndrome, steroid therapy is commonly performed and it is common for cyclosporine to be limited to steroid-resistant cases and/or steroid-dependent cases. However, it is believed that monotherapy could also be an option in cases in which the use of steroids is difficult, such as in cases of elderly patients. PMID:21116092

Nagatoya, Katsuyuki

2010-01-01

278

Reversible Pisa syndrome associated to subdural haematoma: case-report  

PubMed Central

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

2014-01-01

279

Cushing syndrome and the anesthesiologist, two case reports.  

PubMed

Cushing's syndrome (CS) is associated with reduced life quality and increased mortality, mostly due to cardiovascular disease. The features of this syndrome are central obesity, moon facies, facial plethora, supraclavicular fat pads, buffalo hump, and purple striae. Other complications include hyperglycemia, hypertension, proximal muscle weakness, skin thinning, menstrual irregularities, amenorrhea and osteopenia. These make perioperative and anesthetic management difficult and present a challenge to the operating team, especially the anaesthesiologist. In this paper, we present two such cases of CS, which were treated with adrenalectomy. We aim to highlight the special care and precautions that need to be taken while administering anesthesia, and in the post operatory period. Anaesthesia induction in the two cases of CS was done prior to the adrenalectomy procedure and special pre and post operative care was taken. Continuous intra operative monitoring of vitals and checking for the stability of the haemodynamics was performed. With adequate care and using advanced anesthetic techniques, the patients showed uneventful post operative recovery. Though the anesthetic management of patients with CS is difficult, desired results can be achieved with continuous monitoring and special precautions. PMID:21897900

Domi, Rudin; Sula, Hektor

2011-07-01

280

Sturge-Weber Syndrome: A Report of 14 Cases  

PubMed Central

Sturge-Weber-Krabe syndrome (SWS), also known as encephalotrigeminalangiomatosis and named the forthfacomatosis, recall the names of the authors who first describedit in its basic clinical, radiological andanatomopathological aspects. We report here 14 cases of Sturge-Weber disease. In 6 of these, despite what had been previously described in literature, an extension of the angioma has been noted in other parts of the body. The study of these subjects stresses not only the need for a pharmacological/neuropsychomotor intervention, but alsothe need of a psychotherapeutic approach, for the emotional and affective implications thatcould derive from this syndrome. The reported cases are similar to those presented in literature for their main features. In particular, two elements are interesting: i) the exceptional diffusion of the red nevousto the whole hemicorpo; and ii) the evaluation of the way the patients live the disease, which has not beenpreviously considered in literature. We can conclude that SWS is a multisystem disorder that requires the neurologist to be aware of the possible endocrine, psychiatric, ophthalmological, and other medical issues that can arise and impact on the neurological status of the patients. PMID:25478131

Parisi, Lucia; La Grutta, Sabina; Lo Baido, Rosa; Epifanio, Maria Stella; Esposito, Maria; Carotenuto, Marco; Roccella, Michele

2013-01-01

281

A rare case of Goldenhar syndrome with radial aplasia.  

PubMed

Goldenhar syndrome (GS) is a well-recognised condition characterised by variable degree of uni- or bilateral involvement of craniofacial structures involving first and second branchial arches manifesting ocular and auricular anomalies and also vertebral defect. This syndrome presents at birth and its exact aetiology is still unknown. The affections of the neural crest cells may have some role in the multiple malformations of the GS. We present a teenaged female case who attended the Orthopaedic Outpatient Department to receive handicapped certificate in Bankura Sammilani Medical College and Hospital. She had multiple skeletal abnormalities, which included hemifacial microsomia, vertebral malformations in the form of scoliosis, distorted pelvis, but the most striking feature was the absence of thumb and aplasia of radius of left side. She did not suffer from any ocular or auricular abnormalities, neither from any cardiological, urogenital or gastroenteric ones. Radial defects associated with GS might represent a subset within this spectrum. Our case probably belongs to this subset, therefore is a very rare one. PMID:24402760

Biswas, S; Adhikari, A; Meyur, R; Kundu, P

2013-11-01

282

Twin-to-twin transfusion syndrome: a case study.  

PubMed

Twin-to-twin transfusion syndrome (TTTS) is a disease that affects roughly 15% of monochorionic twins. Although TTTS is not extremely prevalent, the rate of mortality and morbidly approaches 100% without early detection and treatment. The following case study is a triplet pregnancy that included a set of monochorionic twins affected by TTTS. Typically, it is assumed that monochorionicity can identify the zygosity of twins, which was disproven in this case. Research indicates that there has been an increased rate of monochorionic twins with in vitro fertilization. There is great debate about the most appropriate treatment modality for TTTS. Perinatal treatment followed by neonatal management is the standard of care for TTTS. Implications for the neonatal nurse practitioner and care for the patients are discussed. PMID:23360857

Giconi, Stephanie S

2013-02-01

283

A case report of pornography addiction with dhat syndrome  

PubMed Central

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

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

2014-01-01

284

[Forty-one cases of Cushing's syndrome: a comparison between Cushing's syndrome (adrenal adenoma) and Cushing's disease (adrenal hyperplasia)].  

PubMed

We experienced 41 cases of Cushing's syndrome (12 males and 29 females, 15 years old - 65 years old) during the last 20 years. These included 20 patients with unilateral adrenal adenoma (Cushing's syndrome), 19 patients with bilateral adrenal hyperplasia (Cushing's disease), one patient with adrenal carcinoma and one patient with primary adrenocortical nodular dysplasia (PAND). Moreover, these cases included some special ones, i.e. 5 cases with destructive thyroiditis after treatment, 2 cases with aggravation of arthritis after treatment, a case of Carney's complex with PAND, one case with paradoxical response to dexamethasone, and one case combined with empty sella syndrome. The most specific clinical signs were moon face (95% occurrence), hypertension (95%) and subcutaneous bruising (80%). Other significant signs were eye edema (66%), buffalo hump (68%), subcutaneous purpura (63%) and osteoporosis (49%). Skin striae was not a common sign in our cases (41%). Renal stone was observed in only 20% of our patients but was a significant sign in this syndrome. There was no difference in the occurrence of each clinical sign between Cushing's syndrome and Cushing's disease. The elevation of white blood cell count (WBC) and serum sodium, a decrease of serum potassium, and a decrease of reabsorption of phosphate (%TRP) were observed. Thyroid-stimulating hormone (TSH) and human growth hormone (HGH) were suppressed in patients with Cushing's syndrome and patients with Cushing's disease. These results were consistent with those of previous reports. However, luteinizing hormone (LH), follicle-stimulating hormone (FSH) and prolactin (PRL) were high in those patients with Cushing's syndrome and those with Cushing's disease. Oral glucose tolerance test was carried out in 34 patients before and after treatment. Thirty-one percent of those had diabetes mellitus and 26% had impaired glucose tolerance (IGT). The response of IRI in this test was high in patients with Cushing's syndrome and patients with Cushing's disease, and decreased 4 weeks after treatment in those with Cushing's syndrome but remained high in those with Cushing's disease. Plasma ACTH level and urinary 17-OHCS excretion were significantly higher in Cushing's disease than in Cushing's syndrome. During an 8mg-high-dose dexamethasone suppression test, urinary 17-OHCS excretion in 13 of 14 patients with Cushing's disease (93%) was suppressed by more than 50% of baseline on the second day of testing. However, all of 18 patients with Cushing's syndrome, who had an 8mg-dexamethasone suppression test, failed to suppress urinary 17-OHCS by 50% of baseline.(ABSTRACT TRUNCATED AT 400 WORDS) PMID:1633931

Komiya, I; Takasu, N; Ohara, N; Nagasawa, Y; Ohtsuka, H; Asawa, T; Yamada, T

1992-06-20

285

Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research.  

PubMed

In this review, our work on CHARGE syndrome will be used to exemplify the role of rare cases in birth defects research. The analysis of 29 cases with mutations of CHD7, the causative gene for CHARGE syndrome, clarified the relative importance of the cardinal features, including facial nerve palsy and facial asymmetry. Concurrently, in situ hybridization using chick embryos studies were performed to delineate the expression pattern of Chd7. The Chd7-positive regions in the chick embryos and the anatomical defects commonly seen in patients with CHARGE syndrome were well correlated: expression in the optic placode corresponded with defects such as coloboma, neural tube with mental retardation, and otic placode with ear abnormalities. The correlation between expression in the branchial arches and nasal placode with the clinical symptoms of CHARGE syndrome, however, became apparent when we encountered two unique CHARGE syndrome patients: one with a DiGeorge syndrome phenotype and the other with a Kallman syndrome phenotype. A unifying hypothesis that could explain both the DiGeorge syndrome phenotype and the Kallman syndrome phenotype in patients with CHARGE syndrome may be that the mutation in CHD7 is likely to exert its effect in the common branch of the two pathways of neural crest cells. As exemplified in CHARGE syndrome research, rare cases play a critical role in deciphering the mechanisms of human development. Close collaboration among animal researchers, epidemiologists and clinicians hopefully will enhance and maximize the scientific value of rare cases. PMID:21338411

Kosaki, Kenjiro

2011-03-01

286

Diagnostic role of magnetic resonance angiography in Swyer James syndrome: Case series of two cases.  

PubMed

Swyer James syndrome is a rare syndrome which occurs due to viral illness in early childhood. The post infective obliterative bronchiolitis results in arrest of lung growth and alveolarization with reduced vascularity resulting in classical radiological features. We describe two cases of patients fulfilling all the criteria of the syndrome - 1) Unilateral hyperlucent small lung in chest radiograph with air trapping on expiration, small ipsilateral hila and pulmonary artery. 2) Diffuse decrease in attenuation of lung parenchyma with bronchiectasis and reduction in vascularity. 3) Unilateral pruned tree appearance on angiography (MRA). The clinical presentation was recurrent chest infection in a child and infrequent bouts of hemoptysis in a middle aged female. The study demonstrates the role of magnetic resonance angiography in diagnosing the condition. PMID:20931037

C Parashari, Umesh; Singh, Ragini; Parihar, Anit; Aga, Pallavi; Yadav, Rajesh

2010-07-01

287

Diagnostic role of magnetic resonance angiography in Swyer James syndrome: Case series of two cases  

PubMed Central

Swyer James syndrome is a rare syndrome which occurs due to viral illness in early childhood. The post infective obliterative bronchiolitis results in arrest of lung growth and alveolarization with reduced vascularity resulting in classical radiological features. We describe two cases of patients fulfilling all the criteria of the syndrome - 1) Unilateral hyperlucent small lung in chest radiograph with air trapping on expiration, small ipsilateral hila and pulmonary artery. 2) Diffuse decrease in attenuation of lung parenchyma with bronchiectasis and reduction in vascularity. 3) Unilateral pruned tree appearance on angiography (MRA). The clinical presentation was recurrent chest infection in a child and infrequent bouts of hemoptysis in a middle aged female. The study demonstrates the role of magnetic resonance angiography in diagnosing the condition. PMID:20931037

Parashari, Umesh C.; Singh, Ragini; Parihar, Anit; Aga, Pallavi; Yadav, Rajesh

2010-01-01

288

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

PubMed Central

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

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

2014-01-01

289

[Genetic analysis of Turner syndrome: 89 cases in Tunisia].  

PubMed

Turner's syndrome (TS) affects about 1/2500 female infants born alive. The syndrome results from total or partial absence of one of the two X chromosomes normally present in females. We report the results of a retrospective analysis of 89 cases of TS observed during a six-year period (2000-2005). The patients' age ranged from two days to 51 years at the time of this analysis. Most patients were adults (48%). The aim of this study is to ascertain the principal clinical features leading to a request for a karyotype, searching for a possible relationship between chromosomal anomalies and clinical expression of TS. Pediatric patients were referred for statural retardation or dysmorphic features, while reproduction anomalies were the main indication for karyotyping in patients aged over 20 years. Mosaicism was prevalent (47%), whereas the homogeneous karyotype 45,X was found in only 32% of the patients; structural anomalies were found in 21%. Regarding the advanced age of our patients, we established a relationship between chromosome anomalies and the clinical expression of TS, based on an analysis of stature and reproduction disorders. Short stature and primary amenorrhea were correlated with total deletion of one chromosome X or imbalanced gene dosage due to structural X anomalies. Whereas cases of infertility, recurrent miscarriages and secondary amenorrhea were associated with a mosaic karyotype pattern (45,X/46,XX or 45,X/46,XX/47,XXX ...), with a slight mosaicism in most cases. Thus, chromosome investigations should be performed in cases of reproduction failure even for women with normal stature. PMID:18541220

Kammoun, I; Chaabouni, M; Trabelsi, M; Ouertani, I; Kraoua, L; Chelly, I; M'rad, R; Ben Jemaa, L; Maâzoul, F; Chaabouni, H

2008-11-01

290

[Reversible cerebral vasoconstriction syndrome associated with stroke: three case reports].  

PubMed

Reversible cerebral vasoconstriction syndrome(RCVS)is characterized by severe headache and diffuse segmental constriction of cerebral arteries that resolves spontaneously within a few months. Although manifestations of stroke are not included in diagnostic criteria of RCVS, it is known that some cases may be associated with stroke, including intracerebral hemorrhage, subarachnoid hemorrhage, or cerebral infarction. We present three cases of RCVS associated with various types of stroke, and then review the literature. Case 1:A 49-year-old woman presented with a headache followed by left hemiparesis and dysarthria. One month before the onset, she was transfused for severe anemia caused by uterus myoma. CT images revealed intracerebral hemorrhages in the right putamen and right occipital lobe. Angiography revealed multiple segmental constrictions of the cerebral arteries. One month after the onset, these vasoconstrictions improved spontaneously. Case 2:A postpartum 38-year-old woman who had a history of migraine presented with thunderclap headache. Imaging revealed a focal subarachnoid hemorrhage in the right postcentral sulcus and segmental vasoconstriction of the right middle cerebral artery. One week after the onset, this vasoconstriction improved spontaneously. Case 3:A 32-year-old woman who had a history of migraine presented with headache followed by left homonymous hemianopsia. Imaging revealed a cerebral infarction of the right occipital lobe and multiple constrictions of the right posterior cerebral artery. These vasoconstrictions gradually improved spontaneously. PMID:24501186

Ishi, Yukitomo; Sugiyama, Taku; Echizenya, Sumire; Yokoyama, Yuka; Asaoka, Katsuyuki; Itamoto, Koji

2014-02-01

291

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

PubMed Central

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

2014-01-01

292

Unusual cases of right-sided and left-sided May-Thurner syndrome.  

PubMed

May-Thurner syndrome is a rare clinical entity involving venous obstruction of the left lower extremity. The May-Thurner syndrome is a phenomenon commonly described as an acquired stenosis of the left common iliac vein secondary to compression of the left common iliac vein between the right common iliac artery and the underlying vertebral body. We report one case of May-Thurner syndrome, and another rare case of reverse May-Thurner syndrome, incidently detected during intervention, in a case of aortic stenosis and mitral stenosis with dextrocardia and situs inversus. PMID:25007890

Vijayalakshmi, I B; Setty, H S Natraj; Narasimhan, Chitra

2015-04-01

293

A Case of Nephrotic Syndrome, Showing Evidence of Response to Saquinavir  

PubMed Central

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.

