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Sample records for bardet-biedl syndrome case

  1. Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

    PubMed Central

    Riise, R.; Andreasson, S.; Borgstrom, M.; Wright, A.; Tommerup, N.; Rosenberg, T.; Tornqvist, K.

    1997-01-01

    AIMS—To describe the variation of the phenotype within families with several individuals with Bardet-Biedl syndrome.
METHODS—The phenotypes of affected siblings in 11 Scandinavian families were compared with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation. Individuals without retinal dystrophy were excluded.
RESULTS—Intrafamilial variation of expressivity of the features obesity, polydactyly, abnormal radiograms of the extremities, hypogenitalism, short stature, paraplegia, and dental abnormalities was found. The retinal dystrophy varied with respect to both the onset of symptoms and the course of the disease. The morphology of the fundus, however, was consistent within the families. The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the affected siblings in two of the families, but the clinical features in these patients did not differ from the other cases of Bardet-Biedl syndrome.
CONCLUSION—Comparison of siblings with the Bardet-Biedl syndrome showed variation of the typical features. In addition, the course of retinal dystrophy varied. No distinctive clinical features were found to separate the BBS4 phenotype from the remaining patients.

 PMID:9227203

  2. Bardet-Biedl syndrome in two sisters: A rare incidence

    PubMed Central

    Varma, Chaitanya; Bhat, Ramesh Y.; Bhatt, Sonia

    2013-01-01

    Bardet-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, mental retardation and hypogonadism. We present two sisters with this rare genetic condition. PMID:27625840

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

    PubMed Central

    Singh, K. K.; Kumar, R.; Prakash, J.; Krishna, A.

    2015-01-01

    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement. Renal involvement in various forms has been seen in BBS. Cases with nephrotic range proteinuria not responding to steroid have been described in this syndrome. Here we report a case of BBS who presented with nephrotic range proteinuria. The biopsy findings were suggestive of minimal change disease. The child responded well to steroid therapy and remains in remission. PMID:26628797

  4. Hypothalamic-pituitary function in the Bardet-Biedl syndrome.

    PubMed

    Leroith, D; Farkash, Y; Bar-Ziev, J; Spitz, I M

    1980-07-01

    Four siblings with classic Bardet-Biedl syndrome were studied. The brother had hypogonadism of testiculr origin, with high gonadotropin levels and exaggerated responses to luteinizing-hormone-releasing hormone, whereas the three sisters showed a normal hypothalamic-pituitary-gonadal axis. The remaining pituitary hormone function was intact.

  5. Genetics of human Bardet-Biedl syndrome, an updates.

    PubMed

    Khan, S A; Muhammad, N; Khan, M A; Kamal, A; Rehman, Z U; Khan, S

    2016-07-01

    Bardet-Biedl syndrome (BBS) is an autosomal recessive multisystemic human genetic disorder characterized by six major defects including obesity, mental retardation, renal anomalies, polydactyly, retinal degeneration and hypogenitalism. In several cases of BBS, few other features such as metabolic defects, cardiovascular anomalies, speech deficits, hearing loss, hypertension, hepatic defects and high incidence of diabetes mellitus have been reported as well. The BBS displays extensive genetic heterogeneity. To date, 19 genes have been mapped on different chromosomes causing BBS phenotypes having varied mutational load of each BBS gene. In this review, we have discussed clinical spectrum and genetics of BBS. This report presents a concise overview of the current knowledge on clinical data and its molecular genetics progress upto date.

  6. Bardet-Biedl syndrome: A rare genetic disease

    PubMed Central

    Valverde, Diana; Castro-Sánchez, Sheila; Álvarez-Satta, María

    2013-01-01

    Bardet-Biedl syndrome (BBS) is a rare multisystem genetic disease, with high phenotypic and genetic heterogeneity. Rod-cone dystrophy, obesity, polydactyly, hypogonadism, cognitive impairment and renal abnormalities have been established as primary features. There are 17 BBS genes (BBS1-BBS17) described to date, which explain 70–80% of the patients clinically diagnosed, therefore more BBS genes remain to be identified. BBS belongs to a group of diseases known as ciliopathies. In general, ciliopathies and BBS in particular share a partial overlapping phenotype that makes them complicated to diagnose. We present an up-to-date review including clinical, epidemiologic and genetic aspects of the syndrome. PMID:27625843

  7. Bardet-Biedl syndrome: Is it only cilia dysfunction?

    PubMed

    Novas, Rossina; Cardenas-Rodriguez, Magdalena; Irigoín, Florencia; Badano, Jose L

    2015-11-14

    Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic disorder, characterized by both congenital and late onset defects. From the analysis of the mutational burden in patients to the functional characterization of the BBS proteins, this syndrome has become a model for both understanding oligogenic patterns of inheritance and the biology of a particular cellular organelle: the primary cilium. Here we briefly review the genetics of BBS to then focus on the function of the BBS proteins, not only in the context of the cilium but also highlighting potential extra-ciliary roles that could be relevant to the etiology of the disorder. Finally, we provide an overview of how the study of this rare syndrome has contributed to the understanding of cilia biology and how this knowledge has informed on the cellular basis of different clinical manifestations that characterize BBS and the ciliopathies.

  8. Bardet-Biedl syndrome: Is it only cilia dysfunction?

    PubMed

    Novas, Rossina; Cardenas-Rodriguez, Magdalena; Irigoín, Florencia; Badano, Jose L

    2015-11-14

    Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic disorder, characterized by both congenital and late onset defects. From the analysis of the mutational burden in patients to the functional characterization of the BBS proteins, this syndrome has become a model for both understanding oligogenic patterns of inheritance and the biology of a particular cellular organelle: the primary cilium. Here we briefly review the genetics of BBS to then focus on the function of the BBS proteins, not only in the context of the cilium but also highlighting potential extra-ciliary roles that could be relevant to the etiology of the disorder. Finally, we provide an overview of how the study of this rare syndrome has contributed to the understanding of cilia biology and how this knowledge has informed on the cellular basis of different clinical manifestations that characterize BBS and the ciliopathies. PMID:26231314

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

    SciTech Connect

    Wright, A.F.; Bruford, E.A.; Mansfield, D.C.

    1994-09-01

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

  10. [Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches].

    PubMed

    Chennen, Kirsley; Scerbo, Maria Julia; Dollfus, Hélène; Poch, Olivier; Marion, Vincent

    2014-11-01

    The primary cilium is a specialized organelle, present at the surface of most eukaryotic cells, whose main function is to detect, integrate and transmit intra- and extra-cellular signals. Its dysfunction usually results in a group of severe clinical manifestations nowadays termed ciliopathies. The latter can be of syndromic nature with multi-organ dysfunctions and can also be associated with a morbid obese phenotype, like it is the case in the iconic ciliopathy, the Bardet Biedl syndrome (BBS). This review will discuss the contribution of the unique context offered by the emblematic BBS for understanding the mechanisms leading to obesity via the involvement of the primary cilium together with identification of novel molecular players and signaling pathways it has helped to highlight. In the current context of translational medicine and system biology, this article will also discuss the potential benefits and challenges posed by these techniques via multi-level approaches to better dissect the underlying mechanisms leading to the complex condition of obesity.

  11. Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9)*

    PubMed Central

    Knockenhauer, Kevin E.; Schwartz, Thomas U.

    2015-01-01

    The Bardet-Biedl syndrome protein complex (BBSome) is an octameric complex that transports membrane proteins into the primary cilium signaling organelle in eukaryotes and is implicated in human disease. Here we have analyzed the 99-kDa human BBS9 protein, one of the eight BBSome components. The protein is composed of four structured domains, including a β-stranded N-terminal domain. The 1.8 Å crystal structure of the 46-kDa N-terminal domain reveals a seven-bladed β-propeller. A structure-based homology search suggests that it functions in protein-protein interactions. We show that the Bardet-Biedl syndrome-causing G141R mutation in BBS9 likely results in misfolding of the β-propeller. Although the C-terminal half of BBS9 dimerizes in solution, the N-terminal domain only does so in the crystal lattice. This C-terminal dimerization interface might be important for the assembly of the BBSome. PMID:26085087

  12. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

    PubMed Central

    Beales, P; Elcioglu, N; Woolf, A; Parker, D; Flinter, F

    1999-01-01

    Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult. We sought to define the condition more clearly by studying 109 BBS patients and their families, the largest population surveyed to date. The average age at diagnosis was 9 years, which is late for such a debilitating condition, but the slow development of the clinical features of BBS probably accounts for this. Postaxial polydactyly had been present in 69% of patients at birth, but obesity had only begun to develop at around 2-3 years, and retinal degeneration had not become apparent until a mean age of 8.5 years. Our study identified some novel clinical features, including neurological, speech, and language deficits, behavioural traits, facial dysmorphism, and dental anomalies. In the light of these features we propose a revision of the diagnostic criteria, which may facilitate earlier diagnosis of this disorder. We present evidence for an overlapping phenotype with the Laurence-Moon syndrome and propose a unifying, descriptive label be adopted (polydactyly-obesity-kidney-eye syndrome).
  We report an increased prevalence of renal malformations and renal cell carcinoma in the unaffected relatives of BBS patients and suggest that these may be a consequence of heterozygosity for BBS genes. Our findings have important implications for the care of BBS patients and their unaffected relatives.


Keywords: Bardet-Biedl syndrome; diagnosis; renal malformation; heterozygotes PMID:10874630

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

    PubMed

    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, Hélène; Tada, Masazumi; Katsanis, Nicholas; Forge, Andrew; Beales, Philip L

    2005-10-01

    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.

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

    PubMed

    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

    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.

  15. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

    PubMed

    Bujakowska, Kinga M; Zhang, Qi; Siemiatkowska, Anna M; Liu, Qin; Place, Emily; Falk, Marni J; Consugar, Mark; Lancelot, Marie-Elise; Antonio, Aline; Lonjou, Christine; Carpentier, Wassila; Mohand-Saïd, Saddek; den Hollander, Anneke I; Cremers, Frans P M; Leroy, Bart P; Gai, Xiaowu; Sahel, José-Alain; van den Born, L Ingeborgh; Collin, Rob W J; Zeitz, Christina; Audo, Isabelle; Pierce, Eric A

    2015-01-01

    Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional protein trafficking along the cilium. Mutations in genes coding for IFT components have been associated with a group of diseases called ciliopathies. These genetic disorders can affect a variety of organs including the retina. Using whole exome sequencing in three families, we identified mutations in Intraflagellar Transport 172 Homolog [IFT172 (Chlamydomonas)] that underlie an isolated retinal degeneration and Bardet-Biedl syndrome. Extensive functional analyses of the identified mutations in cell culture, rat retina and in zebrafish demonstrated their hypomorphic or null nature. It has recently been reported that mutations in IFT172 cause a severe ciliopathy syndrome involving skeletal, renal, hepatic and retinal abnormalities (Jeune and Mainzer-Saldino syndromes). Here, we report for the first time that mutations in this gene can also lead to an isolated form of retinal degeneration. The functional data for the mutations can partially explain milder phenotypes; however, the involvement of modifying alleles in the IFT172-associated phenotypes cannot be excluded. These findings expand the spectrum of disease associated with mutations in IFT172 and suggest that mutations in genes originally reported to be associated with syndromic ciliopathies should also be considered in subjects with non-syndromic retinal dystrophy.

  16. Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.

    PubMed

    Braun, J J; Noblet, V; Kremer, S; Molière, S; Dollfus, H; Marion, V; Goetz, N; Muller, J; Riehm, S

    2016-07-01

    Olfactory bulb (OB) volume evaluation by magnetic resonance imaging (MRI) has been demonstrated to be related to olfactory dysfunction in many different diseases. Olfactory dysfunction is often overlooked in Bardet-Biedl syndrome (BBS) patients and is rarely objectively evaluated by MRI. We present a series of 20 BBS patients with olfactory dysfunction. The OB was evaluated separately and blindly by two radiologists (SR and SM) with 3 Tesla MRI imaging comparatively to 12 normal control subjects by global visual evaluation and by quantitative measurement of OB volume. In the 12 control cases OB visual evaluation was considered as normal in all cases for radiologist (SR) and in 10 cases for radiologist (SM). In the 20 BBS patients, OB visual evaluation was considered as abnormal in 18 cases for SR and in all cases for SM. OB volumetric evaluation for SR and SM in BBS patients was able to provide significant correlation between BBS and olfactory dysfunction. This study indicates that OB volume evaluation by MRI imaging like structural MRI scan for gray matter modifications demonstrates that olfactory dysfunction in BBS patients is a constant and cardinal symptom integrated in a genetical syndrome with peripheral and central olfactory structure alterations.

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

    SciTech Connect

    Carmi, R.; Elbedour, K.; Stone, E.M.; Sheffield, V.C.

    1995-11-06

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

  18. Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

    PubMed Central

    Maria, Maleeha; Lamers, Ideke J. C.; Schmidts, Miriam; Ajmal, Muhammad; Jaffar, Sulman; Ullah, Ehsan; Mustafa, Bilal; Ahmad, Shakeel; Nazmutdinova, Katia; Hoskins, Bethan; van Wijk, Erwin; Koster-Kamphuis, Linda; Khan, Muhammad Imran; Beales, Phil L.; Cremers, Frans P. M.; Roepman, Ronald; Azam, Maleeha; Arts, Heleen H.; Qamar, Raheel

    2016-01-01

    Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically and clinically heterogeneous. To date 19 genes have been associated with BBS, which encode proteins active at the primary cilium, an antenna-like organelle that acts as the cell’s signaling hub. In the current study, a combination of mutation screening, targeted sequencing of ciliopathy genes associated with BBS, and whole-exome sequencing was used for the genetic characterization of five families including four with classic BBS symptoms and one BBS-like syndrome. This resulted in the identification of novel mutations in BBS genes ARL6 and BBS5, and recurrent mutations in BBS9 and CEP164. In the case of CEP164, this is the first report of two siblings with a BBS-like syndrome with mutations in this gene. Mutations in this gene were previously associated with nephronophthisis 15, thus the current results expand the CEP164-associated phenotypic spectrum. The clinical and genetic spectrum of BBS and BBS-like phenotypes is not fully defined in Pakistan. Therefore, genetic studies are needed to gain insights into genotype-phenotype correlations, which will in turn improve the clinician’s ability to make an early and accurate diagnosis, and facilitate genetic counseling, leading to directly benefiting families with affected individuals. PMID:27708425

  19. Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome

    PubMed Central

    Hamlington, Barbara; Ivey, Lauren E.; Brenna, Ethan; Biesecker, Leslie G.; Biesecker, Barbara B.; Sapp, Julie C.

    2015-01-01

    Background A child’s obesity is generally perceived by the public to be under the control of the child’s parents. While the health consequences of childhood obesity are well understood, less is known about psychological and social effects of having an obese child on parents. We set out to characterize stigma and courtesy stigma experiences surrounding obesity among children with Bardet-Biedl syndrome (BBS), a multisystem genetic disorder, and their parents. Methods Twenty-eight parents of children with BBS participated in semi-structured interviews informed by social stigmatization theory, which describes courtesy stigma as parental perception of stigmatization by association with a stigmatized child. Parents were asked to describe such experiences. Results Parents of children with BBS reported the child’s obesity as the most frequent target of stigmatization. They perceived health care providers as the predominant source of courtesy stigma, describing interactions that resulted in feeling devalued and judged as incompetent parents. Conclusions Parents of children with BBS feel blamed by others for their child’s obesity and described experiences that suggest health care providers may contribute to courtesy stigma and thus impede effective communication about managing obesity. Health care providers may reinforce parental feelings of guilt and responsibility by repeating information parents may have previously heard and ignoring extremely challenging barriers to weight management, such as a genetic predisposition to obesity. Strategies to understand and incorporate parents’ perceptions and causal attributions of their children’s weight may improve communication about weight control. PMID:26473736

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

    PubMed Central

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

    2014-01-01

    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

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

    PubMed

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

    2013-12-01

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

  2. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

    PubMed

    Lindstrand, Anna; Frangakis, Stephan; Carvalho, Claudia M B; Richardson, Ellen B; McFadden, Kelsey A; Willer, Jason R; Pehlivan, Davut; Liu, Pengfei; Pediaditakis, Igor L; Sabo, Aniko; Lewis, Richard Alan; Banin, Eyal; Lupski, James R; Davis, Erica E; Katsanis, Nicholas

    2016-08-01

    Bardet-Biedl syndrome (BBS) is a defining ciliopathy, notable for extensive allelic and genetic heterogeneity, almost all of which has been identified through sequencing. Recent data have suggested that copy-number variants (CNVs) also contribute to BBS. We used a custom oligonucleotide array comparative genomic hybridization (aCGH) covering 20 genes that encode intraflagellar transport (IFT) components and 74 ciliopathy loci to screen 92 unrelated individuals with BBS, irrespective of their known mutational burden. We identified 17 individuals with exon-disruptive CNVs (18.5%), including 13 different deletions in eight BBS genes (BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, BBS9, and NPHP1) and a deletion and a duplication in other ciliopathy-associated genes (ALMS1 and NPHP4, respectively). By contrast, we found a single heterozygous exon-disruptive event in a BBS-associated gene (BBS9) in 229 control subjects. Superimposing these data with resequencing revealed CNVs to (1) be sufficient to cause disease, (2) Mendelize heterozygous deleterious alleles, and (3) contribute oligogenic alleles by combining point mutations and exonic CNVs in multiple genes. Finally, we report a deletion and a splice site mutation in IFT74, inherited under a recessive paradigm, defining a candidate BBS locus. Our data suggest that CNVs contribute pathogenic alleles to a substantial fraction of BBS-affected individuals and highlight how either deletions or point mutations in discrete splice isoforms can induce hypomorphic mutations in genes otherwise intolerant to deleterious variation. Our data also suggest that CNV analyses and resequencing studies unbiased for previous mutational burden is necessary to delineate the complexity of disease architecture. PMID:27486776

  3. Cartilage Abnormalities Associated with Defects of Chondrocytic Primary Cilia in Bardet-Biedl Syndrome Mutant Mice

    PubMed Central

    Kaushik, Anjan P.; Martin, James A.; Zhang, Qihong; Sheffield, Val C.; Morcuende, Jose A.

    2013-01-01

    SUMMARY Primary cilia are found on nearly every mammalian cell, including osteocytes, fibroblasts, and chondrocytes. However, the functions of primary cilia have not been extensively studied in these cells, particularly chondrocytes. Interestingly, defects in the primary cilium result in skeletal defects such as polydactyly in Bardet-Biedl Syndrome (BBS), a ciliary disorder that also results in obesity, retinopathy, and cognitive impairments (1–4). Wild-type mice and mutant mice of the ciliary proteins Bbs1, Bbs2, and Bbs6 were evaluated with respect to histological and biochemical differences in chondrocytes from articular cartilage and xiphoid processes. Using immunofluorescence microscopy, chondrocytic cilia were visualized from the load-bearing joints and non-load-bearing xiphoid processes. Significant differences in ciliary morphology were not identified between mutant and wild-type mice. However, after expanding chondrocytes in cell culture and implanting them in solid agarose matrix, it was seen that the fraction of ciliated cells in cultures from mutant mice was significantly lower than in the wild-type cultures (p<.05). In addition, in Safranin-O-stained whole joint sections, Bbs mutant mice had significantly lower articular joint thickness (p<.05) and lower proteoglycan content saturation (p<.05) than wild-type mice. Moreover, there were statistically significant differences of cell distribution between Bbs mutant and wild-type mice (p<.05), indicating that mutant articular cartilage had changes consistent with early signs of osteoarthritis. These data indicate that Bbs genes and their functions in the chondrocytic primary cilium are important for normal articular cartilage maintenance. PMID:19195025

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

    PubMed

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

    2013-12-01

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

  5. Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

    PubMed

    Abu Safieh, L; Aldahmesh, M A; Shamseldin, H; Hashem, M; Shaheen, R; Alkuraya, H; Al Hazzaa, S A F; Al-Rajhi, A; Alkuraya, F S

    2010-04-01

    Bardet-Biedl syndrome (BBS) is a ciliopathy with pleiotropic effect that manifests primarily as renal insufficiency, polydactyly, retinal dystrophy and obesity. The current phenotype-genotype correlation is insufficient to predict the likely causative mutation that makes sequencing of all 14 BBS genes an often necessary but highly complicated way to identify the underlying genetic defect in affected patients. In this study, homozygosity mapping is shown as a robust approach that is highly suited for genetically heterogeneous autosomal recessive disorders in populations in which consanguinity is prevalent. This approach allowed us to quickly identify seven novel mutations in seven families with BBS. Some of these mutations would have been missed by unguided routine sequencing, which suggests that missed mutations in known BBS genes could be more common than previously thought. This study, the largest to date on Saudi BBS families, also revealed interesting phenotypic aspects of BBS, including the first report of non-syndromic retinitis pigmentosa as a novel BBS phenotype.

  6. Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans.

    PubMed

    Mok, Calvin A; Healey, Michael P; Shekhar, Tanvi; Leroux, Michel R; Héon, Elise; Zhen, Mei

    2011-10-01

    Ciliopathies are pleiotropic and genetically heterogeneous disorders caused by defective development and function of the primary cilium. Bardet-Biedl syndrome (BBS) proteins localize to the base of cilia and undergo intraflagellar transport, and the loss of their functions leads to a multisystemic ciliopathy. Here we report the identification of mutations in guanylate cyclases (GCYs) as modifiers of Caenorhabditis elegans bbs endophenotypes. The loss of GCY-35 or GCY-36 results in suppression of the small body size, developmental delay, and exploration defects exhibited by multiple bbs mutants. Moreover, an effector of cGMP signalling, a cGMP-dependent protein kinase, EGL-4, also modifies bbs mutant defects. We propose that a misregulation of cGMP signalling, which underlies developmental and some behavioural defects of C. elegans bbs mutants, may also contribute to some BBS features in other organisms. PMID:22022287

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

    PubMed Central

    2011-01-01

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

  8. A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina

    PubMed Central

    Bolch, Susan N.; Dugger, Donald R.; Chong, Timothy; McDowell, J. Hugh; Smith, W. Clay

    2016-01-01

    Purpose Bardet-Biedl syndrome is a complex ciliopathy that usually manifests with some form of retinal degeneration, amongst other ciliary-related deficiencies. One of the genetic causes of this syndrome results from a defect in Bardet-Biedl Syndrome 5 (BBS5) protein. BBS5 is one component of the BBSome, a complex of proteins that regulates the protein composition in cilia. In this study, we identify a smaller molecular mass form of BBS5 as a variant formed by alternative splicing and show that expression of this splice variant is restricted to the retina. Methods Reverse transcription PCR from RNA was used to isolate and identify potential alternative transcripts of Bbs5. A peptide unique to the C-terminus of the BBS5 splice variant was synthesized and used to prepare antibodies that selectively recognized the BBS5 splice variant. These antibodies were used on immunoblots of tissue extracts to determine the extent of expression of the alternative transcript and on tissue slices to determine the localization of expressed protein. Pull-down of fluorescently labeled arrestin1 by immunoprecipitation of the BBS5 splice variant was performed to assess functional interaction between the two proteins. Results PCR from mouse retinal cDNA using Bbs5-specific primers amplified a unique cDNA that was shown to be a splice variant of BBS5 resulting from the use of cryptic splicing sites in Intron 7. The resulting transcript codes for a truncated form of the BBS5 protein with a unique 24 amino acid C-terminus, and predicted 26.5 kD molecular mass. PCR screening of RNA isolated from various ciliated tissues and immunoblots of protein extracts from these same tissues showed that this splice variant was expressed in retina, but not brain, heart, kidney, or testes. Quantitative PCR showed that the splice variant transcript is 8.9-fold (+/- 1.1-fold) less abundant than the full-length transcript. In the retina, the splice variant of BBS5 appears to be most abundant in the connecting

  9. Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.

    PubMed

    Schaefer, E; Lauer, J; Durand, M; Pelletier, V; Obringer, C; Claussmann, A; Braun, J-J; Redin, C; Mathis, C; Muller, J; Schmidt-Mutter, C; Flori, E; Marion, V; Stoetzel, C; Dollfus, H

    2014-05-01

    Ciliopathies are heterogeneous disorders sharing different clinical signs due to a defect at the level of the primary cilia/centrosome complex. Postaxial polydactyly is frequently reported in ciliopathies, especially in Bardet-Biedl syndrome (BBS). Clinical features and genetic results observed in a pair of dizygotic twins with BBS are reported. The following manifestations were present: retinitis pigmentosa, bilateral insertional polydactyly, cognitive impairment and renal dysfunction. X-rays of the hands confirmed the presence of a 4th mesoaxial extra-digit with Y-shaped metacarpal bones. The sequencing of LZTFL1 identified a missense mutation (NM_020347.2: p.Leu87Pro; c.260T>C) and a nonsense mutation (p.Glu260*; c.778G>T), establishing a compound heterozygous status for the twins. A major decrease of LZTFL1 transcript and protein was observed in the patient's fibroblasts. This is the second report of LZTFL1 mutations in BBS patients confirming LZTFL1 as a BBS gene. Interestingly, the only two families reported in literature thus far with LZTFL1 mutations have in common mesoaxial polydactyly, a very uncommon feature for BBS. This special subtype of polydactyly in BBS patients is easily identified on clinical examination and prompts for priority sequencing of LZTFL1 (BBS17).

  10. Bardet-Biedl Syndrome

    MedlinePlus

    ... Research Institute Resources & Support Resources & Support Living with Vision Loss Newly Diagnosed FFB in Your Area Stories of Hope Videos Resources Low Vision Specialists Retinal Physicians My Retina Tracker Registry Genetic ...

  11. C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.

    PubMed

    Khan, Arif O; Decker, Eva; Bachmann, Nadine; Bolz, Hanno J; Bergmann, Carsten

    2016-09-01

    Bardet-Biedl syndrome (BBS) is a pleiotropic and clinically and genetically heterogeneous ciliopathy. Primary features are early-onset retinal dystrophy that is typically rod-cone, obesity, polydactyly, renal abnormalities, hypogonadism, and learning difficulties, but most patients do not present with the full clinical picture. In a BBS patient from a consanguineous marriage we performed next-generation sequencing targeting all known BBS genes and other genes known or hypothesized to cause ciliopathies. While no mutation was present in any of the recognized genes for BBS, we were able to identify the homozygous non-conservative mutation c.529C>T (p.Arg177Trp) in C8orf37 that segregated with the phenotype, affects an evolutionarily highly conserved residue, and is bioinformatically predicted to be pathogenic. The same mutation has been described in unrelated patients with non-syndromic cone-rod dystrophy and other C8orf37 changes were found in individuals with retinitis pigmentosa. We conclude that C8orf37 should be added to BBS screening panels as a probable rare cause of the disease and that individuals with C8orf37-related retinal dystrophy should be screened for BBS features. PMID:26854863

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

    SciTech Connect

    Kwitek-Black, A.E.; Rokhlina, T.; Nishimura, D.Y.

    1994-09-01

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

  13. Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

    PubMed

    Ece Solmaz, Asli; Onay, Huseyin; Atik, Tahir; Aykut, Ayca; Cerrah Gunes, Meltem; Ozalp Yuregir, Ozge; Bas, Veysel Nijat; Hazan, Filiz; Kirbiyik, Ozgur; Ozkinay, Ferda

    2015-12-01

    Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities, genital abnormalities and learning difficulties. To date, mutations in 21 different genes have been described as being responsible for BBS. Recently sequential gene sequencing has been replaced by next generation sequencing (NGS) applications. In this study, 15 patients with clinically diagnosed BBS were investigated using a next generation sequencing panel which included 17 known BBS causing genes (BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, NPHP6, WDPCP, SDCCAG8, NPHP1). A genetic diagnosis was achieved in 13 patients (86.6%) and involved 9 novel and 3 previously described pathogenic variants in 6 of 17 BBS causing genes. BBS10 and BBS1 were the most commonly involved genes with frequencies of 31% and 23% respectively. Three of the 13 patients had an affected sibling. All affected siblings were found to be homozygous for the mutation detected in the proband. No evidence of triallelic inheritance was detected. Although limited association between certain genes and phenotypic features has been observed in this study, it is considered that additional studies are needed to better characterize the genotype-phenotype correlation of BBS. Our results demonstrate that NGS panels are feasible and effective method for providing high diagnostic yields in the diseases caused by multiple genes such as BBS.

  14. A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome

    PubMed Central

    Hulleman, John D.; Nguyen, Annie; Ramprasad, V.L.; Murugan, Sakthivel; Gupta, Ravi; Mahindrakar, Avinash; Angara, Ravi; Sankurathri, Chandrasekhar

    2016-01-01

    Purpose To identify the causative mutation in two siblings from a consanguineous family in India with retinitis pigmentosa (RP) and polydactyly without other findings of Bardet-Biedl syndrome (BBS). We also performed functional characterization of the mutant protein to explore its role in this limited form of BBS. Methods The siblings underwent a thorough ophthalmological examination, including retinal optical coherence tomography (OCT) imaging, and an extensive physical examination with abdominal ultrasonography to characterize the disease phenotype. Next-generation sequencing (NGS) using a panel targeting retinal degeneration genes was performed on genomic DNA samples from the siblings and parents. Upon identification of the causative mutation, functional characterization was accomplished by performing protein–protein interaction studies in human embryonic kidney (HEK-293T) and human adult retinal pigmented epithelium (ARPE-19) cells. Results The two siblings showed signs of RP and polydactyly. The patients did not have truncal obesity, renal anomalies, hydrometrocolpos, congenital heart disease, or overt cognitive defects. NGS identified a homozygous c.1184A>G mutation in the MKKS/BBS6 gene in both patients resulting in a p.H395R substitution in the MKKS/BBS6 protein. This mutant protein decreased the interaction of MKKS/BBS6 with BBS12 but did so to a different extent in the HEK-293T versus ARPE-19 cells. Nonetheless, the effect of the H395R variant on disrupting interactions with BBS12 was not as profound as other reported MKKS/BBS6 mutations associated with syndromic RP. Conclusions We identified a novel H395R substitution in MKKS/BBS6 that results in a unique phenotype of only RP and polydactyly. Our observations reaffirm the notion that mutations in MKKS/BBS6 cause phenotypic heterogeneity and do not always result in classic MKKS or BBS findings. PMID:26900326

  15. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.

    PubMed

    Katsanis, N; Lewis, R A; Stockton, D W; Mai, P M; Baird, L; Beales, P L; Leppert, M; Lupski, J R

    1999-12-01

    Bardet-Biedl syndrome (BBS) is a genetically heterogeneous recessive disease characterized primarily by atypical retinitis pigmentosa, obesity, polydactyly, hypogenitalism, and mental retardation. Despite the presence of at least five loci in the human genome, on chromosomes 2q, 3p, 11q, 15q and 16q, as many as 50% of the mutations appear to map to the BBS1 locus on 11q13. The recessive mode of inheritance and the genetic heterogeneity of the syndrome, as well as the inability to distinguish between different genetic loci by phenotypic analyses, have hindered efforts to delineate the 11q13 region as a first step toward cloning the mutated gene. To circumvent these difficulties, we collected a large number of BBS pedigrees of primarily North American and European origin and performed genetic analysis, using microsatellites from all known BBS genomic regions. Heterogeneity analysis established a 40.5% contribution of the 11q13 locus to BBS, and haplotype construction on 11q-linked pedigrees revealed several informative recombinants, defining the BBS1 critical interval between D11S4205 and D11S913, a genetic distance of 2.9 cM, equivalent to approximately 2.6 Mb. Loss of identity by descent in two consanguineous pedigrees was also observed in the region, potentially refining the region to 1.8 Mb between D11S1883 and D11S4944. The identification of multiple recombinants at the same position forms the basis for physical mapping efforts, coupled with mutation analysis of candidate genes, to identify the gene for BBS1.

  16. 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 ...

  17. MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome.

    PubMed

    Sharda, Sheetal; Panigrahi, Inusha; Marwaha, Ram Kumar

    2011-01-01

    There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.

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

    PubMed Central

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

    2013-01-01

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

  19. MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

    PubMed

    Hampshire, Daniel J; Ayub, Mohammed; Springell, Kelly; Roberts, Emma; Jafri, Hussain; Rashid, Yasmin; Bond, Jacquelyn; Riley, John H; Woods, C Geoffrey

    2006-05-01

    A consanguineous pedigree is described where 14 individuals are affected with a novel autosomal recessive disorder, which causes static moderate mental retardation, truncal obesity, a congenital nonprogressive retinal dystrophy and micropenis in males. We have tentatively named this condition MORM syndrome. It shows similarities to Bardet-Biedl syndrome and Cohen syndrome, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the visual impairment, the lack of characteristic facies, skin or gingival infection, microcephaly, 'mottled retina', polydactyly and small penis without testicular anomalies. Furthermore, linkage to the known Bardet-Biedl (BBS1-8) and Cohen syndrome loci was excluded. Autozygosity mapping identified a single homozygous subtelomeric region shared by all affecteds on chromosome 9q34.3, with a maximum LOD score of 5.64. We believe this to be the first example of the identification of a subtelomeric recessive locus by autozygosity mapping.