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

2015-01-01

294

Kocher Debre Semelaigne Syndrome: A Rare Case Report with Orofacial Manifestations  

PubMed Central

Kocher Debre Semelaigne Syndrome is a rare syndrome with clinical manifestation of hypothyroidism associated with pseudomuscular hypertrophy. Very few cases have been reported on kocher-debre semelaigne syndrome in the literature with the incidence reported to be less than 10%. As per our knowledge; until now, only one case of oro-facial manifestations has been reported. Here we report one such case of Kocher debre semelaigne syndrome in an 11 year old boy, showing features of macroglossia, multiple impacted teeth, puffed lips and anterior open bite. PMID:23599883

Panat, Sunil R.; Jha, Prakash Chandra; Chinnannavar, Sangamesh N.; Chakarvarty, Ankkita; Aggarwal, Ashish

2013-01-01

295

Adult diagnosis of Swyer-James-MacLeod syndrome: a case report  

Microsoft Academic Search

INTRODUCTION: Swyer-James-MacLeod syndrome or unilateral hyperlucent lung syndrome is a rare entity associated with postinfectious bronchiolitis obliterans occurring in childhood. It is characterized by hypoplasia and\\/or agenesis of the pulmonary arteries resulting in pulmonary parenchyma hypoperfusion. CASE PRESENTATION: Here we report the case of a 53-year-old Caucasian woman with Swyer-James-MacLeod syndrome found in the differential diagnosis workup for a new

Carlos Capela; Paulo Gouveia; Marco Sousa; Maria J Regadas

2011-01-01

296

Ganser syndrome after solitary confinement in prison: a short review and a case report.  

PubMed

A short review of the Ganser syndrome is given. The condition is a rare, probably dissociative, disorder with transient Vorbeireden as the central symptom. The case of a middle-aged man developing a transient Ganser syndrome after long-term solitary confinement in a remand prison is presented. Systematic investigation of 268 remand prisoners confirms the rarity of the syndrome, as only the case subject had this disorder. PMID:11827615

Andersen, H S; Sestoft, D; Lillebaek, T

2001-01-01

297

Non Traumatic Spinal Epidural Haematoma in a Woman with HELLP Syndrome: A Case Report  

PubMed Central

Spinal epidural haematomas (SEH) is a potentially reversible cause of spinal cord and nerve root compression which needs prompt surgical decompression for satisfactory neurological recovery. SEH occurs very rarely in pregnant woman with HELLP syndrome (hemolysis, elevated liver enzyme levels, and low platelet levels). Most of the SEH cases reported in HELLP syndrome in the literature are due to iatrogenic interventions. We report a still rarer case of non traumatic spinal epidural haematoma in a pregnant woman with HELLP Syndrome. PMID:25654010

Bansal, Juhi; Gupta, Amit; Goyal, Alka

2014-01-01

298

Ultrasonographic diagnosis of median arcuate ligament syndrome: a report of two cases.  

PubMed

The compression of the proximal part of the celiac trunk by median arcuate ligament of the diaphragm during expiration is defined as median arcuate ligament syndrome. It is a rare cause of chronic mesenteric ischemia. We report two cases with this syndrome, primarily diagnosed by Doppler ultrasound. The diagnosis was confirmed with digital substraction and computed tomography angiography in both cases. The role of ultrasound in the diagnostic work up of this syndrome is discussed with regard to the recent literature. PMID:22675717

Ozel, Alper; Toksoy, Guzide; Ozdogan, Osman; Mahmutoglu, Abdullah Soydan; Karpat, Zeki

2012-06-01

299

Multiple abdominal cysts in a patient with Gorlin-Goltz syndrome: a case report.  

PubMed

A rare case of symptomatic mesenteric cysts in a patient with Gorlin-Goltz syndrome, associated with various neoplasms, is presented. The patient, known with Gorlin-Goltz syndrome, consulted with increasingly severe abdominal pain and large abdominal cysts. At surgery, the cysts were excised and the postoperative course was uneventful. In conclusion, this case reminds clinicians to always maintain a wide differential diagnosis when dealing with patients known with Gorlin-Goltz syndrome. PMID:24941720

Haenen, F; Hubens, G; Creytens, D; Vaneerdeweg, W

2013-01-01

300

Systemic lupus erythematosusmyositis overlap syndrome: report of 6 cases  

PubMed Central

The incidence of myositis in patients with systemic lupus erythematosus (SLE) is low among different series. Here we attempt to describe the main features of SLE/myositis overlap syndrome. We retrospectively reviewed the medical records of 174 patients with SLE seen over 15-year period. All the patients fulfilled the revised American Rheumatology Association criteria for SLE. Patients who met The Bohan and Peter criteria for definite myositis were included in this study. Among those patients, six patients had an associated myositis (3.4% overall). They were 6 women with a mean age of 29 years (20–41 years). At the initial evaluation, 3 patients (50%) were complained from myalgia, and all patients had symmetrical muscle weakness (proximal muscle weakness in 6 cases with distal muscle weakness in 2 cases). The muscle disease was severe in 1 case. Involvements of muscles of the pharynx and upper esophagus were noted in 4 patients (66.6%). The creatine kinase (CK) levels were elevated in 4 cases with a mean rate of 2153.5 UI/L. The electromyogram (EMG) revealed signs of myositis in 5 cases. Muscle biopsy, performed in 5 patients, revealed an inflammatory myopathy changes in 4 cases. Antinuclear antibodies (ANA) were positive in all cases. All our patients were treated with high doses of corticosteroids with favorable outcome. Relapse of SLE disease had occurred in 2 patients. The association SLE-myositis is rare with heterogeneous presentation. Through our observations and literature data we will specify the characteristics of this association. PMID:24765389

Maazoun, Fatma; Frikha, Faten; Snoussi, Mouna; Kaddour, Neila; Masmoudi, Hatem; Bahloul, Zouhir

2011-01-01

301

Reduction of Stereotypical Hand Movements in Girls with Rett Syndrome: Two Case Studies.  

ERIC Educational Resources Information Center

This study explains the characteristics and treatment of individuals with Rett Syndrome and presents two case studies that investigated the use of interventions in reducing stereotypical hand movements (SHM). The case studies involve two girls (ages 5 and 7) with Rett Syndrome who were enrolled in a special education school. Information was…

Lotan, Meir; Roth, Dana

302

Fat Embolism Syndrome After Femur Fracture Fixation: a Case Report  

PubMed Central

Fat embolism syndrome (FES) is a multi-organ disorder with potentially serious sequelae that is commonly seen in the orthopaedic patient population after femur fractures. The major clinical features of FES include hypoxia, pulmonary dysfunction, mental status changes, petechiae, tachycardia, fever, thrombocytopenia, and anemia. Due to technological advances in supportive care and intramedullary reaming techniques, the incidence of FES has been reported as low as 0.5 percent. Here, we present a rare case of FES with cerebral manifestations. A previously healthy 24-year old nonsmoking male was admitted to our hospital after an unrestrained head-on motor vehicle collision. The patient's injuries included a left olecranon fracture and closed bilateral comminuted midshaft femur fractures. The patient went on to develop cerebral fat embolism syndrome (CFES) twelve hours after immediate bilateral intramedullary nail fixation. His symptoms included unresponsiveness, disconjugate gaze, seizures, respiratory distress, fever, anemia, thrombocytopenia, and visual changes. Head computed tomography and brain magnetic resonance imaging showed pathognomonic white-matter punctate lesions and watershed involvement. With early recognition and supportive therapy and seizure therapy, the patient went on to have complete resolution of symptoms without cognitive sequelae. PMID:25328460

Akoh, Craig C; Schick, Cameron; Otero, Jesse; Karam, Matthew

2014-01-01

303

A case of serotonin syndrome associated with methadone overdose.  

PubMed

A chronic pain patient prescribed 20 mg of methadone per day was seen at the Emergency Department within one hour following a witnessed intentional 200 mg ingestion. In addition, he was taking the serotonin re-uptake inhibitor antidepressant drugs, sertraline and venlafaxine as prescribed. Methadone is also a serotonin re-uptake inhibitor which has been involved in serotonin toxicity reactions. Initially, no symptoms of narcotic overdose (depressed central nervous system, respiration, or blood pressure) could be distinguished, and the standard narcotic urine screen was negative. No decontamination or antagonist therapy was given, and the patient was discharged to a psychiatric unit for observation. At 5 hours post-ingestion he presented in a panic with hallucinations and elevated blood pressure, pulse, and respiration. These symptoms are characteristic of serotonin syndrome which is often described as mental status changes, autonomic hyperactivity, and neuromuscular abnormalities. At 10 hours post-ingestion the patient was found unconscious. He had aspirated stomach contents into his lungs. His respiration, blood pressure, and pulse were all severely depressed. He never regained conciousness, and he died 5 days later. The medical examiner's finding was probable acute methadone intoxication. In this case serotonin syndrome appears to have opposed and delayed typical narcotic symptoms. Methadone has additional pharmacologic and toxicologic properties which may complicate the assessment and treatment in overdose situations. PMID:19544673

Martinez, Terry T; Martinez, Daniel N

2008-01-01

304

Familial ectrodactyly syndrome in a nigerian child: a case report.  

PubMed

Ectrodactyly, also known as Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod. It has a prevalence of 1:10,000-1:90,000 worldwide. The X-linked and autosomal dominant types have been described. It can occur as an isolated malformation or in combination with other anomalies, such as tibial aplasia, craniofacial defects, and genitourinary abnormalities. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is an example of ectrodactyly syndrome accompanied by multiple organ defects. Ectrodactyly has been reported in Africa, especially in several families in remote areas of central Africa but there has not been any published work on ectrodactyly in Nigeria. A baby was born in Ilorin, North Central Zone of Nigeria, with an uneventful prenatal and delivery history but was noticed to have malformation of the two hands and the two lower limbs at birth which are replica of the father's malformation. We present this case to highlight familial ectrodactyly in Nigeria and prepare us to improve upon simple prenatal diagnosis and management of the challenges associated with patients with congenital malformation in Nigeria and other developing countries. PMID:22043435

Durowaye, Mathew; Adeboye, Muhammed; Yahaya-Kongoila, Sefiyah; Adaje, Adeline; Adesiyun, Omotayo; Ernest, Samuel Kolade; Mokuolu, Olugbenga Ayodeji; Adegboye, Abdulrasheed

2011-07-01

305

Atlantoaxial arthrodesis using C1-C2 transarticular screw fixation in a case of Morquio syndrome.  

PubMed

Prophylactic or therapeutic arthrodesis is recommended for atlantoaxial instability in Morquio syndrome. Occipitocervical fusion, the common approach for upper cervical fusion in Morquio syndrome sacrifices the movements at the occipitoatlantal joints. The use of C1-C2 transarticular screws for achieving C1-C2 arthrodesis, without compromising mobility at the occipitoatlantal joint in Morquio syndrome has not been reported. We report a case of Morquio syndrome with atlantoaxial instability and odontoid hypoplasia, where we successfully achieved C1-C2 arthrodesis using transarticular screws and bone graft. The advantages of this method over other methods of atlantoaxial arthrodesis in Morquio syndrome have also been discussed. PMID:21886932

Kulkarni, Arvind G; Shah, Siddharth M

2011-09-01

306

Prolonged QT syndrome and sedation: a case report and a review of the literature.  

PubMed

Prolonged QT syndrome is the most common genetic arrhythmia syndrome, and the majority of patients are undiagnosed. The syndrome is characterized by abnormally long ventricular repolarization (QT interval) on electrocardiogram, which may manifest as syncopal episodes, arrhythmias, or sudden death. Arrhythmias may be precipitated by stress or medications. There are few randomized controlled trials examining the safety of typical sedation medications in the patient with prolonged long-QT syndrome. This case describes the management of sedation in a patient with prolonged long-QT syndrome and then reviews the current literature regarding commonly utilized sedation medications. PMID:21293222

Mikesell, Christine E; Atkinson, David E; Rachman, Bonnie R

2011-02-01

307

An uncommon case of Marine-Lenhart syndrome.  

PubMed

The term Marine-Lenhart syndrome describes the association between Graves' disease and autonomously functioning thyroid nodules (AFTN), such as toxic adenoma or toxic multinodular goiter. The two diseases may coexist or may be present at different moments in the same patient. In the literature, there are many reports on the development of Graves' disease after radioiodine treatment for AFTN, but very little information may be found on the occurrence of AFTN after radioiodine therapy for Graves' disease. We describe here the case of a female patient with Graves' disease who was successfully treated with radioiodine for Graves' disease, returning to normal thyroid function. Three years later, biochemical analysis and ultrasound examination identified a thyroid nodule that progressively increased in size. The 99mTc-pertechnetate scintigraphy showed avid uptake in the right lobule, which corresponded to a nodular lesion consistent with AFTN. PMID:24936736

Giuffrida, Giuseppe; Giovinazzo, Salvatore; Certo, Rosaria; Vicchio, Teresa Manuela; Baldari, Sergio; Campenně, Alfredo; Ruggeri, Rosaria Maddalena

2014-06-01

308

Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report  

PubMed Central

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

Rincón-Sánchez, Ana Rosa; Arce, Irma Elia; Tostado-Rabago, Enrique Alejandro; Vargas, Alberto; Padilla-Gómez, Luis Alfredo; Bolańos, 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

309

Hepatorenal Syndrome with Cirrhotic Cardiomyopathy: Case Report and Literature Review  

PubMed Central

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.

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

2015-01-01

310

Ogilvie's syndrome in a case of myxedema coma  

PubMed Central

Ogilvie's syndrome [acute colonic pseudo-obstruction (ACPO)] presents as massive colonic dilatation without a mechanical cause, usually in critically ill patients due to imbalanced sympathetic and parasympathetic activity. The initial therapy remains conservative with supportive measures (correction of metabolic, infectious or pharmacologic factors) followed by neostigmine and decompressive colonoscopy. Surgery is reserved for patients with clinical deterioration or with evidence of colonic ischemia or perforation. A 60-year-old lady presented with fever, altered sensorium, obstipation, bradycardia and abdominal distension. Investigation revealed hyponatremia and acute colonic pseudo-obstruction. Supportive measures and decompressive colonoscopy were not of great benefit. Thyroid profile was suggestive of primary hypothyroidism. Colonic motility was restored only on starting thyroxin. The case is illustrative of the need to consider hypothyroidism, a common endocrine disorder, in the differential diagnosis of Ogilvie's. PMID:22629518

Yanamandra, Uday; Kotwal, Narendra; Menon, Anil; Nair, Velu

2012-01-01

311

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

PubMed Central

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

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

2014-01-01

312

Swyer syndrome: a case report with literature review.  

PubMed

Gonadoblastomas are known to develop in dysgenetic gonads, especially so, if Y chromosome material is present. A 20-years-old girl who noticed breast development since the age of 12 years presented with primary amenorhoea, distension of lower abdomen and intermittent pain for two months. She had breakthrough bleeding with six months of estrogen replacement. Tanner breast stage was five and pubic hair stage was also five. Examination revealed a mass in the lower abdomen extending into hypogastrium, umbilical and lumbar regions. Her gonadotropin levels were grossly elevated. Karyotyping showed 46XY. CT scan of abdomen showed a 17X11 cm mass in the pelvis without visible gonads. Surgical excision of the mass along with bilateral salpingophorectomy was performed. Histopathology revealed the mass to be a dysgerminoma, while the right gonad lodged gonadoblastoma. She was diagnosed as a rare case of Swyer syndrome. PMID:23478733

Patnayak, R; Suresh, V; Jena, A; Rajagopal, G; Vijayalakshmi, B; Reddy, A P; Rukumangadha, M; Sachan, A

2012-01-01

313

Oxcarbazepine-induced Stevens-Johnson syndrome: a case report.  

PubMed

Although carbamazepine (CBZ) is the most common cause of Stevens-Johnson syndrome (SJS), a new anticonvulsant, oxcarbazepine, which is structurally related to carbamazepine, has been shown to induce SJS, although extremely rarely. Recently, a strong association was found between human leukocyte antigen (HLA) B*1502 and CBZ-induced SJS/TEN in a Han Chinese population. Here, we report a case with SJS, which was induced by oxcarbazepine. HLA genotyping in the patient showed HLA-B*1518/B*4001. HLA-B*1518 is a HLA-B15 variant. The genetic significance of HLA-B*1518 in association with oxcarbazepine-induced SJS needs to be further studied. PMID:19321411

Lin, Lung-Chang; Lai, Ping-Chin; Yang, Sheau-Fang; Yang, Rei-Cheng

2009-02-01

314

Christ-siemens-touraine syndrome: case report of 2 brothers.  

PubMed

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

Vora, Rita V; Anjaneyan, Gopikrishnan; Chaudhari, Arvind; Pilani, Abhishek P

2014-10-01

315

An atypical case of neuroleptic malignant syndrome precipitated by valproate.  

PubMed

Neuroleptic malignant syndrome (NMS) can be caused by various drugs. We report a case of a 60-year-old woman who presented with high-grade fever, muscular rigidity, tachycardia, tachypnoea and altered sensorium along with seizures. She had been taking olanzapine for the past 2 years for psychosis. For the last month valproate was added to her treatment. Her blood investigations revealed hyponatraemia and raised serum ammonia and creatinine phosphokinase (CPK) levels. In view of hyperthermia, muscular rigidity, autonomic disturbances, altered mental status and raised CPK, a diagnosis of NMS was made. Valproate could have probably precipitated NMS; although the patient was taking antipsychotics for a long time, it was only with the addition of valproate that she developed these symptoms. Raised serum ammonia levels also indicated the presence of valproate toxicity. Seizures were probably due to electrolyte disturbances. Offending drugs were withdrawn. The patient improved with treatment by dopamine agonist and other supportive treatments. PMID:24604797

Verma, Rajesh; Junewar, Vivek; Rathaur, Bhanu Pratap Singh

2014-01-01

316

Sensory Guillain-Barré syndrome: A case report  

PubMed Central

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

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

2014-01-01

317

Marfan Syndrome in an Iranian Family: A Case Series  

PubMed Central

Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family (father, two daughters, three sons, and six grandchildren) had MFS. Lens ectopia was the most common ophthalmic involvement among the family (100%). Other ocular involvements were as follows; Hypoplastic iris or ciliary’s muscle hypoplasia (50%), on gated eyeball (42%), flat cornea (30%), glaucoma and cataract (25%), retinal detachment (16%). Three members of the family underwent eye surgery including lens extraction, glaucoma surgery and retinal surgery. PMID:25031493

Davari, Mohammad Hossein; Kazemi, Toba

2014-01-01

318

Primary adrenal insufficiency in case of antiphospholipid syndrome  

PubMed Central

Addison's disease or primary adrenal insufficiency (PAI) is a rare manifestation of antiphospholipid syndrome (APS). PAI is the most common among the endocrinologic manifestations and can also rarely be the presenting symptom of APS. Venous thrombosis and/or adrenal hemorrhage are the leading cause of PAI in APS. Autoimmune adrenal failure is postulated to be another possible mechanism. We report a case of PAI in a 44-year-old lady preceding primary APS, probably autoimmune, without any evidence of adrenal hemorrhage or infarction. High index of clinical suspicion for PAI in APS is needed; conversely APS should be considered as a possible pathogenetic process in patients presenting with Addison's disease where the etiology is not obvious. PMID:24251177

Sanyal, Debmalya; Raychaudhuri, Moutusi

2013-01-01

319

Primary adrenal insufficiency in case of antiphospholipid syndrome.  

PubMed

Addison's disease or primary adrenal insufficiency (PAI) is a rare manifestation of antiphospholipid syndrome (APS). PAI is the most common among the endocrinologic manifestations and can also rarely be the presenting symptom of APS. Venous thrombosis and/or adrenal hemorrhage are the leading cause of PAI in APS. Autoimmune adrenal failure is postulated to be another possible mechanism. We report a case of PAI in a 44-year-old lady preceding primary APS, probably autoimmune, without any evidence of adrenal hemorrhage or infarction. High index of clinical suspicion for PAI in APS is needed; conversely APS should be considered as a possible pathogenetic process in patients presenting with Addison's disease where the etiology is not obvious. PMID:24251177

Sanyal, Debmalya; Raychaudhuri, Moutusi

2013-10-01

320

Naturalistic Intervention for Asperger Syndrome: A Case Study  

ERIC Educational Resources Information Center

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…

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

2008-01-01

321

Type IV Bartter syndrome: report of two new cases  

Microsoft Academic Search

Bartter syndrome with sensorineural deafness (type IV Bartter syndrome) is a subtype of this tubular disease, and is due to mutations in the BSND gene. Out of a population of 92 patients with Bartter syndrome, five suffered from mild to severe hypoacusia and were selected for mutational screening. A homozygous mutation in the BSND gene was found in two female

Marco Zaffanello; Anna Taranta; Alessia Palma; Alberto Bettinelli; Gian Luigi Marseglia; Francesco Emma

2006-01-01

322

Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.  

PubMed

The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes. PMID:22759387

Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

2012-01-01

323

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

PubMed

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

Jost, Gregory F; Dailey, Andrew T

2015-04-01

324

Alagille's syndrome associated with proximal radio-ulnar synostosis: Clinical case and a literature review.  

PubMed

Alagille's syndrome is an infrequent genetic condition with autosomal inheritance and variable expression. The complete form exhibits 5 clinical signs, chronic intrahepatic cholestasis, characteristic facies, cardiovascular anomalies, posterior embryotoxon, and vertebral defects. If only 3 or 4 of these are present the case is considered as an incomplete form. The association of Alagille's syndrome with radio-ulnar synostosis is extremely rare. There is only one case described in the indexed literature. A case is presented of Alagille's syndrome with bilateral proximal radioulnar synostosis. To the best of our knowledge this is the second reported case of this association. PMID:25037110

Couceiro, J; Gómez, B; Sanmartín, M

2014-07-15

325

A non-syndrome case with bilateral supernumerary canines: report of a rare case.  

PubMed

Supernumerary teeth are described as the teeth formed in excess of the normal dental formula. Prevalence of supernumerary teeth varies between 0.1% and 3.8% in general Caucasian population. They have been reported in both the primary and the permanent dentition. Supernumerary teeth may occur in any region of the dental arch. However, a supernumerary tooth in the canine region is a rare condition and to our knowledge, a non-syndrome case with bilateral supplemental maxillary canines did not exist in the literature. It was the aim of this report to evaluate this rare case in view of both oral radiology and orthodontics. PMID:16120884

Türkkahraman, H; Yilmaz, H H; Cetin, E

2005-09-01

326

Spontaneous intracranial hemorrhage as an initial manifestation of primary Sjögren’s syndrome: a case report  

PubMed Central

Background Sjögren’s syndrome can involve the central nervous system; however, spontaneous intracranial hemorrhage has rarely been reported as the initial manifestation. Case presentation We report a 39-year-old woman with primary Sjögren’s syndrome presenting with intracranial hemorrhage. The diagnosis of primary Sjögren’s syndrome was based on the presence of ocular dryness, salivary gland secretory and excretory dysfunction confirmed with dynamic tracer emission CT, and positive anti-Sjögren’s syndrome A and anti-Sjögren’s syndrome B antibodies. Conclusion Primary Sjögren’s syndrome can present with variable central nervous system signs, which may precede the classic sicca symptoms. Therefore, Sjögren’s syndrome-associated indicators should be investigated in patients without the common risk factors for stroke who present with spontaneous intracranial hemorrhage. PMID:23889823

2013-01-01

327

[Genetic diagnostic testing in inherited retinal dystrophies].  

PubMed

Inherited retinal dystrophies are clinically and genetically highly heterogeneous. They can be divided according to the clinical phenotype and course of the disease, as well as the underlying mode of inheritance. Isolated retinal dystrophies (i.e., retinitis pigmentosa, Leber's congenital amaurosis, cone and cone-rod dystrophy, macular dystrophy, achromatopsia, congenital stationary nightblindness) and syndromal forms (i.e., Usher syndrome, Bardet-Biedl syndrome) can be differentiated. To date almost 180 genes and thousands of distinct mutations have been identified that are responsible for the different forms of these blinding illnesses. Until recently, there was no adequate diagnostic genetic testing available. With the development of the next generation sequencing technologies, a comprehensive genetic screening analysis for all known genes for inherited retinal dystrophies has been established at reasonable costs and in appropriate turn-around times. Depending on the primary clinical diagnosis and the presumed mode of inheritance, different diagnostic panels can be chosen for genetic testing. Statistics show that in 55-80 % of the cases the genetic defect of the inherited retinal dystrophy can be identified with this approach, depending on the initial clinical diagnosis. The aim of any genetic diagnostics is to define the genetic cause of a given illness within the affected patient and family and thereby i) confirm the clinical diagnosis, ii) provide targeted genetic testing in family members, iii) enable therapeutic intervention, iv) give a prognosis on disease course and progression and v) in the long run provide the basis for novel therapeutic approaches and personalised medicine. PMID:23208805

Kohl, S; Biskup, S

2013-03-01

328

Catatonia, neuroleptic malignant syndrome, and cotard syndrome in a 22-year-old woman: a case report.  

PubMed

The following case study describes a 22-year-old woman with depression and symptoms of psychosis who developed neuroleptic malignant syndrome after using Risperidone, thus requiring life support equipment and Bromocriptine, later recovering after seven days. From a psychiatric and neurological point of view, however, the persistence of catatonic syndrome and Cotard syndrome delusions was observed, based on assertions such as "I do not have a heart," "my heart is not beating," "I can not breathe," "I am breaking apart," "I have no head" (ideas of negation) and statements about the patient being responsible for the "death of the whole world" (ideas of enormity). Brain NMR revealed leukoencephalopathy, interpreted as scar lesions caused by perinatal neurological damage, after discarding other pathologies. The patient responded well to electroconvulsive therapy after 11 sessions. Organic vulnerability to these syndromes, as well as their coexistence and clinical differentiation is discussed in the light of the data observed. PMID:24093068

Weiss, C; Santander, J; Torres, R

2013-01-01

329

Catatonia, Neuroleptic Malignant Syndrome, and Cotard Syndrome in a 22-Year-Old Woman: A Case Report  

PubMed Central

The following case study describes a 22-year-old woman with depression and symptoms of psychosis who developed neuroleptic malignant syndrome after using Risperidone, thus requiring life support equipment and Bromocriptine, later recovering after seven days. From a psychiatric and neurological point of view, however, the persistence of catatonic syndrome and Cotard syndrome delusions was observed, based on assertions such as “I do not have a heart,” “my heart is not beating,” “I can not breathe,” “I am breaking apart,” “I have no head” (ideas of negation) and statements about the patient being responsible for the “death of the whole world” (ideas of enormity). Brain NMR revealed leukoencephalopathy, interpreted as scar lesions caused by perinatal neurological damage, after discarding other pathologies. The patient responded well to electroconvulsive therapy after 11 sessions. Organic vulnerability to these syndromes, as well as their coexistence and clinical differentiation is discussed in the light of the data observed. PMID:24093068

Weiss, C.; Santander, J.; Torres, R.

2013-01-01

330

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

PubMed

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

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

2015-04-01

331

A Rare Case of Crowned Dens Syndrome Mimicking Aseptic Meningitis  

PubMed Central

Background Crowned dens syndrome (CDS), related to microcrystalline deposition in the periodontoid process, is the main cause of acute or chronic cervical pain. Microcrystal-line deposition most often consists of calcium pyrophosphate dehydrate crystals and/or hydroxyapatite crystals. Case Presentation This report describes the case of an 89-year-old woman who presented with sudden onset, high fever, severe occipital headache, and neck stiffness. A laboratory examination revealed a markedly elevated white blood cell count (11,100/µl) and C-reactive protein level (23.8 mg/dl). These clinical findings suggested severe infection such as meningitis with sepsis. However, the results of blood culture, serum endotoxin, and procalcitonin were all negative, and cerebrospinal fluid studies revealed only a slight abnormality. The patient was first diagnosed with meningitis and treated with antiviral and antibiotic agents as well as non-steroidal anti-inflammatory drugs, but they only had limited effects. A cervical plain computed tomography (CT) scan and its three-dimensional (3D) reconstruction detected a remarkable crown-like calcification surrounding the odontoid process. On the basis of the CT findings, the patient was diagnosed as a severe case of CDS and was immediately treated with corticosteroids. The patient's condition drastically improved within a week after one course of corticosteroid therapy. Conclusion Some atypical symptoms of CDS are misleading and may be misdiagnosed as meningitis, as happened in our case. A CT scan, especially a 3D-CT scan, is necessary and useful for a definitive diagnosis of CDS. CDS should be considered as a differential diagnosis of a possible etiology for fever, headache, and cervical pain of unknown origin. PMID:23569451

Takahashi, Teruyuki; Minakata, Yugo; Tamura, Masato; Takasu, Toshiaki; Murakami, Marohito

2013-01-01

332

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

PubMed

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

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

2015-02-01

333

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

Microsoft Academic Search

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

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

2011-01-01

334

Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1.  

PubMed

Trichorhinophalangeal syndrome type 1 is a rare skeletal dysplasia of autosomal-dominant inheritance due to defects in the TRPS-1 gene. The syndrome is characterised by sparse slow-growing hair, a bulbous pear-shaped nose, cone-shaped epiphyses and deformities of the interphalangeal joints resembling those in rheumatoid arthritis. We present a case of trichorhinophalangeal syndrome in a 23-year-old man who presented with symmetrical painless progressive deformity of the fingers in both hands. PMID:25628322

Narayanan, Ramakrishna; Chennareddy, Srinivasa

2015-01-01

335

A rare case of Capgras syndrome observed in wake-amine induced psychosis.  

PubMed

An adolescent girl showed the apparent Capgras syndrome in the course of wake-amine induced psychosis. The patient, then 18, committed homicide in close connection with the syndrome and also with the distorted judgment due to personality immaturity. As far as the syndrome was concerned, the extension was so extreme that it involved her neighbors and even her dwelling city. The detailed case history was reported along with a discussion about the psychodynamism. PMID:7274870

Kimura, S; Inamoto, Y; Katsurada, T

1981-01-01

336

Multiple Aortic Operations in Loeys-Dietz Syndrome: Report of 2 Cases  

PubMed Central

Due to its low prevalence and because there is lack of awareness about it, Loeys-Dietz syndrome is often mis-diagnosed as Marfan syndrome, which has similar skeletal abnormalities and aortic pathology. However, the differential diagnosis between these two connective tissue diseases is critical because they correspond to different surgical indications and surgical decision-making. We report two cases of successful thoracoabdominal aortic replacement in patients with previously undiagnosed Loeys-Dietz syndrome. PMID:25551076

Na, Kwon Joong; Park, Kay-Hyun

2014-01-01

337

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

PubMed

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

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

1987-01-01

338

Systemic capillary leak syndrome under general anesthesia: a case report  

PubMed Central

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

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

2014-01-01

339

Compartment Syndrome After Serial Casting in Spastic Diplegic Cerebral Palsy: A Case Report  

Microsoft Academic Search

Muchow RD, Flannery WD, Miedaner JA, Noonan KJ, McCarthy JJ. Compartment syndrome after serial casting in spastic diplegic cerebral palsy: a case report.We present the case of a 24-year-old woman with spastic diplegic cerebral palsy who developed left lower extremity compartment syndrome after serial casting to treat an equinus contracture. To our knowledge, this represents the first case of compartment

Ryan D. Muchow; Walker D. Flannery; James A. Miedaner; Kenneth J. Noonan; James J. McCarthy

2010-01-01

340

Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome.  