  20. Ciliary disturbances in syndromal and non-syndromal obesity.

    PubMed

    de Vries, Tamar I; van Haelst, Mieke M

    2014-06-01

    Obesity is an increasing global health problem. Although it is mainly thought to be due to the changing obesogenic environment, the genetic contribution has been estimated between 40-70%. A number of genes have been identified that cause obesity in animals as well as in humans. Rare highly penetrant monogenic forms of obesity can cause both syndromal and non-syndromal forms of obesity. Bardet-Biedl syndrome and Alström syndrome are well known monogenic obesity syndromes caused by primary cilia defects. The pathogenesis of the obesity phenotype in these disorders is however not fully understood. Disturbance of the appetite regulation system, abnormalities in body composition and decreased energy expenditure have been suggested to cause obesity in these ciliopathies. There are currently 19 known genes associated with Bardet-Biedl syndrome and one Alström syndrome gene. Although ciliopathy genes have been described primarily in these syndromal obesity disorders, non-syndromal obesity may also result from disturbed cilia function. There are multiple genes associated with both obesity and ciliary function. Here we provide an overview of the current knowledge of the clinical, pathophysiological and genetic aspects of obesity in patients with ciliary defects. PMID:27625866

  1. Ciliary disturbances in syndromal and non-syndromal obesity

    PubMed Central

    de Vries, Tamar I.; van Haelst, Mieke M.

    2014-01-01

    Obesity is an increasing global health problem. Although it is mainly thought to be due to the changing obesogenic environment, the genetic contribution has been estimated between 40–70%. A number of genes have been identified that cause obesity in animals as well as in humans. Rare highly penetrant monogenic forms of obesity can cause both syndromal and non-syndromal forms of obesity. Bardet-Biedl syndrome and Alström syndrome are well known monogenic obesity syndromes caused by primary cilia defects. The pathogenesis of the obesity phenotype in these disorders is however not fully understood. Disturbance of the appetite regulation system, abnormalities in body composition and decreased energy expenditure have been suggested to cause obesity in these ciliopathies. There are currently 19 known genes associated with Bardet-Biedl syndrome and one Alström syndrome gene. Although ciliopathy genes have been described primarily in these syndromal obesity disorders, non-syndromal obesity may also result from disturbed cilia function. There are multiple genes associated with both obesity and ciliary function. Here we provide an overview of the current knowledge of the clinical, pathophysiological and genetic aspects of obesity in patients with ciliary defects.

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

    ClinicalTrials.gov

    2016-08-23

    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

  3. Clinical and Genetic Aspects of Primary Ciliary Dyskinesia / Kartagener Syndrome

    PubMed Central

    Leigh, Margaret W.; Pittman, Jessica E.; Carson, Johnny L.; Ferkol, Thomas W.; Dell, Sharon D.; Davis, Stephanie D.; Knowles, Michael R.; Zariwala, Maimoona A.

    2013-01-01

    Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (DNAH5) or intermediate (DNAI1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for PCD is available for the most common mutations. The respiratory manifestations of PCD (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis and chronic otitis media) reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of PCD patients have laterality defects (including situs inversus totalis and, less commonly, heterotaxy and congenital heart disease), reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most PCD patients have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with PCD. PMID:19606528

  4. Clinical and Molecular Investigations Into Ciliopathies

    ClinicalTrials.gov

    2016-09-27

    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

  5. Klinefelter syndrome: Case report

    PubMed Central

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

    2010-01-01

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

  6. Inherited Retinal Degenerative Disease Registry

    ClinicalTrials.gov

    2016-03-21

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

  7. Asperger's syndrome: a case report

    PubMed Central

    Goodman, Carol M.

    1987-01-01

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

  8. Frey's syndrome: case report.

    PubMed

    Haker, Jacqueline M; Mandel, Louis

    2012-01-01

    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

  9. [Jeune's syndrome (3 case reports)].

    PubMed

    Novaković, I; Kostić, M; Popović-Rolović, M; Sindjić, M; Peco-Antić, A; Jovanović, O; Krscić, D

    1996-01-01

    Jeune's syndrome or asphyxiating thoracic dystrophy is an autosomal recessive osteochondrodysplasia with multisystem involvement. In patients who survive neonatal period in the main clinical feature progressive renal failure is. Renal lesions are variable but is familial juvenile nephronophtisis the most frequent one. We present three patients with Jeune's syndrome phenotype and chronic tubulointerstitial disease. All patients developed terminal renal failure in the eyrly childhood. Renal histology, examined in two cases, was consistent with juvenile nephronophtisis in one case and with renal dysplasia in other case. All our patients had hepatic fibrosis and two of them had pigmentary retinophaty. We want to underline the importance of regular check-up of children with typical phenotype by pediatrician-nephrologist as wel as possibility of prenatal diagnosis of Jeune's syndrome. PMID:9102920

  10. Gullo's Syndrome: A Case Report.

    PubMed

    Kumar, Prabhat; Ghosh, Anindya; Tandon, Vaibhav; Sahoo, Ratnakar

    2016-02-01

    Benign Pancreatic Hyperenzymemia (BPH) or Gullo's Syndrome is a new entity with only few reported cases till date. It is characterized by persistently elevated pancreatic enzymes without any clinical or pathological evidence of pancreatic disease. Gullo's syndrome is a diagnosis of exclusion and clinician should be aware of various other conditions which can cause elevation of pancreatic enzymes. There are no reported cases of Gullo's syndrome from Indian subcontinent till date. A 42-year-old lady presented to us with complaints of fever and cough for which she was evaluated and diagnosed to be having left upper zone pneumonia. However, her routine investigations showed persistently elevated serum amylase and lipase levels. She was extensively worked up for pancreatic hyperenzymemia but no pancreatic disease was detected. She was followed up for a period of one year and raised levels of serum lipase and amylase persisted even after a year. PMID:27042510

  11. [Apert's syndrome: a case report].

    PubMed

    Doutetien, C; Laleye, A; Tchabi, S; Biaou, O; Lawani, R; Deguenon, J; Darboux, R; Gnamey, D; Bassabi, S K

    2003-09-01

    Apert's syndrome is a type of acrocephalosyndactylia that is from part of the great group of craniofacial synostoses. It is characterized by craniofacial dysmorphia and syndactylia on hands and feet, which differentiates it from Crouzon's disease. It is a rare affection that is often transmitted through an autosome dominant mode, but sporadic cases exist. We report the case of a 15-year-old girl who presented characteristic clinical signs of Apert's syndrome with normal karyotype without parental consanguinity. The Ser 252 Trp mutation of the FGFR2 gene was found, confirming the molecular diagnosis. This study illustrates the severity of ocular and neurological problems of untreated Apert's syndrome. The presence of hemoglobinopathy (Hb AS) is also a mark of its originality. PMID:13130264

  12. Cilium transition zone proteome reveals compartmentalization and differential dynamics of ciliopathy complexes.

    PubMed

    Dean, Samuel; Moreira-Leite, Flavia; Varga, Vladimir; Gull, Keith

    2016-08-30

    The transition zone (TZ) of eukaryotic cilia and flagella is a structural intermediate between the basal body and the axoneme that regulates ciliary traffic. Mutations in genes encoding TZ proteins (TZPs) cause human inherited diseases (ciliopathies). Here, we use the trypanosome to identify TZ components and localize them to TZ subdomains, showing that the Bardet-Biedl syndrome complex (BBSome) is more distal in the TZ than the Meckel syndrome (MKS) complex. Several of the TZPs identified here have human orthologs. Functional analysis shows essential roles for TZPs in motility, in building the axoneme central pair apparatus and in flagellum biogenesis. Analysis using RNAi and HaloTag fusion protein approaches reveals that most TZPs (including the MKS ciliopathy complex) show long-term stable association with the TZ, whereas the BBSome is dynamic. We propose that some Bardet-Biedl syndrome and MKS pleiotropy may be caused by mutations that impact TZP complex dynamics. PMID:27519801

  13. A Case of Hepatopulmonary Syndrome

    PubMed Central

    Sindhuja, R.; Natarajan, M.; Rajamurugan, P.S. Arul; Palanikumar, B.

    2016-01-01

    We report the case of a 52-year-old female, a known case of Chronic Liver Disease with portal hypertension. She presented with dyspnoea, platypnoea, melena, cyanosis, clubbing and orthodeoxia. She had oesophageal varices and splenomegaly indicating portal hypertension. Her arterial blood gas revealed hypoxaemia and orthodeoxia. From this clinical background and investigation, a diagnosis of hepatopulmonary syndrome was made. Patient was managed conservatively as she was not willing for liver transplantation. PMID:27134920

  14. A Case of Hepatopulmonary Syndrome.

    PubMed

    Sriram, P B; Sindhuja, R; Natarajan, M; Rajamurugan, P S Arul; Palanikumar, B

    2016-03-01

    We report the case of a 52-year-old female, a known case of Chronic Liver Disease with portal hypertension. She presented with dyspnoea, platypnoea, melena, cyanosis, clubbing and orthodeoxia. She had oesophageal varices and splenomegaly indicating portal hypertension. Her arterial blood gas revealed hypoxaemia and orthodeoxia. From this clinical background and investigation, a diagnosis of hepatopulmonary syndrome was made. Patient was managed conservatively as she was not willing for liver transplantation. PMID:27134920

  15. [Kartagener's syndrome: a case report].

    PubMed

    Thiam, M; Gning, S B; Faye, M B; Fall, P D; Mbaye, A; Charpentier, P

    2002-01-01

    The authors report a rare case of Kartagener's syndrome in 8 years old girl revelated by congenital cardiopathy with chronic bronchitis and severe heart failure. Incomplet endocardial cushion defect with single atrium was found and situs inversus suspected, confirmed by ultrasonography. She undergone cardiac surgery in Europe: atrial septation and mitralvalve repair. Surgery redux was neccessary formitral insufficency and residual shunt. Persistent atelectasia in lower inferior lobe indicated bronchoscopy. Lung biopsy confirmed Kartagener's syndrome. Now, she has no cardiac symptom, but bronchitis and chronic pansinusitis. PMID:15776606

  16. SUBSCAPULARIS SYNDROME: A CASE REPORT

    PubMed Central

    Donatelli, Robert A.; Bascharon, Randa

    2013-01-01

    Dysfunction of the subscapularis muscle is introduced in this case report as a potential factor for consideration in the etiology and/or consequential sequelae of subacromial impingement syndrome. Although dysfunction of the supraspinatus and infraspinatus are implicated as being most commonly involved with subacromial impingement pathology, the subscapularis is often overlooked and therefore undertreated. Identifying the subscapularis' potential involvement in patients with subacromial impingement pathology may offer insight into shoulder impingement dysfunction and injury treatment options available to specifically address subscapularis dysfunction. In this manuscript, a case report is presented to highlight the signs and symptoms of subscapularis pathology concordant with subacromial impingement syndrome and provide a clinical rationale for treatment. The purpose of this case report is not to suggest a new approach to shoulder rehabilitation, but rather to prompt the consideration of subscapularis dysfunction when evaluating and treating patients with subacromial impingement pathology. Level of Evidence: 5 PMID:24377073

  17. Diogenes syndrome: a case report.

    PubMed

    Biswas, Projna; Ganguly, Anusree; Bala, Sanchaita; Nag, Falguni; Choudhary, Nidhi; Sen, Sumit

    2013-01-01

    Cessation of normal skin cleansing seen in geriatric or self-neglected patients can cause accumulation of keratinous crusts on the skin. In the extreme end of this spectrum is a condition known as Diogenes syndrome (DS). These patients may have psychiatric disorders like paranoid disorders, mood affection, or temporofrontal dementia. Subjects are mainly the elderly but few cases in younger age group of patients have also been reported. Lesions of DS are usually found over upper central chest, back, and groin. In the young, lesions are mainly found over scalp, face, or arms. Absence of normal skin cleaning causes keratin and dirty debris to accumulate and with time form a thick shell. These debris can be secondarily infected by bacteria, fungus, and so forth. These skin lesions are not usually seen in individual with proper hygiene. We report a case of Diogenes syndrome in a 34-year-old young male patient who had associated schizophrenia.

  18. Plummer Vinson syndrome: case report.

    PubMed

    Jani, P G

    2001-06-01

    Plummer Vinson syndrome is characterised by dysphagia, iron deficiency, anaemia and oesophageal web or webs. This is a case report of a 33 year old Asian female who presented with slowly progressive dysphagia and a long history of iron deficiency anaemia. The anaemia was confirmed on repeated haemograms and a barium swallow revealed an upper oesophageal web. Upper gastrointestinal endoscopy and forceful dilatation were necessary to effect relief of dysphagia.

  19. Kousseff syndrome: A fifth case?

    SciTech Connect

    Laux, R.A.; Hamilton, W.; Pinette, M.

    1994-09-01

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

  20. Antisynthetase syndrome: a case report

    PubMed Central

    Hoey, Edward; Fletcher, Timothy; Ahmed, Zubair

    2016-01-01

    The case is about a 48-year-old man with one week history of progressively worsening shortness of breath and reduced exercise tolerance. Laboratory investigations revealed raised ESR, creatine kinase (CK) and positive anti-aminoacyl-transfer RNA synthetase. High resolution computed tomography (HRCT) chest showed prominent mediastinal lymph nodes and scattered lung nodules. These findings along with clinical features and investigations confirmed the diagnosis of antisynthetase syndrome (ASS). The radiological investigations proved to be the key step in diagnosis and management of this case. PMID:27190773

  1. Antisynthetase syndrome: a case report.

    PubMed

    Qureshi, Mehwish Asif; Hoey, Edward; Fletcher, Timothy; Ahmed, Zubair

    2016-04-01

    The case is about a 48-year-old man with one week history of progressively worsening shortness of breath and reduced exercise tolerance. Laboratory investigations revealed raised ESR, creatine kinase (CK) and positive anti-aminoacyl-transfer RNA synthetase. High resolution computed tomography (HRCT) chest showed prominent mediastinal lymph nodes and scattered lung nodules. These findings along with clinical features and investigations confirmed the diagnosis of antisynthetase syndrome (ASS). The radiological investigations proved to be the key step in diagnosis and management of this case. PMID:27190773

  2. Poland syndrome with dextrocardia: case report.

    PubMed

    Galiwango, G W; Swan, M C; Nyende, R; Hodges, A M

    2010-11-01

    Poland syndrome is a rare congenital condition presentingwith typical features including an absent costosternal head of pectoralis major andipsilateral brachysyndactyly. There are many clinical variations of the syndrome including rib defects, absence of shoulder girdle muscle and breast hypoplasia or agenesis. Dextrocardia is rarely associated with Poland Syndrome with only 22 cases being previously reported in the worldwide literature. Whereas 'classical' Poland syndrome is predominantly right sided, all cases associated with dextrocardia have been left sided. We report a further case of left sided Poland syndrome with dextrocardia which might have important implications for the understanding of the pathogenesis of this unusual condition.

  3. [Case report: bilateral Cushing's syndrome].

    PubMed

    Cheikhrouhou, Héla; Khiari, Karima; Chérif, Lotfi; Ben Abdallah, Néjib; Ben Maïz, Hédi

    2003-04-01

    The authors report a case of a 49-year-old woman presenting a Cushing's syndrome (January 1997). The Magnetic Resonance Image of the pituitary gland revealed a microadenoma without extension in the cavernous sinus and a partial empty sella. The computed tomography scan showed a discreet bilateral adrenal hyperplasia with a left nodule (23 mm in diameter) a second nodule was noted. These data suggested the eventuality of maconodular adrenocortical hyperplasia in long-standing Cushing's disease. We discuss the implications of this finding for diagnosis, treatment and follow-up.

  4. Laugier-Hunziker syndrome - Case report*

    PubMed Central

    Lalosevic, Jovan; Zivanovic, Dubravka; Skiljevic, Dusan; Medenica, Ljiljana

    2015-01-01

    Laugier-Hunziker syndrome is a rare, acquired disorder characterized by lenticular hyperpigmentation of the oral mucosa and longitudinal melanonychia. We present the case of a 63-year-old female with progressive, asymptomatic hyperpigmentation of buccal mucosa and a 7-year history of hyperpigmentation in several fingernails. Laugier-Hunziker syndrome was diagnosed based on the clinical features presented, dermoscopic findings and exclusion of underlying systemic diseases. Laugier-Hunziker syndrome is regarded as a diagnosis of exclusion. By identifying Laugier-Hunziker syndrome, other, more severe syndromes associated with hyperpigmentations can be excluded, namely Addison’s disease and Peutz-Jeghers syndrome. PMID:26312723

  5. Laugier-Hunziker syndrome--Case report.

    PubMed

    Lalosevic, Jovan; Zivanovic, Dubravka; Skiljevic, Dusan; Medenica, Ljiljana

    2015-01-01

    Laugier-Hunziker syndrome is a rare, acquired disorder characterized by lenticular hyperpigmentation of the oral mucosa and longitudinal melanonychia. We present the case of a 63-year-old female with progressive, asymptomatic hyperpigmentation of buccal mucosa and a 7-year history of hyperpigmentation in several fingernails. Laugier-Hunziker syndrome was diagnosed based on the clinical features presented, dermoscopic findings and exclusion of underlying systemic diseases. Laugier-Hunziker syndrome is regarded as a diagnosis of exclusion. By identifying Laugier-Hunziker syndrome, other, more severe syndromes associated with hyperpigmentations can be excluded, namely Addison's disease and Peutz-Jeghers syndrome.

  6. Post-traumatic extrapyramidal syndrome: case report.

    PubMed

    Della Sala, S; Mazzini, L

    1990-02-01

    We report the case of a young man with possible post-traumatic extrapyramidal syndrome. Some features of this case have a bearing on the controversy surrounding the existence of post-traumatic Parkinson disease.

  7. Reported Cases of HPS (Hantavirus Pulmonary Syndrome)

    MedlinePlus

    ... message, please visit this page: About CDC.gov . Hantavirus Share Compartir Reported Cases of HPS HPS in ... 6, 2016, a total of 690 cases of Hantavirus Pulmonary Syndrome have been reported in the United ...

  8. Basal cell nevus syndrome: a case report.

    PubMed

    Ocholla, T J; Guthua, S W; Kimaro, S S

    1994-11-01

    A case is reported of a 13 year old Kenyan girl who presented at the Kenyatta National Hospital Dental Clinic with multiple mandibular and maxillary cysts, cutaneous lesions and mandibular prognathism. This combination of clinical and radiographic features led to a diagnosis of basal cell nevus syndrome. This paper is the first reported case of the syndrome in Kenya. The significance of thorough clinical inspection and radiographic screening of suspected cases is discussed. PMID:7859664

  9. Gorlin-Goltz Syndrome: A Rare Case

    PubMed Central

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

    2015-01-01

    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

  10. Williams-Beuren's Syndrome: A Case Report

    PubMed Central

    Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

    2012-01-01

    Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem. PMID:22927862

  11. Mediastinal syndrome: A report of three cases

    PubMed Central

    Zardi, Enrico Maria; Pipita, Maria Elena; Afeltra, Antonella

    2016-01-01

    Mediastinal syndromes are a group of disorders involving the anatomical structures of the mediastinum. An increase in the incidence of this syndrome has been observed following the widespread use of diagnostic imaging. In the present study, three different cases of mediastinal syndrome, one of which was complicated by superior vena cava syndrome, are discussed. The treatment in the three cases was dependent on the etiology. While a patient with goiter experienced resolution of the symptoms following thyroidectomy, and a patient with lymphoma experienced beneficial effects following medical treatment, the patient with lymph node metastasis caused by a gastric tumor succumbed to the disease. In conclusion, the present case reports demonstrated that mediastinal syndrome is a life threatening condition whose prognosis depends on the underlying cause. PMID:27698718

  12. Mediastinal syndrome: A report of three cases

    PubMed Central

    Zardi, Enrico Maria; Pipita, Maria Elena; Afeltra, Antonella

    2016-01-01

    Mediastinal syndromes are a group of disorders involving the anatomical structures of the mediastinum. An increase in the incidence of this syndrome has been observed following the widespread use of diagnostic imaging. In the present study, three different cases of mediastinal syndrome, one of which was complicated by superior vena cava syndrome, are discussed. The treatment in the three cases was dependent on the etiology. While a patient with goiter experienced resolution of the symptoms following thyroidectomy, and a patient with lymphoma experienced beneficial effects following medical treatment, the patient with lymph node metastasis caused by a gastric tumor succumbed to the disease. In conclusion, the present case reports demonstrated that mediastinal syndrome is a life threatening condition whose prognosis depends on the underlying cause.

  13. Exophthalmos Myxedema Acropachy Syndrome: A Case Report

    PubMed Central

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

    2014-01-01

    Abstract Exophthalmos, myxedema, and acropachy are collectively named Exophthalmos myxedema acropachy (EMA) syn-drome, which is a rare syndrome associated with hypertcardiotrophia. Among patients with hyperthyreosis, EMA has an incidence less than 1%. Here, we reported a case of EMA and explored its diagnosis and treatment. PMID:26060688

  14. Treacher Collins syndrome: a case report.

    PubMed

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

    2013-05-24

    Treacher Collins syndrome is a rare autosomal dominant disorder of craniofacial development. The fully expressed phenotype exhibits characteristic dysmorphic features involving the face, eyes, mandible and ears. We report a case of a 17-year-old woman presenting with the typical orofacial implications of this syndrome.

  15. A new case of MOMO syndrome.

    PubMed

    Wallerstein, Robert; Sugalski, Rachel D

    2010-01-01

    MOMO syndrome, a condition described in three earlier patients, is a constellation of macrosomia, obesity, macrocephaly, and ocular abnormalities as the main findings. We report a 6-year-old child with these findings as well as significant developmental issues, delayed bone age, clavicular pseudoarthrosis, and straight femurs. We believe that this child should be considered as having MOMO syndrome. Careful consideration of his facial features shows some overlap with Kabuki syndrome. Description of this case may help to better elucidate the clinical features of MOMO syndrome.

  16. A new case of a LUMBAR syndrome.

    PubMed

    Golabi, Mahin; An, Andrew C; Lopez, Christina; Lee, Lauren; Kwong, Michael; Hall, Bryan D

    2014-01-01

    LUMBAR syndrome (lower body congenital infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) is a rare association between infantile hemangiomas of the lower half of the body and regional congenital anomalies. Since 1986, 53 cases have been reported and no etiology has been identified. We report on the 54th case in a male infant and review the literature concerning the manifestations of the LUMBAR syndrome.

  17. Sotos syndrome: a case report.

    PubMed

    Gomes-Silva, Jaciara Miranda; Ruviére, Denise Belucio; Segatto, Regina Aparecida Saiani; de Queiroz, Alexandra Mussolino; de Freitas, Aldevina Campos

    2006-01-01

    Sotos Syndrome is a genetic condition characterized by accelerated bone development, abnormal craniofacial morphology and psychomotor developmental retardation. The behavioral problems usually associated with the syndrome include poor social skills, anxiety and/or irritability. Oral findings include prognathism and a high-arched palate with premature eruption of the teeth. Delayed psychomotor development increases the risk for caries. A personalized preventive treatment plan with close supervision of the patient's oral health care is required. This paper documents a child diagnosed with Sotos Syndrome and describes the primary clinical features, the disease-specific craniofacial, oral and dental findings, and dental care management of this patient.

  18. Teebi hypertelorism syndrome: additional cases.

    PubMed

    Machado-Paula, Ligiane Alves; Guion-Almeida, Maria Leine

    2003-03-01

    We report on two unrelated Brazilian boys who have craniofacial and digital anomalies resembling those reported with Teebi hypertelorism syndrome. Additional features such as cleft lip and palate, large uvula, atypical chin and abnormal scapulae were observed.

  19. A Bad Case of Good's Syndrome.

    PubMed

    Tachdjian, Raffi; Keller, Janet J; Pfeffer, Michael

    2014-12-01

    Good's syndrome is a relatively rare immunodeficiency condition that presents in the fourth or fifth decade of life and is defined by hypogammaglobulinemia in the setting of a thymoma. The humoral defect may be severe enough to cause an absence in B cells, with a consequent recurrence of sinopulmonary disease, chronic non-infectious diarrhea and opportunistic infections. The prognosis in patients with Good's syndrome appears to be worse than in those with X-linked agammaglobulinemia (XLA) and common variable immune deficiency (CVID). There have only been three cases of Good's syndrome associated with mycobacterium, and only one case with a cavitary lesion in the lungs. We present here a unique case of Good's syndrome with a non-mycobacterial cavitary lesion.

  20. Treacher Collins syndrome: a case review.

    PubMed

    Jensen-Steed, Ginger

    2011-12-01

    Treacher Collins syndrome is named after the English surgeon Edward Treacher Collins, who initially described the syndrome's traits in 1900. This rare autosomal dominant disorder affects approximately 1:50 000 live births. It primarily affects the development of facial structures through a mutation in the TCOF1 gene found at the 5q32-33.1 loci. While common facies and phenotype can be described with this syndrome, the gene has a wide variation of expressivity, thus making the diagnosis of mild cases challenging. This study involves a term female diagnosed with Treacher Collins syndrome, who was also diagnosed with Tracheal Esophageal Fistula. She is expected to be of normal intelligence but, as is typical for Treacher Collins syndrome, has conductive hearing loss and therefore is at risk for developmental delay. This article describes her hospital course and outcomes thus far and is intended to guide the bedside practitioner in recognition and guidance of families in the future.

  1. Glucocorticoid hypersensitivity syndrome--a case report.

    PubMed

    Krysiak, R; Okopien, B

    2012-11-01

    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.

  2. Cerebral salt wasting syndrome: a case report.

    PubMed

    Hegde, R M

    1999-06-01

    A case of hyponatraemia associated with subarachnoid haemorrhage is presented. The provisional diagnosis of an inappropriate antidiuresis was made and treatment with fluid restriction was instituted. However the patient continued to deteriorate as the diuresis continued and the hyponatraemia worsened, resulting in hypovolaema. The salt wasting syndrome was subsequently diagnosed and saline and fludrocortisone (0.2 mg/day) was initiated, reducing the renal salt loss, increasing the plasma sodium and improving the neurological status of the patient. Cerebral salt wasting syndrome is an important and under-recognised cause of hyponatraemia in neurosurgical patients, particularly in patients with subarachnoid hemorrhage. It is essential to differentiate it from the syndrome of inappropriate antidiuretic hormone secretion to avoid complications of hypovolaemia and reduced cerebral perfusion as illustrated by this case. Brain natriuretic peptide may be responsible for this syndrome although this requires further investigation.

  3. Congenital bilateral perisylvian syndrome: a case study.

    PubMed

    Donders, Jacobus; Mullarkey, Sr Kathryn; Allchin, Joel

    2009-02-01

    We report the case of a 14-year-old boy with bilateral congenital perisylvian syndrome as evidenced by polymicrogyria in the left and right frontotemporal regions, pseudobulbar paresis, seizures, and spastic diplegia. This is the first description of comprehensive neuropsychological assessment in a child with this syndrome. The results reflect significant impairments in auditory processing and independent learning and retention, but relatively preserved cognitive performance on interactive tasks involving frequent feedback and redirection. The findings are interpreted in the context of the neuropathology of this syndrome, with an emphasis on pragmatic implications for rehabilitation. PMID:18618376

  4. Case study: the painful os trigonum syndrome.

    PubMed

    Brown, G P; Feehery, R V; Grant, S M

    1995-07-01

    The painful os trigonum syndrome is one cause of posterolateral ankle pain. This syndrome is most prevalent in athletes who perform frequent and/or forceful plantar flexion. The painful os trigonum may be misdiagnosed as Achilles and/or peroneal tendinitis. In this case, the patient was misdiagnosed for 15 months and treated for tendinitis. The appropriate clinical tests to evaluate the os trigonum as a source of posterolateral ankle pain are outlined. The surgical and postoperative management for the patient are discussed. Clinicians should be aware of the painful os trigonum syndrome as a possible source of posterolateral ankle pain.

  5. Silver-Russell Syndrome: A Case Report

    PubMed Central

    Kumar, Sunil; Jain, AP; Agrawal, Sachin; Chandran, Sindu

    2008-01-01

    A 15-year-old male boy with hemihypertrophy (left side) of the body was admitted in the hospital with the history of repeated attacks of convulsion. The patient was diagnosed as Silver-Russell syndrome on clinical ground. Silver-Russell syndrome (SRS) is a very rare genetic disorder that appears no later than early childhood. This is usually characterized by asymmetry in the size of the two halves or other parts of the body. Silver-Russell Syndrome occurs mostly in isolated cases because of sporadic genetic changes (mutations) for no apparent reason. For lack of facilities we were not able to do genetic study. PMID:18992170

  6. Sturge-Weber syndrome - A case report.

    PubMed

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

    2015-01-01

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

  7. Filippi Syndrome: Report of a Rare Case

    PubMed Central

    Goyal, Lata; Bhakhri, Bhanu Kiran; Chug, Ashi

    2015-01-01

    Filippi syndrome is an autosomal recessive condition characterized by syndactyly of fingers and toes, microcephaly, growth retardation and abnormal facies. We are describing a boy who presented with syndactyly, mental retardation, microcephaly, depressed nasal bridge and growth retardation. In addition he had some dental abnormalities like missing bilateral lateral incisors and delayed eruption of teeth. We concluded it to be Filippi syndrome by studying pathognomic clinical features and reviewed the literature. This is the second case report from India. PMID:26813917

  8. A rare case of the lenz syndrome.

    PubMed

    T, Sohil; K, Ketki; M S, Rukmini; K, Nutan; M, Poornima

    2013-02-01

    We are reporting here, a case of the Lenz syndrome in a neonate who was brought to the Paediatric OPD, Kasturba Medical College Hospital, Attavar, Mangalore India, with the complaints of poor suckling since birth and abnormal facial features. Altogether, the characteristic congenital abnormal findings in Lenz syndrome, which comprise of microophthalmia, ear anomalies, microcephaly, skeletal and digital deformities, and urogenital malformations were observed, with an exception of a dental anomaly. Dental abnormalities were not pertinent, as the patient was a neonate.

  9. An unusual case of nephrotic syndrome

    PubMed Central

    Sahay, M.; Vali, P. S.; Ismal, K.; Gowrishankar, S.; Padua, M. D.; Swain, M.

    2016-01-01

    Nephrotic syndrome can be rarely due to inherited disorders of enzymes. One such variety is lecithin cholesterol acyltransferase deficiency. It leads to accumulation of unesterified cholesterol in the eye and other organs. We report a case of nephrotic syndrome with cloudy cornea and hypocholesterolemia with foam cells and lipid deposits on renal biopsy. Awareness about this rare disease may help in the early institution of specific measures to prevent progression to end-stage renal disease. PMID:26937082

  10. Cockayne syndrome: a case report.

    PubMed

    O'Brien, F C; Ginsberg, B

    1994-08-01

    A 4-year-old female with Cockayne syndrome presented for cataract extraction under general anesthesia. She was thin and frail; her neck, epiglottis and larynx were stiff; she was deaf and blind; and she could not speak, sit unaided, or perspire. At the time of her admission, she weighed 5.5 kg. Cockayne syndrome is a disease of childhood characterized by mental retardation and premature aging. Although the underlying abnormality appears to be autosomal recessive inheritance or metabolic (possibly thymic) dysfunction, there is no consensus on etiology. The multiple organ involvement carries significant implications for the anesthetist. Intubation can be technically difficult, and care of the skin can be problematic. Essential hypertension, hepatic deficiencies, osteoporosis, deafness, blindness, and other effects of premature aging may be encountered making perioperative management a challenge. PMID:7810287

  11. [Malignant hyperthermia syndrome: case report].

    PubMed

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

    2015-04-01

    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

  12. A Case of Male Goltz Syndrome

    PubMed Central

    Ghoshal, Bhaswati; Lahiri, Subhrajit; Nandi, Debabrata

    2012-01-01

    We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported. PMID:23119212

  13. A Second Case of Gobello Nevus Syndrome

    PubMed Central

    Tadini, Gianluca; Rossi, Luisa Carlotta; Faure, Elisa; Besagni, Francesca; Boneschi, Vinicio; Esposito, Susanna; Brena, Michela

    2016-01-01

    An uncommon type of epidermal nevus characterized by hyperpigmented hyperkeratotic bands following a Blaschko-linear pattern and generalized follicular hyperkeratosis were observed in a 17-year-old male patient who additionally showed tufted hair folliculitis on the scalp and clinodactyly of the fifth finger of both hands. The combination of epidermal nevus with skeletal abnormalities was first described by Gobello et al. [Dermatology 2000;201:51–55] as a new epidermal nevus syndrome that was named after the first author of this work. Our case shows identical clinical and histopathological features and represents the second case of this rare syndrome reported in the literature. PMID:27194976

  14. MOMO syndrome: a possible third case.

    PubMed

    Zannolli, R; Mostardini, R; Hadjistilianou, T; Rosi, A; Berardi, R; Morgese, G

    2000-10-01

    This report describes a 5-year-old girl, mildly mentally retarded, with the following characteristics: macrocephaly; severe obesity; ocular abnormalities (right optic disk coloboma and left choroidal coloboma); short stature; and recurvation of the femur. The case is sporadic with no consanguinity between the parents. The condition was diagnosed tentatively as MOMO syndrome (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) (MIM, 157980), because of the presence of short stature, in contrast with the large stature of the only two previously described cases. It is the third possible example of this rare syndrome to be described in the literature, with some new clinical findings presented.