PubMed

Complete Androgen insensitivity syndrome is a disorder of hormone resistance characterized by a female phenotype in an individual with an XY karyotype. The pathogenesis of CAIS involves a defective androgen receptor gene located on X-chromosome at Xq11-12and end organ insensitivity to androgens, although androgen concentrations are appropriate for the age of the patient. There are three major types of androgen insensitivity syndrome: Complete androgen insensitivity syndrome, minimal androgen insensitivity syndrome, and partial androgen insensitivity syndrome. Management of androgen insensitivity syndrome includes multidisciplinary approach and involves gonedectomy to avoid gonadal tumors in later life. Hormone replacement therapy (HRT) and psychological support are required in long-term basis. PMID:25395750

Bhaskararao, G; Himabindu, Y; Nayak, Samir Rajan; Sriharibabu, M

2014-07-01

341

[A case of ilioinguinal hernia with Möbius syndrome].  

PubMed

We gave general anesthesia for an infant with ilioinguinal hernia and Möbius syndrome. Anesthesia was performed with sevoflurane inhalation and intravenous infusion of remifentanil. Intraoperative anesthetic course was uneventful. Möbius syndrome is a syndrome of rhombencephalic maldevelopment involving predominantly motor nuclei and axons, as well as traversing long tracts. Airway management is a great challenge in these patients. Micrognathia, retrognathia, mandibular hypoplasia, and palatine cleft are some of the manifestations seen in these patients. PMID:23984574

Osaka, Yoshimune; Ando, Takeshi; Kozono, Yuuki; Saito, Ikue; Saito, Rie; Shimada, Muneaki

2013-08-01

342

[Urgent thyroidectomy for a mechanical syndrome caused by a toxic nodular goiter--a case report].  

PubMed

We present a case of emergency surgery of an 86-year-old patient with an extensive cevicomediastinal toxic nodular goiter. Acutely onset mechanical syndrome during hospitalization of the patient in another department for a different diagnosis (vertebrogenic algic syndrome of Th-L spine) warranted acute intubation and mechanical ventilation. After the transfer of the patient to our department, we performed total thyroidectomy. All published cases of acute compression syndrome with respiratory insufficiency involve anaplastic carcinoma transformation, fast growing lymphoma, injuries with an intraglandular haemorrhage or infected cysts. In this case the reason was the benign disease of the thyroid gland. PMID:21121144

Jandousová, E; Gladis, P; Stetka, P; Krpenský, A; Korsa, M

2010-08-01

343

Autoimmune Polyglandular Syndrome Type II - A Case Report.  

PubMed

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

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

2015-01-01

344

Gorlin-Goltz syndrome: a rare case report.  

PubMed

Gorlin-Goltz syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is an infrequent multisystem disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterised by keratocystic odontogenic tumours (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographical examinations in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article describes an 11-year-old boy with GS. PMID:23814215

Mohan, Ravi Prakash Sasankoti; Verma, Sankalp; Agarwal, Neha; Singh, Udita

2013-01-01

345

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

Microsoft Academic Search

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.

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

1983-01-01

346

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

ERIC Educational Resources Information Center

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…

Andrews, Alice E.; Stonestreet, Ruth H.

347

Cardiac involvement in Churg-Strauss syndrome: a follow-up of three cases.  

PubMed

Three cases of Churg-Strauss syndrome with myocardial involvement are reported. Cardiac disease is known to be the major cause of death in Churg-Strauss syndrome. Aggressive therapy (steroids and cyclophosphamide) may cure the myocardial dysfunction associated with the disease. PMID:8131772

Renaldini, E; Spandrio, S; Cerudelli, B; Affatato, A; Balestrieri, G P

1993-12-01

348

Tumor lysis without syndrome in adenocarcinoma of the lung: Case report  

PubMed Central

Tumor lysis syndrome TLS is commonly seen during the treatment of rapidly proliferating. However TLS is rarely reported in Non-small cell Lung Cancer. This may because of low proliferative rate and chemo-resistant nature of NSCLC. We are reporting a case of tumor lysis without concomitant syndrome in a patient with adenocarcinoma of Lung.

Chopra, Amit; Marak, Creticus; Alappan, Narendra Kumar; Alterman, Daniel; Shim, Chang

2013-01-01

349

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

PubMed Central

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

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

1983-01-01

350

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

Microsoft Academic Search

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

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

351

Pathological gambling, delusional parasitosis and adipsia as a post-haemorrhagic syndrome: A case report  

Microsoft Academic Search

The authors describe the case of a 70-year-old male who developed a peculiar syndrome characterized by pathological gambling (PG), delusional parasitosis and adipsia with mild frontal symptoms. Onset of the syndrome followed a cerebral haematoma involving hypothalamic and bilateral ventromedial prefrontal areas. The potential manifestation of PG following a lesion in the above areas may contribute towards furthering the understanding

Gianluca Floris; Antonino Cannas; Monica Melis; Paolo Solla; Maria Giovanna Marrosu

2008-01-01

352

Treatment of Hyperthyroidism in Down Syndrome: Case Report and Review of Literature.  

ERIC Educational Resources Information Center

A case of an institutionalized adult male with Down syndrome and hyperthyroidism is reported. After treatment with radioactive iodine, he was found to be markedly hypothyroid when he was reviewed 11 weeks later. Three treatment options for hyperthyroidism in Down syndrome are reviewed: surgery, medical treatments, and radiotherapy. (Author/CR)

Ali, Fawzi E.; Al-Busairi, Waleed A.; Al-Mulla, Fatema A.

1999-01-01

353

Rare Association of Sensorimotor Polyneuropathy and Klinefelter Syndrome (47,XXY): Case Report  

Microsoft Academic Search

Objectives: To describe a case with the rare association of Klinefelter syndrome (47,XXY) and peripheral sensorimotor polyneuropathy. Clinical Presentation and Intervention: A 50-year-old man with Klinefelter syndrome was referred to our neurology clinic complaining of pain, numbness and tingles in both legs, which began 10 years prior to admission. Two years before admission, the patient had difficulty in walking with

E. Kararizou; A. F. Mentis; K. Gkiatas; P. Davaki

2011-01-01

354

Dissociation of social affect and theory of mind in a case of Asperger syndrome  

Microsoft Academic Search

We report on a case of Asperger syndrome (KH), who has considerable linguistic ability with a verbal IQ of 153. Strikingly, he readily and correctly identifies the use of sarcasm, showing mastery of the meta-representation and dissocia tion characteristic of 'interpretive use'. Cu rrent theories of the syndrome largely agree on the constellation of properties which define it, but disagree

NEIL SMITH; BEATE HERMELIN; IANTHI TSIMPLI

355

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

PubMed Central

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

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

1990-01-01

356

Streptococcus agalactiae toxic shock-like syndrome: two case reports and review of the literature.  

PubMed

We present 2 patients with Streptococcus agalactiae toxic shock-like syndrome and review another 11 well-reported cases from the literature. Streptococcal toxic shock-like syndrome is a devastating illness with a high mortality rate, therefore we stress the importance of early supportive management, antimicrobial therapy, and surgical intervention. Toxic shock-like syndrome is likely to be underestimated in patients with invasive Streptococcus agalactiae infection who present with shock. Early diagnosis requires high suspicion of the illness, along with a thorough mucocutaneous examination. Streptococcus agalactiae produces uncharacterized pyrogenic toxins, which explains the ability of the organism to cause toxic shock-like syndrome. PMID:23263717

Al Akhrass, Fadi; Abdallah, Lina; Berger, Steven; Hanna, Rami; Reynolds, Nina; Thompson, Shellie; Hallit, Rabih; Schlievert, Patrick M

2013-01-01

357

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

PubMed

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

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

2014-11-01

358

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

PubMed Central

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

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

2014-01-01

359

Bariatric Surgery in Hypothalamic Obesity  

PubMed Central

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

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

2012-01-01

360

CF Tucanae: Another Case of Coronal MAD Syndrome?  

NASA Astrophysics Data System (ADS)

We present and discuss an extreme-ultraviolet spectrum of the RS CVn binary CF Tuc obtained with the short-wavelength (5W) spectrometer on board the Extreme-Ultraviolet Explorer (EUVE) satellite. In addition to a continuum, only two spectral lines attributed to Fe XXII and Fe XXIII are detected. We show that the EUVE data can be reconciled with a solar abundance plasma only if most of CF Tuc's emission measure is located at temperatures of ?108 K; alternatively, the plasma must be iron depleted with most of the emission measure located at the peak temperature of the observed line contribution functions. A comparison with previously obtained ROSAT PSPC spectra argues strongly in favor of the latter situation. As a consequence, we are forced to the conclusion that the iron abundance in the corona of CF Tuc is reduced with respect to solar values by factors between 5 and 10. The reasons for the occurrence of this metal abundance deficiency syndrome (MADS) are unclear at present; however, for the specific case of CF Tuc, the extremely low coronal iron abundance might possibly result from an anomalously low photo spheric iron abundance.

Schmitt, J. H. M. M.; Stern, R. A.; Drake, J. J.; Kuerster, M.

1996-06-01

361

Gamma-hydroxybutyrate withdrawal syndrome: a case report  

PubMed Central

Introduction To raise awareness among health care workers of the risk of withdrawal symptoms after longstanding and intense abuse of gamma-hydroxybutyric acid. Case presentation A 23 year old Caucasian woman presented with gamma-hydroxybutyric addiction and withdrawal syndrome. The symptoms of gamma-hydroxybutyric withdrawal in this patient initially went unrecognized, upon which her situation deteriorated in such a way that she needed to be admitted to the Intensive Care Unit for airway protection and mechanical ventilation. Treatment with high doses of benzodiazepines led to liberation of the ventilator and further recovery. Conclusion Withdrawal symptoms of gamma-hydroxybutyric addiction are often not well recognized and the responsible physicians at Emergency Department, Intensive Care Unit and the Psychiatry ward need better understanding of diagnose and treatment. Gamma-hydroxybutyric acid withdrawal is potentially life threatening and its management may require a multidisciplinary approach. Early recognition of gamma-hydroxybutyric acid withdrawal may lead to better management of these patients. PMID:20181164

2009-01-01

362

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

ERIC Educational Resources Information Center

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.…

Gillberg, Christopher

1985-01-01

363

Abernethy syndrome, a rare cause of hypoxemia: A case report.  

PubMed

Abernethy syndrome (congenital extrahepatic portosystemic shunt (CEPS II)) as an etiology of hepatopulmonary syndrome (HPS) is uncommon. The severe hypoxemia and its consequences become incapacitating for the patient. Early shunt closure resolves hypoxemia and clinical symptomatology and prevents irreversible changes in pulmonary vasculature. PMID:25684892

Sahu, Manoj Kumar; Bisoi, Akshay Kumar; Chander, Naveen Chandrasekaran; Agarwala, Sandeep; Chauhan, Sandeep

2015-01-01

364

Abernethy syndrome, a rare cause of hypoxemia: A case report  

PubMed Central

Abernethy syndrome (congenital extrahepatic portosystemic shunt (CEPS II)) as an etiology of hepatopulmonary syndrome (HPS) is uncommon. The severe hypoxemia and its consequences become incapacitating for the patient. Early shunt closure resolves hypoxemia and clinical symptomatology and prevents irreversible changes in pulmonary vasculature. PMID:25684892

Sahu, Manoj Kumar; Bisoi, Akshay Kumar; Chander, Naveen Chandrasekaran; Agarwala, Sandeep; Chauhan, Sandeep

2015-01-01

365

Non-Syndromic Recurrent Multiple Odontogenic Keratocysts: A Case Report  

PubMed Central

Odontogenic keratocysts (OKCs) are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBS). It is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of only multiple recurring OKC. Our patient presented with nine cysts with multiple recurrences over a period of 11 years without any other manifestation of the syndrome. PMID:21998815

Bartake, AR.; Shreekanth, NG.; Prabhu, S.; Gopalkrishnan, K.

2011-01-01

366

Budd-Chiari Syndrome Caused by TIPS Malposition: A Case Report.  

PubMed

Budd-Chiari syndrome refers to hepatic pathology secondary to diminished venous outflow, most commonly associated with venothrombotic disease. Clinically, patients with Budd-Chiari present with hepatomegaly, ascites, abdominal distension, and pain. On imaging, Budd-Chiari syndrome is hallmarked by occluded IVC and or hepatic veins, caudate lobe enlargement, heterogeneous liver enhancement, intrahepatic collaterals, and hypervascular nodules. Etiopathological factors for Budd-Chiari syndrome include several systemic thrombotic and nonthrombotic conditions that can cause venous outflow obstruction at hepatic veins and/or IVC. While the transjugular intrahepatic portosystemic shunt (TIPS) is used as a treatment option for Budd-Chiari syndrome, Budd-Chiari syndrome is not a well-known complication of TIPS procedure. We report a case of Budd-Chiari syndrome that occurred in a transplanted cirrhotic liver from malpositioned proximal portion of the TIPS in IVC causing occlusion of the ostia of hepatic veins which was subsequently diagnosed on contrast-enhanced CT. PMID:24822068

Katkar, A S; Kuo, Anderson H; Calle, S; Gangadhar, K; Chintapalli, K

2014-01-01

367

[Tumor-infiltrating lymphocytes can be used to screen for lynch syndrome - a case report].  

PubMed

Lynch syndrome is an inherited syndrome associated with the development of colorectal and various other cancers. A 65- year-old male underwent a laparoscopic-assisted right hemi-colectomy for ascending colon cancer(cStage II). Histologically, his tumor was diagnosed as a poorly differentiated adenocarcinoma. Lymphocytic reactions, such as tumor-infiltrating lymphocytes(TIL), and Crohn's-like reactions, were observed. Genetic testing revealed the presence of a pathogenic mutation in the MLH1. In the Lynch syndrome, the most frequently observed findings include the accumulation of mutations, and an early onset of familial colon cancer. Although the case presented here did not showthe typical clinical findings of Lynch syndrome, histological examination of the lymphocytic reactions proved useful for screening for Lynch syndrome. Herein, we establish the important role of the pathologist in alerting the clinician to the possibility of Lynch syndrome when the findings of TIL and Crohn's-like reactions are detected. PMID:25731267

Tanakaya, Kohji; Kanaya, Nobuhiko; Shigeyasu, Kunitoshi; Kunitomo, Tomoyoshi; Aoki, Hideki; Takeuchi, Hitoshi; Yamasaki, Rie

2014-11-01

368

Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report.  

PubMed

Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor has been the topic of numerous investigators, is known for its potentially aggressive behavior, significant rate of recurrences. KCOT often occurs as a solitary lesion, in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid BCC, jaw cyst bifid rib basal cell nevus syndrome). Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular, cutaneous anomalies in the given clinical scenario, which has profound relevance in the clinical dental practice. PMID:25191087

Kulkarni, Gayithri Harish; Khaji, Shahanavaj I; Metkari, Suryakant; Kulkarni, Harish S; Kulkarni, Reshma

2014-07-01

369

Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report  

PubMed Central

Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor has been the topic of numerous investigators, is known for its potentially aggressive behavior, significant rate of recurrences. KCOT often occurs as a solitary lesion, in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid BCC, jaw cyst bifid rib basal cell nevus syndrome). Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular, cutaneous anomalies in the given clinical scenario, which has profound relevance in the clinical dental practice. PMID:25191087

Kulkarni, Gayithri Harish; Khaji, Shahanavaj I.; Metkari, Suryakant; Kulkarni, Harish S.; Kulkarni, Reshma

2014-01-01

370

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

PubMed

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

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-Woei; 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

2011-07-01

371

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

PubMed Central

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

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

372

A Report of Two Cases of Morquio's Syndrome Associated with Mental Retardation.  