  15. Neonatal Marfan Syndrome: Report of Two Cases

    PubMed Central

    Ghandi, Yazdan; S.Zanjani, Keyhan; Mazhari-Mousavi, Seyed-Eshagh; Parvaneh, Nima

    2013-01-01

    Background Neonatal Marfan syndrome is a rare and severe phenotype of this disease. A poor prognosis is anticipated due to the high probability of congestive heart failure, and mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management at an early age. Case Presentation We present two consecutive patients with this disease who are the first reported cases from Iran to the best of our knowledge. Unfortunately both of them died shortly after diagnosis. Conclusion Neonatal Marfan syndrome is reported from Iran and has a poor prognosis like the patients reported from elsewhere. PMID:23549323

  16. Rapunzel Syndrome: A Rare Postpartum Case

    PubMed Central

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

    2013-01-01

    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

  17. Kleine–Levin Syndrome: A case report☆

    PubMed Central

    de Araújo Lima, Taís Figueiredo; da Silva Behrens, Nilce Sanny Costa; Lopes, Eduardo; Pereira, Danielle; de Almeida Fonseca, Hassana; Cavalcanti, Paola Oliveira; Pradella-Hallinan, Marcia; Castro, Juliana; Tufik, Sergio; Coelho, Fernando Morgadinho Santos

    2014-01-01

    The Kleine–Levin Syndrome is a differential diagnosis for patients with diurnal excessive sleepiness and a suspicion of narcolepsy. It is characterized by paroxysmal attacks of diurnal excessive sleepiness, associated with one or more symptoms of hyperphagia, hypersexuality, coprolalia and copropraxia. During crisis intervals, there are no symptoms. This pathology predominantly manifests itself in teenagers, being more frequent among males. The course of this disease is unpredictable, with variable duration and frequency. The most accepted physiopathology is that of a hypothalamic dysfunction, although and recently, there has appeared a hypothesis of a post-infectious autoimmune disorder. These patients show an elevated body mass index, which can predispose to association with comorbidities such as the sleep obstructive apnea syndrome. Treatment involves medications with different effects, but there is no specific and effective therapy. Our article shows a classic case of Kleine–Levin Syndrome associated with sleep obstructive apnea syndrome, a rare association in the literature. PMID:26483915

  18. [Genetic diagnostic testing in inherited retinal dystrophies].

    PubMed

    Kohl, S; Biskup, S

    2013-03-01

    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.

  19. Angelman Syndrome: A Case Report.

    PubMed

    Ashrafzadeh, Farah; Sadrnabavi, Arianeh; Akhondian, Javad; Beiraghi Toosi, Mehran; Mohammadi, Mohammadhassan; Hassanpour, Kazem

    2016-01-01

    Objective Angelman syndrome (AS) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. It occurs due to an expression deletion in 15q11-q13 chromosome. In this article, we present an eight yr boy referred to Pediatrics Neurologic Clinic Mashhad, Iran for speech delay. He had abnormal behavior ataxia unusual laughing facial expression intellectual disability and mandibular prognathism. Metabolic screening tests and brain MRI were normal. Genetic analysis was pathognomonic for AS. PMID:27247589

  20. Middle aortic syndrome: an atypical case--a case report.

    PubMed

    Adovasio, R; Canci, U

    2000-06-01

    This case concerns a 61-year-old woman presenting with middle aortic syndrome treated by an aortoaortic thoracoabdominal polytetrafluoroethylene bypass and a right renal Dacron bypass. The case was atypical because of the patient's advanced age at the time of clinical presentation.

  1. [Plummer-Vinson syndrome: a case report].

    PubMed

    Dias, Iana Silva; Costa, Francisco Assis; Borges, Alana Costa; Correia, Edenilce Evangelista; Macedo, Márcio Falcão

    2013-01-01

    We present a case of Plummer-Vinson syndrome, which is a rare condition nowadays. The diagnosis was made after years of the disease, many doctors having attended the patient. The treatment consisted of oral supplementation of iron and endoscopic dilatations. The patient is asymptomatic.

  2. [Hepatopulmonary syndrome: case report and literature review].

    PubMed

    De Santis, Michele; Vaz Rodrigues, Luis; Matos, Fernando

    2010-01-01

    Hepatopulmonary syndrome is an important complication of chronic liver disease occurring in 16 24% of patients. It is characterized by an increase in alveolar -capillary gradient, with or without hypoxemia, due to intrapulmonary vasodilatation. The course of the disease is progressive and associated with increased morbidity and mortality. There is no effective medical treatment and liver transplant is a priority. To exemplify the authors present the case of a 39 year -old male patient sent to the Pulmonology outpatient clinic and presenting with secondary polycythemia and progressive exertional dyspnoea. Clinical investigation identified a hepatopulmonary syndrome.

  3. Anterior compartment syndrome: a case report.

    PubMed

    Pearl, A J

    1981-01-01

    The chronic form of the anterior compartment syndrome can be overlooked if the symptoms of leg pain are attributed to shin splints. Herein is presented a case report which I feel represents an acute exacerbation of the chronic form of anterior compartment syndrome in a long-distance runner secondary to bleeding into the extensor digitorum longus muscle. Chronic anterior compartment syndrome can be a disabling injury which may require a fasciotomy, depending upon the severity and duration of the patient's symptoms and the intracompartmental pressures. The lay term "shin splints" should be separated from medical use, and a more reliable assessment of the etiology of the patient's symptoms should be made. The term shin splints should be utilized only for pain localized to the posterior medial border of the tibia at the origin of the posterior tibialis muscle.

  4. A Case of Laugier-Hunziker Syndrome.

    PubMed

    Kim, Eun Jung; Cho, Sang Hyun; Lee, Jeong Deuk

    2008-09-01

    Laugier-Hunziker syndrome is a rare idiopathic acquired hyperpigmentation of oral mucosa and lips which is often associated with longitudinal melanonychia. This condition is known to be an entirely benign disease with no systemic manifestations. Herein we report a case of a 54-year-old woman presenting with a 7-year history of asymptomatic oral pigmentation and linear pigmented streaks of several fingernails. Histological examination taken from the mucosal lesion of tongue revealed increased pigmentation at the epithelial basal layer and a few melanophages in the submucosa. The lack of a family history coupled with the absence of any polyps on the endoscopic examinations of upper and lower bowel as well as the clinical features with late onset were all in favor of a diagnosis of Laugier-Hunziker syndrome. The significance of this disease is due to the need to differentiate this disorder from other pigmentary disorders of the oral mucosa, especially Peutz-Jeghers syndrome.

  5. Case Report: Atypical Cornelia de Lange Syndrome.

    PubMed

    Leanza, Vito; Rubbino, Gabriella; Leanza, Gianluca

    2014-01-01

    Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy. PMID:26834972

  6. A case of Lenz microphthalmia syndrome.

    PubMed

    Ozkinay, F F; Ozkinay, C; Yüksel, H; Yenigun, A; Sapmaz, G; Aksu, O

    1997-07-01

    Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dilatation of the lateral ventricles. The patient, a 13 year old male, was referred to our hospital by a dental hospital for genetic counselling. On physical examination, height, weight, and head circumference were below the 3rd centile and he had brachymicrocephaly, a preauricular tag, microphthalmia, missing teeth, narrow shoulders, long, proximally placed thumbs, hypospadias, cryptorchidism, and a normal IQ. Ophthalmological examination showed microcornea, sclerocornea, absence of the pupil, no vision in the left eye and decreased vision and a small pupil in the right eye in addition to his bilateral microphthalmia. Cranial MRI showed dilatation of the lateral ventricles and dysgenesis of the corpus callosum.

  7. PLATEAU IRIS SYNDROME--CASE SERIES.

    PubMed

    Feraru, Crenguta Ioana; Pantalon, Anca Delia; Chiselita, Dorin; Branisteanu, Daniel

    2015-01-01

    Plateau iris is characterized by closing the anterior chamber angle due to a large ciliary body or due to its anterior insertion that alters the position of iris periphery in respect to the trabecular meshwork. There are two aspects that need to be differentiated: plateau iris configuration and plateau iris syndrome. The first describes a situation when the iris root is flat and the anterior chamber is not shallow, the latter refers to a post laser iridotomy condition in which a patent iridotomy has removed the relative pupillary block, but goniscopically confirmed angle closure recurs without central shallowing of the anterior chamber. Isolated plateau iris syndrome is rare compared to plateau iris configuration. We hereby present two case reports of plateau iris syndrome in young patients who came to an ophthalmologic consult by chance.

  8. Case Report: Atypical Cornelia de Lange Syndrome

    PubMed Central

    Leanza, Vito; Rubbino, Gabriella; Leanza, Gianluca

    2015-01-01

    Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy. PMID:26834972

  9. Papillon–Lefevre syndrome: A case report

    PubMed Central

    Pavankumar, Kalwa

    2010-01-01

    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–Lefèvre syndrome. The clinical presentation, differential diagnosis, complications and management of this syndrome are discussed. PMID:24151407

  10. A case of Plummer-Vinson syndrome in childhood.

    PubMed

    Anthony, R; Sood, S; Strachan, D R; Fenwick, J D

    1999-10-01

    The Plummer-Vinson syndrome is characterized by an association of dysphagia, iron-deficiency anemia, and esophageal webs. The authors report the case of a 6 year old with Plummer-Vinson syndrome. Plummer-Vinson syndrome usually occurs in adults, rarely in adolescents, however, there have been no previous reports in the English-language literature of the syndrome occurring in childhood.

  11. Intrapartum diagnostic of Roberts syndrome - case presentation.

    PubMed

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

    2015-01-01

    Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission. PMID:26193234

  12. Perrault syndrome - a rare case report.

    PubMed

    Sampathkumar, Geethalakshmi; Veerasigamani, Narendrakumar

    2015-03-01

    Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfanoid habitus and central nervous system findings have also been reported. Herein we report a case of sporadic Perrault syndrome in 18-year-old female who presented to our hospital with deaf mutism and primary amenorrhoea. On evaluation, the patient had hypergonadotropic hypogonadism, streak gonads and a normal karyotype (46 XX). Audiologic evaluation showed sensorineural deafness. The patient was started on hormone replacement therapy. She is on regular follow up. We present this case for its infrequent incidence and also to add to the ever expanding clinical spectrum of this disease. PMID:25954653

  13. Perrault Syndrome – A Rare Case Report

    PubMed Central

    Narendrakumar, Veerasigamani

    2015-01-01

    Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfanoid habitus and central nervous system findings have also been reported. Herein we report a case of sporadic Perrault syndrome in 18-year-old female who presented to our hospital with deaf mutism and primary amenorrhoea. On evaluation, the patient had hypergonadotropic hypogonadism, streak gonads and a normal karyotype (46 XX). Audiologic evaluation showed sensorineural deafness. The patient was started on hormone replacement therapy. She is on regular follow up. We present this case for its infrequent incidence and also to add to the ever expanding clinical spectrum of this disease. PMID:25954653

  14. A case report of Evans Syndrome.

    PubMed

    Dosi, R V; Ambaliya, A P; Patell, R D; Patil, R S; Shah, P J

    2012-01-01

    Evans Syndrome (ES) is the rare simultaneous or subsequent development of immune thrombocytopenia purpura (ITP) and autoimmune hemolytic anemia (AIHA). It portends a poorer prognosis and a more aggressive line of management than either condition presenting alone. Here we report a case of a young female who presented with both bleeding and acute decompensated anemia. Although she was successfully treated, mystery still shrouds the etiology, pathophysiology, as well as line of management of this rare and enigmatic disease.

  15. A pediatric case of ramsay hunt syndrome.

    PubMed

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

    2014-01-01

    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

  16. [Phallin syndrome. Reports on 28 cases].

    PubMed

    Ghiringhelli, L; Ceriani, A; Lepore, G; Moda, S

    1981-09-29

    28 cases of phallinic syndrome have been studied: 24 out of them were from amanita phalloides poisoning and 4 from amanita verna poisoning. After a lag phase lasting from 7 to 30 hours, symptomatology characterized by starting gastroenteric troubles as vomit, diarrhea, abdominal cramps, meteorism and pain following abdomen palpation. In one case the syndrome started with parasympathicomimetic crisis, probabily due to ingested amanita containing muscarinic type poison. Subsequent evolution of clinical picture included signs of hepatic and renal involvement. As far as laboratory diagnosis is concerned, high levels of serum aminotransferases were found and, less frequently, hyperbilirubinmia and high BUN levels occurred. In severe cases, in addition, lowered values for plasma prothrombine, fibrinogen and cholinesterase were found. Low therapeutic effect followed rehydration, equilibration of electrolytic unbalance and administration of thioctic acid, coagulants and so on. As a matter of fact 3 out or 28 patients, treated only with such therapy, died. On the contrary good therapeutic effect followed to peritoneal dialysis, in two cases coupled to exchange transfusion: 10 patients were treated in such a way and no one died but all of them quickly recovered. Forced diuresis also appeared greatly useful and practical in therapeutic treatment of phallinic syndrome: results compared favourably with those obtained by means of peritoneal dialysis. As a matter of fact 15 patients, 5 of them having ingested a great amount of amanita phalloides, were treated with forced diuresis and no one of them died. Finally, the need is stressed for a very quick therapeutic intervention (exchange transfusion; plasmapheresis; peritoneal dialysis; forced diuresis, and so on) in order to lower the plasma concentration of the toxins responsible for the phallinic syndrome. Only in such a way diffusion of toxins from blood to tissues is avoided.

  17. Proteus syndrome: A rare case report.

    PubMed

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

    2012-09-01

    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

  18. Stiff-Person Syndrome: Case Series

    PubMed Central

    Jung, Yu Jin; Jeong, Han G.; Kim, Ryul; Kim, Han-Joon; Jeon, Beom S.

    2014-01-01

    Stiff-person syndrome (SPS) is a rare disorder, characterized by progressive fluctuating muscular rigidity and spasms. Glutamic acid decarboxylase (GAD) antibody is primarily involved in the pathogenesis of SPS and SPS is strongly associated with other autoimmune disease. Here we report three cases of patients with classical SPS finally confirmed by high serum level of GAD antibodies. All of our patients respond favorably to gamma amino butyric acid-enhancing drugs and immunotherapies. PMID:24926406

  19. Rare case of orofaciodigital syndrome type I

    PubMed Central

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

    2013-01-01

    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

  20. [Ocular ischemic syndrome--a case report].

    PubMed

    Zemba, M; Avram, Corina Ioana; Ochinciuc, Uliana; Stamate, Alina Cristina; Camburu, Raluca Lăcrămioara

    2013-01-01

    Ocular ischemic syndrome, also known as hypoperfusion/ hypotensive retinopathy or as ischemic oculopathy is a rare ocular disease determined by chronic arterial hypoperfusion through central retinal artery, posterior and anterior ciliary arteries. It is bilateral in 20% of the cases. Most often it appears due to severe occlusion of the carotid arteries (ICA, MCA>ECA), described in 1963 by Kearns and Hollenhorst. Occasionally it can be determined by the obstruction of ophtalmic artery or some arterities (Takayasu, giant cell arteritis). The risk factors are: age between 50-80 years, males (M:F = 2:1), arterial hypertension, diabetes, coronary diseases (5% of the cases develop ocular ischemic syndrome), vascular stroke, hemodialysis. The case we present is of an 63 years old man known with primary arterial hypertension, hypercholesterolemia, diabetes type 2 non insulin dependent and diagnosticated with ischemic cerebral stroke and bilateral obstruction of internal carotid arteries in march 2010, who is presenting for visual impairment in both eyes. The imaging investigations show important carotid occlusion and at the ophthalmologic evaluation there are ocular hypertension and rubeosis iridis at the right eye, optic atrophy at both eyes (complete in the right eye and partial in the left eye), with superior altitudinal visual field defect in left eye. The following diagnosis was established: Chronic ocular ischemic syndrome in both eyes with Neovascular glaucoma at the right eye, Anterior ischemic optic neuropathy at the left eye and laser panphotocoagulation at the right eye was started. PMID:24386788

  1. [Ocular ischemic syndrome--a case report].

    PubMed

    Zemba, M; Avram, Corina Ioana; Ochinciuc, Uliana; Stamate, Alina Cristina; Camburu, Raluca Lăcrămioara

    2013-01-01

    Ocular ischemic syndrome, also known as hypoperfusion/ hypotensive retinopathy or as ischemic oculopathy is a rare ocular disease determined by chronic arterial hypoperfusion through central retinal artery, posterior and anterior ciliary arteries. It is bilateral in 20% of the cases. Most often it appears due to severe occlusion of the carotid arteries (ICA, MCA>ECA), described in 1963 by Kearns and Hollenhorst. Occasionally it can be determined by the obstruction of ophtalmic artery or some arterities (Takayasu, giant cell arteritis). The risk factors are: age between 50-80 years, males (M:F = 2:1), arterial hypertension, diabetes, coronary diseases (5% of the cases develop ocular ischemic syndrome), vascular stroke, hemodialysis. The case we present is of an 63 years old man known with primary arterial hypertension, hypercholesterolemia, diabetes type 2 non insulin dependent and diagnosticated with ischemic cerebral stroke and bilateral obstruction of internal carotid arteries in march 2010, who is presenting for visual impairment in both eyes. The imaging investigations show important carotid occlusion and at the ophthalmologic evaluation there are ocular hypertension and rubeosis iridis at the right eye, optic atrophy at both eyes (complete in the right eye and partial in the left eye), with superior altitudinal visual field defect in left eye. The following diagnosis was established: Chronic ocular ischemic syndrome in both eyes with Neovascular glaucoma at the right eye, Anterior ischemic optic neuropathy at the left eye and laser panphotocoagulation at the right eye was started.

  2. Moebius syndrome and narcolepsy: A case dissertation☆

    PubMed Central

    Sabaneeff, Lídia; Mendes Motta, Henrique; Castro, Juliana; Tufik, Sergio; Santos Coelho, Fernando Morgadinho

    2014-01-01

    Moebius syndrome (MS) is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy. PMID:26483899

  3. Moebius syndrome and narcolepsy: A case dissertation.

    PubMed

    Sabaneeff, Lídia; Mendes Motta, Henrique; Castro, Juliana; Tufik, Sergio; Santos Coelho, Fernando Morgadinho

    2014-03-01

    Moebius syndrome (MS) is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy. PMID:26483899

  4. [Charles Bonnet syndrome: a case presentation].

    PubMed

    Cumurcu, Tongabay; Elbozan Cumurcu, Birgül; Cam Celikel, Feryal

    2005-01-01

    Charles Bonnet syndrome comprises the triad of visual hallucinations, visual sensory deprivation, and preserved cognitive status. This paper discusses a case diagnosed as Charles Bonnet syndrome, involving visual hallucinations secondary to bilateral primary optic atrophy. An 80-year-old female with normal cognitive functions in the presence of primary optic atrophy and visual hallucinations was diagnosed with Charles Bonnet syndrome. The patient, having had poor vision since childhood, had lost it totally in the last year. Her vision had not improved following cataract operations in both eyes 6 months previously. Her vision was at the level of hand movements. In biomicroscopic examination, bilateral pseudoaphakia was found. Since fundus examination showed bilateral primary optic atrophy in the presence of visual hallucinations, a psychiatric consultation was requested. In her psychiatric examination, she had had hallucinations for the last two years, first elementary and then complex in character. Her cognitive functions were normal with no pathology in her neurologic examination. Routine investigations and neuroradiologic examinations were normal. She had no past history of any personal or familial psychiatric or systemic physical disorder. She was given olanzapine 5 mg daily and was followed up. This syndrome, defined as visual hallucinations in the presence of preserved cognitive functions and deprived vision, requires further research.

  5. Vasospastic angina and scombroid syndrome: a case report.

    PubMed

    Coppola, G; Caccamo, G; Bacarella, D; Corrado, E; Caruso, M; Cannavò, M G; Assennato, P; Novo, S

    2012-01-01

    Scombroid syndrome is a fish poisoning characterised by the onset of symptoms compatible with a pseudoallergic reaction; it is rarely also responsible of signs and symptoms of acute coronary syndromes, as demonstrated in this case report.

  6. Robinow Syndrome: A Rare Case Report and Review of Literature

    PubMed Central

    Lingappa, Ashok

    2015-01-01

    ABSTRACT Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessive group. The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism, fetal face, fetal face syndrome, fetal facies syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism-small genitalia syndrome. Covesdem syndrome was the name entitled for the recessive form previously. Here, we report a case of 8-year-old female with a autosomal recessive Robinow syndrome having skeletal and vertebral defects. How to cite this article: Soman C, Lingappa A. Robinow Syndrome: A Rare Case Report and Review of Literature. Int J Clin Pediatr Dent 2015;8(2):149-152. PMID:26379386

  7. The Rapunzel syndrome. Report of a case

    PubMed Central

    CAIAZZO, P.; DI LASCIO, P.; CROCOLI, A.; DEL PRETE, I.

    2016-01-01

    Trichobezoar is a rare pathology in which swallowed hairs accumulate in the stomach. An unusual form of bezoar extending from the stomach to the small intestine or beyond has been described as Rapunzel syndrome. Trichobezoars typically cause abdominal pain and nausea, but can also present as an asymptomatic abdominal mass, progressing to abdominal obstruction and perforation. Trichobezoar with Rapunzel syndrome is an uncommon diagnosis. It is predominantly found in emotionally disturbed or mentally retarded young people. The diagnosis may be suspected in young females with abdominal pain, epigastric mass and malnutrition, who have a history of trichophagia. The Authors present a case of successful laparotomy removal of a giant gastro-duodenal trichobezoar in a 9-year-old girl with a history of trichotillophagia. Physical examination revealed diffuse abdominal pain and an epigastric mass. Psychodynamic aspects, clinical manifestations, diagnosis and therapautic strategies are discussed. PMID:27381697

  8. A Rare Case of Mucopolysaccharidosis: Hunter Syndrome

    PubMed Central

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

    2015-01-01

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

  9. Cornelia de Lange syndrome: a case study.

    PubMed

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

    2009-02-01

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

  10. Rubinstein-Taybi Syndrome: A Case Report

    PubMed Central

    Münevveroglu, A. P.; Akgöl, B. B.

    2012-01-01

    Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, growth retardation, and mental deficiency. A seven-year-old girl had come to the Department of Pedodontics, Istanbul Medipol University, Faculty of Dentistry, Turkey, with a complaint of caries and bleeding of gingivae. The patient was mentally retarded. Extraoral features revealed distinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge, and beaked nose. Intraoral features observed were talons cusps in the upper lateral incisors, carious teeth, and plaque accumulation. Since the patient was mentally retarded, the dental treatment was done under GA. The treatment plan and dental management of this patient are discussed in this case report. PMID:22991675

  11. Exercise-induced compartment syndrome: case report.

    PubMed

    Klodell, C T; Pokorny, R; Carrillo, E H; Heniford, B T

    1996-06-01

    Exercise-induced rhabdomyolysis is a frequent event occurring after severe forms of exercise. This is usually a short-lived, uncomplicated phenomenon that is seldom of any clinical significance. The rare progression of this muscle injury to compartment syndrome is, however, a limb- and life-threatening condition that typically presents in the anterior compartment of the lower leg. A case is reported of a young man who participated in physical activity well beyond his normal level of exertion and subsequently developed bilateral lower extremity compartment syndrome requiring surgical decompression. To our knowledge, this is the only description of this complication occurring in a multicompartment, bilateral distribution. The combination of the rarity and morbidity of this condition, as well as the multitude of very common benign injuries that present in the same manner as the problem discussed, make this insult especially dangerous.

  12. Three cases of triple A syndrome (Allgrove syndrome) in pediatric surgeons' view.

    PubMed

    Erginel, Başak; Gün, Feryal; Kocaman, Hakan; Çelik, Alaadin; Salman, Tansu

    2016-04-01

    Triple A syndrome, also known as Allgrove syndrome, is a rare disease, and presents mainly in children. Its cardinal symptoms are achalasia, alacrima, and adrenocorticotropic hormone (ACTH) insensitivity. We report three cases of Triple A syndrome. Our aim is to inform pediatric surgeons about the existence of this rare syndrome and to highlight the need for suspicion of alacrima and ACTH insensitivity in cases of pediatric achalasia. Triple A syndrome should be considered in patients presenting with achalasia. Alacrima should be investigated by a Schirmer test, and adrenal dysfunction should be tested in cases of suspected triple A. PMID:27385299

  13. Broken Heart Syndrome: A Typical Case.

    PubMed

    Therkleson, Tessa; Stronach, Shona

    2015-12-01

    This case describes a combination external treatment for "Broken Heart Syndrome" that includes a lavender footbath, massage using moor extract, and oxalis ointment to the abdomen applied by an Anthroposophic nurse for a specific personality type. Lavender footbaths have been used since ancient times for relaxation and calming, while moor extract has been used medicinally in Europe since the middle ages for warmth and environmental protection. Rhythmical massage using moor extract and oxalis ointment poultice to the abdomen are part of the tradition of Anthroposophic nursing when managing stress induced by emotional and physical trauma. An elderly lady with specific characteristics diagnosed as Broken Heart Syndrome received one treatment a week for 4 weeks given by an Anthroposophic nurse at an integrative medical center. Between treatments, education was given to enable self-treatment in the home. The nursing treatments, each using lavender footbaths, moor extract massage, and oxalis ointment poultice to the abdomen, proved very effect, and no negative effects were reported. External applications need to be considered by nurses caring for specific personality types with Broken Heart Syndrome. PMID:25673580

  14. A case of treacher collins syndrome.

    PubMed

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

    2013-12-01

    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.

  15. Genetics of Obesity.

    PubMed

    Srivastava, Apurva; Srivastava, Neena; Mittal, Balraj

    2016-10-01

    Numerous classical genetic studies have proved that genes are contributory factors for obesity. Genes are directly responsible for obesity associated disorders such as Bardet-Biedl and Prader-Willi syndromes. However, both genes as well as environment are associated with obesity in the general population. Genetic epidemiological approaches, particularly genome-wide association studies, have unraveled many genes which play important roles in human obesity. Elucidation of their biological functions can be very useful for understanding pathobiology of obesity. In the near future, further exploration of obesity genetics may help to develop useful diagnostic and predictive tests for obesity treatment. PMID:27605733

  16. Asperger syndrome related suicidal behavior: two case studies.

    PubMed

    Kocourkova, Jana; Dudova, Iva; Koutek, Jiri

    2013-01-01

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

  17. Asplenia Syndrome in a Neonate: A Case Report

    PubMed Central

    Bhalla, Kapil; Yadav, Jaivinder; Mehra, Suchi

    2016-01-01

    Asplenia syndrome is a syndrome of right isomerism or attempted bilateral right sidedness. It includes congenital asplenia in association with complex congenital cyanotic heart disease and situs anomalies of the other thoracoabdominal organs. Herein we report a case of asplenia syndrome so as to highlight and refocus attention on the possibility of this rare syndrome that must be considered in a neonate presenting with congenital cyanotic heart disease. PMID:27504371

  18. Asperger syndrome related suicidal behavior: two case studies.

    PubMed

    Kocourkova, Jana; Dudova, Iva; Koutek, Jiri

    2013-01-01

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

  19. Asplenia Syndrome in a Neonate: A Case Report.

    PubMed

    Bhalla, Kapil; Singh, Jasbir; Yadav, Jaivinder; Mehra, Suchi

    2016-06-01

    Asplenia syndrome is a syndrome of right isomerism or attempted bilateral right sidedness. It includes congenital asplenia in association with complex congenital cyanotic heart disease and situs anomalies of the other thoracoabdominal organs. Herein we report a case of asplenia syndrome so as to highlight and refocus attention on the possibility of this rare syndrome that must be considered in a neonate presenting with congenital cyanotic heart disease. PMID:27504371

  20. Case study: Ganser syndrome in children and adolescents.

    PubMed

    Miller, P; Bramble, D; Buxton, N

    1997-01-01

    Six cases of the Ganser syndrome have been previously described in the literature and are reviewed here. They are imperfect representations of the originally described syndrome. This article describes a case of the Ganser syndrome in a 12-year-old boy who, after a mild head injury, presented with three of four of the core symptoms. The nature of the Ganser syndrome remains unclear, but this case study highlights dissociation and abnormal illness behavior as being important in the production of the symptoms. Classically the course is short-lived, although this report raises the possibilities of a much more chronic course. PMID:9000788

  1. Reversible Cerebral Vasoconstriction Syndrome: A Report on Three Cases.

    PubMed

    Roongpiboonsopit, Duangnapa; Kongbunkiat, Kannikar; Phanthumchinda, Kammant

    2016-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS), a recently recognized syndrome, is defined as an intermittent segmental vasospasm of cerebral arteries accompanied by thunderclap headache. The major complications of RCVS include ischemic or hemorrhagic stroke, which may cause morbidity and mortality. It is important to detect RCVS in clinical practice because misdiagnosis may lead to inappropriate treatment. In Thailand, there are only two reported cases of RCVS, which may reflect an underdiagnosis of this syndrome. To raise awareness of RCVS, we reported a case series of three RCVS cases. Two of the presented cases had interesting precipitating factors, and two cases had an unusual delayed clinical course. PMID:27455831

  2. Staphylococcal Scalded Skin Syndrome: Criteria for Differential Diagnosis from Lyell's Syndrome. Two Cases in Adult Patients

    PubMed Central

    Napoli, B.; D'Arpa, N.; D'Amelio, L.; Chimenti, S.; Pileri, D.; Accardo-Palumbo, A.; Conte, F.

    2006-01-01

    Summary A review of the relative international literature of the last few years is followed by a description of two cases of staphylococcal scalded skin syndrome in adults. As in both cases the initial diagnosis was that of Lyell's syndrome, the main criteria for the differential diagnosis of the two pathologies are considered in order to permit specific and effective treatment. PMID:21991049

  3. [Sick building syndrome: three case reports].

    PubMed

    Bogacka, E

    1999-05-01

    SBS--sick building syndrome--is a set multi-organ symptoms related to long-term staying in "sick buildings". These are modern, energy saving, air tight buildings with reduced ventilation. As a result of such construction, harmful, air-borne substances issued by interior decoration materials, air-conditioning systems and working people are cumulated. The study presents three cases of allergic patients whose original allergic illnesses got aggravated as an effect of: 1) staying in a freshly redecorated room, 2) staying in a fully air-conditioned room, 3) long-term exposition to bacteria and fungi allergens developing in old, used up filters of a car air-condition system.

  4. A case of the Rett syndrome.

    PubMed

    Brunel, R; Gilly, R

    1985-01-01

    This is a case report of the Rett syndrome in a girl with normal general and psychomotor development during the first 12 mos. Afterwards developmental stagnation and retrogression appeared which led within one yr to dementia, autism, loss of purposeful hand use, truncal ataxia and apraxia of gait. Characteristic stereotypic movements of the hands occurred, and, furthermore, rhythmic truncal balancing and episodic hyperpnea. At 2 yrs, neurological examination showed slight hypertonia and hyperreflexia of the legs without extensor plantar signs, there was relative microcephaly, and visceral examination was normal. The diagnosis was made on the basis of clinical signs: all laboratory investigations were negative except EEG which showed unspecific modifications. We didn't find hyperammonemia. No progression of the symptoms appeared in the 15 mos following the diagnosis. PMID:4061764

  5. Recurrent Hypothenar Hammer Syndrome: A Case Report.

    PubMed

    Adams, Nicholas S; Ford, Ronald D

    2016-10-01

    Hypothenar hammer syndrome (HHS) is a rare cause of digital ischemia and pain caused from repetitive trauma to the palm. Often related to occupational practices, thrombosis and embolization can occur. Treatment is often surgical and involves excision with or without reconstruction. We describe a 55 year-old, male pipe fitter previously diagnosed and treated for HHS with excision and repair using a reversed interpositional vein graft in the mid-1980's. He continued to work in the profession, which he regularly used his palm as a hammer and returned approximately 30 years later with recurrent symptoms of cold intolerance and pain. Angiography confirmed occlusion of the ulnar artery with emboli present distally. The patient was again treated with excision and reconstruction. HHS is an uncommon cause of digital ischemia. Its recurrence is even more rare. To our knowledge, this is the first described case of diagnosed and treated recurrent HHS. PMID:27595964

  6. Forensic issues in cases of Diogenes syndrome.

    PubMed

    Byard, Roger W; Tsokos, Michael

    2007-06-01

    Diogenes syndrome is a syndrome described in the clinical literature in elderly individuals characterized by social isolation and extreme squalor. A number of typical features are found in the forensic evaluation of these deaths as the cases usually initiate medicolegal investigations due to the circumstances and the lack of recorded medical histories. Examinations of the death scenes are often difficult as victim's houses are in a state of disrepair, with filth and clutter, and pet dogs may resent the intrusion of strangers. Bodies are often filthy, with parasitic infestations, and are often putrefied due to the social isolation of the deceased and the delay in the finding of the corpse. Bodies may be traumatized from postmortem animal depredation by rodents or pets (eg, cats, dogs), and injuries such as bruises and lacerations may be present from falls associated with terminal illnesses or alcoholism. Blood or putrefactive fluids may be spread throughout the house by pets. Treatable medical conditions are often present in advanced stages, and features of hypothermia may be found. Attending police may suspect robbery due to disarray of the house and homicide due to apparent "bleeding" around the body from purging of putrefactive fluids, injuries from falls, or postmortem animal activity and "blood stains" throughout the house from antemortem injuries and/or fluid spread by animals. Finally, the identification of the deceased may be compromised by decay and/or postmortem animal activity. Thus, in addition to having typical clinical manifestations, such individuals appear to form a distinct subset of forensic cases having characteristic death scene and autopsy features and presenting particular difficulties in postmortem evaluations.