ERIC Educational Resources Information Center

The paper details the case studies of two siblings, a boy aged 7 and a girl aged 5 1/2, who suffer from Morquio's Syndrome (a disease characterized by cartilagenous and bony abnormalities) as well as mental retardation. (PHR)

Kumar, Y. Vikram; And Others

1979-01-01

373

The Noonan Syndrome--A Review of the Clinical and Genetic Features of 27 Cases  

ERIC Educational Resources Information Center

Reviewed were clinical and genetic features of 27 cases of the Noonan Syndrome, a condition with characteristics such as webbing of the neck, short stature, frequent congential heart lesions, and chromosomal irregularities. (DB)

Collins, Edith; Turner, Gillian

1973-01-01

374

Brief Report: The Association between Autism and Fragile X Syndrome: A Case Report.  

ERIC Educational Resources Information Center

This article presents a case report of a male child with Fragile X syndrome, typical autistic behavior, and cerebellar hypoplasia. Questions are raised concerning the possible role and importance of cerebellar abnormalities in relation to autistic symptoms. (DB)

Lenti, Carlo

1995-01-01

375

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

PubMed Central

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

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

2014-01-01

376

Collet-Sicard syndrome as an initial presentation of prostate cancer: a case report  

Microsoft Academic Search

Background  Collet-Sicard syndrome is caused by lesions at the base of the skull affecting the lower cranial nerves. It is associated\\u000a with various etiologies of tumoral and other origin. Although this syndrome has been reported previously in the literature,\\u000a most cases are diagnosed as part of primary disease follow-up. This case is unusual because of the diagnosis of bone metastasis\\u000a secondary

Rosa Villatoro; Carlos Romero; Antonio Rueda

2011-01-01

377

Multimodal approach for the management of Hunan hand syndrome: a case report.  

PubMed

Hunan hand syndrome, a form of painful contact dermatitis, is a rare case finding. It is usually seen in people with continuous and prolonged exposure to chili peppers. The main ingredient in chili peppers is capsaicin that leads to the clinical condition, Hunan hand syndrome. This is paradoxical to the use of capsaicin as local application for relief of pain in various clinical situations, such as diabetic neuropathy and postherpetic neuralgia. We report a case of Hunan hand syndrome, managed successfully by using a multimodal approach comprised of a continuous stellate ganglion block, gabapentin, local ice water, and fluocinonide application. PMID:22681338

Saxena, Ashok Kumar; Mandhyan, Rajani

2013-03-01

378

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

PubMed

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

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

2014-04-01

379

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

PubMed Central

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

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

2013-01-01

380

46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report  

PubMed Central

Introduction Beckwith–Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors. In approximately 15% of patients, the inheritance is autosomal dominant with variable expressivity and incomplete penetrance, whereas the remainder of Beckwith–Wiedemann syndrome cases are sporadic. Beckwith–Wiedemann syndrome molecular etiologies are complex and involve the two imprinting centers 1 (IC1) and 2 (IC2) of 11p15 region. This case report describes, for the first time, the unusual association of ovotesticular disorder in a patient from Morelia, Mexico with Wiedemann-Beckwith syndrome. Case presentation We report the case of a Mexican six-year-old girl with Beckwith–Wiedemann Syndrome, ambiguous genitalia, and bilateral ovotestes. She has a 46,XX karyotype without evidence of Y-chromosome sequences detected by fluorescence in situ hybridization with both SRY and wcp-Y probes. Conclusion Although a random association between these two conditions cannot be excluded, future analysis of this patient with Beckwith–Wiedemann syndrome and 46,XX ovotesticular disorder may lead to new insights into these complex pathologies. We speculate that a possible misregulation in the imprinted genes network has a fundamental role in the coexistence of these two disorders. PMID:22974175

2012-01-01

381

The association between prune belly syndrome and dental anomalies: a case report  

PubMed Central

Background Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged. Case presentation The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors) were noted. Conclusion This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions. PMID:23249412

2012-01-01

382

Proteus Syndrome: Report of a Case with Developmental Glaucoma  

PubMed Central

The purpose of this study was to report developmental glaucoma and pseudopapilledema in a patient with Proteus syndrome. We defined the presence of developmental glaucoma, right pseudopapilledema and myopia in a 4.5-year-old patient with Proteus syndrome. Marked right hemihypertrophy, lipoma, macrodactyly, and asymmetry of the limbs were observed on systemic examination. A cavernoma was also detected in magnetic resonance imaging of the brain. The patient underwent bilateral goniotomy surgery due to glaucoma. The surgical outcomes were satisfactory in both eyes. In conclusions developmental glaucoma and pseudopapilledema might be associated with Proteus syndrome. PMID:24882963

Yuksel, Nursen; Sarman, Hakan; Bayramgurler, Dilek

2014-01-01

383

Cleft hand in Kabuki make-up syndrome: case report.  

PubMed

Kabuki make-up syndrome (KMS) is a multiple malformation/mental retardation syndrome that was first described in Japan but is now reported in many other ethnic groups. Kabuki make-up syndrome is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; mental retardation; and short stature. Common hand anomalies associated with KMS include persistent fingertip pad, brachydactyly, clinodactyly, and lax joints. We report a patient with KMS who presented with cleft hand, a feature that has not yet been described in KMS, and describe the potential genetic cause. PMID:21411242

Huh, Jung Kyu; Chung, Moon Sang; Baek, Goo Hyun; Oh, Joo Han; Lee, Young Ho; Gong, Hyun Sik

2011-04-01

384

Postpneumococcal Moyamoya syndrome case report and review of the postinfective cases  

PubMed Central

Our aim was to describe a patient who experienced a postpneumococcal Moyamoya syndrome (MMS), with a great involvement of the posterior cerebral circulation, and to review the MMS postinfective cases. A 55-year-old Pakistani man with a history of pneumococcal meningitis 3?months before developed acute headache, left otalgia and body paresthesiae. Brain CT showed a right occipital ischaemic lesion. Seven days later, he developed acute left haemianopsia, haemiplegia, haemineglect and ‘frontal’ cognitive and behavioural symptoms. A second brain CT and MRI disclosed an increase in the occipital lesion and the appearance of a further one in the right frontal lobe. Cerebral CT and MRI-angiography were consistent with Moyamoya vessel alterations. Treatment with antiplatelets, methylprednisolone, followed by prednisone tapering, and motor rehabilitation began. Six months later, no relapses had occurred. Our case represents a delayed manifestation of postmeningitis vasculopathy. Meningitis may represent a risk factor for developing a disabling cerebrovascular disease like MMS. PMID:23391943

Pinardi, Federica; Stracciari, Andrea; Spinardi, Luca; Guarino, Maria

2013-01-01

385

Case Study: Sick Building Syndrome in a Humid Climate  

E-print Network

an investigation plan. Collectively the nonspecificity of the responses tended to indicate building-related problems often described by the term ''Sick Building Syndrome" (SBS). Based on the questionnaire responses, the walkthrough observations, and the lack...

Shaughnessy, R. J.; Levetin, E.

1990-01-01

386

Intrathecal ziconotide for complex regional pain syndrome: seven case reports.  

PubMed

Ziconotide is a nonopioid analgesic currently indicated as monotherapy, but frequently used in combination with opioids, for the management of severe chronic pain in patients for whom intrathecal (IT) therapy is warranted and who are intolerant of, or whose pain is, refractory to other treatments. There is a paucity of information regarding ziconotide use in patients with complex regional pain syndrome (CRPS). Seven cases in which IT ziconotide was used in patients with CRPS were analyzed. All patients (4 male, 3 female; age range, 14 to 52 years) had experienced inadequate pain relief with multiple conventional and interventional treatments. Three patients received ziconotide monotherapy exclusively; 4 patients received ziconotide monotherapy initially, then combination IT therapy. The mean ziconotide dose was 5.2 mcg/d (range, 0.5 to 13 mcg/d) at initiation and 24.7 mcg/d (range, 0.06 to 146 mcg/d) at the last available assessment. The mean duration of ziconotide therapy was 3.1 years (range, 26 days to 8 years). At ziconotide initiation, the mean visual analog scale (VAS) score was 89.3 mm (range, 75 to 100 mm); VAS scores decreased by a mean of 47.5% (range, 5% to 100%) at last assessment. Of the 5 patients who experienced substantial improvement in pain, edema, skin abnormalities, and/or mobility with ziconotide therapy, 2 have discontinued ziconotide and are pain free. Another patient experienced marked reversal of both edema and advanced skin trophic changes. Adverse events included urinary retention, depression, anxiety, and hallucinations. Adverse events generally resolved spontaneously, with treatment, or with ziconotide discontinuation/dose reduction. Although further studies are required, ziconotide holds promise as an effective treatment for CRPS. PMID:19500276

Kapural, Leonardo; Lokey, Kristi; Leong, Michael S; Fiekowsky, Sharon; Stanton-Hicks, Michael; Sapienza-Crawford, Anne J; Webster, Lynn R

2009-01-01

387

A case of caudal regression syndrome: walking or sitting?  

PubMed Central

Caudal regression syndrome (CRS) is a congenital disorder which is seen vertebral anomalies in varying degrees from lower thoracic spineto the level of the coccyx. We present a case of CRS which is not intended operation for orthopedic deformities considering functionality. 2, 5 year-old girl referred to our clinic with complaints about walking disability, knee and foot deformities. Patient's mother with unregulated diabetes did not have a history of drug use, radiation exposure and serious illness during pregnancy. Diagnosis had been put during antenatal follow-ups. On physical examination, her lower extremities were hypoplastic and had no muscle activity. Her hips were flexed and abducted, but did not have contractures. Her knees had 75 degrees of flexion contractures with popliteal webs and feet had equinovarus deformity. Frog belly was present due to abdominal muscles weakness. Also hypoplasic labia majora has been identified. In lumbar MRI, spinal cord was terminated at 6th thoracic (T6) vertebrae and the last solid vertebrae level was at T10. Patient who has been following by urology with clean intermittent catheterization had also severe urological problems including horseshoe kidney, neurologic bladder, vesico-ureteral reflux and grade 2 hydronephrosis. Orthopedic consultation was made for her deformities. They decided that ambulation unexpected patient's knee flexion contractures were helping sitting balance. Because of this operation was not considered. Prognosis, treatment options, strength exercises for upper extremities, skin care were told to parents and patient was taken to follow. CRS is a rare congenital abnormality which is associated with orthopedic deformities, as well as urological, anorectal and cardiac malformations. Treatment requires a multidisciplinary approach. It should not be forgotten that purpose of rehabilitation is not to correct all deformities but increase the functionality of everyday life. PMID:25400859

Bicakci, Irem; Turgut, Selin Turan; Turgut, Bekir; Icagasioglu, Afitap; Egilmez, Zeliha; Yumusakhuylu, Yasemin

2014-01-01

388

Peutz-Jeghers syndrome without mucocutaneous pigmentation: a case report  

PubMed Central

Peutz–Jeghers syndrome is a rare condition characterized by mucocutaneous pigmentation, polyposis and an increased cancer risk at a number of gastrointestinal and extra intestinal organs. We present a patient with a history of gastrointestinal bleeding with no mucocutaneous pigmentation. Upper and lower gastrointestinal endoscopy revealed multiple polyps located in the deuodenum and colon. Histopathological evaluation of the polyps revealed hamartomatous polyps of Peutz-Jeghers syndrome. PMID:24834220

Mozaffar, Mohammad; Sobhiyeh, Mohammad Reza; Hasani, Mohammad

2012-01-01

389

Nutcracker Syndrome Accompanying Pelvic Congestion Syndrome; Color Doppler Sonography and Multislice CT Findings: A Case Report  

PubMed Central

Nutcracker syndrome (NCS) is a rare pathology, caused by compression of the left renal vein (LRV) between the abdominal aorta (AA) and the superior mesenteric artery (SMA), due to reduction of the angle between AA and SMA. This leads to LRV varices, left gonadal vein varices and therefore, the pelvic congestion syndrome. For this reason, coexistence of NCS and pelvic congestion syndrome has been described. It manifests by hematuria, proteinuria, and nonspecific pelvic pain secondary to pelvic congestion, dyspareunia and persistent genital arousal. We report a 27-year-old woman who experienced hematuria and left flank pain. The diagnosis of NCS accompanied by pelvic congestion syndrome was missed initially, but later on the diagnosis was made by color Doppler ultrasound, abdominal computed tomography (CT) and CT angiography that were later performed. She refused interventional and surgical treatments, and was lost to follow up. PMID:25035694

Inal, Mikail; Karadeniz Bilgili, Mihrace Yasemin; Sahin, Safa

2014-01-01

390

Swyer-James Syndrome—Unilateral Hyperlucent Lung SyndromeA Case Report and Review  

Microsoft Academic Search

Swyer-James syndrome is a pulmonary condition acquired following bronchiolitis obliterans early in life. Clinically characterized by repeated bouts of pulmonary infections, Swyer-James syndrome is characterized radiographically by a unilateral small, hyperlucent lung that demonstrates diminished arterial supply to the involved lung, air-trapping, and bronchiectasis. Radioimaging procedures may reveal otherwise unsuspected bilateral involvement. A 14-year-old Caucasian female with classic findings of

Terri L. Daniel; John H. Woodring; H. David Wilson

1984-01-01

391

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

PubMed Central

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

2014-01-01

392

Opsoclonus-myoclonus syndrome attributable to West Nile encephalitis: a case report  

PubMed Central

Introduction Opsoclonus-myoclonus syndrome is a very rare neurological disorder associated with some viral infections and exceptionally with the West Nile virus. Case presentation A 57-year-old Caucasian woman presented with fever, dizziness, balance difficulties, vomiting, dancing eye, altered speech, tremor, generalized myoclonus and failure to rise or stand. Our objective is to describe a patient with West Nile infection, which was identified both in her serum and cerebrospinal fluid and was associated with encephalitis and opsoclonus-myoclonus-ataxia syndrome. Conclusions Opsoclonus-myoclonus-ataxia syndrome continued for 4 weeks after onset, when she died. There was no evidence for any other etiology responsible for her opsoclonus-myoclonus syndrome. Her opsoclonus-myoclonus syndrome appeared associated with West Nile encephalitis and had an unfavorable evolution despite treatment. PMID:24968889

2014-01-01

393

An unexpected case of Ramsay hunt syndrome: case report and literature review  

PubMed Central

Background Ramsay Hunt Syndrome (RHS) is a rare, severe complication of varicella zoster virus (VZV) reactivation in the geniculate ganglion. Facial paralysis is one of the features and without treatment, it fully recovers in as little as 20% of cases; this is much improved if treatment is started within 72 hours. This case is noteworthy in that coexistence of facial palsy with cervical dermatome involvement by VZV is not typical of RHS. Yet, it has been reported before. Case presentation A 54 year old Caucasian woman presented with right ear discomfort, difficulty hearing and a vesicular rash along the pinnae, 8 days after the eruption of a similar rash in the right C2-C4 dermatomes. 2 days later, she awoke with a partial right-sided facial paralysis, which improved with treatment (valacyclovir and prednisone). Conclusions This case is most pertinent to Family Practice, Otolaryngology and Neurology. It highlights the possible co-existence of RHS with cervical VZV reactivation and encourages physicians to monitor for this complication even before geniculate ganglion reactivation occurs. RHS is a rare disease that can present with vague symptoms. A high index of suspicion and close follow up are essential. Early intervention with antivirals and corticosteroids has shown significantly improved outcomes in these patients. PMID:23985267

2013-01-01

394

Generalized epilepsy in a patient with mosaic Turner syndrome: a case report  

PubMed Central

Introduction Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic–clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. Case presentation A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic–clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. Conclusions There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies. PMID:24694237

2014-01-01

395

A study of 113 cases of genital ulcerative disease and urethral discharge syndrome with validation of syndromic management of sexually transmitted diseases  

PubMed Central

Aims: To validate syndromic management of cases having genital ulcerative disease (GUD) and urethral discharge syndrome (UDS). Materials and Methods: A study of 113 cases of GUD and UDS was carried out in the Department of Skin and VD from March 2011 to August 2012. All cases having history and clinical evidence suggestive of GUD and UDS were included in the study. Results: According to syndromic diagnosis, GUD herpetic syndrome was the most common 71 (62.27%), followed by GUD non-herpetic syndrome 25 (21.89%) and UDS 17 (14.91%). Out of 71 cases clinically diagnosed as GUD herpetic, 16 (22.53%) were validated by immunoglobulin M (IgM) anti herpes simplex virus-2 (HSV) serology, 14 (19.71%) by Tzanck smear and 3 (4.22%) by both. 24 (33.80%) were Reactive plasma Reagin (RPR)(<1:8) reactive and trepenomma palidum haem-agglutination positive. Out of total 25 clinically diagnosed GUD non herpetic cases, 22 (88%) were validated by laboratory tests Out of 17 cases of UDS, 15 (88%) were validated by smear. Conclusion: Sensitivity and specificity of clinically diagnosed syndrome is not so high particularly for GUD herpetic syndrome Continuous monitoring of diagnostic component of syndromic approach is key to success of STD control program. PMID:24958984

Bhavsar, Chintan; Patel, Raksha M.; Marfatia, Yogesh

2014-01-01

396

A case of antenatal Bartter syndrome with sensorineural deafness.  

PubMed

Bartter syndrome type IV, also known as Bartter syndrome with sensorineural deafness (BSND), is caused by loss-of-function mutations in the BSND gene, which encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Patients with BS IV have a highly variable clinical phenotype. This report concerns a Korean male patient with antenatal Bartter syndrome due to a homozygous BSND p.G47R mutation, who presented with severe perinatal symptoms followed by a relatively benign course with preserved renal function after early infancy. In addition, the clinical features and the laboratory data of the patient were compared with those of previously reported patients with the same mutation. PMID:21158220

Lee, Hyun Seung; Cheong, Hae Il; Ki, Chang-Seok

2010-10-01

397

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

PubMed

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

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

2014-12-01

398

A case of Alagille syndrome complicated by intraocular lens subluxation and rhegmatogenous retinal detachment  

PubMed Central

This case report describes a case of Alagille syndrome with developing intraocular lens subluxation and rhegmatogenous retinal detachment 4 years after cataract surgery. A 15-year-old female patient with Alagille syndrome-associated cataracts in both eyes underwent phacoemulsification aspiration and intraocular lens implantation. Four years postoperative, intraocular lens subluxation developed in her left eye. For treatment, extraction of the dislocated intraocular lens, anterior vitrectomy, and intraocular lens fixation was performed. Three weeks later, the patient developed rhegmatogenous retinal detachment, which was well-treated by pars plana vitrectomy. Cataract surgery needs to be performed carefully in patients with Alagille syndrome due to the weakness of the zonule of Zinn. Careful postoperative observation is necessary for patients with Alagille syndrome who have undergone intraocular surgery in order to facilitate early detection of a possible rhegmatogenous retinal detachment. PMID:23898221

Fukumoto, Masanori; Ikeda, Tsunehiko; Sugiyama, Tetsuya; Ueki, Mari; Sato, Takaki; Ishizaki, Eisuke

2013-01-01

399

Oculo-facio-cardio-dental syndrome: report of a rare case.  

PubMed

Oculo-facio-cardio-dental (OFCD) syndrome is an extremely rare condition with ocular, facial, cardiac, and dental abnormalities. It is often unrecognized by many medical and dental professionals. Only 17 cases have been documented to date. Because all reported patients have been female, it has been suggested that OFCD syndrome is an X-linked dominant trait. Isolation and diagnosis of this syndrome is hard for the medical specialists. Only unique and specific findings are observed in dental and skeletal structures, which can easily be diagnosed by an orthodontist or general dentist. Therefore, it was the aim of this study to present a new case of this syndrome and to evaluate it from an orthodontic perspective in order to call the attention of orthodontists to this rare anomaly. PMID:16448290

Türkkahraman, Hakan; Sario?lu, Mehmet

2006-01-01

400

A rare case of 3C disease: Ritscher–Schinzel syndrome presenting with recurrent talipes equinovarus  

PubMed Central

INTRODUCTION Club foot (CF) is characterized by multiple deformities such as varus, adductus and internal rotation of the forefoot. It is well-known and a frequent congenital disorder. CF can concurrently be seen with several diseases but it can rarely manifest as a component of any other syndrome. Ritscher–Schinzel syndrome, or cranio-cerebello-cardiac syndrome, is rarely seen and has autosomal recessive inheritance. It is characterized by cranio-facial, cerebellar and cardiac abnormalities. We report a case diagnosed as Ritscher–Schinzel syndrome concurrent with persistent CF. PRESENTATION OF CASE A two-year-old boy with persistent CF and concurrent congenital hip dysplasia. Despite successful serial casting and subsequent achilloplasty a clinical relapse was observed in our patient. After a detailed phenotypic evaluation, genetical tests and imaging technique the patient was diagnosed 3C Ritscher–Schinzel syndrome. DISCUSSION A comprehensive literature review did not show any reports about concurrent hip dysplasia and clubfoot in Ritscher–Schinzel syndrome. We report that CF may be associated with rare genetical abnormalities. CONCLUSION With this report we would like to raise awareness about the possible association of persistent CF with this rare genetical disorder, Ritscher–Schinzel syndrome. It should be included in differential diagnosis of patients with persistent CF. PMID:25434475

Konya, Mehmet Nuri; Elmas, Muhsin; Ergino?lu, Sad?k Emre; Ye?il, Murat

2014-01-01

401

Carpal tunnel syndrome in patient with hemihypertrophy: case report.  

PubMed

Carpal tunnel syndrome is a common condition; however, it has not been previously reported in patients with hemihypertrophy. A 67-year-old woman with left-sided hemihypertrophy presented with carpal tunnel syndrome of the left hand. Magnetic resonance imaging showed enlargement of the median nerve proximal to the transverse carpal ligament. Carpal tunnel decompression was performed, and pain was immediately relieved by decompression of the carpal tunnel. At the six-month follow-up examination, the patient experienced relief from numbness and improvement in thenar muscle atrophy was noted. PMID:24156588

Shimoe, Takashi; Taniguchi, Yasunori; Yoshida, Munehito

2013-01-01

402

A case of the Roussy-Levy syndrome family.  

PubMed

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

Bartosik-Psujek, H; Stelmasiak, Z

2001-01-01

403

Pulmonary and central nervous system involvement in Sweet's syndrome: a very rare case report.  

PubMed

Sweet's syndrome is a multisystem inflammatory disorder characterized by painful, erythematous plaques and aseptic neutrophilic infiltration of various organs. The absence of vasculitis is a histological criterion for diagnosis, but recent reports suggest that vasculitis can occur in Sweet's syndrome. Involvement of the central nervous system and the pulmonary system is very rare. In this case study we describe a chronic alcoholic man with Sweet's syndrome associated with acute-onset encephalitis and severe pulmonary involvement. The patient's symptoms responded dramatically to steroid treatment, and notably, a skin biopsy of his lesions showed vasculitis. PMID:18703859

Aydemir, Hande; Oztoprak, Nefise; Celebi, Güven; Altinyazar, Cevdet; Barut, Figen; Piskin, Nihal; Akduman, Deniz

2008-01-01

404

Lemierre Syndrome—Should We Anticoagulate? A Case Report and Review of the Literature  

PubMed Central

Lemierre syndrome is an uncommon condition classically described in acute oropharyngeal infection with septic thrombophlebitis of the internal jugular vein and metastatic septic embolism particularly to the lungs. It is commonly described in young healthy adults with isolation of Fusobacterium necrophorum. We describe a case of Lemierre syndrome in a 50-year-old man with newly diagnosed diabetes mellitus presenting with a neck abscess secondary to Klebsiella pneumoniae. Our patient made good recovery to appropriate antimicrobial therapy, prompt surgical drainage, and anticoagulation. Anticoagulation remains controversial and we review the literature for its role in Lemierre syndrome. PMID:24436600

Phua, C.K.; Chadachan, V.M.; Acharya, R.

2013-01-01

405

Ventricular septal defect and Swyer-James (Macleod's) syndrome together: a case report.  

PubMed

Swyer-James (MacLeod's) syndrome is a rare entity that is characterized by the hyperlucent appearance of one or more lobes of one lung, diminished ipsilateral hilar shadow and hardly visible arterial structure on chest radiography. Ventricular septal defect is the most common childhood congenital heart defect and, if left untreated, this will result to irreversible pulmonary hypertension, reversing of the shunt and Eisenmenger's syndrome. In this case report, we describe a 19-year-old female patient who had diagnosis of VSD and Swyer-James syndrome at the same time. PMID:16854480

Demirkan, Burcu; Guray, Yesim; Guray, Umit; Korkmaz, Sule

2006-10-26

406

Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature.  

PubMed

The combination of lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis, bilateral cleft lip and palate, and oligodontia comprises the blepharo-cheilo-dontic (BCD) syndrome. This combination has been found sporadically or with positive family history and inherited as an autosomal dominant condition with variable expression. We described a Saudi boy with the cardinal signs consistent with the BCD syndrome. In addition to the common components of BCD syndrome that involve eyelids, lip, and teeth abnormalities, this patient is the third reported BCD case with imperforate anus, the second with thyroid agenesis, and the first with lumbosacral meningomyelocele. PMID:24719364

Ababneh, Farouq K; Al-Swaid, Abdulrahman; Elhag, Ahmed; Youssef, Talaat; Alsaif, Saif

2014-06-01

407

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

PubMed

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

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

2015-05-01

408

[Progressive cutaneous and pulmonary lesions without infectious etiology: two cases reports of sweet syndrome with pulmonary involvement].  

PubMed

Sweet syndrome is a non infectious febrile disease with a neutrophilic infiltrate of dermis. Extracutaneous involvement can occur. We report two cases of Sweet syndrome with cutaneous and pulmonary involvement and give a short review of the literature of pulmonary involvement in Sweet syndrome. PMID:25228576

Lang, Noémie; Vernez, Maxime; Vollenweider, Peter; Pasche, Antoine

2014-09-17

409

Lower leg compartment syndrome following prolonged orthopedic surgery in the lithotomy position -A case report-  

PubMed Central

Surgical procedures necessitating the prolonged use of the lithotomy position can be associated with neuromuscular dysfunction. Compartment syndrome of the lower leg is a grave complication which, if unrecognized, can lead to either permanent neuromuscular dysfunction or limb loss. We report a case of compartment syndrome of lower leg that occurred in male patient aged 20 years after 380 minutes arthroscopic surgery in the lithotomy position. PMID:21286459

Chung, Jin Hun; Park, Jin Hyung; Kim, Chun Sook; Kang, Kyu Sik; Yoo, Sie Hyeon; Chung, Ji Won; Kim, Nan Seol; Lee, Seung Jin

2010-01-01

410

Successful Management of Pregnancy with Nephrotic Syndrome due to Preexisting Membranous Glomerulonephritis: A Case Report  

Microsoft Academic Search

The influence of membranous glomerulonephritis (MGN) on maternal and fetal outcome is controversial, as is the effect of pregnancy on the course of preexisting nephrotic syndrome. We report a case of successful management of a pregnancy with preexisting severe nephrotic syndrome due to biopsy-proven primary MGN. Our patient became pregnant in a non-compliance period, discontinued the nephrological follow-up program and

Andras Sebestyen; Szabolcs Varbiro; Levente Sara; Gyorgy Deak; Lorant Kerkovits; Istvan Szabo; Istvan Kiss; Ferenc Paulin

2008-01-01

411

Physiopathogenic Investigations in a Case of Familial Stiff-Skin Syndrome  

Microsoft Academic Search

Background: Stiff-skin syndrome (SSS) is a rare cutaneous syndrome characterized by stony-hard skin and limitation of joint mobility. Its cause is still unknown. Objective: Biological investigations were performed in a new case of SSS. Methods: Collagen production and DNA biosynthesis were studied from fibroblast culture. Proinflammatory cytokines (TNF-?, IL-6 and TGF-?2) were measured in the patient’s serum. Results were compared

M. A. Richard; J. J. Grob; N. Philip; J. Rey; A. Chamson; J. L. Mege; L. Andrac; F. Faure; N. Basseres; J. J. Bonerandi

1998-01-01

412

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

PubMed Central

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.

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

2015-01-01

413

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

PubMed Central

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable phenotypic expression. It presents with characteristic facial appearance enabling it to be easily recognizable. A case of a 10-year-old girl having TCS is briefly described in this article. A review of the etiology, clinical features, differential diagnosis, and treatment options are also discussed. PMID:25395774

Renju, Raj; Varma, Balagopal R.; Kumar, Suresh J.; Kumaran, Parvathy

2014-01-01

414

Spontaneous Caecal Perforation Associated with Ogilvie's Syndrome Following Vaginal Delivery - A Case Report.  

PubMed

Acute pseudo-obstruction of the large bowel, Ogilvie's syndrome, can occur in the postpartum period following caesarean section which can result in caecal dilatation and may progress to perforation. This is quiet rare following normal vaginal delivery. Only two previous reports have been found in the English literature. We report a case of Ogilvie's syndrome with caecal perforation following normal vaginal delivery. PMID:25121027

E, Harish; Vk, Sundeep; Kola, Sivasai Krishnaprasad; Kg, Dharma Kumar

2014-06-01

415

Spontaneous Caecal Perforation Associated with Ogilvie’s Syndrome Following Vaginal Delivery – A Case Report  

PubMed Central

Acute pseudo-obstruction of the large bowel, Ogilvie’s syndrome, can occur in the postpartum period following caesarean section which can result in caecal dilatation and may progress to perforation. This is quiet rare following normal vaginal delivery. Only two previous reports have been found in the English literature. We report a case of Ogilvie’s syndrome with caecal perforation following normal vaginal delivery. PMID:25121027

VK, Sundeep; Kola, Sivasai Krishnaprasad; KG, Dharma Kumar

2014-01-01

416

Popliteal entrapment syndrome. A systematic review of the literature and case presentation  

PubMed Central

Summary Popliteal artery entrapment syndrome (PAES) is rare in young adults. Claudication of the young patient, which is often overlooked, is a very rare symptom for orthopedic surgeons. In elder patients, the physician might expect atherosclerotic claudication, however in young patients, popliteal artery entrapment syndrome (PAES) should be considered as a possibility in the cases of claudication. Here, an unusual presentation of an uncommon disease that is not widely known by orthopedic surgeons is reported. PMID:25332925

Gokkus, Kemal; Sagtas, Ergin; Bakalim, Tamer; Taskaya, Ertugrul; Aydin, Ahmet Turan

2014-01-01

417

Acute Anterior Thigh Compartment Syndrome Revisited: A Case Report and Review of Literature  

Microsoft Academic Search

We present a rare case of acute anterior compartment syndrome of the thigh in a rugby player with no history of trauma during\\u000a the game. Decompressive fasciotomy with subsequent closure of the wound resulted in good outcome. Acute compartment syndrome\\u000a of the thigh should be suspected following vigorous exercise and fasciotomy is to be performed on urgent basis.