  7. OLMSTED SYNDROME: REPORT OF TWO CASES

    PubMed Central

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

    2011-01-01

    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

  8. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome

    PubMed Central

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-01-01

    Introduction: In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. Case Presentation: The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. Conclusions: The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment. PMID:26949693

  9. Foix-Alajouanine Syndrome Presenting as Acute Cauda Equina Syndrome: A Case Report

    PubMed Central

    Menon, K. Venugopal; Sorour, Tamer M. M.; Raniga, Sameer B.

    2014-01-01

    Study Design Case report. Objective Present a case of Foix-Alajouanine syndrome that presented as acute cauda equina syndrome and discuss the pathophysiology and management. Methods An adult male patient developed sudden onset of back pain and leg pain with weakness of the lower limbs and bladder/bowel dysfunction typical of cauda equina syndrome. Emergency magnetic resonance imaging revealed no compressive lesion in the spine but showed tortuous flow voids and end-on blood vessels in the peridural region suggesting spinal arteriovenous malformation resulting in Foix-Alajouanine syndrome. Results The case was managed by endovascular embolization with excellent results. The pathophysiology, imaging features, management, and literature review of the syndrome is discussed. Conclusion The authors conclude that this condition may be an important differential diagnosis for cauda equina syndrome. PMID:25396108

  10. Loeffler's syndrome: an interesting case report.

    PubMed

    Ekin, Selami; Sertogullarindan, Bunyamin; Gunbatar, Hulya; Arisoy, Ahmet; Yildiz, Hanifi

    2016-01-01

    Loeffler's syndrome is an acute pneumonia with an unclear cause. One fourth of Loeffler's syndrome patients are idiopathic, although the most common etiologic causes include parasites. Asymptomatic form is usually a reversible, self-limited disease, which does not require a specific treatment regimen. We presented a 17-year-old young man with diagnosis of Loeffler syndrome.

  11. Central pontine myelinolysis in a case of alcohol dependence syndrome

    PubMed Central

    Chatterjee, Kaushik; Fernandes, Austin B.; Goyal, Sunil; Shanker, Sunitha

    2015-01-01

    Osmotic Demyelination Syndrome includes Central Pontine Myelinolysis and Extrapontine Myelinolysis. This condition has been described in cases of chronic Alcohol Dependence Syndrome and in rapid correction of hyponatremia. Though we frequently see patients with Alcohol Dependence Syndrome presenting with complicated withdrawal, Central Pontine Myelinolysis remains largely undetected and under-reported in literature. We present here a case of protracted Delirium Tremens where MRI brain revealed Central Pontine Myelinolysis. Subsequently cognitive assessment revealed significant dysfunction and brain SPECT showed hypo-perfusion of the frontal lobes. Osmotic Demyelination Syndrome should be suspected in protracted Delirium Tremens. PMID:27212829

  12. Idiopathic harlequin syndrome: a pediatric case.

    PubMed

    Jain, Puneet; Arya, Ravindra; Jaryal, Ashok; Gulati, Sheffali

    2013-04-01

    Harlequin syndrome, Harlequin sign, Holmes-Adie syndrome, and Ross syndrome lie on a spectrum of partial dysautonomias affecting facial sudomotor, vasomotor, and pupillary responses. These syndromes have imprecise clinical boundaries and overlap syndromes are known. We report a 9-year-old girl who presented with anhidrosis over the right half of her face and the left side of her body, with compensatory hyperhidrosis on the contralateral side. She was noted to have bilateral tonic pupils and normal muscle stretch reflexes with other features suggestive of autonomic dysfunction. Investigations to rule out secondary causes were noncontributory. Her clinical presentation can be categorized as partial overlap between Harlequin syndrome and Holmes-Adie syndrome. PMID:22638078

  13. [Families with recurrent cases of Waardenburg-Klein syndrome].

    PubMed

    Bliumina, M G; Moskovkina, A G

    1985-06-01

    Deaf children with the type I Waardenburg--Klein syndrome were studied. Secondary cases were found in 14 unrelated and 1 incest families. In 10 families probands and all their affected relatives had the type I Waardenburg--Klein syndrome. In 4 families patients were discovered with both type I and type II syndromes. In an incest family the proband seemed to have the type III, while his mother and father (sibs) had type II and their grandmother the type I syndrome. These results contradict the hypothesis claiming the origin of different types of Waardenburg--Klein syndrome to be due to the action of different genes. It is proposed that types I and II, or all types of the syndrome are caused by a single dominant gene. Potential mechanisms for clinical polymorphism of Waardenburg--Klein syndrome are related to incomplete penetrance and varying expression of this gene. PMID:4029612

  14. Down-Turner syndrome: case report and review.

    PubMed Central

    Van Buggenhout, G J; Hamel, B C; Trommelen, J C; Mieloo, H; Smeets, D F

    1994-01-01

    We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both Ullrich-Turner syndrome and Down's syndrome was reported in 61% of the patients. However, one has to bear in mind that several stigmata of Ullrich-Turner syndrome can also be present in patients with Down's syndrome and vice versa. In most of the patients two different cell lines were encountered, although cases with one, three, and even four different cell lines have been reported. Of 28 patients, 21 showed female external genitalia, four were phenotypically male, and three showed ambiguous genitalia. Only six patients (21%) carried a Y chromosome, which is far less than expected. Images PMID:7837259

  15. Frey's syndrome after elective thyroidectomy: a case report.

    PubMed

    Van Gorp, V; Verfaillie, G; Verborgh, C; Camu, F

    2008-01-01

    This case report documents the case of a 41-year-old Caucasian woman who developed a Frey's syndrome after elective thyroidectomy. This patient developed a sudden redness on one side of the face in the recovery room after a total thyroidectomy under general anaesthesia. All other vital signs of the patient remained normal. There were no signs of infection. After a few hours the symptoms disappeared without any treatment. Frey's syndrome is a disorder characterised by unilateral flushing or sweating of the facial skin. This syndrome can occur after parotidectomy or after trauma, injury or inflammation of the parotid, the submandibular glands, or of cervical and thoracic parts of the sympathetic trunk. Frey's syndrome normally results from aberrant regeneration of auriculotemporal nerve fibers to sweat glands in the skin. This case describes a self-limiting Frey' s syndrome after irritation of the cervical portion of the truncus sympathicus following total thyroidectomy. PMID:19051482

  16. [Lynch syndrome, Muir Torre variant: 2 cases].

    PubMed

    Castro-Mujica, María Del Carmen; Barletta-Carrillo, Claudia; Acosta-Aliaga, Marisa; Montenegro-Garreaud, Ximena

    2016-01-01

    Lynch syndrome (LS) is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6 or PMS2). Muir-Torre syndrome (MTS) is a phenotypic variant of LS that includes a predisposition to sebaceous glands tumors and keratoacanthomas. We report two patients with MTS, with more than one LS-related cancer, skin lesions, family history of cancer andmicrosatellite instability and immunohistochemistry analysis. PMID:27131946

  17. Fryns anophthalmia-plus syndrome: two rare cases.

    PubMed

    Bozkurt, O; Bidev, D; Sari, F N; Dizdar, E A; Ulu, H O; Uras, N; Oguz, S S; Canpolat, F E; Dilmen, U

    2014-01-01

    Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.

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

    PubMed Central

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

    2015-01-01

    Background Munchausen syndrome presenting with psychogenic dystonia is a rare condition. Phenomenology Shown A psychogenic dystonia case presenting with an acute onset of retrocollis, lower limb dystonia and bizarre gait was diagnosed as Munchausen syndrome. Educational Value Recognizing psychogenic dystonia avoids unnecessary investigations and provides successful treatment. PMID:27352135

  19. A case of neonatal Jeune syndrome expanding the phenotype

    PubMed Central

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

    2014-01-01

    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

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

    PubMed Central

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

    2014-01-01

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

  1. MOMO syndrome associated with autism: a case report.

    PubMed

    Giunco, C T; Moretti-Ferreira, D; Silva, A E; Rocha, S S; Fett-Conte, A C

    2008-11-04

    This is a case report of macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) associated with autism. Studies on genetic or environmental syndromes associated with autism can provide genetic markers or uncover relevant events, and are very important for the definition of autism subgroups in future molecular research.

  2. Cerebro-costo-mandibular syndrome: Report of two cases.

    PubMed

    Abdalla, Wael; Panigrahy, Ashok; Bartoletti, Stefano C

    2011-01-01

    Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome that includes a constellation of mandibular hypoplasia and posterior rib defects as its basic features. Additional features can include hearing loss, tracheal cartilage abnormalities, scoliosis, elbow hypoplasia, and spina bifida. Here we report two cases of CCMS and discuss the reported long-term outcome of the disease.

  3. Fetal urine biochemistry in antenatal Bartter syndrome: a case report.

    PubMed

    Rachid, Myriam L; Dreux, Sophie; Czerkiewicz, Isabelle; Deschênes, Georges; Vargas-Poussou, Rosa; Mahieu-Caputo, Dominique; Oury, Jean-François; Muller, Françoise

    2016-09-01

    Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation. PMID:27648267

  4. [Munchausen's syndrome: a factitious disorder? A case report].

    PubMed

    Reich, E; Kajosh, H; Verbanck, P; Kornreich, C

    2013-01-01

    Munchausen's syndrome is classified as a chronic factitious disorder with predominant physical signs and symptoms. Several symptoms are specific to this disorder, such as travelling and pseudologia fantastica. Others symptoms, such as multiple physical complaints with no organic substrate, are shared with somatoform disorders. We report a case showing how difficult it is to diagnose a Munchausen syndrome. We discuss also the opportunity to classify such a syndrome as a factitious disorder. Indeed, several authors suggest classifying Munchausen syndrome as a subtype of somatoform disorders, as those two disorders share a lot of characteristics. PMID:24505869

  5. Management of Frey syndrome using botulinum neurotoxin: a case report.

    PubMed

    Ng, Samson; Torjek, Cathy; Hovan, Allan

    2009-11-01

    Frey syndrome is manifested clinically by hemifacial flushing and sweating after a gustatory stimulus. Frey syndrome is usually secondary to traumatic injury in the parotid region and is thought to be the result of misdirected re-sprouting of damaged autonomic nerve fibres. In this case report, we highlight the clinical and psychosocial aspects of Frey syndrome from a patient"s perspective, outline the pathophysiology of the condition and current management strategies, and describe the use of botulinum neurotoxin in the treatment of Frey syndrome. PMID:19900355

  6. Silent sinus syndrome: report of a case.

    PubMed

    Habibi, Ataollah; Sedaghat, Mohammad-Reza; Habibi, Mehdi; Mellati, Ehsan

    2008-03-01

    Silent sinus syndrome (SSS) is a quite rare clinical entity characterized by unilateral enophthalmos and hypoglobus secondary to thinning and inward bowing of the maxillary sinus roof in the absence of signs or symptoms of intrinsic sinonasal inflammatory disease. We present a case of a 16-year-old female with a 10-month history of facial asymmetry due to swelling of the left cheek and ptosis of the left eye with no other symptoms. Computed tomography scans and Water's x-ray revealed an opacified left maxillary antrum with characteristic features of SSS. The patient underwent surgery and a thick maxillary sinus mucocele was found and enucleated successfully during the operation. Six-month and 2-year follow-ups after surgical treatment revealed satisfactory results and there was no need for reconstruction of the orbital floor. Although patients with SSS often initially present to ophthalmologists, oral and maxillofacial surgeons and radiologists should be familiar with this phenomenon since most of these patients will be referred to dental hospitals for further treatment.

  7. Goldenhar Syndrome: A rare case report

    PubMed Central

    Bhuyan, Ruchi; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Nayak, Bikash Bishwadarshee

    2016-01-01

    Goldenhar Syndrome or oculoauriculovertebral spectrum is a complex syndrome characterized by an association of maxillomandibular hypoplasia, deformity of the ear, ocular dermoid and vertebral anomalies and the most severe form of hemifacial microsomia. Here, we describe a 26-year-old male patient with unilateral hemifacial microsomia, preauricular ear tags, macrosomia on the right side of the face. PMID:27601832

  8. Goldenhar Syndrome: A rare case report

    PubMed Central

    Bhuyan, Ruchi; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Nayak, Bikash Bishwadarshee

    2016-01-01

    Goldenhar Syndrome or oculoauriculovertebral spectrum is a complex syndrome characterized by an association of maxillomandibular hypoplasia, deformity of the ear, ocular dermoid and vertebral anomalies and the most severe form of hemifacial microsomia. Here, we describe a 26-year-old male patient with unilateral hemifacial microsomia, preauricular ear tags, macrosomia on the right side of the face.

  9. Goldenhar Syndrome: A rare case report.

    PubMed

    Bhuyan, Ruchi; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Nayak, Bikash Bishwadarshee

    2016-01-01

    Goldenhar Syndrome or oculoauriculovertebral spectrum is a complex syndrome characterized by an association of maxillomandibular hypoplasia, deformity of the ear, ocular dermoid and vertebral anomalies and the most severe form of hemifacial microsomia. Here, we describe a 26-year-old male patient with unilateral hemifacial microsomia, preauricular ear tags, macrosomia on the right side of the face. PMID:27601832

  10. Treacher Collins syndrome: a case study.

    PubMed

    Chung, Jenny Y; Cangialosi, Thomas J; Eisig, Sidney B

    2014-11-01

    Treacher Collins syndrome is a disorder of craniofacial development with high penetrance and variable expressivity. Its incidence is approximately 1 in 50,000 live births. In this article, we describe the orthodontic treatment of an 11-year-old boy with Treacher Collins syndrome.

  11. [Moebius syndrome: therapeutic proposals from 2 cases].

    PubMed

    Braye, F; Souchere, B; Franc, C; Freidel, M

    1996-12-01

    Moebius syndrome is a congenital bilateral palsy of the sixth and seventh cranial nerves. It results a total absence of facial expression and a severe strabismus. Social life is greatly disturbed. Other anomalies may be associated, especially other cranial palsies and Poland syndrome. The etiology of this syndrome isn't clearly established. Stem necrosis secondary to a vascular deficiency is often admitted. We report two observations. We emphasize the importance of a complete maxillo-facial treatment including maxillo-mandibular anomaly. Both patient underwent orthognathic surgery. The first one for class II and the second for class III anomaly. One patient underwent a facial reanimation by temporal muscle transfer. Orthognathic surgery must be realized prior to facial reanimation. A correction of the strabismus is possible. Moebius syndrome is a rare (200 observations) but very severe malformation. Maxillofacial surgery is able to improve the morphological and relational aspect of Moebius syndrome.

  12. Walker-Warburg syndrome: a report of 3 cases.

    PubMed

    Denis, D; Gambarelli, D; Luciani, A; Aymé, S; Philip, N; Saracco, J B

    1993-01-01

    Walker-Warburg syndrome is a congenital malformation syndrome of unknown etiology which is characterized by fatal neurological lesions. It was first described by Walker in 1942 as involving agyria, hydrocephalus and eye malformations. Its etiology has been discussed in all of the articles on the subject in the literature, but the majority of the authors describe it as an autosomal recessive syndrome. Ultrasonography plays a key role in detecting a cephalic anomaly by prenatal diagnosis as in our 2 cases. The aim of this article is to report 3 new cases of Walker-Warburg syndrome in two families. Knowledge of this syndrome emphasizes both the need for ultrasonographic observation and genetic counselling for families at risk.

  13. Gorlin syndrome or basal cell nevus syndrome (BCNS): A case report.

    PubMed

    Shivaswamy, K N; Sumathy, T K; Shyamprasad, A L; Ranganathan, C

    2010-01-01

    Gorlin syndrome, also known as Basal Cell Nevus Syndrome (BCNS), is a rare autosomal dominant disorder with complete penetrance and variable expressivity. This syndrome is characterized by developmental anomalies, such as odentogenic keratocysts of the mandible and postnatal tumors, especially multiple basal cell carcinomas (BCCs). The prevalence of this syndrome is variously estimated to be 1 in 60,000 to 1 in 120,000 persons. Mutation in a tumor suppressor, the PTCH1 gene residing on long arm of Ch 9, is responsible for the development of many postnatal tumors. Patients with Gorlin syndrome show multiple abnormalities, none of which is unique to this condition. Our case had almost all the features of this rare syndrome. PMID:20875327

  14. [Sneddon's syndrome: 4 cases and a review of the literature].

    PubMed

    Abouzahir, A; Bourazza, A; Rafik, R; Karouach, K; Boutaleb, N; Ouhabi, H; Mosseddaq, R; Ohayon, V; Archane, M-I

    2003-12-01

    Sneddon syndrome is an association of livedo racemosa and cerebrovascular ischemic events generally occurring in young adults. This is an uncommon chronic progressive arterio-occlusive disorder of unknown cause involving small and medium sized vessels. We report four cases. One case was disclosed by cerebral hemorrhage. One pathogenic hypothesis suggests the involvement of an idiopathic progressive inflammatory arteriopathy or secondary thrombotic disorder comparable with antiphospholipid syndrome.

  15. [Case of combination of Beckwith-Wiedemann syndrome with West syndrome].

    PubMed

    Kuzenkova, L M; Kremenchugskaya, M R; Globa, O V; Podkletnova, T V

    2014-01-01

    Beckwith-Wiedemann syndrome (BWS) is etiologically connected with genetic/epigenetic growth dysregulation. The supposed localization of this disorder is a short arm of chromosome 11 (11p 15.5). Its prevalence is 1:13 per 700 newborns. West syndrome is an age-dependent epileptic syndrome related to a group of infantile epileptic encephalopathies and characterized by a triad of basic symptoms: series of infantile spasms, psychomotor retardation and severe paroxysmal EEG changes. The incidence of West syndrome is estimated at 1 case per 2,000-4,000 newborns. The article describes a rare clinical case: a combination of BWS with one of the types of infantile epileptic encephalopathies--West syndrome. A detailed analysis of the West syndrome progression in a female patient with BWS is given, the tactics of antiepileptic therapy is analyzed, and its complexity in terms of metabolic disorders caused by the presence of a genetic syndrome in a patient is shown. The results of a long catamnesis are described. The figures are the fragments of native electroencephalograms at the eruptive phase of West syndrome and against the background of a long-term remission. When describing the clinical case in detail, the authors actively discuss the obtained information and available literature data. The article also presents practical guidelines for the early detection of metabolic disorders in patients with infantile epileptic encephalopathies. In addition to anti-epileptic drugs, the authors propose to include a mandatory metabolic correction in the therapy complex for these patients.

  16. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

    PubMed Central

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

    2013-01-01

    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

  17. Ankyloglossia superior syndrome: Case report and updated literature review.

    PubMed

    Shay, Sophie; West, Alisha N

    2016-07-01

    Ankyloglossia superior (palatoglossal adhesion) is an extremely rare congenital condition with only 14 previously reported cases. When found in conjunction with other congenital abnormalities, such as cleft palate, gastrointestinal malformations, and limb malformations, this anomaly is considered part of ankyloglossia superior syndrome. We present a case of a newborn female found to have ankyloglossia superior syndrome. Surgical repair is also described. We review the available literature and discuss theories regarding the etiology of ankyloglossia superior syndrome. Clinicians should have a high degree of suspicion for other congenital anomalies when a neonate is found to have ankyloglossia superior.

  18. Brain pathology in fatal serotonin syndrome: presentation of two cases.

    PubMed

    Slettedal, Jon K; Nilssen, Dag Olav V; Magelssen, Morten; Løberg, Else Marit; Maehlen, Jan

    2011-06-01

    Serotonin syndrome is a potentially life-threatening reaction that occurs in patients using drugs that elevate the serotonin level in the body. Excess serotonergic activity in the CNS and peripheral serotonin receptors results in neuromuscular hyperactivity, mental changes and autonomic symptoms. Hyperthermia is a characteristic feature of the syndrome. We describe neuropathological findings from two cases of lethal serotonin syndrome, both patients presenting with hyperthermia and neuromuscular symptoms. One of the patients had been taking amitriptylin and mirtazapin and the other had used amitriptylin and citalopram. They died, respectively, 10 days and 2½ months after the onset of serotonin syndrome symptoms. Post-mortem examination of the brains showed subtotal loss of cerebellar Purkinje cells in both cases. In the case with shorter survival time, areas with partial loss of cerebellar granule cells were observed, whereas in the case with longer survival time general and extensive loss of granule cells was found. Cells in other areas of the brain known to be sensitive to hypoxic injury were not affected. Selective loss of Purkinje cells has previously been described in neuroleptic malignant syndrome and heatstroke, conditions that are characterized by hyperthermia. This suggests that hyperthermia may be a causative factor of brain damage in serotonin syndrome. This is the first report describing neuropathological findings in serotonin syndrome.

  19. Refeeding syndrome or refeeding hypophosphatemia: a systematic review of cases.

    PubMed

    Skipper, Annalynn

    2012-02-01

    Nutrition support clinicians refer to the abnormalities in laboratory data and changes in clinical signs and symptoms that follow refeeding of starved or malnourished patients as refeeding syndrome. Theoretical descriptions of refeeding syndrome include a complex and extensive list of changes, such as hypophosphatemia, hypomagnesemia, hypokalemia, hyponatremia, hypocalcemia, hyperglycemia, and vitamin deficiency--all of which are accompanied by clinical signs and symptoms. In practice, clinicians see asymptomatic refeeding hypophosphatemia more often than a full-blown syndrome with multiple laboratory and clinical abnormalities. Confusion results because there is no widely accepted or uniformly applied set of defining characteristics for diagnosing refeeding syndrome. To gain insight into the clinical characteristics of refeeding syndrome described in the literature, a systematic review of reported cases and case series was conducted. Since 2000, 20 authors described 27 cases that contained sufficient data for review. Hypophosphatemia occurred in 26 patients (96%). While 19 patients (71%) experienced at least 1 other laboratory abnormality, only 14 (51%) exhibited a consistent pattern of abnormally low phosphorus and magnesium levels. Seven patients had hypocalcemia (26%), and hyponatremia was reported in 3 patients (11%). There were no reports of hyperglycemia. Mean data reported in case series containing data from 63 patients showed that hypophosphatemia was a consistent finding but that other abnormalities were not consistently identified. Findings suggest that refeeding hypophosphatemia is not accompanied by a consistent pattern of biochemical or clinical abnormalities among case reports or case series of patients reported to have refeeding syndrome.

  20. Lemierre's syndrome and genetic polymorphisms: a case report

    PubMed Central

    Constantin, Jean-Michel; Mira, Jean-Paul; Guerin, Renaud; Cayot-Constantin, Sophie; Lesens, Olivier; Gourdon, Florence; Romaszko, Jean-Pierre; Linval, Philippe; Laurichesse, Henri; Bazin, Jean-Etienne

    2006-01-01

    Background Lemierre's syndrome presents a classic clinical picture, the pathophysiology of which remains obscure. Attempts have been made to trace genetic predispositions that modify the host detection of pathogen or the resultant systemic reaction. Case presentation A 17-year old female, with no previous medical history, was admitted to the intensive care unit for septic shock, acute respiratory distress syndrome and Lemierre's syndrome. Her DNA was assayed for single nucleotide polymorphisms previously incriminated in the detection of the pathogen, the inflammatory response and the coagulation cascade. We observed functional variations in her Toll like 5 receptor (TLR 5) gene and two coagulation variations (Tissue Factor (TF) 603 and Plasminogen-Activator-Inhibitor-1 (PAI-1) 4G-4G homozygosity) associated with thrombotic events. Conclusion The innate immune response and the prothrombogenic mutations could explain, at least in part, the symptoms of Lemierre's syndrome. Genomic study of several patients with Lemierre's syndrome may reveal its pathophysiology. PMID:16846490

  1. Syndromic odontogenic keratocyst: A case report and review of literature.

    PubMed

    Arshad, Fazil

    2016-01-01

    Odontogenic keratocysts (OKCs) may occur in two different forms, either as solitary (nonsyndromic OKCs) or as multiple OKCs (syndromic OKCs). Multiple OKCs usually occur as one of the findings in Gorlin-Goltz syndrome with other features such as skin carcinomas and rib, eye, and neurologic abnormalities. We report a rare case of Gorlin-Goltz syndrome in a 20-year-old male patient who presented with a slow growing swelling on lower right and left back teeth region since 2 months. Apart from these, other findings were frontal bossing, depressed nasal bridge, ocular hypertelorism, prominent supra orbital ridge, and mild mandibular prognathism. Excision was done and microscopic study revealed OKC and the follow-up could not be carried out for the complete management. We also presented a review of its pathogenesis, criterion, and differences between syndromic and nonsyndromic OKCs and suggest to thoroughly examine any patient who presents with multiple OKCs to rule out syndromic variety. PMID:27011939

  2. A Case of Good's Syndrome Presenting with Pulmonary Tuberculosis.

    PubMed

    Chaudhuri, Arunabha Datta; Tapadar, Sumit Roy; Dhua, Aparup; Dhara, Palash Nandan; Nandi, Saumen; Choudhury, Sabyasachi

    2015-01-01

    Adult onset immunodeficiency associated with thymoma is a rare condition. The combination of hypogammaglobulinemia, reduced number of peripheral B and CD4+ T cells, along with thymoma constitutes Good's syndrome (GS). This immunodeficiency condition is often complicated with opportunistic infection with organisms, like bacteria (Haemophilus influenzae, Streptococcus pneumonia etc), viruses (Cytomegalovirus, Herpes simplex etc), fungi and protozoa. We present an unusual case of Good's syndrome with pulmonary tuberculosis (PTB). A 40-year-old man presented with sputum-positive PTB and was started on anti-tuberculosis treatment. Subsequently, he developed symptoms and findings consistent with thymoma and other components of Good's syndrome. Although patients of Good's syndrome are susceptible to various opportunistic infections, infection with Mycobacterium tuberculosis is uncommon. Evidence of recurrent infections or some opportunistic infection in a thymoma patient should trigger a suspicion of Good's syndrome. PMID:27164735

  3. [Skin reaction to carbamazepine or DRESS syndrome: a case presentation].

    PubMed

    Cabrera Fundora, Emigdio Jesús; Cabrera Osorio, Yuliet; Cabrera Osorio, Claudia

    2016-02-25

    Carbamazepine is a frequently used drug that can produce adverse reactions like vertigo, somnolence and severe skin reactions like Drug Rash with Eosinophilia and Systemic Symptoms Syndrome (DRESS Syndrome). This syndrome is characterized by a late-appearing, slow-progressing cutaneous eruption accompanied by atypical lymphocytes, eosinophilia, and systemic symptoms such as fever, lymphadenopathy, hepatic compromise, and renal dysfunction that can be severe enough to cause death. We present a case that aims to highlight the importance of an early diagnosis of DRESS syndrome to adjust therapy and improve survival. The patient is a female patient prescribed carbamazepine for trigeminal neuralgia who presented with skin lesions, which were initially attributed to a hypersensitivity reaction. The lesions worsened in spite of treatment and systemic symptoms ensued. A diagnosis of DRESS syndrome was proposed and steroid treatment was initiated with rapid improvement.

  4. Syndromic odontogenic keratocyst: A case report and review of literature

    PubMed Central

    Arshad, Fazil

    2016-01-01

    Odontogenic keratocysts (OKCs) may occur in two different forms, either as solitary (nonsyndromic OKCs) or as multiple OKCs (syndromic OKCs). Multiple OKCs usually occur as one of the findings in Gorlin–Goltz syndrome with other features such as skin carcinomas and rib, eye, and neurologic abnormalities. We report a rare case of Gorlin–Goltz syndrome in a 20-year-old male patient who presented with a slow growing swelling on lower right and left back teeth region since 2 months. Apart from these, other findings were frontal bossing, depressed nasal bridge, ocular hypertelorism, prominent supra orbital ridge, and mild mandibular prognathism. Excision was done and microscopic study revealed OKC and the follow-up could not be carried out for the complete management. We also presented a review of its pathogenesis, criterion, and differences between syndromic and nonsyndromic OKCs and suggest to thoroughly examine any patient who presents with multiple OKCs to rule out syndromic variety. PMID:27011939

  5. Robinow syndrome without mesomelic 'brachymelia': a report of five cases.

    PubMed Central

    Bain, M D; Winter, R M; Burn, J

    1986-01-01

    A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or dwarfism. Two further sporadic cases are described, one with rhizomelic brachymelia and dwarfism and the other with generalised shortening of the limbs. An attempt is also made to distinguish between the phenotype of autosomal dominant and recessive cases on the basis of the familial cases in this paper and other reported cases. Images PMID:3746837

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

    PubMed

    Noguchi, Masayuki; Kato, Satoshi

    2004-01-01

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

  7. Delirium superimposed on Charles Bonnet syndrome: a case study.

    PubMed

    Yeager, Jennifer J

    2013-01-01

    Older adults with visual impairment may experience visual hallucinations in the setting of normal cognition and absence of psychiatric illness. This phenomenon is referred to as Charles Bonnet syndrome. Information concerning Charles Bonnet syndrome predominantly comes from case studies. Reassuring the person experiencing the hallucinations they are not suffering from psychosis constitutes the mainstay of treatment. What follows is the case of a vision impaired, older adult male with known Charles Bonnet syndrome, who, following emergency surgery and associated delirium while in the intensive care unit, experiences an aggressive change in hallucinations. Nurses need to understand the pathology and characteristics of Charles Bonnet syndrome in order to distinguish it from other pathologies underlying hallucinations. This knowledge is necessary to provide safe, patient-centered care for older adults.

  8. Adolescent with Tourette Syndrome and Bipolar Disorder: A Case Report

    PubMed Central

    Kwon, Young-Joon

    2014-01-01

    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

  9. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report.

    PubMed

    Kariminejad, Ariana; Radmanesh, Farid; Rezayi, Ali-Reza; Tonekaboni, Seyed-Hasan; Gleeson, Joseph G

    2013-05-01

    This report describes a case of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in a 1-year-old boy, born to healthy nonconsanguineous parents. Megalencephaly and bilateral postaxial polydactyly of upper and lower limbs were noted at birth. He had profound developmental delay and moderate hypotonia. Magnetic resonance imaging (MRI) of the brain revealed hydrocephalus, polymicrogyria in both frontal lobes and perisylvian regions, and thin corpus callosum. Array-comparative genomic hybridization was normal. The patient's clinical and radiologic findings fit the classic description of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. The possible overlap between megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome and other similar conditions is discussed.

  10. Severe scoliosis associated with Costello syndrome: a case report.

    PubMed

    Motosuneya, T; Asazuma, T; Tsuji, T; Watanabe, H; Nakayama, Y; Nemoto, K

    2006-12-01

    Costello syndrome is characterised by dwarfism, unique cutaneous lesions, a distinct facial gestalt, and mental retardation. There have been no detailed reports of severe spinal deformities requiring surgical treatment as a complication of Costello syndrome. We report a case of a 10-year-old girl with progressive scoliosis associated with Costello syndrome. She underwent anterior release and posterior surgical correction and fusion from T5 to L2 using a third generation hook and rod system plus spinous process wiring. Congenital portal vein deficiency and coagulopathy were other major complications. At 15-month follow-up, the patient had good balance and no evidence of instrumentation failure. PMID:17200544

  11. Cell mediated autoimmune granulocytopenia in a case of Felty's syndrome.

    PubMed Central

    Slavin, S; Liang, M H

    1980-01-01

    A variety of mechanisms have been demonstrated or suggested to explain the neutropenia that accompanies Felty's syndrome. This case report presents with Felty's syndrome with recurrent infections with initially had a clinical response to splenectomy. Eleven years later profound neutropenia recurred. In-vitro evidence for cell mediated autosensitisation of peripheral blood lymphocytes to autologous bone marrow cells was found. The cellular abnormalities improved after high-dose corticosteroids but not lithium. However, there did not appear to be a reduction in the incidence of clinical infections. The finding suggests that granulocytopenia in some patients with Felty's syndrome may be an autoimmune phenomenon. PMID:7436567

  12. A case of refeeding syndrome in a marine recruit.

    PubMed

    Bunge, Paul D; Frank, Laura L

    2013-04-01

    Refeeding syndrome is an under-recognized complication of starvation. Presented is a 26-year-old Marine recruit who was found to have hypothermia, mental status changes, and rhabdomyolysis after purposeful weight loss with calorie restriction in conjunction with an arduous exercise program. With rest and food, the patient developed refeeding syndrome, with hypophosphatemia requiring prolonged intravenous replacement. His case is unique in illustrating both malnutrition and refeeding syndrome in someone who appeared to be healthy and was exercising strenuously up to the point of hospital admission.