Himanshu Wadhawan; Vishal Upadhyay; Adel Sabboubeh; Haydar A. J. Al Hussainy; Sanjeev Madan

2007-01-01

418

A Rare Case of Large Epididymal Cyst in Androgen Insensitivity Syndrome Removed Laparoscopically  

Microsoft Academic Search

Androgen insensitivity syndrome is a disorder of sexual differentiation with 46XY karyotype. The gonad is at risk (33% by 50 years of age) for development of malignant tumors. Hence, gonadectomy is warranted. We present a case of a 22-year-old woman diagnosed with androgen insensitivity syndrome during investigation of primary amenorrhea. Ultrasonography showed intraabdominally-located gonads, with a large, nontender cyst of

Alka Kriplani; S. Savithrisowmya; Nutan Agarwal; Pradeep Garg; Deepa Maheswari; A. C. Ammini; K. D. Anand Rajan

2009-01-01

419

Laugier–Hunziker syndrome: a report of three cases and literature review  

PubMed Central

Laugier–Hunziker syndrome (LHS) is an acquired pigmentary condition affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. There is neither malignant predisposition nor underlying systemic abnormality associated with LHS. Herein, we present three uncommon cases of LHS with possibly new feature of nail pigmentation, which were diagnosed during the past 2 years. We also review the clinical and histological findings, differential diagnosis, and treatment of the syndrome in published literature. PMID:23174847

Wang, Wen-Mei; Wang, Xiang; Duan, Ning; Jiang, Hong-Liu; Huang, Xiao-Feng

2012-01-01

420

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

PubMed

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

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

1991-12-01

421

Colonic Volvulus Associated with Chilaiditi’s Syndrome: Report of a Case  

Microsoft Academic Search

Hepatodiaphragmatic interposition of the intestine, known as Chilaiditi’s syndrome, is a rare and often asymptomatic anomaly, typically found as an incidental radiographic sign. We report a case of Chilaiditi’s syndrome associated with transverse colon volvulus, predisposed by segmental agenesis of the right lobe of the liver. A 45-year-old man presented with a 2-day history of abdominal pain, nausea, vomiting, and

Yavuz Kurt; Sezai Demirbas; Gökhan Bilgin; Yüksel Aydin; Levhi Akin; Mehmet Yildiz; Tuncay Çelenk

2004-01-01

422

De Quervain's syndrome associated with osteopoikilosis: a case report and review of the literature.  

PubMed

Osteopoikilosis is a rare, usually asymptomatic, autosomal-dominant bone disorder, which is generally diagnosed incidentally on X-ray. De Quervain's syndrome is a disorder characterized by pain on the radial (thumb) side of the wrist, impairment of thumb function and thickening of the ligamentous structure covering the tendons in the first dorsal compartment of the wrist. In this case report, we present a young woman with De Quervain's syndrome associated with osteopoikilosis. PMID:19856179

Kaparov, Asylbek; Uludag, Murat; Sari, Hidayet; Akarirmak, Ulkü

2011-06-01

423

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

ERIC Educational Resources Information Center

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)

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

1973-01-01

424

Reticular erythematous mucinosis syndrome. Report of a case with positive immunofluorescence.  

PubMed

We report a case with the clinical and histological features of the reticular erythematous mucinosis syndrome (REM), in which there was moderate, continuous, fine, granular, IgM deposition along the basal layer. Similar direct immunofluorescence results have been reported in only two previous cases. PMID:9536545

Del Pozo, J; Martínez, W; Almagro, M; Yebra, M T; García-Silva, J; Fonseca, E

1997-09-01

425

Dengue-associated hemophagocytic syndrome in a Japanese traveler: a case report.  

PubMed

Hemophagocytic syndrome (HPS) can develop as a complication of dengue in rare cases, but its relationship with dengue is not well known. We report a case of dengue-associated HPS with liver involvement and coagulopathy. The patient, a Japanese female traveler who had recently returned from Thailand, had severe complications of dengue infection, but she recovered fully with symptomatic treatment. PMID:25159130

Kobayashi, Ken-ichiro; Hikone, Mayu; Sakamoto, Naoya; Iwabuchi, Sentaro; Kashiura, Masahiro; Takasaki, Tomohiko; Fujita, Hiroshi; Ohnishi, Kenji

2015-01-01

426

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

ERIC Educational Resources Information Center

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…

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

2006-01-01

427

Fournier's Syndrome in InfantsA Review of Cases from Ibadan, Nigeria  

Microsoft Academic Search

Six children aged between 3 and 12 weeks were treated for Fournier's syndrome in our hospital between 1972 and 1979. Circumcision, diaper rash, and perianal skin abscesses were suspected as portals of entry for pathogens initiating the lesions. In two cases Staphylococcus aureus was isolated. Medical treatment of the gangrenous area proved successful in all cases, and the children survived

Adetunji A. Adeyokunnu

1983-01-01

428

Three cases of spontaneous direct carotid cavernous fistulas associated with Ehlers-Danlos syndrome type IV  

Microsoft Academic Search

We are reporting three cases of spontaneous direct carotid cavernous fistulas (CCFs) associated with Ehlers-Danlos syndrome (EDS) out of a series of 147 direct CCFs. The internal carotid artery could be preserved in only one case. Two patients had severe bilateral irregularities of caliber of both internal carotid arteries. Two patients had recurrence of their symptoms after a first balloon

Gerard M. Debrun; Victor A. Aletich; Neil R. Miller; Robert J. W. DeKeiser

1996-01-01

429

A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome  

Microsoft Academic Search

Objectives: The purpose of this study was to demonstrate that a quantitative, multivariate case definition of the fetal alcohol syndrome (FAS)3 facial phenotype could be derived from photographs of individuals with FAS and to demonstrate how this case definition and photographic approach could be used to develop efficient, accurate and precise screening tools, diagnostic aids and possibly surveillance tools. Study

Susan J. Astley; Sterling K. Clarren

1996-01-01

430

A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome  

Microsoft Academic Search

OBJECTIVES: The purpose of this study was to demonstrate that a quantitative, multivariate case definition of the fetal alcohol syndrome (FAS) facial phenotype could be derived from photographs of individuals with FAS and to demonstrate how this case definition and photographic approach could be used to develop efficient, accurate, and precise screening tools, diagnostic aids, and possibly surveillance tools. STUDY

Susan J. Astley; Sterling K. Clarren

1996-01-01

431

Sudden death in Williams syndrome: Report of ten cases  

Microsoft Academic Search

Williams syndrome (WS) is a recognizable pattern of malformation with mental retardation, mild growth deficiency, characteristic facies and temperament, and cardiovascular disease. Sudden death is a recognized complication of WS; however, it is thought to be rare. The clinical features of 10 children with WS who died suddenly are reported here, doubling the number of unexpected deaths reported in the

Lynne M. Bird; Glenn F. Billman; Ronald V. Lacro; Robert L. Spicer; Lena K. Jariwala; H. Eugene Hoyme; Rolando Zamora-Salinas; Colleen Morris; David Viskochil; Maureen J. Frikke; Marilyn C. Jones

1996-01-01

432

The Passive in Adolescents with Down Syndrome: A Case Study  

ERIC Educational Resources Information Center

This paper shows that some individuals with Down syndrome are capable of producing, imitating (repeating) and comprehending passive sentences, even though group studies indicate that this is not the norm. Experimental tests of elicited production, repetition and comprehension of passive and active sentences applied in ten adolescents with Down…

Rubin, Maraci Coelho de Barros Pereira

2006-01-01

433

Swyer–James syndrome with myocardial bridge: a case report  

Microsoft Academic Search

Swyer–James syndrome is an uncommon disease with unknown aetiology. It is generally discovered on a chest radiograph as increased translucency involving one hemithorax because of diminished vascular markings. Pulmonary vascularization on the affected side is greatly reduced leading to radiological translucency. Myocardial bridging describes an angiographic entity, which is any degree of systolic narrowing of a coronary artery observed in

Mehmet Birhan Yilmaz; Serkan Topologlu; Yesim Akin; Umit Guray; Sule Korkmaz

2003-01-01

434

Type IV Bartter syndrome: report of two new cases.  

PubMed

Bartter syndrome with sensorineural deafness (type IV Bartter syndrome) is a subtype of this tubular disease, and is due to mutations in the BSND gene. Out of a population of 92 patients with Bartter syndrome, five suffered from mild to severe hypoacusia and were selected for mutational screening. A homozygous mutation in the BSND gene was found in two female patients. The first patient was found to have a substitution in intron 1 donor splice site at position +5 (c.420+5G>C), whereas the second patient has a homozygous 3G>A substitution leading to the loss of the start codon for the translation of the BSND mRNA. The clinical courses of these two patients were remarkable for severe polyhydramnios, massive renal salt and water wasting, severe neonatal hypotonia, poor growth and unresponsiveness to prostaglandin inhibitors. The diuretic responses to furosemide and to hydrochlorothiazide were tested under KCl supplementation in one patient. A lack of response to both drugs suggested that inhibition of NaCl reabsorption in type IV Bartter syndrome is not restricted to the thick ascending limb of Henle. In one patient, a combined therapy with indomethacin and captopril was needed to discontinue intravenous fluids and improve weight gain. PMID:16583241

Zaffanello, Marco; Taranta, Anna; Palma, Alessia; Bettinelli, Alberto; Marseglia, Gian Luigi; Emma, Francesco

2006-06-01

435

Pulsed radiofrequency treatment in a case of Eagle's syndrome.  

PubMed

Eagle (Arch Otolaryngol. 1937;25:584 and Arch Otolaryngol. 1949;49:490) first identified elongation of the styloid process and ossification of the stylohyoid ligament as a cause of orofacial pain. The elongated styloid process presses on the internal carotid artery and adjacent structures, including branches of the glossopharyngeal nerve and this produce orofacial pain. Some authors define an elongated styloid process as longer than 4?cm because this length is associated with an increase in the incidence of Eagle's syndrome. The syndrome is diagnosed by exclusion (Walkman SD. Atlas of Uncommon Pain Syndromes. Philadelphia: Elsevier Science; 2003), and the diagnosis is confirmed by radiological studies and computed tomography. Treatment can be divided into medical, interventional, and surgical techniques. We report a patient with symptoms of glossopharyngeal neuralgia, who was diagnosed with Eagle's syndrome on the basis of diagnostic imaging. The length of the stylohyoid process was 63?mm on the left side and 64?mm on the right. Treatment was performed by applying pulsed radiofrequency to the glossopharyngeal nerve with satisfactory results. The technique was performed twice on an outpatient basis, produced no complications or side effects, and proved effective in the short and medium term in decreasing the intensity of pain. PMID:23057728

Mollinedo, Fernando T; Esteban, Sonia L T; Vega, Cristina G; Orcasitas, Ana C; Maguregi, Antón A

2013-06-01

436

Moyamoya syndrome associated with Graves’ disease: a case series study  

PubMed Central

Objective The aim of this study was to describe the clinical and radiological findings of patients with moyamoya syndrome and Graves’ disease. Possible mechanisms predisposing these individuals to ischemic stroke are discussed. Methods We retrospectively analyzed 12 consecutive patients with both moyamoya syndrome and Graves’ disease. Moyamoya vasculopathy was diagnosed by digital subtract angiography or magnetic resonance angiography (MRA). The clinical characteristics, laboratory data, vascular radiological characteristics and outcome were reported. Results All patients were female and mean age was 33.33±12.65 years. Stenosis or occlusion of bilateral terminal internal carotid artery and/or proximal anterior/middle cerebral arteries was found in nine patients. Among them, three patients displayed asymmetrical stenosis. In addition, there were three patients with probable unilateral moamoya syndrome. Eleven patients presented with ischemic stroke and/or transient ischemic attack (TIA) and one with dizziness. Thyroid function tests demonstrated elevated thyroid hormone levels and suppressed thyroid stimulating hormone levels in all the patients with ischemic events. All patients received anti-thyroid therapy and two had recurrent ischemic attack after drug withdrawal. Conclusions Moyamoya syndrome associated Graves’ disease often presented with asymmetric stenosis or occlusion. We hypothesize cerebrovascular hemodynamic changes due to thyrotoxicosis contribute to the ischemic events. PMID:25333052

Zhou, Li-Xin; Wei, Yan-Ping; Li, Ming-Li; Xu, Wei-Hai; Gao, Shan; Cui, Li-Ying

2014-01-01

437

Rituximab for troublesome cases of childhood nephrotic syndrome.  

PubMed

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

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

2014-11-01

438

Rituximab for troublesome cases of childhood nephrotic syndrome  

PubMed Central

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

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

2014-01-01

439

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

PubMed Central

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

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

2014-01-01

440

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

Microsoft Academic Search

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

Muhammad Zeeshan; Farhan Ahmed; Darakhshan Kanwal; Qazi Khalid; Muhammad Ahmed

2009-01-01

441

Bilateral acute lupus pneumonitis in a case of rhupus syndrome.  

PubMed

Rhupus syndrome, the overlap of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), is an extremely uncommon condition. Organ damages found due to SLE are usually mild in rhupus. Lupus pneumonitis in rhupus syndrome has not been reported worldwide. We are reporting a 23-year-old female with bilateral symmetric erosive arthritis, oral ulcer, alopecia, polyserositis, anemia, leucopenia, positive RA-factor, anti nuclear antibody (ANA) and anti ds-DNA. She presented with acute onset dyspnea, high fever, chest pain, tachycardia, tachypnea, hypoxia and respiratory alkalosis. High resolution computed tomography (HRCT)-thorax showed bilateral, basal consolidation with air bronchogram. Repeated sputum and single broncho alveolar lavage (BAL) fluid examination revealed no organism or Hemosiderin-laden macrophage. The diagnosis of rhupus was confirmed by combined manifestations of RA and SLE, and the diagnosis of acute lupus pneumonitis was established by clinico-radiological picture and by excluding other possibilities. PMID:22919171

Sarkar, Supriya; Saha, Kaushik

2012-07-01

442

Case report : recurrent piriformis syndrome after surgical release.  

PubMed

Piriformis syndrome is an uncommon condition characterized by sciatic nerve entrapment at the greater sciatic notch. Nonoperative treatment such as physical therapy, nonsteroidal antiinflammatory drugs, and local injections often results in relief of symptoms. For patients who do not benefit from nonoperative therapy, surgical exploration and decompression of the sciatic nerve has been effective. However, the success of surgery may be diminished by scar formation or hematoma in the anatomically restricted sciatic notch. We report two patients with piriformis syndrome who responded primarily to surgical decompression and had recurrent symptoms resulting from scar tissue formation in the sciatic notch. On revision surgery, polytetrafluoroethylene pledgets were placed around the sciatic nerve to avoid compression and entrapment by scar tissue. Both patients had satisfactory outcomes at 3 years followup. PMID:18264837

Kobbe, Philipp; Zelle, Boris A; Gruen, Garry S

2008-07-01

443

Parkinson's syndrome after closed head injury: a single case report  

PubMed Central

A 36 year old man, who sustained a skull fracture in 1984, was unconscious for 24 hours, and developed signs of Parkinson's syndrome 6 weeks after the injury. When assessed in 1995, neuroimaging disclosed a cerebral infarction due to trauma involving the left caudate and lenticular nucleus. Parkinson's syndrome was predominantly right sided, slowly progressive, and unresponsive to levodopa therapy. Reaction time tests showed slowness of movement initiation and execution with both hands, particularly the right. Recording of movement related cortical potentials suggested bilateral deficits in movement preparation. Neuropsychological assessment disclosed no evidence of major deficits on tests assessing executive function or working memory, with the exception of selective impairments on the Stroop and on a test of self ordered random number sequences. There was evidence of abulia. The results are discussed in relation to previous literature on basal ganglia lesions and the effects of damage to different points of the frontostriatal circuits.?? PMID:10084539

Doder, M; Jahanshahi, M; Turjanski, N; Moseley, I; Lees, A

1999-01-01

444

Role of ultrasound in posteromedial tarsal tunnel syndrome: 81 cases.  