  13. Sheehan's Syndrome A Case Report and Literature Review

    PubMed Central

    Errarhay, S; Kamaoui, I; Bouchikhi, C; Châara, H; Bouguern, H; Tizniti, S; Melhouf, A; Banani, A

    2009-01-01

    Post-partum pituitary necrosis (Sheehan's syndrome) is a rare complication of post-partum hemorrhage. The diagnosis can be erratic and often delayed. In this case report of Sheehan's syndrome in the post-partum period, the signs were characterized by agalactia, severe hypoglycemia, and low serum levels of thyroid hormones, cortico-adrenal hormones, and gonadotrophin (FSH, LH). The hypophyseal magnetic resonance imaging confirmed the diagnosis of hypopituitarism secondary to pituitary necrosis. PMID:21483515

  14. Sheehan's Syndrome A Case Report and Literature Review.

    PubMed

    Errarhay, S; Kamaoui, I; Bouchikhi, C; Châara, H; Bouguern, H; Tizniti, S; Melhouf, A; Banani, A

    2009-01-01

    Post-partum pituitary necrosis (Sheehan's syndrome) is a rare complication of post-partum hemorrhage. The diagnosis can be erratic and often delayed. In this case report of Sheehan's syndrome in the post-partum period, the signs were characterized by agalactia, severe hypoglycemia, and low serum levels of thyroid hormones, cortico-adrenal hormones, and gonadotrophin (FSH, LH). The hypophyseal magnetic resonance imaging confirmed the diagnosis of hypopituitarism secondary to pituitary necrosis. PMID:21483515

  15. Early onset marfan syndrome: Atypical clinical presentation of two cases

    PubMed Central

    Ozyurt, A; Baykan, A; Argun, M; Pamukcu, O; Halis, H; Korkut, S; Yuksel, Z; Gunes, T; Narin, N

    2015-01-01

    Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system. PMID:26929908

  16. Piriformis muscle syndrome: a recurrent case after surgical release

    PubMed Central

    Haghnegahdar, Ali; Sedighi, Mahsa; Motalebi, Hassan

    2015-01-01

    We report a recurrent Piriformisc muscle syndrome after surgical release. After the primary neurolysis, a second operation was performed to release adhesions. This case shows a different type of sciatic nerve entrapment by an abnormal thin muscle slip. Results of the revision surgery guide us to the point that revision surgery for Piriformis muscle syndrome should be meticulously selected, and after considering medical and interventional therapies. PMID:26286539

  17. Sturge–Weber syndrome – A case report

    PubMed Central

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

    2015-01-01

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

  18. Down syndrome associated with severe combined immunodeficiency: a case report.

    PubMed

    Yildirim, M S; Artac, H; Reisli, I

    2009-01-01

    An 8-month-old boy was admitted to the hospital because of recurrent bronchopneumonia and gastrointestinal tract infections. On physical examination, he had hypotonia, mental retardation, microcephaly with flat facies, low nasal bridge, small nose, small ears. Laboratory evaluation revealed Down syndrome, lymphopenia, hypogammaglobulinemia, reduced proportions of the peripheral blood lymphocytes with an inverted CD4/CD8 ratio and markedly reduced mitogen response of the lymphocytes. We report here unique case of Down syndrome associated with severe combined immunodeficiency. PMID:19852434

  19. Piriformis muscle syndrome: a recurrent case after surgical release.

    PubMed

    Haghnegahdar, Ali; Sedighi, Mahsa; Motalebi, Hassan

    2015-08-18

    We report a recurrent Piriformisc muscle syndrome after surgical release. After the primary neurolysis, a second operation was performed to release adhesions. This case shows a different type of sciatic nerve entrapment by an abnormal thin muscle slip. Results of the revision surgery guide us to the point that revision surgery for Piriformis muscle syndrome should be meticulously selected, and after considering medical and interventional therapies.

  20. Gorlin-Goltz Syndrome: Case report and literature review

    PubMed Central

    Ramesh, Maya; Krishnan, Ramesh; Chalakkal, Paul; Paul, George

    2015-01-01

    Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. This article includes a case report and an extensive review of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, keratocystic odontogenic tumor and treatment modalities. PMID:26604511

  1. Sweet syndrome associated with myelodysplastic syndrome: report of a case. Review of the literature.

    PubMed

    Reina, Delia; Cerdà, Dacia; Roig, Daniel; Fíguls, Ramon; Villegas, M Luz; Corominas, Hèctor

    2013-01-01

    Sweet's syndrome or acute neutrophilic febrile dermatosis is a systemic disease of unknown etiology characterized by the appearance of skin lesions produced by a neutrophilic dermal infiltrate, fever and peripheral leukocytosis. It may be associated with hematologic diseases, including leukemia, with immune diseases as rheumatoid arthritis, or can occur in isolation. The myelodysplasias are hematological disorders characterized by one or more cytopenias secondary to bone marrow dysfunction. We present the case of a patient with Sweet's syndrome associated with myelodysplastic syndrome and treated with glucocorticoids who did not present a good clinical outcome. We discuss the different treatment of these diseases because in most cases glucocorticoids, which are the treatment of choice in Sweet's syndrome, may be insufficient.

  2. Rett Syndrome: A Longitudinal Developmental Case Report.

    ERIC Educational Resources Information Center

    Garber, Norman; Veydt, Nicole

    1990-01-01

    The clinical course of development of a 14-year-old girl with Rett Syndrome is outlined. Results indicated a general stagnation in gross and fine motor skills, self-help skills, communication, and cognition, beginning at approximately 15 months. No skills progressed beyond the 2-year level despite several years of intensive intervention.…

  3. Sjögren syndrome: A case report.

    PubMed

    Dellafiore, C; Villa, A; Zibera, F

    2012-06-01

    Sjögren syndrome is a systemic autoimmune disorder that affects the exocrine glands. The authors present the case of a 50-year-old woman diagnosed with this syndrome on the basis of clinical and serological findings. Sonography of the major salivary glands revealed normal-sized glands with echo structures that were diffusely inhomogeneous due to the presence of multiple hypoechoic areas. Parenchymal vascularization was significantly increased on color Doppler imaging. These findings confirmed the diagnosis and revealed active disease manifested by glandular hypervascularization. This represents a typical case of Sjögren syndrome and illustrates the diagnostic value in these cases of salivary gland sonography, which is effective, noninvasive, and repeatable and provides accurate information on the vascularization status of the glands.

  4. Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.

    PubMed

    Temtamy, S A; Ismail, S I; Meguid, N A

    2000-01-01

    Lenz microphthalmia syndrome is an extremely rare inherited disorder, characterized by unilateral or bilateral microphthalmia. In rare cases affected patients exhibit complete absence of eye or blepharoptosis resulting in visual impairment. Additional physical abnormalities are often associated with this disorder, orofacial, digital, skeletal and urogenital abnormalities. Here we present three cases of Lenz microphthalmia with additional manifestations: two brothers of first cousin mating, the elder one has bilateral congenital cataract which is a rare ophthalmological finding in this syndrome and a third case who presented to us because of ambiguous genitalia. She was 12 years old, and reared as a female. Chromosomal analysis showed 46,XY karyotype, and hormonal studies indicated 5-alpha reductase deficiency. This is the first report of the association of 5-alpha reductase deficiency with Lenz microphthalmia syndrome.

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

    PubMed Central

    Saransh, Jain; Vikas, Dwarkanath Mysore

    2014-01-01

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

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

    PubMed

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

    2015-05-01

    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.

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

    PubMed

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

    2015-05-01

    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

  8. Two extraordinarily severe cases of Treacher Collins syndrome.

    PubMed

    Bauer, Mislen; Saldarriaga, Wilmar; Wolfe, S Anthony; Beckwith, J Bruce; Frias, Jaime L; Cohen, M Michael

    2013-03-01

    Here, we report two extraordinarily severe cases of Teacher Collins syndrome. Initially, amniotic bands and plical fold disruption were considered, but downslanting eyes made us consider severe Treacher Collins syndrome. A TCOF1 mutation in exon 24 was identified in Patient 1 (c.4355_4356ins14, resulting in p.1456Thrfs*18). Patient 2, who expired on day 4, is so similar to Patient 1 that severe Treacher Collins syndrome may be inferred in this instance. Neither the TCOF1 mutation nor the well-known variability in the expression in affected families with Treacher Collins syndrome (∼40% of reported cases) can explain the severity of these cases; otherwise, we would be aware of such cases within families from time to time. We are unaware of any recent sporadic cases (∼60% of reported cases) exactly like ours either with a single exception in the case reported by Writzl et al. [2008] with a TCOF1 mutation. The case described by Otto in 1841 is spectacular. We propose several hypotheses to be considered in explaining this developmental amplification, including some promoter effect on the gene, some position effect on the gene, a polymorphism elsewhere in the gene, a point mutation elsewhere in the gene, a polymorphism in another gene, or a point mutation in another gene, such as POLR1C (which maps to 6p21.1) or POLR1D (which maps to13q12.2). We also review the etiology and pathogenesis of Treacher Collins syndrome, and discuss several other severe cases from the past.

  9. Two Cases of Heerfordt's Syndrome: A Rare Manifestation of Sarcoidosis

    PubMed Central

    Furuta, Yasushi; Fukuda, Satoshi

    2016-01-01

    Heerfordt's syndrome is a rare manifestation of sarcoidosis characterized by the presence of facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever. Two cases of Heerfordt's syndrome and a literature review are presented. Case  1. A 53-year-old man presented with swelling of his right eyelid, right facial nerve palsy, and swelling of his right parotid gland. A biopsy specimen from the swollen eyelid indicated sarcoidosis and he was diagnosed with incomplete Heerfordt's syndrome based on the absence of uveitis. His symptoms were improved by corticosteroid therapy. Case  2. A 55-year-old woman presented with left facial nerve palsy, bilateral hearing loss, and swelling of her bilateral parotid glands. She had been previously diagnosed with uveitis and bilateral hilar lymphadenopathy. Although no histological confirmation was performed, she was diagnosed with complete Heerfordt's syndrome on the basis of her clinical symptoms. Swelling of the bilateral parotid glands and left facial nerve palsy were improved immediately by corticosteroid therapy. Sarcoidosis is a relatively uncommon disease for the otolaryngologist. However, the otolaryngologist may encounter Heerfordt's syndrome as this syndrome presents with facial nerve palsy and swelling of the parotid gland. Therefore, we otolaryngologists should diagnose and treat Heerfordt's syndrome appropriately in cooperation with pneumologists and ophthalmologists. PMID:26885424

  10. Landau-Kleffner syndrome: a case report.

    PubMed

    Raybarman, C

    2002-06-01

    A healthy 5 year old boy developed aphasia, attention disorder and hyperkinesia preceded by transient formed visual hallucinations and emotional outburst, immediately after a stressful event of forced separation from his father. EEG showed generalized epileptiform activity. He was diagnosed as Landau-Kleffner syndrome (LKS). CT and MRI of the brain were normal. SPECT showed left mesial temporal hypoperfusion. He improved on antiepileptics and ACTH. PMID:12134193

  11. Wallenberg's Syndrome: An Unusual Case of Dysphagia

    PubMed Central

    Castillo, Aurora Loaeza-del; Barahona-Garrido, Josué; Criales, Sergio; Chang-Menéndez, Sergio; Torre, Aldo

    2007-01-01

    A 56-year-old man presented with sudden-onset oropharyngeal dysphagia and vomiting of central etiology. Neurological evaluation showed uvula deviation to the left, paresis of the mid-right portion of the soft palate, lateralization of gaze to the right side, and dysphonia. Magnetic resonance imaging (MRI) showed an infarction in the left lateral medullary region, therefore the diagnosis of Wallenberg's syndrome was established. The neurological issues along with the dysphagia gradually improved and the patient was discharged. PMID:21487559

  12. Characteristics of Susac syndrome: a review of all reported cases.

    PubMed

    Dörr, Jan; Krautwald, Sarah; Wildemann, Brigitte; Jarius, Sven; Ringelstein, Marius; Duning, Thomas; Aktas, Orhan; Ringelstein, Erich Bernd; Paul, Friedemann; Kleffner, Ilka

    2013-06-01

    In Susac syndrome, occlusions of microvessels--presumed to be mediated by an autoimmune response to an as yet unknown antigen--lead to a characteristic clinical triad of CNS dysfunction, branch retinal artery occlusions, and sensorineural hearing impairment. Susac syndrome is considered a rare but important differential diagnosis in numerous neurological, psychiatric, ophthalmological, and ear, nose and throat disorders. Improved understanding of this disorder is crucial, therefore, to ensure that patients receive appropriate treatment and care. Current knowledge on Susac syndrome is largely based on reports of single patients, small case series, and nonsystematic reviews. The aim of this Review is to extend these previous, primarily anecdotal findings by compiling data from all 304 cases of Susac syndrome that have been published worldwide, which were identified following a literature search with predefined search, inclusion and exclusion criteria. From this data, we present an overview of demographic, clinical and diagnostic data on Susac syndrome, providing a reliable basis for our current understanding of this rare disease. Where possible, we make recommendations for clinical diagnosis, differential diagnosis, and management of patients with suspected Susac syndrome. PMID:23628737

  13. Cyclic Vomiting Syndrome: An Update Illustrated by a Case Report

    PubMed Central

    Hermus, Ingeborg P. M.; Willems, Stacey J. B.; Bogman, Aimée C. C. F.; Janssen, Paddy K. C.; Brabers, Leonie; Schieveld, Jan N. M.

    2016-01-01

    Objective: This article presents an update on cyclic vomiting syndrome, a potentially exhausting disorder that can occur in children, adolescents, and adults and and has a huge impact on the quality of life. A structured literature search was conducted to explore the current knowledge about antipsychotics in the treatment of cyclic vomiting syndrome. A case report is presented of a 15-year-old boy with refractory cyclic vomiting syndrome (ICD-10 criteria), who finally responded to a unique combination of risperidone and amitriptyline. Data Sources: A literature search of English articles was performed in November 2015 using PubMed and the Cochrane Library with cyclic vomiting syndrome, cyclic vomiting, risperidone, and antipsychotics as key words. All types of publications were included. The publication period covered a span from 1976 to 2014. Study Selection and Data Extraction: In total, 13 articles were found. After screening the title and abstract, only 2 were selected. Results: In the current literature, only the use of chlorpromazine in the treatment of cyclic vomiting syndrome is mentioned. The possible underlying working mechanism of chlorpromazine is not clarified. Conclusions: Antipsychotics are hardly mentioned in the literature with regard to their antiemetic properties. Antipsychotics like risperidone, and its unique combination with amitriptyline, might be an important alternative to achieve a satisfactory treatment result in refractory cases of cyclic vomiting syndrome. PMID:27733950

  14. Gestational Diabetes Insipidus Associated with HELLP Syndrome: A Case Report.

    PubMed

    Gambito, Renela; Chan, Michael; Sheta, Mohamed; Ramirez-Arao, Precious; Gurm, Harmeet; Tunkel, Allan; Nivera, Noel

    2012-01-01

    Gestational diabetes insipidus is a rare, but well recognized, complication of pregnancy. It is related to excess vasopressinase enzyme activity which is metabolized in the liver. A high index of suspicion of gestational diabetes insipidus is required in a correct clinical setting especially in the presence of other risk factors such as preeclampsia, HELLP syndrome, and twin pregnancies. We are presenting a case of gestational diabetes insipidus in a patient with HELLP syndrome. The newborn in this case also had hypernatremia thereby raising possibilities of vasopressinase crossing the placenta.

  15. Langer-Giedion Syndrome: a Rare Case Report

    PubMed Central

    Katge, Farhin Ali; Rusawat, Bhavesh Dahyabhai; Shivasharan, Pooja Ravindra; Patil, Devendra Pandurang

    2016-01-01

    Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. It is characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features. The characteristic appearance of individuals includes sparse scalp hair, rounded nose, prominent philtral area and thin upper lip. Some cases with this condition have loose skin in childhood which typically resolves with age. Oral and dental manifestations include micrognathia, retrognathia, hypodontia, and malocclusion based on cephalometric analysis. This report presents a case of Langer-Giedion syndrome in a 10-year-old child.

  16. Langer-Giedion Syndrome: a Rare Case Report.

    PubMed

    Katge, Farhin Ali; Rusawat, Bhavesh Dahyabhai; Shivasharan, Pooja Ravindra; Patil, Devendra Pandurang

    2016-09-01

    Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. It is characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features. The characteristic appearance of individuals includes sparse scalp hair, rounded nose, prominent philtral area and thin upper lip. Some cases with this condition have loose skin in childhood which typically resolves with age. Oral and dental manifestations include micrognathia, retrognathia, hypodontia, and malocclusion based on cephalometric analysis. This report presents a case of Langer-Giedion syndrome in a 10-year-old child. PMID:27602401

  17. Langer-Giedion Syndrome: a Rare Case Report

    PubMed Central

    Katge, Farhin Ali; Rusawat, Bhavesh Dahyabhai; Shivasharan, Pooja Ravindra; Patil, Devendra Pandurang

    2016-01-01

    Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. It is characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features. The characteristic appearance of individuals includes sparse scalp hair, rounded nose, prominent philtral area and thin upper lip. Some cases with this condition have loose skin in childhood which typically resolves with age. Oral and dental manifestations include micrognathia, retrognathia, hypodontia, and malocclusion based on cephalometric analysis. This report presents a case of Langer-Giedion syndrome in a 10-year-old child. PMID:27602401

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

    PubMed Central

    2011-01-01

    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

  19. Multidisciplinary surgical management of Cowden syndrome: Report of a case

    PubMed Central

    Staderini, Edoardo; Gallenzi, Patrizia

    2016-01-01

    Cowden’s Syndrome (CS) is a rare congenital autosomal dominant disorder that affects around 1/200000 patients with an incomplete penetrance and variable expressivity, characterized by alterations in a tumor suppressor gene. A 14-year-old Caucasian male patient came to the attention of the authors complaining of palm nodules, gingival bleeding and painful pedunculated lesions on the lips and on the labial side of anterior sextants. After genetic investigation the final diagnosis of a Cowden Syndrome was made. The lesions were surgically removed under general anesthesia and no clinical signs of recurrence were found three months after surgical excision. Considering the severe symptoms of the syndrome and the strong tendency to malignant development of the associated lesions all clinicians should focus their efforts to the early diagnosis and, when possible, multidisciplinary treatment. Key words:Early diagnosis, multiple hamartoma syndrome, oral papillomatosis, cancer predisposition, case report. PMID:27703620

  20. Dental management of patient with Williams Syndrome - A case report

    PubMed Central

    Wong, Daniel; Ramachandra, Srinivas Sulugodu; Singh, Ashish Kumar

    2015-01-01

    Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26–28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Authors report a 17-year-old female patient with underlying Williams syndrome. Oral features and problems seen in the patient are listed. Malocclusion and screwdriver shaped teeth were noticed. Generalized widening of the periodontal ligament space with vital teeth was seen. This finding has not been reported in cases of Williams syndrome earlier. Precautions taken during dental treatment in patients with Williams syndrome are also discussed. PMID:26321847

  1. [A rare case of thermoregulation disorder: Shapiro syndrome].

    PubMed

    Szabó, Júlia; Zádori, Dénes; Varga, Edina Tímea; Vécsei, László

    2016-02-14

    Anomalies of the corpus callosum are the most frequent malformations of the central nervous system. The triad of spontaneous periodic hypothermia and hyperhydrosis with the agenesis of corpus callosum is described as Shapiro syndrome. Shapiro syndrome is a very rare condition and it can occur in every age group. The presence of agenesis of corpus callosum is not a strict criteria of the syndrome; the most important presenting symptom is paroxysmal hypothermia. Although the definite cause of recurrent hypothermia is unknown, dysfunction of the hypothalamus is suspected. From therapeutic aspects, only supportive therapy is available. In this report the authors present the first Shapiro syndrome case diagnosed in Hungary. The main symptoms of the 21-year-old male patient were recurrent hyperhydrosis with hypothermia resulting in severe general malaise. The skull magnetic resonance imaging demonstrated agenesis of corpus callosum. The patient was treated with clonidine resulting in significant improvement of symptoms. PMID:26853729

  2. [Charles Bonnet syndrome: case reports and short review].

    PubMed

    Lagoudis, A; Bozikas, V

    2011-01-01

    Charles Bonnet first described visual hallucinations in a ground of visual deprivation in the 18th century. In this paper, two case reports with the syndrome are presented (female 83 years old, male 68 years old) along with a short literature review. The distinction of the syndrome from other psychiatric disorders (delirium, dementia), where visual hallucinations are also present, demands the presence of the diagnostical triad: visual hallucinations, visual impairment, intact cognitive status. The hallucinations are rich in colors and tension, people usually have the "leading roles" and patients mostly are curious, enjoy the hallucinations and are not afraid of them. More often hallucinations appear after acute visual impairment and in older patients. There are several theories concerning the mechanisms that lead to the syndrome. The Charles Bonnet syndrome appears to be self-restricted and there are no clear guidelines regarding its treatment.

  3. Case study: Gluteal compartment syndrome as a cause of lumbosacral radiculoplexopathy and complex regional pain syndrome.

    PubMed

    Lederman, Andrew; Turk, David; Howard, Antonio; Reddy, Srinivas; Stern, Michelle

    2016-01-01

    We present the case of a 24 yr old male who was diagnosed with gluteal compartment syndrome and was subsequently found to have developed lumbosacral radiculoplexopathy and complex regional pain syndrome. The patient's gluteal compartment syndrome was diagnosed within 24 h of presentation to the emergency room, and he underwent emergent compartment release. While recovering postoperatively, persistent weakness was noted in the right lower limb. Results of electrodiagnostic testing were consistent with a lumbosacral radiculoplexopathy. After admission to inpatient rehabilitation, the patient complained of pain, burning sensation, and numbness in the distal right lower limb. Based on clinical findings, he was diagnosed with complex regional pain syndrome type II, or causalgia, and was referred for a lumbar sympathetic block under fluoroscopic guidance. Sympathetic block resulted in relief of the patient's symptoms. He was discharged home with good pain control on oral medications.

  4. Case study: Gluteal compartment syndrome as a cause of lumbosacral radiculoplexopathy and complex regional pain syndrome.

    PubMed

    Lederman, Andrew; Turk, David; Howard, Antonio; Reddy, Srinivas; Stern, Michelle

    2016-01-01

    We present the case of a 24 yr old male who was diagnosed with gluteal compartment syndrome and was subsequently found to have developed lumbosacral radiculoplexopathy and complex regional pain syndrome. The patient's gluteal compartment syndrome was diagnosed within 24 h of presentation to the emergency room, and he underwent emergent compartment release. While recovering postoperatively, persistent weakness was noted in the right lower limb. Results of electrodiagnostic testing were consistent with a lumbosacral radiculoplexopathy. After admission to inpatient rehabilitation, the patient complained of pain, burning sensation, and numbness in the distal right lower limb. Based on clinical findings, he was diagnosed with complex regional pain syndrome type II, or causalgia, and was referred for a lumbar sympathetic block under fluoroscopic guidance. Sympathetic block resulted in relief of the patient's symptoms. He was discharged home with good pain control on oral medications. PMID:27533628

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

    PubMed Central

    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

    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

  6. [A case of Sotos syndrome associated with peripheral nerve involvements].

    PubMed

    Funakawa, I; Katoh, H; Hara, K; Yasuda, T; Terao, A

    1992-03-01

    A case of the Sotos syndrome associated with peripheral nerve involvements was reported. A 52-year-old male was admitted to Kawasaki Medical School Hospital because of gait disturbance, muscle atrophy, and weakness in both hands. This case was diagnosed as the Sotos syndrome based on the following symptoms and findings, acromegaloid features, hypertrophic changes in the hands and feet, a history of epileptic episodes, a low IQ, a normal growth hormone value, and no tumor lesion in the pituitary gland. Radiological examination disclosed a cauliflower-like appearance of the finger tips and thickness of the heel pads. Brain CT and MRI revealed diffuse mild brain atrophy. An electroencephalogram showed diffuse theta waves with sharp waves in the right parietal region. A needle electromyogram revealed neurogenic change in both upper and lower limbs. A nerve conduction study disclosed the carpal tunnel syndrome and cubital tunnel syndrome. These findings suggest that, as in the case of acromegaly, entrapment neuropathy and peripheral neuropathy can also be induced in the Sotos syndrome.

  7. [A case of Sotos syndrome associated with peripheral nerve involvements].

    PubMed

    Funakawa, I; Katoh, H; Hara, K; Yasuda, T; Terao, A

    1992-03-01

    A case of the Sotos syndrome associated with peripheral nerve involvements was reported. A 52-year-old male was admitted to Kawasaki Medical School Hospital because of gait disturbance, muscle atrophy, and weakness in both hands. This case was diagnosed as the Sotos syndrome based on the following symptoms and findings, acromegaloid features, hypertrophic changes in the hands and feet, a history of epileptic episodes, a low IQ, a normal growth hormone value, and no tumor lesion in the pituitary gland. Radiological examination disclosed a cauliflower-like appearance of the finger tips and thickness of the heel pads. Brain CT and MRI revealed diffuse mild brain atrophy. An electroencephalogram showed diffuse theta waves with sharp waves in the right parietal region. A needle electromyogram revealed neurogenic change in both upper and lower limbs. A nerve conduction study disclosed the carpal tunnel syndrome and cubital tunnel syndrome. These findings suggest that, as in the case of acromegaly, entrapment neuropathy and peripheral neuropathy can also be induced in the Sotos syndrome. PMID:1321017

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

    PubMed Central

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

    1980-01-01

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

  9. [Moebius syndrome : one case (author's transl)].

    PubMed

    Legrand, J; Gillot, F

    1980-01-01

    The Moebius syndrome is a congenital anomaly characterized by paralysis of the sixth and seventh nerves. In some instances, there may be weakness of the adductors. The other muscles are normal. Visual acuity is not affected. Other congenital defects may be associated: polydactyly, defects of the ear and of the tongue. Etiology is probably an embryonal egression, cause of aplasia of the facial and abducens nucleï. The impossibility to move the eyes laterally in either direction, points to supranucleus involvement by defective development of the medial longitudinal fasciculus. Some people suggest that a myogen disturbance should be the principal and unique etiology. No evolution. No treatment. PMID:7451821

  10. Gingival Enlargement in a Case of Variant Jones Syndrome: a Case Report

    PubMed Central

    DA, Roopa; Singh, Shinkhala; Gupta, Ira; Gopal, Saumiya

    2016-01-01

    Gingival enlargement can be caused by a variety of etiological factors like inflammation, drugs, and systemic diseases or can be presented as a part of a syndrome. One such syndrome is Jones Syndrome, which is associated with gingival enlargement and progressive hearing loss. We present here a case of fifteen-year-old boy with gingival enlargement, hearing loss, and generalized alveolar bone loss and diagnosed as Jones syndrome. The diagnosis was made based on history, clinical, radiographic, and histopathological findings. Gingival enlargement was surgically managed using gingivectomy and no recurrence was observed. The patient showed remarkable esthetical and functional improvement. PMID:26966711

  11. The campomelic syndrome--prenatal ultrasound investigations. A case report.

    PubMed

    Slater, C P; Ross, J; Nelson, M M; Coetzee, E J

    1985-05-25

    The campomelic syndrome is a skeletal dysplasia of unknown aetiology which is apparent at birth and is characterized by bilateral bowing of the tibiae, clubfoot and other multiple congenital abnormalities. Up to 50% of cases are either stillborn or die within 24 hours of birth in respiratory distress. With a few exceptions, the remainder die within 10 months. The patient in this report demonstrated characteristic features of the syndrome which were detected antenatally by ultrasound and confirmed after delivery. The apparently female infant died 2 hours postpartum in respiratory distress, but was subsequently found to have a 46,XY chromosome constitution. Autopsy and postmortem radiographs revealed multiple congenital abnormalities consistent with the campomelic syndrome. The findings in this case are discussed and the possibility of antenatal diagnosis is raised.

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2014-10-01

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

  14. Sinding-Larsen-Johansson syndrome: A case report.

    PubMed

    Valentino, M; Quiligotti, C; Ruggirello, M

    2012-06-01

    The Sinding-Larsen-Johansson syndrome has a pathogenesis similar to that of the Osgood-Schlatter disorder and is the result of excessive force exerted by the patellar tendon on the lower pole of the patella. Clinically it is characterized by pain, which increases when the patellar is loaded during flexion, subpatellar swelling and functional limitation. The authors present a case of a 13-year-old boy who was a competitive youth team football player. He presented with anterior, spontaneous knee pain and swelling at the inferior pole of the patella. Ultrasonography (US) confirmed clinical diagnosis showing lesions typical of the Sinding-Larsen-Johansson syndrome. The patient was told to refrain from sports activity; after five months recovery was complete and US follow-up revealed no anomaly. The authors consider the case worthy of reporting because it is paradigmatic and to emphasize the role of US in the evaluation of the Sinding-Larsen-Johansson syndrome.

  15. Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome

    PubMed Central

    Iqbal, Zahra; Mead, Paul; Sayer, John A.

    2016-01-01

    Gitelman syndrome is an inherited tubulopathy leading to a hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. Most cases are due to mutations in SLC12A3, encoding the apical thiazide sensitive co-transporter in the distal convoluted tubule. Musculoskeletal effects of Gitelman syndrome are common, including muscle weakness, tetany and cramps. Chronic hypomagnesaemia can lead to chondrocalcinosis, which often affects knees but can affect other joints. Here we present a case of Gitelman syndrome complicated by cervical chondrocalcinosis leading to neck pain and numbness of the fingers. Treatments directed at correcting both hypokalaemia and hypomagnesaemia were initiated and allowed conservative non-surgical management of the neck pain. Recognition of chondrocalcinosis is important and treatments must be individualised to correct the underlying hypomagnesaemia. PMID:27303630

  16. Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome.

    PubMed

    Iqbal, Zahra; Mead, Paul; Sayer, John A

    2016-01-01

    Gitelman syndrome is an inherited tubulopathy leading to a hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. Most cases are due to mutations in SLC12A3, encoding the apical thiazide sensitive co-transporter in the distal convoluted tubule. Musculoskeletal effects of Gitelman syndrome are common, including muscle weakness, tetany and cramps. Chronic hypomagnesaemia can lead to chondrocalcinosis, which often affects knees but can affect other joints. Here we present a case of Gitelman syndrome complicated by cervical chondrocalcinosis leading to neck pain and numbness of the fingers. Treatments directed at correcting both hypokalaemia and hypomagnesaemia were initiated and allowed conservative non-surgical management of the neck pain. Recognition of chondrocalcinosis is important and treatments must be individualised to correct the underlying hypomagnesaemia. PMID:27303630

  17. Diagnosis and treatment of SAPHO syndrome: A case report

    PubMed Central

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

    2014-01-01

    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

  18. [Hemophagocytic syndrome. Report of four cases].

    PubMed

    Young, Pablo; Peroni, Jose; Finn, Bárbara C; Venditti, Julio E; Preiti, Verónica; Bullorsky, Eduardo; Bruetman, Julio E

    2011-02-01

    Hemophagocytic syndrome (HS) is a severe hyper inflammatory condition whose cardinal symptoms are prolonged fever, cytopenia, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages. The clinical course resembles sepsis, sharing similar physiopathological features. We report four patients with the syndrome. A 61-year-old female presenting with fever and pleuritic pain. During the course of the disease, a pancytopenia was detected and a bone marrow aspiration was suggestive of HS. The patient was treated with cyclosporine and steroids with a good response. A 61-year-old male with fever and pancytopenia and a bone marrow aspirate suggestive of HS. The patient did not respond to treatment and died. A 23-year-old male with fever, pancytopenia and positive Hanta virus antibodies. A bone marrow aspirate was suggestive of HS. The patient recovered without any treatment. A 72-year-old male admitted with the diagnosis of pneumonia, that developed a progressive pancytopenia and bone marrow aspirate was suggestive of HS. A bronchoalveolar lavage showed the presence of Acinetobacter baumanii. Despite treatment with methylprednisolone and gammaglobulin, the patient died. Awareness of the clinical symptoms and of the diagnostic criteria of HS is important to start life-saving therapy in time.

  19. [Insulin autoimmune syndrome: Report of two cases].