PubMed

Posteromedial tarsal tunnel syndrome is a disorder affecting the tibial nerve or its branches. Diagnosis is established on the basis of physical examination and can be confirmed by electrophysiological evidence. However, diagnostic imaging is always required to identify the possible site of compression. High-resolution ultrasound (US) is playing an increasingly important role in the study of the nerves thanks to a series of advantages over magnetic resonance imaging, such as lower costs and widespread availability, high spatial resolution, fast examination using axial scans, dynamic and comparative studies, possibility of carrying out a study with the patient in the standing position, US Tinel sign finding, and the contribution of color/power Doppler US. We present the results obtained in a series of 81 patients who underwent US imaging between 2008 and 2013 due to posteromedial tarsal tunnel syndrome. PMID:24883135

Fantino, Olivier

2014-06-01

445

Effect of Cultural Themes on Forming Cotard’s Syndrome: Reporting a Case of Cotard’s Syndrome with Depersonalization and Out of Body Experience Symptoms  

PubMed Central

Objective: Cotard’s syndrome is a rare psychiatric syndrome. Its core symptom is nihilistic ideation or delusion. Case Report: A female patient with Cotard’s syndrome symptoms associated with out of body experience and depersonalization, and complicated grief was referred for evaluation. She believed that she was killed by a creature named "Aal" in the Persian folklore Conclusions: Cultural and superstitious beliefs could affect the forming of the complex constellation of the patient’s symptoms including Cotard’s syndrome symptoms. The resolution of symptoms might be achieved step by step. Declaration of interest: None. PMID:24644515

Ghaffari Nejad, Alireza; Mehdizadeh Zare Anari, Ali; Pouya, Fatemeh

2013-01-01

446

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

PubMed Central

The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous injury and subsequently these were confirmed on surgery. Although it is a rare syndrome, early diagnosis and treatment prevents permanent neurological deficits and improve patient's quality of life. PMID:20076781

2009-01-01

447

[Purple urine bag syndrome: Report of one case].  

PubMed

Purple urine bag syndrome is an uncommon but particularly striking phenomenon observed in people with urinary catheters and co-existent urinary tract infections. A chemical reaction between plastic and certain bacterial enzymes results in an intense purple urine color. We report a 72 year-old male with a cystostomy. A purple coloration of his urinary drainage bag and tubing was noted in the context of a urinary tract infection caused by Citrobacter freundii. PMID:25694296

Chassin-Trubert C, Anne-Marie

2014-11-01

448

Refeeding syndrome in Southeastern Taiwan: Our experience with 11 cases  

PubMed Central

AIM: To present our experience with refeeding syndrome in southeastern Taiwan. METHODS: We conducted a retrospective study during a 2-year period at the Mackay Memorial Hospital, Taitung Branch. We enrolled patients with very little or no nutrition intake for more than 10 d, a high risk group of refeeding syndrome, including those suffering from alcohol abuse, cancerous cachexia, chronic malnutrition, and prolonged starvation. RESULTS: A total of 11 patients (7 males, 4 females) with nasogastric feeding were included as having refeeding syndrome. Most of them had the symptoms of diarrhea, lethargy, and leg edema. The initial nutritional supplement was found to be relatively high in calories (1355.1 ± 296.2 kcal/d), high in protein (47.3 ± 10.4 gm/d), low in vitamin B1 (2.0 ± 0.5 mg/d), low in potassium (1260.4 ± 297.7 mg/d), and low in phosphorus (660.1 ± 151.8 mg/d). Furthermore, hypophosphatemia (2.4 ± 0.9 mg/dL) was noted during follow-up. Based on the suggestions of a dietician and a gastroenterologist, the clinical disorders of diarrhea, malaise and leg edema were significantly improved. The level of phosphate was also increased (3.3 ± 0.6 mg/dL). CONCLUSION: Refeeding syndrome is an overlooked and risky disorder that has some potentially fatal complications. Nasogastric feeding in nursing homes is an important risk factor for patients and deserves greater attention based on the initial results of this study. PMID:25132771

Chen, Li-Ju; Chen, Huan-Lin; Bair, Ming-Jong; Wu, Chia-Hsien; Lin, I-Tsung; Lee, Yuan-Kai; Chu, Cheng-Hsin

2014-01-01

449

Presence of emerinopathy in cases of rigid spine syndrome  

Microsoft Academic Search

Rigid spine syndrome (RSS) shows clinical similarities to Emery–Dreifuss muscular dystrophy (EDMD). Differential diagnosis between EDMD and RSS is essential because EDMD is often associated with life-threatening cardiomyopathy that can be cured by an implantation of a cardiac pacemaker. To determine if any of the patients with RSS had mutations of the emerin gene (responsible gene for X-linked EDMD or

Shinichiro Kubo; Toshifumi Tsukahara; Masakazu Takemitsu; Kim Bong Yoon; Hiroya Utsumi; Ikuya Nonaka; Kiichi Arahata

1998-01-01

450

Wolfram Syndrome: Case Report and Review of the Literature  

Microsoft Academic Search

Wolfram syndrome (WFS) is a rare diffuse neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus,\\u000a optic atrophy, deafness, and a wide variety of central nervous system abnormalities. Insulin-dependent diabetes mellitus with\\u000a optic nerve atrophy is a sufficient criterion for the diagnosis. WFS is a devastating disease for the patients and their families.\\u000a This study emphasizes the need for careful evaluation

?eyhmus Ari; U?ur Keklíkçí; ?hsan Çaça; Kaan Ünlü; Hasan Kayaba?i

2007-01-01

451

Mycoplasma pneumoniae associated opsoclonus–myoclonus syndrome in three cases  

Microsoft Academic Search

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

Benedikt Maria Huber; Susi Strozzi; Maja Steinlin; Christoph Aebi; Simon Fluri

2010-01-01

452

Cancer of the supernumerary ovary in Mayer-Rokitansty-Küster-Hauser Syndrome: A case report  

PubMed Central

Mayer-Rokitansty-Küster-Hauser (MRKH) syndrome is a Müllerian anomaly that presents with varying degrees of uterovaginal aplasia and is secondarily associated with cervicothoracic, auditory and skeletal anomalies. However, MRKH syndrome patients have normal and functional ovaries. A supernumerary ovary is an extremely rare form of an ectopic ovary and there are no reported cases of MRKH syndrome with cancer of the supernumerary ovary in the current literature. A 31-year-old female with a history of MRKH syndrome that was diagnosed 4 years previously presented with abdominal pain and a suspected malignant pelvic mass was identified. During the staging surgery, both ovaries were separated from the main mass, observed and removed. A third ovary was discovered in the pelvic mass and the diagnosis of primary ovarian cancer from the third ovary was confirmed by immunohistochemistry. We report the first known case of cancer of the supernumerary ovary in a patient with MRKH syndrome. Although both ovaries were confirmed to be normal in the patient with MRKH syndrome, we propose that an ovarian neoplasm should be considered in the diagnosis of a pelvic mass. PMID:23420814

BAE, HYO SOOK; RYU, MIN JI; KIM, IN SUN; KIM, SUN HAENG; SONG, JAE YUN

2013-01-01

453

Guillain–Barré syndrome presenting with Raynaud’s phenomenon: a case report  

PubMed Central

Background Guillain–Barré syndrome is an immune mediated acute inflammatory polyradiculo-neuropathy involving the peripheral nervous system. Commonest presentation is acute or subacute flaccid ascending paralysis of limbs. Rarely autonomic dysfunction can be the presenting feature of Guillain–Barré syndrome. Raynaud’s phenomenon, although had been described in relation to many disease conditions, has not been described in association with Guillain–Barré syndrome up to date. Case presentation We report the first case of Guillain–Barré syndrome presenting with Raynaud’s phenomenon in a 21-year-old previously well boy. New onset Raynaud’s phenomenon was experienced followed by acute ascending flaccid paralysis of lower limbs and upper limbs together with palpitations and postural giddiness. Nerve conduction studies showed acute inflammatory demyelinating polyneuropathy with cerebrospinal fluid cyto-protein dissociation. He was treated with intravenous immunoglobulin and showed a satisfactory clinical recovery of muscle weakness, Raynaud’s phenomenon and autonomic disturbances. Conclusion Guillain–Barré syndrome presenting with Raynaud’s phenomenon is not being reported in literature previously. Although the underlying mechanism is not fully understood, Raynaud’s phenomenon should prompt the physician to consider Guillain–Barré syndrome with a complimentary clinical picture. PMID:25182165

2014-01-01

454

Proteus syndrome: Clinical diagnosis of a series of cases  

PubMed Central

Objectives: This paper describes the clinical diagnosis of Proteus syndrome (PS) in children referred for evaluation of asymmetric disproportionate overgrowth. Materials and Methods: Retrospective, descriptive, cross-sectional study conducted from January 1998 to December 2010. Results: During the study period, 2011 new patients were evaluated. Thirteen (0.65%) patients presented features suggestive of PS. These patients were formally evaluated based on the revised diagnostic criteria proposed by Biesecker. The mean age was 6.92 ± 5.1 years. Ten patients (76.9%) were females. All subjects had asymmetric disproportionate overgrowth. Other dysmorphic features were as follows: macrodactily (84.6%); linear epidermal nevus (41.6%); hemangioma (30.7%); and lipoma (23%). Six patients fulfilled the diagnostic criteria for PS. Conclusions: The diagnostic rate of only 46.1% of patients with PS confirms the diagnostic difficulties and the need for continuous monitoring and periodic review of these patients since the clinical manifestations of this syndrome become more evident with aging. Molecular tests may help the differential diagnosis of Proteus syndrome when they became commercially available. PMID:24381883

Alves, Cresio; Acosta, Angelina X.; Toralles, Maria Betânia P.

2013-01-01

455

Mozart's movements and behaviour: a case of Tourette's syndrome?  

PubMed Central

In this review, we intend to explore the often asked question: “Did Mozart have Tourette's syndrome?” Although there are numerous reports attributing Mozart's peculiar personality and behaviour to a spectrum of neurobehavioural disorders such as Tourette's syndrome, autistic disorder, Asperger's syndrome, attention deficit hyperactivity disorder, obsessive–compulsive disorder and paediatric autoimmune neuropsychiatric disorders associated with streptococcal infection, the evidence for any of these disorders is lacking. Whether Mozart's behaviour was nothing more than a reflection of his unique personality or a more complex neurological disorder, aggravated later in life by enormous demands by his father and society, his behaviour has been the subject of many biographies. It will also remain unknown to what extent his accomplishments and failures were shaped by his childhood experiences, pressured lifestyle, and his innate genius and extraordinary talent. Lessons from his life may have important implications for other gifted individuals and savants whose special attributes may lead them to succeed or, on the other hand, suppress their emotional growth and make them more vulnerable to stress and failure. PMID:17940168

Ashoori, Aidin; Jankovic, Joseph

2007-01-01

456

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

PubMed Central

We would like to present a patient with a classical phenotype of a rare disorder - Cowden syndrome, its diagnostics and management challenges. A breast surgeon has to be aware of this rare condition when treating a patient with breast manifestations of Cowden syndrome and has to refer the patient to a clinical geneticist for further evaluation. Sequencing of the PTEN gene showed the Asp24Gly mutation. According to the latest literature data, the lifetime risk of breast cancer for Cowden syndrome patients is 81% and surgery is a justified option to reduce the risk of breast cancer. Bilateral risk-reducing mastectomy with immediate reconstruction was performed to eliminate further risk of breast cancer. 3 years after the risk-reducing breast surgery the patient is satisfied with the outcome. This is to our best knowledge the first reported Cowden syndrome case with follow-up data after risk-reducing measures have been taken. PMID:22503188

2012-01-01

457

Triple X Syndrome with Short Stature: Case Report and Literature Review  

PubMed Central

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

Li, Mingyan; Zou, Chaochun; Zhao, Zhengyan

2012-01-01

458

Sequential Supernumerary Teeth Development in a Non-Syndromic Patient; Report of a Rare Case  

PubMed Central

Isolated impacted supernumerary teeth are quite rare, but they can be seen associated with several syndromes such as cleidocranial dysostosis or Gardner’s syndrome. This article aims to discuss a case of sequential formation of supernumerary teeth with no other associated disease or syndrome. A 17-year-old Iranian male with 8 impacted supernumerary teeth was referred to the department of pediatric dental clinic at Shahid Beheshti Medical University in Tehran with a history of several impacted unerupted teeth. Repeated and periodical clinical and radiographic examinations revealed newly formed teeth buds in unusual dental ages. All extra teeth were associated with generalized enamel hypoplasia to some degree on their relative permanent adjacent teeth. The patient did not have any record of a systemic disease or any syndromic condition to relate his dental problem to. This rare condition involved repeated and continued formation of extra teeth out of the normal numbers and dental age evident in serial radiographs. PMID:24910667

Jafarian, Mohammad; Nazemi, Bahareh; Bargrizan, Majid; Ramezani, Jamileh; Ansari, Ghassem

2013-01-01

459

Oral squamous cell carcinoma in a patient with keratitis-ichthyosis-deafness syndrome: a rare case.  

PubMed

Keratitis-ichthyosis-deafness (KID) syndrome is a rare form of ectodermal dysplasia with significant visual and auditory impairment. Pathogenesis involves a mutation in the GJB2 gene, which encodes connexin-26, a protein in the epithelial gap junctions thought to be involved in the differentiation of ectodermally derived tissues. Affected patients are also at increased risk for the epithelial malignancies. To our knowledge, nearly 100 cases of KID syndrome, including 19 with squamous cell carcinoma (SCC) complications, have been reported worldwide. We report here a patient with KID syndrome who developed an ulcerative oral lesion causing him significant discomfort; he was subsequently diagnosed with oral SCC. We review the clinical presentation and symptomatology, including those affecting the oral cavity for this syndrome and highlight the importance of multidisciplinary collaboration and life-long screening aimed at prevention of the evolving complications. PMID:25758847

Homeida, L; Wiley, R T; Fatahzadeh, M

2015-04-01

460

Dentition abnormalities in a Timothy syndrome patient with a novel genetic mutation: a case report.  

PubMed

The purpose of this paper was to present the case of a two-year-old male diagnosed with Timothy syndrome who presented with generalized enamel defects in the primary dentition. Timothy syndrome is an autosomal dominant condition characterized by a de novo missense mutation in the Cav1.2 L-type calcium channel CACNA1C. Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and autism. Craniofacial abnormalities reported include: low-set ears; flat nasal bridge; small upper jaw; thin upper lip; round face; and baldness at birth. Abnormalities in the dentition have been reported, including small, misplaced teeth with poor enamel and severe caries. At present, there is no thorough description of the dental abnormalities seen in a patient with Timothy syndrome. PMID:24960393

Papineau, Scott D; Wilson, Stephen

2014-01-01