    PubMed

    Lanas, Alejandra; Paredes, Ana; Espinosa, Consuelo; Caamaño, Egardo; Pérez-Bravo, Francisco; Pinto, Rodrigo; Iñiguez, Germán; Martínez, Darío; Soto, Néstor

    2015-07-01

    Insulin autoimmune syndrome (IAS) is characterized by spontaneous hypoglycemia with extremely high insulin levels and the presence of circulating autoantibodies against insulin, in patients who have never been exposed to exogenous insulin. We report two patients with the syndrome. A 36 years old male presenting with hypoglycemia in the emergency room had an oral glucose tolerance test showed basal and 120 min glucose levels of 88 and 185 mg/dl. The basal and 120 min insulin levels were 2,759 and 5,942 μUI/ml. The presence of an insulin secreting tumor was discarded. Anti-insulin antibodies were positive. He was successfully treated with a diet restricted in carbohydrates and frequent meals in small quantities. A 65 years old female presenting with hypoglycemia in the emergency room had the fasting insulin levels of 1,910 µUI/ml. No insulin secreting tumor was detected by images and anti-insulin antibodies were positive. The polyethylene glycol precipitation test showed a basal and after exposition insulin level 1,483 and 114 µUI/ml, respectively. She responded partially to diet and acarbose and required the use of prednisone with a good clinical response. PMID:26361032

  20. Aortic valve replacement in a case of Ehlers Danlos syndrome.

    PubMed Central

    Edmondson, P; Nellen, M; Ross, D N

    1979-01-01

    A case of Ehlers Danlos syndrome is described in a 54-year-old Caucasian male. He had calcific aortic valve disease and dilatation of the ascending aorta. An aortic valve replacement was performed using a Starr prosthesis. Images PMID:383121

  1. A case of Kartagener syndrome with rhinolalia clausa

    PubMed Central

    Raoufi, Mohammed; Sator, Hicham; Lahma, Jawad; El Ayoubi, Ali; Nitassi, Sophia; Oujilal, Abdelilah; Benbouzid, Mohammed Anas; Essakalli, Leila; Elouazzani, Hanane; Rhorfi, Ismail Abderrahmane; Abid, Ahmed

    2016-01-01

    Kartagener syndrome is an autosomal recessive genetic ciliary disorder comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. It's the one of primary ciliary dyskinesia disorders with manifestations present from childhood. Most patients of PCD have situs inversus. We present a case of 18 year-old women with recurrent lower and upper respiratory tracts infections, and rhinolalia clausa. PMID:27375831

  2. A case of Kartagener syndrome with rhinolalia clausa.

    PubMed

    Raoufi, Mohammed; Sator, Hicham; Lahma, Jawad; El Ayoubi, Ali; Nitassi, Sophia; Oujilal, Abdelilah; Benbouzid, Mohammed Anas; Essakalli, Leila; Elouazzani, Hanane; Rhorfi, Ismail Abderrahmane; Abid, Ahmed

    2016-01-01

    Kartagener syndrome is an autosomal recessive genetic ciliary disorder comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. It's the one of primary ciliary dyskinesia disorders with manifestations present from childhood. Most patients of PCD have situs inversus. We present a case of 18 year-old women with recurrent lower and upper respiratory tracts infections, and rhinolalia clausa. PMID:27375831

  3. Chronic exertional compartment syndrome in adductor pollicis muscle: case report.

    PubMed

    Lee, Chang-Hun; Lee, Kwang-Hyun; Lee, Seung-Hun; Kim, Yee-Suk; Chung, Ung-Seo

    2012-11-01

    We report a case of chronic exertional compartment syndrome in the adductor pollicis that was confirmed by measuring elevated compartment pressure. Specific finding of magnetic resonance imaging, increased T2 signal intensity in the involved compartment, was also useful for the diagnosis. Pain was relieved by fasciotomy through a volar approach. PMID:23040640

  4. Consonants in Cri du Chat Syndrome: A Case Study

    ERIC Educational Resources Information Center

    Kristoffersen, Kristian Emil

    2008-01-01

    This article reports on a longitudinal case study of consonant productions in one Norwegian girl with Cri du chat syndrome from age 4;6 to age 9;4. It was shown that she had many articulation errors throughout the period of observation. Furthermore, these errors were shown to fall into three main categories: (1) errors of differentiation and…

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

    PubMed

    Dutra, Bruno Landim; Campos, Lenilton da Costa; Marques, Hélder de Castro; Vilela, Vagner Moysés; Carvalho, Rodolfo Elias Diniz da Silva; Duque, André Geraldo da Silva

    2015-01-01

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

  6. A case of Gilles de la Tourette's syndrome

    PubMed Central

    Prakash, Jyoti; Singh, Pragnya; Bhat, P. S.; Srivastava, K.; Gupta, Vikash

    2015-01-01

    Gilles de la Tourette's syndrome is an uncommon illness associated with repetitive un-voluntary abnormal movements and utterance. It is often associated with other psychiatric morbidities. Management requires awareness of this uncommon illness, keen observation, relevant evaluation, and combination of pharmacology and psychotherapy for an optimal outcome. This case is brought out here for florid presentation and nuances of management. PMID:27212827

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

    PubMed

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

    2009-09-01

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

  8. Naegeli–Franceschetti–Jadassohn syndrome: A rare case

    PubMed Central

    Shah, Bela J.; Jagati, Ashish K.; Gupta, Neha P.; Dhamale, Suyog S.

    2015-01-01

    Naegeli–Franceschetti–Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene. We report here a case of NFJS in a 27-year-old male who presented with reticulate hyperpigmentation over skin, dental changes, absence of dermatoglyphics, hypohidrosis, and hair changes. PMID:26753140

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

    ERIC Educational Resources Information Center

    Cheatham, Susan Klug; And Others

    1995-01-01

    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…

  10. A case of Gilles de la Tourette's syndrome.

    PubMed

    Prakash, Jyoti; Singh, Pragnya; Bhat, P S; Srivastava, K; Gupta, Vikash

    2015-01-01

    Gilles de la Tourette's syndrome is an uncommon illness associated with repetitive un-voluntary abnormal movements and utterance. It is often associated with other psychiatric morbidities. Management requires awareness of this uncommon illness, keen observation, relevant evaluation, and combination of pharmacology and psychotherapy for an optimal outcome. This case is brought out here for florid presentation and nuances of management. PMID:27212827

  11. Concurrent insulinoma with mosaic Turner syndrome: A case report

    PubMed Central

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

    2015-01-01

    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

  12. Bilateral Anterior Opercular Syndrome With Partial Kluver-Bucy Syndrome in a Stroke Patient: A Case Report.

    PubMed

    Cho, Ah-Ra; Lim, Young-Ho; Chung, Sae-Hoon; Choi, Eun-Hi; Lim, Jong Youb

    2016-06-01

    Bilateral anterior opercular syndrome and partial Kluver-Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver-Bucy syndrome. PMID:27446793

  13. Bilateral Anterior Opercular Syndrome With Partial Kluver–Bucy Syndrome in a Stroke Patient: A Case Report

    PubMed Central

    2016-01-01

    Bilateral anterior opercular syndrome and partial Kluver–Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver–Bucy syndrome. PMID:27446793

  14. Churg Strauss Syndrome – A Case Report

    PubMed Central

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

    2014-01-01

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

  15. Rehabilitation of Susac Syndrome: A Case Report.

    PubMed

    Ramey, Lindsay N; Lopez, Edrick; Young, Timothy

    2016-04-01

    A 43-yr-old man presented with headaches, forgetfulness, and personality changes. Based on imaging, there was concern for acute disseminated encephalomyelitis. He improved with steroids and immunoglobulin. When symptoms recurred, magnetic resonance imaging showed new scattered gray and white matter lesions, many within the corpus callosum. Angiogram showed multiple branch retinal artery occlusions, pathognomonic for Susac syndrome. He was treated with steroids, intravenous immunoglobulin, and cytoxan and was sent to acute rehabilitation. Functional Independence Measure score improved from 65 to 108. Follow-up at 6 and 10 mos showed continued improvement, with full return to his premorbid roles at home and work. The adjunct of acute rehabilitation to traditional treatment may have promoted faster recovery than expected based on previous reports. PMID:26829078

  16. Cutis Laxa syndrome: a case report

    PubMed Central

    Hbibi, Mohamed; Abourazzak, Sana; Idrissi, Mounia; Chaouki, Sana; Atmani, Samir; Hida, Moustapha

    2015-01-01

    Cutis laxa (CL) is a heterogeneous group of inherited and acquired connective tissue disorders characterized by a loose skin and variable systemic involvement (inguinal hernia, cardiopulmonary disease, and emphysema). Autosomal dominant, autosomal recessive and x-linked recessive patterns have been described in the inherited forms. Acquired forms of this disease have been associated with a previous inflammatory skin disorder (urticaria…). The characteristic symptomatological pattern is resulting from paucity of elastic fibers. We report an 18 months old baby boy with a congenital cutis laxa. He was admitted in pediatric unit for respiratory disorders. The diagnosis of CL syndrome is based on clinical assessment of typical skin features and the associated extracutaneous finding. PMID:25995800

  17. Cronkhite-Canada Syndrome (CCS)-A Rare Case Report.

    PubMed

    Chakrabarti, Subrata

    2015-03-01

    Cronkhite-Canada syndrome (CCS) is an extremely rare non-inherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, weight loss and diarrhoea. The aetiology is probably autoimmune and diagnosis is based on history, physical examination, endoscopic findings of gastrointestinal polyposis, and histology. The disease is very rare; approximately 450 cases of CCS have been reported worldwide. The author reports a case of CCS in an elderly Indian male.

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

    PubMed

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

    2007-12-15

    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

  19. Contrasting Case Definitions for Chronic Fatigue Syndrome, Myalgic Encephalomyelitis/Chronic Fatigue Syndrome and Myalgic Encephalomyelitis

    PubMed Central

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

    2013-01-01

    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

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

    PubMed

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

    2012-09-01

    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.

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

    PubMed Central

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

    2015-01-01

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

  2. The Hutchinson-Gilford Progeria Syndrome: a case report.

    PubMed

    Russo-Menna, I; Arancibias, C

    2010-02-01

    The HGPS (Hutchinson Gilford Progeria Syndrome) is a rare genetic disorder with an incidence of 1 per 8 million live births. Originally described in 1886, less than 100 cases have been reported. The syndrome is characterized by premature aging with changes in many organs. The diagnosis is usually made by age 2, the mean survival age is 13.4 years and the most common cause of death is myocardial infarction. Recent genetic advances have identified the cause as a defect in the LMNA gene of chromosome 1.

  3. Post-vaccination frozen shoulder syndrome. Report of 3 cases.

    PubMed

    Degreef, I; Debeer, Ph

    2012-01-01

    The cause of frozen shoulder syndrome is unknown in most cases, although it can be preceded by minor trauma. Here, we report 3 patients with severe frozen shoulder after an intramuscular vaccination in the deltoid muscle. A distention arthrography resulted in good pain relief and improved the mobility. Frozen shoulder syndrome can be a severe manifestation of vaccination-related shoulder dysfunction. Correct intramuscular administration is crucial to prevent post-vaccination frozen shoulder and on the other hand, physicians' awareness is needed to recognize this feature early on.

  4. Lenz microphthalmia syndrome with dental anomalies: a case report.

    PubMed

    Ersin, Nazan Kocatas; Tugsel, Zuhal; Gökce, Bülent; Ozpinar, Birgül; Eronat, Nesrin

    2003-01-01

    This report describes the dental management and 7-year follow-up of a 14-year-old boy who showed the typical characteristics of Lenz microphthalmia syndrome, a rare genetic disorder characterized by multiple abnormalities. The main features of the syndrome are microphthalmia, developmental retardation, ear abnormalities, microcephaly, skeletal, digital and urogenital anomalies. The dental anomalies include micrognathia, hypodontia, agenesis of permanent teeth, conic-shaped incisors, and taurodontic molars. The purpose of the report was to document specific oral manifestations and dental anomalies and their management associated with a previously reported case.

  5. Systemic Inflammatory Syndrome Associated with a Case of Jugular Paraganglioma.

    PubMed

    Sokabe, Ayuko; Mizooka, Masafumi; Sakemi, Rinne; Kobayashi, Tomoki; Kishikawa, Nobusuke; Yokobayashi, Kenichi; Kanno, Keishi; Tazuma, Susumu

    2016-01-01

    Jugular paraganlioma is a benign, slow-growing tumor originating from the paraganglion cells and it is associated with catecholamine secretion. Paragangliomas can secrete Interleukin-6 (IL-6) and present as a systemic inflammatory syndrome; these characteristics have not been previously associated with jugular paragangliomas. A 63-year-old man with a jugular tumor in the skull base was referred to our hospital for an evaluation of pyrexia, back pain, and acute inflammation. His serum IL-6 level was elevated on admission and it decreased after radiotherapy. This is the first known case of a jugular paraganglioma exhibiting systemic inflammatory syndrome. PMID:27477424

  6. Case reports of oculofaciocardiodental syndrome with unusual dental findings.

    PubMed

    Oberoi, Snehlata; Winder, Alison E; Johnston, Jennifer; Vargervik, Karin; Slavotinek, Anne M

    2005-07-30

    We report on two new cases of oculofaciocardiodental (OFCD) syndrome characterized by cataracts, microphthalmia, facial anomalies, cleft palate, cardiac septal defects, and canine radiculomegaly. We also review previous patients. The syndrome is caused by mutations in the BCOR gene, which maps to Xp11.4. Mutational analysis in one of our patients showed a deletion of a single nucleotide, c.2613delC, predicting a novel frameshift mutation with a premature stop codon, p.F871Lfs8X. PMID:15957158

  7. Dermato-neuro syndrome in a case of scleromyxedema

    PubMed Central

    Savran, Yusuf; Akarsu, Sevgi

    2015-01-01

    Scleromyxedema is an uncommon connective tissue disease characterized by mucin deposits, fibrosis, and proliferation of fibroblasts in the dermis. Although it shares similar sclerodermoid features, it is a different clinical entity than scleroderma. A monoclonal gammopathy is almost always present; however, progression to multiple myeloma is rare. It may have many systemic manifestations, of which the most notable being the dermato-neuro syndrome because of its rarity and potential fatal outcome. We present a case of a 50-year-old woman with scleromyxedema in whom the dermato-neuro syndrome developed.

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

    PubMed Central

    Iacopetti, Corina L.; Packer, Clifford D.

    2014-01-01

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

  9. Unilateral, Linear Blue Rubber Bleb Nevus Syndrome (Bean's syndrome): An Unfamiliar Presentation: First Case from India

    PubMed Central

    Sancheti, Karan; Podder, Indrashis; Das, Anupam; Choudhury, Sourav; Chandra, Somodyuti; Gharami, Ramesh Chandra

    2015-01-01

    Blue rubber bleb nevus syndrome (BRBNS) also called Bean's syndrome is a rare disorder characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the gastrointestinal tract. We report here, a 21-year-old woman patient, who presented with unilateral, blaschkoid distribution of cutaneous venous malformations along with blue rubber bleb nevus and recurrent episodes of hematochezia due to vascular lesions in the sigmoid colon; likely to be a case of BRBNS. The unusual unilateral, blaschkoid distribution of BRBNS prompted this present report. PMID:26677281

  10. Pregnancy in sick sinus syndrome with pacemaker - two cases.

    PubMed

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

    2013-04-01

    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.

  11. Case Report of Sump Syndrome after Laser Conjunctivodacryocystorhinostomy

    PubMed Central

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

    2015-01-01

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

  12. [Mayer-Rokitansky-Küster-Hauser syndrome: two cases report].

    PubMed

    Ávila-Vergara, Marco Antonio; León-Álvarez, Damián Alfredo; López-Villegas, Miriam Nayeli; Quintero-Medrano, Samantha Melissa; Angulo-Bueno, Gladys Fabiola; Vadillo-Ortega, Felipe

    2015-03-01

    Agenesia of the Müllerian ducts is a low-frequency congenital disease but with devastating effects on women's reproductive health. In this paper we present two cases of women affected by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). First case was a 17-year-old woman with aplasia of the upper vagina and absence of uterus. No other defects were found and was classified as type 1-MRKH. Second case was 18-year-old woman with absence of uterus, escoliosis and polycystic ovary syndrome, classified as type II-MRKH. Patients were seen at the Hospital with primary amenorrhea and fully developed secondary sexual characteristics. A clinical follow-up protocol, including the use of high-resolution image studies was used for diagnosis. Diagnostic procedures and current medical approaches to the treatment of MRKH are discussed, including psychological advisory, surgical procedures and new tissue-engineering techniques.

  13. Unexplained neuropsychiatric symptoms in intensive care: A Fahr Syndrome case.

    PubMed

    Calili, Duygu Kayar; Mutlu, Nevzat Mehmet; Mutlu Titiz, Ayse Pinar; Akcaboy, Zeynep Nur; Aydin, Eda Macit; Turan, Isil Ozkocak

    2016-08-01

    Fahr Syndrome is a rare disease where calcium and other minerals are stored bilaterally and symmetrically in the basal ganglia, cerebellar dentate nucleus and white matter. Fahr Syndrome is associated with various metabolic disorders, mainly parathyroid disorders. The presented case discusses a 64-year old male patient admitted to the intensive care unit of our hospital diagnosed with aspiration pneumonia and urosepsis. The cranial tomography examination to explain his nonspecific neurological symptoms showed bilateral calcifications in the temporal, parietal, frontal, occipital lobes, basal ganglia, cerebellar hemisphere and medulla oblongata posteriorly. His biochemical test results also indicated parathormone-calcium metabolic abnormalities. Fahr Syndrome must be considered for a definitive diagnosis in patients with nonspecific neuropsychiatric symptoms and accompanying calcium metabolism disorders in order to control serious morbidity and complications because of neurological damage. PMID:27524543

  14. A rare case of Turner's syndrome presenting with Mullerian agenesis

    PubMed Central

    Vaddadi, Suresh; Murthy, Ramana S. V.; Rahul, C. H.; Kumar, Vinod L.

    2013-01-01

    Turner's syndrome also called as Ullrich Turner's syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature. Various anomalies result in a constellation of features, of which the most disturbing is primary amenorrhea due to gonadal dysgenesis. Hormone therapy in these patients can often result in successful menstruation, and scope for subsequent pregnancy because of anatomically normal uterus and vagina. Coexisting Mullerian agenesis in these patients can jeopardize the chances of future pregnancy as they have associated structural abnormalities of the uterus and vagina. We report a rare case of middle-aged female with Turner's syndrome and Mullerian agenesis having absent secondary sexual characters and missing uterus with incompletely formed vagina. PMID:24672170

  15. Unexplained neuropsychiatric symptoms in intensive care: A Fahr Syndrome case.

    PubMed

    Calili, Duygu Kayar; Mutlu, Nevzat Mehmet; Mutlu Titiz, Ayse Pinar; Akcaboy, Zeynep Nur; Aydin, Eda Macit; Turan, Isil Ozkocak

    2016-08-01

    Fahr Syndrome is a rare disease where calcium and other minerals are stored bilaterally and symmetrically in the basal ganglia, cerebellar dentate nucleus and white matter. Fahr Syndrome is associated with various metabolic disorders, mainly parathyroid disorders. The presented case discusses a 64-year old male patient admitted to the intensive care unit of our hospital diagnosed with aspiration pneumonia and urosepsis. The cranial tomography examination to explain his nonspecific neurological symptoms showed bilateral calcifications in the temporal, parietal, frontal, occipital lobes, basal ganglia, cerebellar hemisphere and medulla oblongata posteriorly. His biochemical test results also indicated parathormone-calcium metabolic abnormalities. Fahr Syndrome must be considered for a definitive diagnosis in patients with nonspecific neuropsychiatric symptoms and accompanying calcium metabolism disorders in order to control serious morbidity and complications because of neurological damage.

  16. Childhood Bartter's syndrome: An Indian case series.

    PubMed

    Sampathkumar, K; Muralidharan, U; Kannan, A; Ramakrishnan, M; Ajeshkumar, R

    2010-10-01

    This is a retrospective analysis of children diagnosed with Bartter's syndrome (BS) between 2001 and 2009 in our hospital. Seven children (six males) were diagnosed with BS. The mean age at presentation was 6.5 ± 4.9 months. The presenting features were failure to thrive,vomiting, polyuria, and dehydration. All children were normotensive at admission. The children exhibited alkalemia (pH, 7.58 ± 0.03), hypokalemia (serum potassium, 2.62 ± 0.47 mEq/l), hypochloremia (serum chloride, 82.83 ± 16.7 mEq/l), and hyponatremia (serum sodium, 126.85 ± 3.56 mEq/l). Disproportionate urinary wasting of sodium, potassium, and chloride were seen. The diagnosis was confirmed by elevated serum levels of both renin and aldosterone with normotension. Indomethacin or ibuprofen therapy resulted in marked improvement in general condition of these children. In conclusion, a high index of suspicion should be entertained in children with failure to thrive to diagnose BS. Therapy with NSAIDs leads to marked improvement in the general well being. PMID:21206684

  17. Sarcoidosis and Antiphospholipid Syndrome: A Systematic Review of Cases

    PubMed Central

    Pathak, Ranjan; Khanal, Raju; Aryal, Madan Raj; Giri, Smith; Karmacharya, Paras; Pathak, Basanta; Acharya, Upasana; Bhatt, Vijaya Raj

    2015-01-01

    Association between sarcoidosis and antiphospholipid syndrome (APS) is rare with few reported cases. We sought to systematically review the published cases of APS with sarcoidosis to better characterize the demographics, clinical characteristics, treatment, and the outcome of this association. Systematic electronic search for case report, case series, and related articles published until May 2014 was carried out and relevant data were extracted and analyzed. Four cases of APS with sarcoidosis were identified exclusively in females. These cases were seen in the sixth decade of life. Pulmonary embolism and central retinal artery occlusion were the presenting thrombotic events. All the patients were treated with lifelong anticoagulation with warfarin. During the median follow-up period of 5.5 months, additional thrombotic events were not observed. Although rare, sarcoidosis may be associated with APS. Further reporting of the cases will help to better establish this association, elucidate pathogenesis, and define clinical characteristics and outcomes. PMID:26605200

  18. Associated congenital anomalies among cases with Down syndrome.

    PubMed

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-12-01

    Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

  19. Associated congenital anomalies among cases with Down syndrome.

    PubMed

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-12-01

    Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

  20. Overlap between Majewski and hydrolethalus syndromes: a report of two cases.

    PubMed

    Sharma, A K; Phadke, S; Chandra, K; Upreti, M; Khan, E M; Naveed, M; Agarwal, S S

    1992-08-01

    We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, type Majewski. It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib-polydactyly syndromes.

  1. A case of congenital central hypoventilation syndrome.

    PubMed

    Kameyama, Yoshinobu; Wagatsuma, Toshihiro; Nakamura, Miho; Kurosawa, Shin; Saito, Koji; Hoshi, Kunihiko

    2012-12-01

    We encountered a 2-year-old female infant with congenital central hypoventilation syndrome (CCHS) who underwent an abdominal operation for strangulated ileus. Prior to the surgery, at home, the infant had been receiving non-invasive positive-pressure ventilation (NPPV) support only during sleep. However, after postoperative extubation, the blood oxygen saturation (SpO(2)) decreased to approximately 90 % with NPPV during sleep alone, necessitating the use of biphasic cuirass ventilation (BCV) along with NPPV for 2 days. The infant was weaned from the BCV on hospital day 9, and was discharged from the intensive care unit (ICU) on hospital day 13. Although it has been said that CCHS is not under the control of the respiratory center, there are no reports of the true CO(2) response curves in these patients. Therefore, during respiratory management in the ICU post-surgery, we examined (with the consent of the mother) the relationship of the end-tidal carbon dioxide (ETCO(2)) to the tidal volume and respiratory rate, for a period of 6 min in the absence of sedation, using a respiratory profile monitor. Electrocardiographic and SpO(2) monitoring was also conducted at the same time, to ensure the patient's safety. In this patient, while the ETCO(2) increased, the tidal volume and respiratory rate remained unchanged. No relationship was found between the tidal volume and the respiratory rate. Various modalities have been used for the treatment of CCHS (tracheotomy, NPPV, and diaphragmatic pacing). Treatment of these patients in the ICU should be tailored to the needs of individual patients and their families. PMID:22790414

  2. A forensic case of Munchausen's syndrome.

    PubMed

    Canogullari, Gulsin; Ulupinar, Emel; Teyin, Muharrem; Balci, Yasemin

    2007-04-01

    The case of a 37-year-old cleaning worker, who applied to the court with a claim of being fired from her job due to permanent functional loss of her left arm triggered by a stroke following a work accident, is presented. The court has forwarded the case to the forensic medicine department for further evaluation and documentation of the judicial report. Examination of the medical files has revealed that the person applied to our and other hospitals with various symptoms simulating urologic, neurological, musculoskeletal, cardiovascular, and pulmonary disorders. The person had been hospitalized for extensive, costly, and often invasive medical examinations and/or treatment, and deceived the physicians into carry out unnecessary diagnostic procedures. No objective signs or evidence related to a work accident or stroke was obtained from the medical records. She has been followed up with the diagnosis of lymphangitis, thrombophlebitis and repeated cellulities since 2001, and the infection had been caused by intentional insertion of glass pieces into her left arm. The reason why she was unable to use her left arm was because of contraction related to the repeated soft tissue infection rather than the claimed work accident. This case was not only trying the medical personnel to make errors and confusion, but also attempting to mislead the judgment. Therefore, in forensic cases, medical history of patient must be evaluated carefully.

  3. Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report.

    PubMed

    Malaki, Majid; Rafeey, Mandana

    2012-01-01

    In this case report, we present the first diagnosed case of Galloway-Mowat syndrome in Iran. A 7 month old infant boy withmicrocephaly that had prominently stunted head growth afterbirth, gastroesophageal reflux, multiple craniofascial characters,hypothyroidism and nephrotic syndrome diagnosed at 5 monthsof age associated with rapid decline in renal function and heavyproteinuria in 2 months .

  4. Propofol Infusion Syndrome or Not? A Case Report

    PubMed Central

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

    2014-01-01

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

  5. Gorlin and Goltz Syndrome: A Case Report with Surgical Review

    PubMed Central

    Surendraji Jain, Eesha; P Badole, Gautam

    2013-01-01

    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

  6. [A case of Charles Bonnet syndrome following syphilitic optic neuritis].

    PubMed

    Ogata, Hidenori; Shigeto, Hiroshi; Torii, Takako; Kawamura, Nobutoshi; Ohyagi, Yasumasa; Kira, Jun-ichi

    2011-08-01

    Charles Bonnet syndrome refers to visual hallucinations in patients with visual acuity loss or visual field loss without dementia. We report a case of Charles Bonnet syndrome following syphilitic optic neuritis. A 62-year-old man was admitted to our hospital suffering acute bilateral visual loss in a few months. On admission, he was almost blind and his optic discs were found to be atrophic on fundoscopy. In addition to increased cell counts and protein concentration in cerebrospinal fluid (CSF), serum and CSF rapid plasma reagin tests were positive. A diagnosis of syphilitic optic neuritis was made and he was treated with intravenous penicillin G (24 million units per day for 14 days) without any recovery. After treatment finished, he began to experience complex, vivid, elaborate and colored visual hallucinations. He recognized these visions as unreal and felt distressed by them. No cognitive impairment was observed on several neuropsychological tests. We diagnosed the patient as suffering from Charles Bonnet syndrome. Brain MRI revealed diffuse mild atrophy of the cerebral cortex and multiple T2 high signal intensity lesions in the deep cerebral white matter. Single photon emission computed tomography revealed decreased regional cerebral blood flow in bilateral medial occipital lobes. Administration of olanzapine resulted in a partial remission of visual hallucinations. Charles Bonnet syndrome following syphilitic optic neuritis is rare. In the present case, visual loss and dysfunction of bilateral medial occipital lobes may have triggered the visual hallucinations, which were alleviated by olanzapine.

  7. [Two cases of scleroderma associated with vibration syndrome].

    PubMed

    Matsumoto, Y; Kawabe, M; Yasue, T; Yuguchi, M; Yoshida, I

    1989-02-01

    Case 1, a 49-year-old male who had been engaged in repair and reclamation of automobile tires, developed symptoms of vibration syndrome (Raynaud's phenomenon, numbness of both hands, tinnitus and impaired hearing) after some 30 years' use of a grinder and impact wrench. Two years thereafter, multiple sclerodermic lesions appeared over the trunk, upper extremities, and thighs; these disappeared about 2 years later. Histologically, hyperplasia and nodular swelling of collagen bundles were present in the dermis. An immunological study showed the serum to be positive for anti-centromere antibody, but no visceral lesions were demonstrable. This case corresponded to generalized morphea. Case 2, a 53-year-old male, developed symptoms of vibration syndrome (Raynaud's phenomenon, numbness of both hands, impaired hearing and arthralgia) after 25 years' use of a jack hammer in a quarry. Thereafter, sclerodermic changes of the forearms, lower legs, face and abdomen occurred with an associated sclerodactyly. Histological examination of involved skin revealed diffuse hyperplasia and homogenization of collagen bundles throughout the entire thickness of the dermis. These findings, together with serum positivity for anti-RNP antibody and dilation of the lower portion of the esophagus, led us to a diagnosis of progressive systemic sclerosis. We inferred that the vibration syndrome in the present cases might be related etiologically to these forms of scleroderma.

  8. Adams-Oliver Syndrome: A Case with Full Expression

    PubMed Central

    Dehdashtian, Amir; Dehdashtian, Masoud

    2016-01-01

    Adams-Oliver syndrome (AOS) is characterized by the combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb defects of variable severity. It is believed that Adams-Oliver syndrome without major organ abnormalities does not necessarily alter the normal lifespan. We present a case without detectable major organ abnormality contrary to life but with poor weight gain. A male infant with scalp and skin cutis aplasia, generalized cutis aplasia, dilated veins over scalp and trunk, hypoplastic toes and nails of feet, glaucoma, poor feeding and poor weight gain. This report shows a case of AOS without major multiple organ abnormalities but with poor feeding and abnormal weight gain that may be alter the normal lifespan. PMID:27433307

  9. Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case.

    PubMed

    Güvenç, Osman; Sündüs Uygun, Saime; Çimen, Derya; Aslan, Eyüp; Annagür, Ali

    2016-09-01

    Jeune syndrome (Asphyxiating thoracic dysplasia) is a rare dystrophy of the skeleton, inherited as an autosomal recessive condition. Patients develop a narrowed thorax, rhizomelic dwarfism, and hepatic, renal, and pancreatic abnormalities. High rates of pulmonary hypoplasia and pulmonary hypertension have been reported. Some patients die in early stages of life due to respiratory failure. The case of a patient referred with a history of severe asphyxiating birth, who had been diagnosed with Jeune syndrome and later hypertrophic cardiomyopathy (HCM) upon echocardiographic examination is described in the present report. This rare disease is discussed with respect to the current literature, as the present is the first reported case to be accompanied by HCM. PMID:27665332

  10. A case of femoral fracture in klippel trenaunay syndrome.

    PubMed

    Nahas, Sam; Wong, Fabian; Back, Diane

    2014-01-01

    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

  11. A Case of Capgras Syndrome Related to Hypothyroidism.

    PubMed

    Hines, Aisha; Stewart, Jonathan T; Catalano, Glenn

    2015-11-01

    Hypothyroidism is commonly associated with a variety of psychiatric conditions, most commonly depression and cognitive impairment, but up to 5% to 15% of symptomatically hypothyroid patients may develop a nonaffective psychosis, classically referred to as "myxedema madness." We report the case of a woman who developed Capgras syndrome in the context of hypothyroidism, and whose psychosis rapidly resolved with levothyroxine supplementation. To date, very few cases of Capgras syndrome related to hypothyroidism have been reported. The pathophysiology of this condition remains unclear but it may be related to global cerebral hypometabolism or possibly to increased cerebral dopamine. Given the robust response of "myxedema madness" to thyroid replacement, psychiatrists should remain vigilant for covert hypothyroidism in patients with psychosis and atypical histories or presentations.

  12. Three cases of embolia cutis medicamentosa (Nicolau's syndrome).

    PubMed

    Marangi, Giovanni Francesco; Gigliofiorito, Pierluigi; Toto, Vito; Langella, Marika; Pallara, Tiziano; Persichetti, Paolo

    2010-05-01

    Embolia cutis medicamentosa, also known as Nicolau's syndrome, is a rare complication due to i.m. injections. Its real incidence is actually underestimated. Many drugs have been associated with it, but at the time only a few studies showed a related pathogenetic mechanism. Symptoms consist of immediate local pain, edema and cutaneous, subcutaneous and even muscular necrosis occurring in the first 48 h. The type of treatment depends mostly on time of diagnosis. A medical resolution can be achieved through heparin and cortisone injections within the first 48 h. Surgical debridement has to be considered as the main treatment in case of late diagnosis. We present three cases of Nicolau's syndrome presenting to us in a short period of time that we treated with surgical debridement.

  13. Psychogenic Foreign Accent Syndrome: A New Case

    PubMed Central

    Keulen, Stefanie; Verhoeven, Jo; De Page, Louis; Jonkers, Roel; Bastiaanse, Roelien; Mariën, Peter

    2016-01-01

    This paper presents the case of a 33-year-old, right-handed, French-speaking Belgian lady who was involved in a car accident as a pedestrian. Six months after the incident she developed a German/Flemish-like accent. The patient's medical history, the onset of the FAS and the possible psychological causes of the accent change are analyzed. Relevant neuropsychological, neurolinguistic, and psychodiagnostic test results are presented and discussed. The psychodiagnostic interview and testing will receive special attention, because these have been underreported in previous FAS case reports. Furthermore, an accent rating experiment was carried out in order to assess the foreign quality of the patient's speech. Pre- and post-morbid spontaneous speech samples were analyzed phonetically to identify the pronunciation characteristics associated with this type of FAS. Several findings were considered essential in the diagnosis of psychogenic FAS: the psychological assessments as well as the clinical interview confirmed the presence of psychological problems, while neurological damage was excluded by means of repeated neuroimaging and neurological examinations. The type and nature of the speech symptoms and the accent fluctuations associated with the patient's psychological state cannot be explained by a neurological disorder. Moreover, the indifference of the patient toward her condition may also suggest a psychogenic etiology, as the opposite is usually observed in neurogenic FAS patients. PMID:27148003

  14. Psychogenic Foreign Accent Syndrome: A New Case.

    PubMed

    Keulen, Stefanie; Verhoeven, Jo; De Page, Louis; Jonkers, Roel; Bastiaanse, Roelien; Mariën, Peter

    2016-01-01

    This paper presents the case of a 33-year-old, right-handed, French-speaking Belgian lady who was involved in a car accident as a pedestrian. Six months after the incident she developed a German/Flemish-like accent. The patient's medical history, the onset of the FAS and the possible psychological causes of the accent change are analyzed. Relevant neuropsychological, neurolinguistic, and psychodiagnostic test results are presented and discussed. The psychodiagnostic interview and testing will receive special attention, because these have been underreported in previous FAS case reports. Furthermore, an accent rating experiment was carried out in order to assess the foreign quality of the patient's speech. Pre- and post-morbid spontaneous speech samples were analyzed phonetically to identify the pronunciation characteristics associated with this type of FAS. Several findings were considered essential in the diagnosis of psychogenic FAS: the psychological assessments as well as the clinical interview confirmed the presence of psychological problems, while neurological damage was excluded by means of repeated neuroimaging and neurological examinations. The type and nature of the speech symptoms and the accent fluctuations associated with the patient's psychological state cannot be explained by a neurological disorder. Moreover, the indifference of the patient toward her condition may also suggest a psychogenic etiology, as the opposite is usually observed in neurogenic FAS patients. PMID:27148003

  15. Wolfram syndrome: case report and review of the literature.

    PubMed

    Ari, Seyhmus; Keklíkçí, Uğur; Caça, Ihsan; Unlü, Kaan; Kayabaşi, Hasan

    2007-01-01

    Wolfram syndrome (WFS) is a rare diffuse neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of central nervous system abnormalities. Insulin-dependent diabetes mellitus with optic nerve atrophy is sufficient criteria for the diagnosis. WFS is a devastating disease for the patients and their families. This study emphasizes the need for careful evaluation of cases having insulin-dependent diabetes mellitus and optic atrophy.

  16. Fat embolism syndrome: Case report of a clinical conundrum.

    PubMed

    Nandi, Roneeta; Venkategowda, Pradeep Marur; Mutkule, Dnyaneshwar; Rao, Surath Manimala

    2014-07-01

    Fat embolism syndrome is a rare clinical condition associated with trauma, particularly of long bones. FES after fracture of neck of femur or head of humerus is uncommon. We report a case of FES following fracture in neck of femur and head of humerus in a man with history of mitral valve replacement, on long-term oral anticoagulant therapy, with an alleged history of convulsions. Our dilemma in clinical diagnosis is discussed. PMID:25190956

  17. Progressive hemifacial atrophy (Parry-Romberg syndrome). Case report.

    PubMed

    Mazzeo, N; Fisher, J G; Mayer, M H; Mathieu, G P

    1995-01-01

    Progressive hemifacial atrophy (Parry-Romberg syndrome) is a slowly progressing facial atrophy of subcutaneous fat and the wasting of associated skin, cartilage, and bone. This disorder includes an active progressive phase (2 to 10 years) followed by a burning out of the atrophic process with subsequent stability. This article presents a review of the literature and a case report with unique dental involvement as a result of this disease process.

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

    PubMed Central

    2014-01-01

    Introduction Myasthenia gravis is an autoimmune disease characterized by fluctuating muscle weakness. It is often associated with other autoimmune disorders, such as thyroid disease, rheumatoid arthritis, systemic lupus erythematosus, and antiphospholipid syndrome. Many aspects of autoimmune diseases are not completely understood, particularly when they occur in association, which suggests a common pathogenetic mechanism. Case presentation We report a case of a 42-year-old Caucasian woman with antiphospholipid syndrome, in whom myasthenia gravis developed years later. She tested negative for both antibodies against the acetylcholine receptor and against muscle-specific receptor tyrosine-kinase, but had typical decremental responses at the repetitive nerve stimulation testing, so that a generalized myasthenia gravis was diagnosed. Her thromboplastin time and activated partial thromboplastin time were high, anticardiolipin and anti-β2 glycoprotein-I antibodies were slightly elevated, as a manifestation of the antiphospholipid syndrome. She had a good clinical response when treated with a combination of pyridostigmine, prednisone and azathioprine. Conclusions Many patients with myasthenia gravis test positive for a large variety of auto-antibodies, testifying of an immune dysregulation, and some display mild T-cell lymphopenia associated with hypergammaglobulinemia and B-cell hyper-reactivity. Both of these mechanisms could explain the occurrence of another autoimmune condition, such as antiphospholipid syndrome, but further studies are necessary to shed light on this matter. Clinicians should be aware that patients with an autoimmune diagnosis such as antiphospholipid syndrome who develop signs and neurological symptoms suggestive of myasthenia gravis are at risk and should prompt an emergent evaluation by a specialist. PMID:24380508

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

    SciTech Connect

    Patel, S.V.; Dagnew, H.; Parekh, A.J.

    1994-09-01

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

  20. A case of Poland Syndrome associated with dextroposition.

    PubMed

    Lacorte, Doriana; Marsella, Maria; Guerrini, Pietro

    2010-02-20

    Classical Poland Syndrome (PS) is characterized by unilateral, partial or complete absence of the sternocostal head of the major pectoral muscle and brachysyndactyly of fingers on the same side. We report the case of a newborn infant with dextrocardia and PS located on the left side. This association is very rare: to date only 19 cases have been described in scientific literature. In all reported cases, as in the present, the Poland defect involved the left side and was associated to rib defects, whereas most cases of PS are on the right side and few have rib defects. This case supports the view that dextrocardia follows the loss of volume of the left hemithorax caused by Poland sequence and that the combination of PS and dextrocardia is not coincidental.

  1. A case study of delayed serotonin syndrome: lessons learned.

    PubMed

    Pearce, Shannon; Ahned, Nasiva; Varas, Grace M

    2009-01-01

    Serotonin syndrome is a potentially life-threatening condition that results from excessive serotonin agonism of the central and peripheral nervous system. Though serotonin syndrome is most often associated with ingestion of more than one serotonergic drug, many other mechanisms have been associated with serotonergic excess. This case study presents a 79-year-old African-American female, an assisted living resident, who presented to the emergency department with altered mental status, acute onset of "chills," reduced appetite, urinary incontinence, and an elevated temperature of 103 degrees F (39.4 degrees C). Extensive initial diagnostic findings were negative for urinary tract infection, systemic infection, pneumonia, myocardial infarction, and stroke. Despite aggressive medical management, including intravenous hydration and broad-spectrum antibiotics, the patient continued to become more confused, agitated, and despondent over the subsequent 24 hours. The initial working diagnosis did not include serotonin syndrome, but once other studies did not reveal an etiology of the symptoms and the patient continued to be delirious, paroxetine was discontinued and all symptoms resolved within 48 hours of last dose. Voluntary reporting, postmarketing surveillance, and implementation of well-designed randomized clinical trials are all mechanisms to gather data on serotonin syndrome. These practices will provide future researchers with needed information to solidify diagnostic criteria, educate health care professionals, and safeguard the public against this preventable and potentially lethal drug-drug interaction. PMID:19275460

  2. Lance–Adams syndrome: A special case of a mother

    PubMed Central

    Nigam, Gaurav Bhaskar; Babu, Sachin Suresh; Peter, C. Sudhir; Peter, C. Shobhna

    2016-01-01

    Predicting the neurological outcome in survivors of cardiorespiratory arrest is difficult. A distinction has been made between acute and chronic posthypoxic myoclonus, called myoclonic status epilepticus and Lance–Adams syndrome (LAS), respectively, with the acute condition carrying a bad prognosis. Here, we report a case of a 37-year-old female who developed seizures after a successful cardiopulmonary resuscitation. The available literature on such cases is very rare and has generally mentioned a poor outcome. However, our patient was successfully managed and showed clinical features of LAS. Thus, making an early diagnosis and proper management of hypoxic brain insults is positively related to improving the patient's functional outcome.

  3. Constitutional trisomy 8 mosaicism syndrome: case report and review.

    PubMed

    Udayakumar, Achandira M; Al-Kindy, Adila

    2013-12-01

    Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder. PMID:27625859

  4. Constitutional trisomy 8 mosaicism syndrome: case report and review

    PubMed Central

    Udayakumar, Achandira M.; Al-Kindy, Adila

    2013-01-01

    Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder. PMID:27625859

  5. Lance-Adams syndrome: A special case of a mother.

    PubMed

    Nigam, Gaurav Bhaskar; Babu, Sachin Suresh; Peter, C Sudhir; Peter, C Shobhna

    2016-09-01

    Predicting the neurological outcome in survivors of cardiorespiratory arrest is difficult. A distinction has been made between acute and chronic posthypoxic myoclonus, called myoclonic status epilepticus and Lance-Adams syndrome (LAS), respectively, with the acute condition carrying a bad prognosis. Here, we report a case of a 37-year-old female who developed seizures after a successful cardiopulmonary resuscitation. The available literature on such cases is very rare and has generally mentioned a poor outcome. However, our patient was successfully managed and showed clinical features of LAS. Thus, making an early diagnosis and proper management of hypoxic brain insults is positively related to improving the patient's functional outcome. PMID:27688633

  6. The laparoscopic management of Swyer syndrome: Case series.

    PubMed

    Malhotra, Neena; Dadhwal, Vatsla; Sharma, Kandala Aparna; Gupta, Deepika; Agarwal, Sumita; Deka, Dipika

    2015-01-01

    Swyer syndrome, also known as 46 XY pure gonadal dysgenesis, is a rare endocrine disorder. Affected individuals are phenotypically female with female genitalia, normal Mullerian structures, absent testicular tissue, and a 46 XY chromosomal constitution. We report a series of eight cases of Swyer syndrome, of which six were managed by laparoscopic gonadectomy. The two other cases had to undergo an exploratory laparotomy in view of their presentation with adnexal masses. Two of the girls were siblings. The chief presenting complaint was primary amenorrhea. Four girls also presented with a history of poor development of secondary sexual characters. The average age at presentation was 16.19±2.85 years. The average height was 158.33 ±4.63 cm, and the average weight was 49.33±8.44 kg. Breast development was either Tanner 2 or 3 in four girls, whereas three girls had a Tanner 1 underdeveloped breasts. Axillary and pelvic hair was sparse in all the girls. The vagina was well canalized in all the girls. Hormonal evaluation revealed hypergonadotropic hypogonadism with a mean follicle-stimulating hormone (FSH) level of 95.81 mIU/L and a mean luteinizing (LH) level of 24.15 mIU/L. Imaging analysis revealed the presence of a small uterus in all the cases, except one. Bilateral ovaries were either not visualized or streak gonads were present. Adnexal mass was detected in two of the six cases with raised carcinoembryonic antigen (CA) 125 levels in one case. Genetic analysis revealed a karyotype of 46 XY in six girls, 46 XY/45 X in one, and the culture repeatedly failed in one girl. Because of the risk of malignancy, bilateral gonadectomy was performed in all cases. Histopathological analysis revealed that three of the six cases had dysgerminoma. The patients have been started on hormone replacement therapy. Laparoscopy is a minimally invasive modality for the definitive diagnosis and treatment of cases with Swyer syndrome. An early diagnosis of Swyer syndrome is possible

  7. Broken heart syndrome: a case report.

    PubMed

    Jenab, Yaser; Taher, Mohamad; Shirzad, Samira

    2012-08-01

    Stress-induced cardiomyopathy or Takotsubo cardiomyopathy is a recently increasing diagnosed disease manifested by transient apical or mid left ventricular dilation and dysfunction. This sign is similar to acute myocardial infarction but without significant coronary artery stenosis. There are important and essential differences between Takotsubo cardiomyopathy and acute myocardial infarction in terms of management, necessitating a good understanding of the pathophysiology, diagnosis, and treatment of the former.We report a case of Takotsubo cardiomyopathy which presented with dizziness and near syncope after an intense emotional stress. Electrocardiogram showed ST-T changes in V1-V3 and echocardiography revealed severe left ventricular systolic dysfunction with marked regional wall motion abnormalities. Coronary angiography demonstrated minimal coronary artery disease.The patient was treated with beta -blockers, angiotensin-converting enzyme inhibitors, Aspirin, Clopidogrel, and diuretics. At the follow-up visit, all the symptoms had disappeared and control echocardiography showed significant improvement in the left ventricular systolic function with a normal ejection fraction and normal wall motion. PMID:23304183

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

    PubMed Central

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

    2013-01-01

    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

  9. Mouse models of ciliopathies: the state of the art

    PubMed Central

    Norris, Dominic P.; Grimes, Daniel T.

    2012-01-01

    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

  10. Compartment syndrome after total knee arthroplasty: regarding a clinical case.

    PubMed

    Pinheiro, Ana Alexandra da Costa; Marques, Pedro Miguel Dantas Costa; Sá, Pedro Miguel Gomes; Oliveira, Carolina Fernandes; da Silva, Bruno Pombo Ferreira; de Sousa, Cristina Maria Varino

    2015-01-01

    Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury.

  11. Cases Report the Cronkhite-Canada Syndrome: Improving the Prognosis.

    PubMed

    Yu, Yi Qun; Whorwell, Peter James; Wang, Lin Heng; Li, Jun Xiang; Chang, Qing; Meng, Jie

    2015-12-01

    Cronkhite-Canada syndrome (CCS) is a rare nongenetic polyposis syndrome first reported by Cronkhite and Canada in 1955. Up to the present time, the literature consists of ∼400 cases of CCS with the majority being reported from Japan although 49 cases have been described in China.CCS is characterized by diffuse polyposis of the digestive tract in association with ectodermal changes, such as onychomadesis, alopecia, and cutaneous hyperpigmentation. The principal symptoms of CCS are diarrhea, weight loss, abdominal pain, and other gastrointestinal complications, such as protein-losing enteropathy and malnutrition.It has been traditional to consider that CCS is associated with a poor prognosis. This paper describes a relatively mild case and reviews the literature, which more recently, suggests that it may be a more benign condition that might actually be reversible with treatment.There is some evidence that infection or disturbed immunity may be involved in the pathophysiology and that targeting such abnormalities could have therapeutic potential.A strong case could be made for establishing an international case registry for this disease so that the pathophysiology, treatment, and prognosis could become much better understood. PMID:26717374

  12. Morvan Syndrome: A Case Report With Patient Narrative and Video.

    PubMed

    Maskery, Mark; Chhetri, Suresh K; Dayanandan, Rejith; Gall, Claire; Emsley, Hedley C A

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management.

  13. Sjögren's Syndrome and Silicosis - a Case Report.

    PubMed

    Plavsic, Aleksandra; Miskovic, Rada; Bolpacic, Jasna; Šuštran, Branka; Peric-Popadic, Aleksandra; Bogic, Mirjana

    2015-06-15

    Sjögren's syndrome is an autoimmune disease of unknown etiology where immune response to self-antigens is believed to result from interactions between genetic and environmental factors. We describe the case of a patient who has been diagnosed with Sjögren's syndrome based on typical clinical and immunological parameters. The clinical picture was dominated by the respiratory symptoms, and radiographic and multislice computed tomography examination of the chest showed certain changes characteristic of pneumoconiosis. Given that the patient has worked in a foundry where he has been exposed to the silica dust, he was subject to examination by occupational health specialists under the suspicion of lung silicosis, who confirmed the silicosis. This case report points to the possible connection between a professional exposure to silica and Sjögren's syndrome. Occupational exposure to silica is a possible risk factor for the development of autoimmune diseases, and in the evaluation of patients with connective tissue diseases it is important to consider work-related history. PMID:27275245

  14. [Lynch syndrome: case report and review of the literature].

    PubMed

    Bouguenouch, Laila; Samri, Imane; Belhassan, Khadija; Sayel, Hanane; Abbassi, Meriame; Bennis, Sanae; Benajah, Dafr Allah; Ibrahimi, Adil; Amarti, Afaf; Ouldim, Karim

    2016-01-01

    Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary colorectal cancers. It increases cancer susceptibility, the risk of colorectal cancer in first-degree, endometrial cancer in women, and to a lesser extent, other cancers (ovarian, small bowel, stomach, urinary tract and hepatobiliary). Thus, the cumulative risk of developing colorectal cancer or endometrial cancer at the age of 80 years rises to 20 and 40% respectively. These cancers are characterized by a positive family history, their occurrence at an early age, and by the development of metachronous cancers in the same individual. This syndrome is transmitted in an autosomal dominant manner. The genes whose alteration is associated with the presence of an HNPCC belong to the family of DNA mismatch repair genes (DNA mismatch repair or MMR): MSH2, MLH1, and MSH6 are involved, in decreasing order of frequency, in 35%, 25% and 2% of cases respectively. Colonoscopic and gynecological monitoring is recommended for patients with a constitutional mutation in MSH2, MLH1 or Msh6 genes. We report one of the first moroccan case with Lynch syndrome whose constitutional mutation in the MLH1 gene was identified in a family member with colon cancer. In reply to the inquiry ofother healthy family members, a presymptomatic diagnosis was made allowing to formulate an appropriate monitoring strategy. Our study aims to highlight the role of oncogenetics in the management of patients with cancer and their families. PMID:27642480

  15. Carpal tunnel syndrome in childhood: study of 6 cases.

    PubMed

    Cruz Martínez, A; Arpa, J

    1998-08-01

    Six children, 4 girls and two boys, aged 5-14 years, with carpal tunnel syndrome (CTS) are reported. Median nerve entrapment had different aetiologies in each case. One patient developed unilateral CTS symptoms after intensive basketball training. He improved upon terminating this sporting activity. In 3 patients bilateral CTS was associated with Schwartz-Jampel syndrome, trigger finger and mucopolysaccharidosis I (MPS IS = Scheie syndrome), respectively. The latter subject, a boy aged 11 years who had severe bilateral muscle thenar weakness and atrophy, made a good recovery after surgery. Two cases with bilateral CTS had autosomal dominant disease. One of them showed familial CTS with thickening of the transverse carpal ligament. The other child (5 years old) presented early bilateral CTS as first manifestation of hereditary neuropathy with liability to pressure palsies (HNPP). His relatives were asymptomatic, but they showed electrophysiological and nerve biopsy changes consistent with HNPP. Nerve conduction studies (NCS) are diagnostic in paediatric CTS. Moreover, NCS is an objective method to evaluate the evolution of the nerve lesions after surgery. NCS must be performed in nerves of the propositus other than the median, as well as in first degree symptomatic and asymptomatic relatives in order to identify possible familial neuropathies.

  16. [Antiphospolipid syndrome related chorea gravidarum case with psychotic symptoms misdiagnosed as conversion disorder: case report].

    PubMed

    Kuz Tekşut, Tuba; Özcan, Halil; Işık, Mein; Karslı, Fatih

    2013-01-01

    Chorea gravidarum (CG) is a rare movement disorder characterized by rapid, irregular randomly distributed involuntary movements during pregnancy. Similar to Sydenham chorea, psychiatric symptoms may be observed in cases of CG. CG may be idiopathic or secondary to an underlying cause. One of the most common causes of CG is antiphospholipid syndrome. Herein we present a case of recurrent CG that was considered to be due to antiphospholipid syndrome. The patient had a history of 3 pregnancy losses and her fourth pregnancy was treated appropriately, resulting in the birth of healthy full-term baby. During the patient's first pregnancy CG was accompanied by psychotic symptoms and was misdiagnosed as conversion disorder.

  17. A case of Gianotti Crosti syndrome with HBV infection.

    PubMed

    Dikici, B; Uzun, H; Konca, C; Kocamaz, H; Yel, S

    2008-01-01

    Gianotti-Crosti syndrome (papular acrodermatitis of childhood), which was first described in 1955, is a nonspecific rash that usually consists of the abrupt onset of pink flesh coloring, smooth or lichenoid, flat-topped papules. It was first related to hepatitis B virus (HBV) infection; however, cases not associated with HBV infection were reported as well. Although a type of delayed hypersensitivity reaction is speculated as a cause, exact pathogenesis still remains unclear. The prognosis is favorable and successful management relies upon general supportive and symptomatic care. We report a seven-year-old boy diagnosed with Gianotti-Crosti syndrome with monomorphous papules on his cheeks, buttocks and extremities associated with hepatitis B virus infection.

  18. [Glomerulocystic kidney disease and hemolytic-uremic syndrome: clinicopathological case].

    PubMed

    Vera-Sempere, F; Zamora, I; Simón, J M

    2000-01-01

    Glomerulocystic kidney is a heterogeneous group of conditions morphologically characterised by multiple cortical cysts apparently originated from a cystic dilation of the filtration space with atrophy of the glomerular tufts. We report a case of glomerulocystic kidney affecting a 13-year-old boy who underwent renal transplantation for end-stage renal disease following a haemolytic-uraemic syndrome diagnosed nine years ago. The absence of other stigmas (urinary obstruction, extrarenal congenital abnormalities and family history of cystic kidney disease) suggest that our observation is apparently a sporadic and acquired glomerulocystic kidney following a haemolytic-uraemic syndrome, an infrequent association previously reported only twice. Our histological and immunohistochemical findings suggest that the cysts in this rare condition are really of glomerular origin but the pathogenesis of cyst development remains unknown.

  19. Metronidazole Toxicity in Cockayne Syndrome: A Case Series.

    PubMed

    Wilson, Brian T; Strong, Andrew; O'Kelly, Sean; Munkley, Jennifer; Stark, Zornitza

    2015-09-01

    Cockayne syndrome (CS) is a rare genetic disorder characterized by small stature, intellectual disability, and accelerated pathologic aging. Through the Cockayne Syndrome Natural History Study, we have identified 8 cases of acute hepatic failure after metronidazole administration (8% of our cohort), 3 of which were fatal. The interval between initial administration and death was 6 to 11 days. Two of these patients also experienced acute neurologic deficit. Both hepatotoxicity and acute neurologic deficit have been reported previously as extremely rare adverse events after metronidazole administration. However, we have not identified any patients with CS who have received metronidazole without serious adverse effects. We recommend that a diagnosis of CS be considered an absolute contraindication to the use of metronidazole. PMID:26304821

  20. Chronic Rhinosinusitis and Irritable Bowel Syndrome: A Case Report

    PubMed Central

    Kogan, Mikhail; Castillo, Carlos Cuellar; Barber, Melissa S.

    2016-01-01

    Introduction Chronic rhinosinusitis (CRS) and irritable bowel syndrome (IBS) can be comorbidities that are difficult to treat. In this patient, an evidence-informed treatment pathway guided by laboratory biomarkers was used to address both conditions. Case Presentation A 69-y-old female patient presented with a 50-y history of sinusitis that was worse in the winter, postnasal drip, frequent sore throats, gastrointestinal complaints, headaches, and yeast infections. Two sinus surgeries (in years 2000 and 2002) and multiple courses of antibiotics had not resolved her sinus symptoms. In addition to CRS and IBS, this patient was noted to have intestinal overgrowth of Candida albicans, multiple food sensitivities, and leaky gut syndrome. Conclusion Antifungal medication and dietary changes in the course of 8 mo resulted in the resolution of her CRS and IBS. PMID:27547167

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

    PubMed Central

    Olusanya, Bolutife Ayokunnu

    2015-01-01

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

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

    PubMed Central

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

    2013-01-01

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

  3. A Challenging Case of an Ectopic Cushing Syndrome

    PubMed Central

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

    2014-01-01

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

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

    PubMed Central

    Thakur, Arpita Rai; Naikmasur, Venkatesh G

    2014-01-01

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

  5. Association of reversible splenial lesion syndrome (RESLES) with Anti-VGKC autoantibody syndrome: a case report.

    PubMed

    Gilder, Thomas R; Hawley, Jason S; Theeler, Brett J

    2016-05-01

    A 50-year-old male presented with complaints of fatigue, confusion, and memory problems. Neurological evaluation revealed altered cognition, unsteady gait, ataxia, dysmetria, and weakness. MRI of the brain was initially unremarkable. Over several days, the patient experienced improvement of symptoms and a follow-up MRI revealed a small lesion in the splenium of the corpus callosum seen on diffusion weighted and T2 sequences. The patient was discovered to have elevated anti-voltage gated potassium channel serum autoantibodies. Follow-up MRI revealed resolution of the splenial lesion. The patient was treated with intravenous immune globulin, and improved back to his pre-treatment baseline. We believe this to be the first case of a reversible splenial lesion syndrome as a manifestation of the anti-voltage gated potassium channel autoantibody syndrome, and propose a pathophysiologic mechanism.

  6. Association of reversible splenial lesion syndrome (RESLES) with Anti-VGKC autoantibody syndrome: a case report.

    PubMed

    Gilder, Thomas R; Hawley, Jason S; Theeler, Brett J

    2016-05-01

    A 50-year-old male presented with complaints of fatigue, confusion, and memory problems. Neurological evaluation revealed altered cognition, unsteady gait, ataxia, dysmetria, and weakness. MRI of the brain was initially unremarkable. Over several days, the patient experienced improvement of symptoms and a follow-up MRI revealed a small lesion in the splenium of the corpus callosum seen on diffusion weighted and T2 sequences. The patient was discovered to have elevated anti-voltage gated potassium channel serum autoantibodies. Follow-up MRI revealed resolution of the splenial lesion. The patient was treated with intravenous immune globulin, and improved back to his pre-treatment baseline. We believe this to be the first case of a reversible splenial lesion syndrome as a manifestation of the anti-voltage gated potassium channel autoantibody syndrome, and propose a pathophysiologic mechanism. PMID:26743064

  7. Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness.

    PubMed

    Ahmad, Afzal; D'Souza, Benedicta; Yadav, Charu; Agarwal, Ashish; Kumar, Anand; Nandini, M; D'Souza, Vivian; Poornima, A M; Kamath, Nutan

    2016-10-01

    Alstrom's syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till now only 800 patients with this disorder has been identified so far. In this report, we describe the case of a 9-year old male boy from south India. He had been initially referred for polyphagia, polyuria, polydipsia, generalized weakness from 1 weeks. On examination he was demonstrated features suggestive of AS, including blindness, obesity, type 2 diabetes, altered lipid profile, hypogonadism, acanthosis nigricans, seborrheic dermatitis, right ear discharge and episodes of respiratory tract infections. So, diagnosis of AS is critical as it can easily be overlooked because of the many features associated with metabolic syndrome starting at age 7, a relatively early age. PMID:27605748

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

    PubMed

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

    2014-01-01

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

  9. Night Eating Syndrome: Report of a family case.

    PubMed

    Sevinçer, Güzin M; Allison, Kelly C

    2016-08-01

    Night eating syndrome (NES) represents a circadian delay in the pattern of eating. As there are genetic links for other eating- and circadian-based disorders, it is likely that there is a genetic basis for NES as well. We present a family case study of three identified patients and their extensive family history of NES and co-morbid mood disorders. This case report suggested that NES may have a heritable feature, particularly nocturnal ingestions. Of the seven identified cases, four had co-morbid mood disorders, and all descended from a couple with bipolar disorder and delusional disorder. More work is needed to understand the extent of genetic influence on NES, and the relationship between NES and other psychiatric disorders.

  10. Night Eating Syndrome: Report of a family case.

    PubMed

    Sevinçer, Güzin M; Allison, Kelly C

    2016-08-01

    Night eating syndrome (NES) represents a circadian delay in the pattern of eating. As there are genetic links for other eating- and circadian-based disorders, it is likely that there is a genetic basis for NES as well. We present a family case study of three identified patients and their extensive family history of NES and co-morbid mood disorders. This case report suggested that NES may have a heritable feature, particularly nocturnal ingestions. Of the seven identified cases, four had co-morbid mood disorders, and all descended from a couple with bipolar disorder and delusional disorder. More work is needed to understand the extent of genetic influence on NES, and the relationship between NES and other psychiatric disorders. PMID:27093391

  11. Leg Weakness Caused by Bilateral Piriformis Syndrome: A Case Report

    PubMed Central

    Moon, Hee Bong; Kwon, Bum Sun; Park, Jin Woo; Ryu, Gi Hyeong; Lee, Ho Jun; Kim, Chang Jae

    2015-01-01

    Piriformis syndrome (PS) is an uncommon neuromuscular disorder caused by the piriformis muscle (PM) compressing the sciatic nerve (SN). The main symptom of PS is sciatica, which worsens with certain triggering conditions. Because the pathophysiology is poorly understood, there are no definite diagnostic and therapeutic choices for PS. This case report presents a young woman who mainly complained of bilateral leg weakness. Electromyography revealed bilateral sciatic neuropathy and magnetic resonance imaging confirmed structural lesions causing entrapment of the bilateral SNs. After a laborious diagnosis of bilateral PS, she underwent PM releasing surgery. Few PS cases present with bilateral symptoms and leg weakness. Therefore, in such cases, a high level of suspicion is necessary for accurate and prompt diagnosis and treatment. PMID:26798622

  12. Wells' Syndrome Mimicking Facial Cellulitis: A Report of Two Cases.

    PubMed

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

    2015-01-01

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

  13. A case study of Plummer-Vinson syndrome.

    PubMed

    Sinha, Vikas; Prajapati, Bela; George, Ajay; Gupta, Devang

    2006-10-01

    The case series presents the pattern of association of different co-morbid conditions of Plummer Vinson's Syndrome. The commonest morbidity is web at post cricoid level. The symptoms of dysphagia are more common and there appears to be a female preponderance. The presenting age us usually 5th decade. Although association with post cricoid carcinoma has been reported but only 10% of cases in the present series had carcinoma at the time of presentation. The effect of iron and B-complex supplementation has been clinically appraised and good symptomatic relief has been seen. Maybe this measure can prevent the progression to malignancy. Bouginage was effective in relieving symptoms in all the cases it was tried.

  14. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report.

    PubMed

    Melek, Mehmet; Edirne, Yesim; Beger, Burhan; Cetin, Mecnun

    2009-01-01

    Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is a quite rare congenital and fatal disease which was firstly defined by Berdon and his colleagues. It appears through a widely enlarged bladder and microcolon and its cause is unknown (Berdon et al., 1976; Carmelo et al., 2005; Makhija et al., 1999; Loening-Baucke and Kimura 1999; Redman et al., 1984; Hsu et al., 2003; Yigit et al., 1996; Srikanth et al., 1993). The disease is found in females three or four times more than in males (Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). Most of the cases die within the early months of their lives (Yigit et al., 1996; Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). We present the case of a female newborn with antenatal ultrasound revealing intestinal mass and bilateral hydroureteronephrosis. The case was admitted for intestinal obstruction after birth.

  15. Cracked tooth syndrome: A report of three cases

    PubMed Central

    Sadasiva, Kadandale; Ramalingam, Sathishmuthukumar; Rajaram, Krishnaraj; Meiyappan, Alagappan

    2015-01-01

    Cracked tooth syndrome (CTS), the term was coined by Cameron in 1964, which refers to an incomplete fracture of a vital posterior tooth extending to the dentin and occasionally into the pulp. CTS has always been a nightmare to the patient because of its unpredictable symptoms and a diagnostic dilemma for the dental practitioner due to its variable, bizarre clinical presentation. The treatment planning and management of CTS has also given problems and challenges the dentist as there is no specific treatment option. The management of CTS varies from one case to another or from one tooth to another in the same individual based on the severity of the symptoms and depth of tooth structure involved. After all, the prognosis of such tooth is still questionable and requires continuous evaluation. This article aims at presenting a series three cases of CTS with an overview on the clinical presentation, diagnosis and the different treatment options that varies from one case to another. PMID:26538947

  16. The HELLP syndrome in the antiphospholipid syndrome: retrospective study of 16 cases in 15 women

    PubMed Central

    Le Thi, Thuong D; Tieulie, N; Costedoat, N; Andreu, M; Wechsler, B; Vauthier-Brouzes, D; Aumaitre, O; Piette, J

    2005-01-01

    Objective: To study the characteristics of the haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome in the antiphospholipid syndrome (APS) and its influence on the subsequent pregnancies. Methods: This was a retrospective analysis of 16 episodes of HELLP complicating APS in 15 women. Results: HELLP was complete in 10 cases and partial in six. It occurred during the second trimester in seven cases (the earliest at 18 weeks' gestation), the third trimester in seven cases, and the day following delivery in two cases. Pre-eclampsia was present in six cases and eclampsia in five. Outcome of pregnancies was: live birth (n = 8), stillbirth (n = 2) and fetal death (n = 6). APS was primary in nine women and secondary to systemic lupus erythematosus (SLE) in six. HELLP revealed primary APS in six cases. Seven women were not treated. Low dose aspirin was empirically prescribed in one woman whose APS had been undiagnosed despite a history of two fetal deaths. In the other women, therapy consisted of aspirin (n = 8), low molecular weight heparin with a dose varying between 3000 and 12 000 U daily (n = 5), and high dose immunoglobulin every 4 weeks (n = 2), hydroxychloroquine (n = 4), and prednisone (n = 6). Six women had seven subsequent pregnancies, 3–6 years after the complicated pregnancy. HELLP recurred at 33 weeks' gestation in one woman with SLE treated with prednisone, hydroxychloroquine, aspirin, and enoxaparin, and pregnancy ended in live birth. One woman became pregnant after in vitro fertilisation and embryo transfer, but pregnancy ended in fetal death despite prednisone, hydroxychloroquine, and enoxaparin. Four women had five uneventful pregnancies with 100 mg daily aspirin and heparin. Conclusions: APS may be revealed by HELLP. In APS, HELLP is associated with pre-eclampsia/eclampsia in most cases and seems to occur earlier than in the general population. Heparin plus aspirin may prevent obstetric complications in the subsequent pregnancies. PMID

  17. Felty's Syndrome as an initial presentation of Rheumatoid Arthritis: a case report

    PubMed Central

    2009-01-01

    Introduction Felty's syndrome is an uncommon but severe extra-articular manifestation of rheumatoid arthtitis. Felty's syndrome is characterized by the triad of rheumatoid arthtitis, neutropenia, and splenomegaly. The lifetime risk of Felty's syndrome for a rheumatoid arthtitis patient is less than 1% and there are only few case reports of Felty's syndrome with neutropenia preceded clinical evidence of arthritis. We present a case which is atypical presentation of Felty's syndrome without arthritis. Case presentation We present a case of 31-year-old man who presented with fever and skin infection, found to have neutropenia. The work up showed splenomegaly and other evidences support Felty's syndrome diagnosis without arthritis presentation. Conclusion Patients with unexplained, continuous neutropenia without arthristis but with high level of rheumatoid factor and positive antibodies to cyclic citrullinated peptides should be suspected of developing Felty's syndrome as an initial presentation of rheumatoid arthtitis. PMID:19946450

  18. A Case of Turner Syndrome with Multiple Embolic Infarcts

    PubMed Central

    Yoon, Cindy W.; Lee, Eungseok; Yoon, Byung-Nam; Park, Hee-Kwon; Rha, Joung-Ho

    2016-01-01

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

  19. Choledochal cyst mimicking Mirizzi's syndrome A case report.

    PubMed

    Frattaroli, Fabrizio Maria; Coiro, Saverio; Nunziale, Aldo; De Lucia, Francesco; Frattaroli, Jacopo Maria; Pappalardo, Giuseppe

    2014-01-01

    Choledochal cysts are cystic dilatations of the intra or extra-hepatic biliary tract with an incidence of 1 case per 150.000 live births. Cysts usually are diagnosed in childhood, but diagnosis can be delayed until adulthood in the 20-50% of cases. Clinical manifestations comprise abdominal pain with biliary or pancreatic features. Mirizzi's syndrome is a late and rare complication, that occurs in 1% of patients with cholelithiasis due to extrinsic compression of the common bile duct by stones impacted either in the gallbladder or in the cystic duct. Clinical symptoms include extrahepatic obstructive jaundice, ascending cholangitis, or, in the later course, cholecystocholedocal fistula. For both pathologies the Endoscopic Retrograde Cholangio Pancreatography and the Magnetic Resonance Cholangio Pancreatography should lead to the diagnosis with a sensibility and a specificity up to 100%. We report the case of a 66 year old patient admitted to the Emergency Department of our hospital for jaundice and abdominal pain, whom both the endoscopic and radiologic examination showed a Mirizzi's syndrome but surgery revealed a type I choledocal cyst. PMID:25600242

  20. Choledochal cyst mimicking Mirizzi's syndrome: a case report.

    PubMed

    Frattaroli, Fabrizio Maria; Coiro, Saverio; Nunziale, Aldo; De Lucia, Francesco; Frattaroli, Jacopo Maria; Pappalardo, Giuseppe

    2014-01-01

    Choledochal cysts are cystic dilatations of the intra or extra-hepatic biliary tract with an incidence of 1 case per 150.000 live births. Cysts usually are diagnosed in childhood, but diagnosis can be delayed until adulthood in the 20-50% of cases. Clinical manifestations comprise abdominal pain with biliary or pancreatic features. Mirizzi's syndrome is a late and rare complication, that occurs in 1% of patients with cholelithiasis due to extrinsic compression of the common bile duct by stones impacted either in the gallbladder or in the cystic duct. Clinical symptoms include extrahepatic obstructive jaundice, ascending cholangitis, or, in the later course, cholecystocholedocal fistula. For both pathologies the Endoscopic Retrograde Cholangio Pancreatography and the Magnetic Resonance Cholangio Pancreatography should lead to the diagnosis with a sensibility and a specificity up to 100%. We report the case of a 66 year old patient admitted to the Emergency Department of our hospital for jaundice and abdominal pain, whom both the endoscopic and radiologic examination showed a Mirizzi's syndrome but surgery revealed a type I choledocal cyst. PMID:25336283

  1. An unusual case of Weil's syndrome with paraparesis

    PubMed Central

    Patil, Virendra C.; Patil, Harsha V.; Sakaria, Amit; Tryambake, Satish

    2011-01-01

    Leptospirosis is an important emerging zoonosis with a worldwide distribution that is characterized by a broad spectrum of clinical manifestations ranging from inapparent infection to fulminant disease. Leptospirosis has protean clinical manifestations. The classical presentation of the disease is an acute biphasic febrile illness with or without jaundice. Unusual clinical manifestations may result from involvement of pulmonary, cardiovascular, neural, gastrointestinal, ocular and other systems. Immunological phenomena secondary to antigenic mimicry may also be an important component of many clinical features and may be responsible for reactive arthritis. The presentation of paraparesis in combination with Weil's syndrome is rare. Few cases were reported with leptospirosis and paraparesis in India and abroad. It is important to bear in mind that leptospiral illness may be a significant component in cases of dual infections or in simultaneous infections with more than two pathogens. Here we are reporting a case of Weil's syndrome with paraparesis in 28-year-old male patient who was critically ill due to severe hepatorenal dysfunction and hyperkalemia. PMID:21814381

  2. Choledochal cyst mimicking Mirizzi's syndrome: a case report.

    PubMed

    Frattaroli, Fabrizio Maria; Coiro, Saverio; Nunziale, Aldo; De Lucia, Francesco; Frattaroli, Jacopo Maria; Pappalardo, Giuseppe

    2014-05-19

    Choledochal cysts are cystic dilatations of the intra or extra-hepatic biliary tract with an incidence of 1 case per 150.000 live births. Cysts usually are diagnosed in childhood, but diagnosis can be delayed until adulthood in the 20-50% of cases. Clinical manifestations comprise abdominal pain with biliary or pancreatic features. Mirizzi's syndrome is a late and rare complication, that occurs in 1% of patients with cholelithiasis due to extrinsic compression of the common bile duct by stones impacted either in the gallbladder or in the cystic duct. Clinical symptoms include extrahepatic obstructive jaundice, ascending cholangitis, or, in the later course, cholecystocholedocal fistula. For both pathologies the Endoscopic Retrograde Cholangio Pancreatography and the Magnetic Resonance Cholangio Pancreatography should lead to the diagnosis with a sensibility and a specificity up to 100%. We report the case of a 66 year old patient admitted to the Emergency Department of our hospital for jaundice and abdominal pain, whom both the endoscopic and radiologic examination showed a Mirizzi's syndrome but surgery revealed a type I choledocal cyst.

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

    PubMed

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

    2015-01-01

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

  4. Case report: comprehensive management of medial tibial stress syndrome.

    PubMed

    Krenner, Bernard John

    2002-01-01

    Activity or exercise-induced leg pain is a common complication among competitive and "weekend warrior" athletes. Shin splints is a term that has been used to describe all lower leg pain as a result of activity. There are many different causes of "shin splints," one of which is medial tibial stress syndrome, and the treating clinician must be aware of potentially serious causes of activity related leg pain. Restoring proper biomechanics to the entire kinetic chain and rehabilitation of the injured area should be the primary aim of treatment to optimize shock absorption. The role inflammation plays in medial tibial stress syndrome is controversial, but in this case, seemed to be a causative factor as symptomatology was dramatically decreased with the addition of proteolytic enzymes. Medial tibial stress syndrome can be quite difficult to treat and keeping athletes away from activities that will slow healing or aggravate the condition can be challenging. "Active" rest is the best way in which to allow proper healing while allowing the athlete to maintain their fitness.

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

    PubMed

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

    2014-07-01

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

  6. Capsular block syndrome: a case report and literature review

    PubMed Central

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

    2014-01-01

    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

  7. Bronchoscopic concerns in Proteus syndrome: a case report

    PubMed Central

    Hong, Jung-Min; Kim, Eun Soo; Kim, Hae-Kyu; Jeon, Soeun; Kim, Hyae-Jin

    2016-01-01

    Proteus syndrome (PS) is a rare congenital hamartomatous disorder with multisystem involvement. PS shows highly clinical variability due to overgrowth of the affected areas, and several features can make anesthetic management challenging. Little is known about the airway problem associated with anesthesia in PS patients. An 11-year-old girl with PS was scheduled for ear surgery under general anesthesia. She had features complicating intubation including facial asymmetry and disproportion, abnormal teeth, limitation of neck movement due to torticollis, and thoracolumbar scoliosis. This study reports on a case of deformed airway of a PS patient under fiberoptic bronchoscopy. PMID:27703636

  8. An autopsy case of malignant lymphoma with Lyell's syndrome.

    PubMed

    Sadi, A M; Toda, T; Kiyuna, M; Tamamoto, T; Ohshiro, K; Shinzato, R

    1995-08-01

    We present a case of fatal Lyell's syndrome which developed following a CT examination using omnipaque 3000 contrast medium. A 59-year-old man was suffering from malignant lymphoma. He was readmitted to this hospital due to relapse of fever and lymph node swelling. On the day of readmission, generalized erythema, purpura, and mucosal erosions developed after a CT examination. Steroids and chemotherapy were ineffective, and he expired approximately two weeks after admission. Drug-induced dermatopathy or leukemic cell infiltration in the skin was clinically suspected. Histological findings disclosed toxic epidermal necrolysis. PMID:7560459

  9. [Blue rubber bleb nevus syndrome: A case report].

    PubMed

    López-Ugalde, M V; Cazares-Méndez, M J; Vivar-Aquino, L D; Cadena-León, J F; Cervantes-Bustamante, R; Zárate-Mondragón, F; Montijo-Barrios, E; Ramírez-Mayans, J

    2012-01-01

    Blue Rubber Bleb Nevus Syndrome (BRBS) is a rare disease, characterized by multiple vascular malformations in the skin and gastrointestinal tract. Other organs can also be affected, presenting different clinical manifestations such as arthralgia, epistaxis, hemoptysis, hematuria, hemothorax, mild thrombocytopenia, consumptive coagulopathy, and bone deformities, among others. We present a case of BRBS in a nine-year-old boy with the characteristic clinical manifestations of punctated purplish-blue skin lesions that vary in size and gastrointestinal vascular malformations with upper digestive tract bleeding.

  10. Neuroleptic Malignant Syndrome: A Case Aimed at Raising Clinical Awareness

    PubMed Central

    Al Danaf, Jad; Madara, John; Dietsche, Caitlin

    2015-01-01

    A 60-year-old man with a history of bipolar disorder on risperidone, bupropion, and escitalopram was admitted for community acquired streptococcal pneumonia. Four days later, he developed persistent hyperthermia, dysautonomia, rigidity, hyporeflexia, and marked elevation of serum creatine phosphokinase. He was diagnosed with neuroleptic malignant syndrome (NMS) and improved with dantrolene, bromocriptine, and supportive therapy. This case emphasizes the importance of considering a broad differential diagnosis for fever in the ICU, carefully reviewing the medication list for all patients, and considering NMS in patients with fever and rigidity. PMID:26170837

  11. Spontaneous Tumor Lysis Syndrome in an Infant: A Case Report.

    PubMed

    Shenoy, Mamatha T; D'Souza, Benedicta; Akshatha, Lalesh Naik; D'Souza, Vivian; Rajan, Madan Gopal

    2015-07-01

    Tumor lysis syndrome has been observed in patients with malignancies with high cellular burden and high cell turnover, tumor sensitive to therapy, especially after initiating medical treatment. It very rarely occurs spontaneously. The case described here is of 6 months male infant who presented with fever since 1 month and loose stools associated with blood since 15 days. The laboratory investigations showed lactate dehydrogenase (LDH) of 6,192 IU/L and serum uric acid 18.2 mg/dl along with pancytopenia. The infant presented with electrolyte abnormalities and renal failure. PMID:26089626

  12. [A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly].

    PubMed

    D'Amato Gutiérrez, Mónica; Palacio Díaz, Felipe A

    2016-06-01

    The FATCO syndrome, (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) are bone malformations with main alteration in lower limbs. It is a rare entity and there are few cases reported in international literature, and so far there are not published cases in Colombia. Here we present a case of a male newborn with prenatal and postnatal signs consistent with FATCO syndrome without other organs malformations, and there is a brief discussion about this syndrome and other different malformations associated with it.

  13. Four Case Histories and a Literature Review of Williams Syndrome and Autistic Behavior.

    ERIC Educational Resources Information Center

    Gillberg, Christopher; Rasmussen, Peder

    1994-01-01

    This paper summarizes the case histories of four young children with concurrent autistic disorder and Williams syndrome. Williams syndrome comprises a peculiar facial appearance, learning disorder, and often hypercalcemia, mild microcephaly, large blood vessel stenosis, and a specific behavioral phenotype. Literature on Williams syndrome is…

  14. PHACES syndrome--report of two cases and their evolution over time.

    PubMed

    Browne, Fiona; Rickard, Caroline; Smith, Robert A; Lyon, Calum

    2009-01-01

    We describe two cases of PHACES syndrome that illustrate the importance of recognizing this rare syndrome. As children with this syndrome can present to general pediatricians, dermatologists, pediatric cardiologists, ophthalmologists, and neurologists, it is important that all are aware of the spectrum of associated abnormalities. PMID:20199451

  15. Ross Syndrome: A Case Report and Review of Cases from India

    PubMed Central

    Agarwala, Manoj Kumar; George, Leni; Parmar, Harshad; Mathew, Vivek

    2016-01-01

    Ross syndrome is a rare dysautonomia characterized by a clinical complex of segmental anhidrosis or hypohidrosis, areflexia, and tonic pupils. A very few cases (≃50) have been reported in literature since its original description in 1958. Here, we report the case of a middle-aged homemaker from Odisha, India, who presented with complaints of segmental hypohidrosis for the past 7 years. PMID:27293279

  16. Strongyloides stercoralis hyperinfestation syndrome with Escherichia coli meningitis: report of two cases.

    PubMed Central

    Smallman, L A; Young, J A; Shortland-Webb, W R; Carey, M P; Michael, J

    1986-01-01

    Two cases of Strongyloides stercoralis hyperinfestation syndrome accompanied by Gram negative bacteraemia and meningitis were studied. Both occurred in non-immunosuppressed West Indian women. Images PMID:3517071

  17. [Biopercular syndrome: report of two cases and literature review].

    PubMed

    Millán, Paula Andrea; Montes, María Isabel; Uribe, Carlos Santiago; Cabrera, Dagoberto; Arboleda, Alejandra

    2008-06-01

    The anterior opercular or biopercular syndrome is a cortical pseudobulbar palsy due to bilateral lesions of the anterior brain operculum. It is characterized by preservation of reflex function and automatic activity, without mental impairment. Two cases are reported herein and the relevant literature reviewed. The first case was a 73-year-old female with a history of a stroke occurring seven years previously, without sequelae in the interim. She presented with sudden loss of consciousness. The neurological examination showed a right facial central palsy and anarthria, with reflex acts such as smiling, blinking and yawning, not elicited by commands; she also had a right hemiparesis and walking impairment. A brain CT scan showed an old ischemic infarction in the region of the right medial cerebral artery. Because the right motor involvement did not correlate with the findings of the initial CT scan, another CT scan two days later showed an acute brain infarction in the vicinity of the left medial cerebral artery. The second case was an 8-year-old girl with mental retardation and impairment of verbal development, caused by of biopercular pachygyria. Facio-pharyngo-glosso-masticatory diplegia and volitional selective palsy of the oro-facial muscles was seen in both patients. The neuropsychological assessment showed cognitive, emotional and social interaction impairment in both cases -as part of the frontal convexity syndrome in the first case and of mental retardation in the second. The two patients had difficulty in mastication and swallowing. The prognosis for recovery of verbal capacity is poor, although generally most patients recover the ability to swallow. PMID:18719720

  18. [Neuromyelitis optica spectrum disorders as initial presentation of Sjögren's syndrome: A case report].

    PubMed

    Alva Díaz, Carlos; Andamayo Villalba, Luis; Mori, Nicanor; Ventura Chilón, Jésica Janet; Romero, Roberto

    2016-02-29

    Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare systemic autoimmune disease which is sometimes found in association with other autoimmune disorders including Sjogren's syndrome. Neurological manifestations occur in 20% to 25% of diagnosed cases of Sjögren's syndrome; however, less than 5% of patients with Sjögren's syndrome have neurological manifestations as the initial presenting feature of Sjögren's syndrome. We report the case of an elderly female with longitudinal myelitis as a presenting feature who had positive antibody to aquaporin-4 (NMO-IgG) and Sjögren's syndrome.

  19. Refeeding syndrome in a vegan patient with stage IV gastric cancer: a novel case.

    PubMed

    Brown, Teresa V; Moss, Rebecca A

    2015-03-01

    The refeeding syndrome encompasses the complex physiologic state that occurs in malnourished patients who receive nutrition after a period of decreased oral intake. The hallmark of the syndrome is hypophosphatemia, though other electrolyte imbalances and severe fluid shifts are commonly involved. Patients with newly diagnosed malignancies and those undergoing treatment for malignancies are at increased risk for developing the refeeding syndrome, however there are few reported cases or other data in the oncology literature regarding this syndrome in cancer patients.

  20. Refeeding syndrome in a vegan patient with stage IV gastric cancer: a novel case.

    PubMed

    Brown, Teresa V; Moss, Rebecca A

    2015-03-01

    The refeeding syndrome encompasses the complex physiologic state that occurs in malnourished patients who receive nutrition after a period of decreased oral intake. The hallmark of the syndrome is hypophosphatemia, though other electrolyte imbalances and severe fluid shifts are commonly involved. Patients with newly diagnosed malignancies and those undergoing treatment for malignancies are at increased risk for developing the refeeding syndrome, however there are few reported cases or other data in the oncology literature regarding this syndrome in cancer patients. PMID:25880674

  1. A case report with Fitz-Hugh-Curtis syndrome, what does it mean?

    PubMed

    Muschart, X

    2015-10-01

    Fitz-Hugh-Curtis (FHC) syndrome, also known as acute perihepatitis, was discovered in 1930 and is a rare disorder characterised by inflammation of the peritoneum and the tissues surrounding the liver. This syndrome can arise as a potential complication from a pelvic inflammatory disease caused by Neisseria gonorrhoeae or Chlamydia trachomatis. This syndrome is not well known in the medical community and is often underdiagnosed. In this case report, we revisit FHC syndrome, particularly its noninvasive diagnosis and complications. PMID:26743574

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

    PubMed Central

    2014-01-01

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

  3. Morvan Syndrome: A Case Report With Patient Narrative and Video.

    PubMed

    Maskery, Mark; Chhetri, Suresh K; Dayanandan, Rejith; Gall, Claire; Emsley, Hedley C A

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  4. Specialized Cilia in Mammalian Sensory Systems.

    PubMed

    Falk, Nathalie; Lösl, Marlene; Schröder, Nadja; Gießl, Andreas

    2015-01-01

    Cilia and flagella are highly conserved and important microtubule-based organelles that project from the surface of eukaryotic cells and act as antennae to sense extracellular signals. Moreover, cilia have emerged as key players in numerous physiological, developmental, and sensory processes such as hearing, olfaction, and photoreception. Genetic defects in ciliary proteins responsible for cilia formation, maintenance, or function underlie a wide array of human diseases like deafness, anosmia, and retinal degeneration in sensory systems. Impairment of more than one sensory organ results in numerous syndromic ciliary disorders like the autosomal recessive genetic diseases Bardet-Biedl and Usher syndrome. Here we describe the structure and distinct functional roles of cilia in sensory organs like the inner ear, the olfactory epithelium, and the retina of the mouse. The spectrum of ciliary function in fundamental cellular processes highlights the importance of elucidating ciliopathy-related proteins in order to find novel potential therapies. PMID:26378583

  5. A novel form of ciliopathy underlies hyperphagia and obesity in Ankrd26 knockout mice.

    PubMed

    Acs, Peter; Bauer, Peter O; Mayer, Balazs; Bera, Tapan; Macallister, Rhonda; Mezey, Eva; Pastan, Ira

    2015-01-01

    Human ciliopathies are genetic disorders caused by mutations in genes responsible for the formation and function of primary cilia. Some are associated with hyperphagia and obesity (e.g., Bardet-Biedl Syndrome, Alström Syndrome), but the mechanisms underlying these problems are not fully understood. The human gene ANKRD26 is located on 10p12, a locus that is associated with some forms of hereditary obesity. Previously, we reported that disruption of this gene causes hyperphagia, obesity and gigantism in mice. In the present study, we looked for the mechanisms that induce hyperphagia in the Ankrd26-/- mice and found defects in primary cilia in regions of the central nervous system that control appetite and energy homeostasis. PMID:24633808

  6. [Severe hereditary retinal diseases in childhood].

    PubMed

    Lorenz, B

    1996-01-01

    In dependence on the various statistics, hereditary causes are identified in up to 50% of the visually handicapped and blind school children. Most common are retinal disorders, which account for 15 to 55%. The most important diseases are briefly reviewed: Leber's congenital amaurosis, rod monochromacy, blue cone monochromacy, congenital stationary night blindness (CSNB), X-linked retinitis pigmentosa, Usher syndromes, Bardet-Biedl syndrome, juvenile neuronal ceroid lipofuscinosis Spielmeyer-Vogt, the various forms of albinism, exsudative vitreoretinopathies including Norrie's disease, as well as Stargardt's macular dystrophy, vitelliform macular dystrophy, and hereditary retinoblastoma. In addition to the clinical symptoms, general genetic principles are stressed, such as mode of inheritance, heterogeneity, expressivity, penetrance, age at manifestation, X-chromosomal gene inactivation, and variability. They all have to be taken into account to correctly establish the diagnosis, to identify family members at risk, and to provide adequate genetic counselling. An overview of the actual molecular genetics of the various retinal disorders is also given.

  7. Specialized Cilia in Mammalian Sensory Systems

    PubMed Central

    Falk, Nathalie; Lösl, Marlene; Schröder, Nadja; Gießl, Andreas

    2015-01-01

    Cilia and flagella are highly conserved and important microtubule-based organelles that project from the surface of eukaryotic cells and act as antennae to sense extracellular signals. Moreover, cilia have emerged as key players in numerous physiological, developmental, and sensory processes such as hearing, olfaction, and photoreception. Genetic defects in ciliary proteins responsible for cilia formation, maintenance, or function underlie a wide array of human diseases like deafness, anosmia, and retinal degeneration in sensory systems. Impairment of more than one sensory organ results in numerous syndromic ciliary disorders like the autosomal recessive genetic diseases Bardet-Biedl and Usher syndrome. Here we describe the structure and distinct functional roles of cilia in sensory organs like the inner ear, the olfactory epithelium, and the retina of the mouse. The spectrum of ciliary function in fundamental cellular processes highlights the importance of elucidating ciliopathy-related proteins in order to find novel potential therapies. PMID:26378583

  8. Serotonin Syndrome Induced by Fentanyl in a Child: Case Report.

    PubMed

    Robles, Luis A

    2015-01-01

    Serotonin syndrome (SS) is a potentially fatal condition associated with increased serotonergic activity in the central nervous system that can be attributed to certain drugs or interactions between drugs. There are some published articles reporting this syndrome caused by the combination of fentanyl and selective serotonin reuptake inhibitors antidepressants in adult patients; however, there are no reports of SS associated to the use of fentanyl as a single causative agent. The author reports a case of a 7-year-old boy who was admitted to the emergency department with neurological deterioration secondary to an intracerebral hemorrhage. The patient was operated to remove the bleeding. Postoperatively, he experienced a diversity of progressive neurological signs (shivering, tremor, hypertonia, hyperreflexia, clonus, bilateral mydriasis, and intracranial hypertension), which were initially considered to be signs of neurological deterioration, but finally, it was proved that they were part of a SS caused by fentanyl.The absence of concomitant use of another medications known to induce SS and the dramatic improving observed after stopping fentanyl strongly indicates that fentanyl was the causative agent in this case of SS.Fentanyl is a medication used frequently, and therefore, clinicians should be aware of this potential adverse effect when this drug is administered.

  9. Pulmonary Renal Syndrome After Streptococcal Pharyngitis: A Case Report.

    PubMed

    Mara-Koosham, Gopi; Stoltze, Karl; Aday, Jeffrey; Rendon, Patrick

    2016-01-01

    Pulmonary renal syndrome is a class of small vessel vasculitides that are characterized by the dual presentation of diffuse alveolar hemorrhage (DAH) and glomerulonephritis. Pulmonary renal syndrome has multiple etiologies, but its development has been rarely reported following infection with group A streptococcus. We present the case of a 36-year-old Native American male who was transferred to our facility due to refractory hypoxic respiratory failure. He had been diagnosed with streptococcal pharyngitis 2 weeks prior to admission. Given the presence of hemoptysis, bronchoscopy was performed and was consistent with DAH. Urinalysis demonstrated hematuria and proteinuria, in the setting of elevated creatinine and blood urea nitrogen. Additionally, antistreptolysin O titer was positive. Given the constellation of laboratory findings and history of streptococcal pharyngitis, the patient was diagnosed with PRS secondary to streptococcal infection. High-dose methylprednisolone was initiated with concomitant plasmapheresis. He was extubated successfully after his respiratory status improved and was eventually discharged home after making a full recovery within 2 weeks after admission. This case illustrates the importance of clinically relevant sequelae of streptococcal infection as well as the appropriate treatment of PRS secondary to streptococcal pharyngitis with plasmapheresis and intravenous corticosteroids. PMID:27231692

  10. Conservative management of a case of tarsal tunnel syndrome

    PubMed Central

    Hudes, Karen

    2010-01-01

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

  11. Sturge-Weber Syndrome: A Report of 14 Cases

    PubMed Central

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

    2013-01-01

    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

  12. Special cases in Cornelia de Lange syndrome: The Spanish experience.

    PubMed

    Pié, Juan; Puisac, Beatriz; Hernández-Marcos, Maria; Teresa-Rodrigo, Maria Esperanza; Gil-Rodríguez, Maria; Baquero-Montoya, Carolina; Ramos-Cáceres, Maria; Bernal, Maria; Ayerza-Casas, Ariadna; Bueno, Inés; Gómez-Puertas, Paulino; Ramos, Feliciano J

    2016-06-01

    Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3, and RAD21) or X-linked (SMC1A and HDAC8) disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability, and limb anomalies. In 2005, the Spanish CdLS Reference Center was started and now we have more than 270 cases in our database. In this special issue, we describe some of the unique or atypical patients studied by our group, whose clinical features have contributed to the expansion of the CdLS classical phenotype, helping clinicians to diagnose it. We include the case of a male with unilateral tibial hypoplasia and peroneal agenesis who had a mutation in NIPBL; we also describe one patient with a mutation in NIPBL and somatic mosaicism identified by new generation sequencing techniques; we also include one patient with CdLS and Turner syndrome; and last, an interesting patient with a duplication of the SMC1A gene. Finally, we make a short review of the splicing mutations we have found in NIPBL regarding the new knowledge on the physiological variants of the gene. © 2016 Wiley Periodicals, Inc. PMID:27164022

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

    PubMed

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

    2015-06-13

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

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

    PubMed

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

    2014-10-01

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

  15. Pediatric Ramsay Hunt Syndrome: Analysis of Three Cases

    PubMed Central

    Aydoğdu, İmran; Ataç, Enes; Saltürk, Ziya; Atar, Yavuz; Özdemir, Erdi; Uyar, Yavuz; Arslanoğlu, Ahmet; Berkiten, Güler

    2015-01-01

    Ramsay Hunt syndrome (RHS) is a disorder characterized by herpetic eruptions on the auricle, facial paralysis, and vestibulocochlear dysfunction and is attributed to varicella zoster virus (VZV) infection in the geniculate ganglion. Although it is a common cause of acute peripheral facial paralysis, children are not usually affected. The diagnosis is based on history and physical findings. Treatment of RHS uses a combination of high-dose corticosteroids and acyclovir. This paper presents three cases diagnosed as RHS in the pediatric age group in association with the literature review. The aim of this paper is to emphasize the importance of careful examination and early initiation of therapy in suspected cases of RHS. PMID:26435868

  16. A case report of pornography addiction with dhat syndrome

    PubMed Central

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

    2014-01-01

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

  17. Ehlers-Danlos Syndrome Type IV: A Case Report.

    PubMed

    Soo-Hoo, Sarah; Porten, Brandon R; Engstrom, Bjorn I; Skeik, Nedaa

    2016-04-01

    Ehlers-Danlos syndrome (EDS) encompasses a group of rare genetic connective tissue disorders. The vascular type (type IV) poses the most serious risk to patients. Diagnosis is usually difficult, especially if patients lack a family history. Life-threatening vascular emergency such as dissection or rupture can be the first presenting symptom. Management of the disease can pose a clinical challenge due to the emergency of presentation, tissue friability, and lack of clear management recommendations. We report a unique case of a 40-year-old man who presented with a ruptured celiac artery and a strong family history of EDS. This case highlights the difficulties and complications associated with treating this uncommon and serious disease.

  18. [Middle aortic syndrome: a report of three pediatric cases].

    PubMed

    Martínez León, M I; Alcaide Martín, D; García-Herrera Taillefer, P; Ramos Rodríguez, R

    2013-09-01

    The middle aortic syndrome (MAS) is caused by stenosis of the abdominal aorta, often accompanied by concomitant stenosis of the renal or visceral arteries. Although MAS is uncommon (0.5-2%), it is an important cause of hypertension in children and adolescents. It is thought to originate in a failure of the two dorsal aortas to fuse during embryological development, and a high percentage of cases are idiopathic. MAS affects the segment of the aorta between the renal arteries in 54% of cases. Clinically, it courses with symptomatic or asymptomatic arterial hypertension. On physical examination, findings include an abdominal bruit, diminished or absent femoral pulses, and a difference between the arterial pressure of the upper and lower limbs. Angiography is the technique of choice, although noninvasive MR angiography and CT angiography have similar diagnostic accuracy. Ultrasonography is the primary screening technique. Medical treatment consists of a combination of different antihypertensives. Surgical treatment can be curative.

  19. Ellis-van Creveld syndrome: a case report.

    PubMed

    Shah, B; Ashok, L; Sujatha, G P

    2008-01-01

    Ellis-van Creveld syndrome (EvC) is a disease complex, where all the three embryonic layers appear to be involved. This disorder is also called as Chondroectodermal dysplasia. EvC is an autosomal recessive disorder resulting from mutations in these patients. Mutations in the two genes EVC and EVC2, have been identified to cause the condition. It has been considered as a skeletal dysplasia with an incidence of approximately 1 out of 1,50,000 live births. A high prevalence has been reported among certain populations like Amish and Arabs of Gaza strip. There are more than 300 cases of EvC reported into the literature. About 50-60% of cases have been reported with congenital cardiac malformations. PMID:18974540

  20. Ellis-van Creveld syndrome: a case report.

    PubMed

    Shah, B; Ashok, L; Sujatha, G P

    2008-01-01

    Ellis-van Creveld syndrome (EvC) is a disease complex, where all the three embryonic layers appear to be involved. This disorder is also called as Chondroectodermal dysplasia. EvC is an autosomal recessive disorder resulting from mutations in these patients. Mutations in the two genes EVC and EVC2, have been identified to cause the condition. It has been considered as a skeletal dysplasia with an incidence of approximately 1 out of 1,50,000 live births. A high prevalence has been reported among certain populations like Amish and Arabs of Gaza strip. There are more than 300 cases of EvC reported into the literature. About 50-60% of cases have been reported with congenital cardiac malformations.

  1. Chediak-Higashi Syndrome: A Case Series from Karnataka, India.

    PubMed

    Rudramurthy, Pradeep; Lokanatha, Hemalata

    2015-01-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granulecontaining cells. The abnormal granules are readily seen in blood and marrow granulocytes. Other clinical features include silvery hair, photophobia, nystagmus and hepatosplenomegaly. However, the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors are diagnostic of CHS. Here, we present a series of five cases, out of which four presented in the accelerated phase. In all the five cases, the giant granules were noted predominantly in the cytoplasm of lymphocytes, which is a rare occurrence compared to those present in the granulocytes. PMID:26538743

  2. Hypereosinophilic syndrome in cats: a report of three cases.

    PubMed

    McEwen, S A; Valli, V E; Hulland, T J

    1985-07-01

    The clinical, clinicopathological and pathological findings in three cats with hypereosinophilic syndrome are described. The cats chosen for the study had marked eosinophilia and evidence of tissue infiltration by eosinophils. Necropsies were performed on two cats, biopsy and blood samples were provided for the third cat. At necropsy, there was diffuse reddening of femoral bone marrow with ulceration and thickening of the duodenum. The livers had an enhanced lobular pattern with multiple, white, 1-3 mm nodules throughout the parenchyma. One cat had splenomegaly and the other had several enlarged, white, firm lymph nodes. Histopathologically, there was eosinophil infiltration of intestine, lymph nodes, liver, spleen, adrenal medulla and beneath the endocardium. Ultrastructurally, the eosinophils from lymph node and bone marrow of cat II were morphologically normal. The rigid criteria for eosinophilic leukemia were not fulfilled by these cases and the etiology of the eosinophilia in each case is not known. Possible pathogenic mechanisms are discussed. PMID:4041970

  3. Ehlers-Danlos Syndrome Type IV: A Case Report.

    PubMed

    Soo-Hoo, Sarah; Porten, Brandon R; Engstrom, Bjorn I; Skeik, Nedaa

    2016-04-01

    Ehlers-Danlos syndrome (EDS) encompasses a group of rare genetic connective tissue disorders. The vascular type (type IV) poses the most serious risk to patients. Diagnosis is usually difficult, especially if patients lack a family history. Life-threatening vascular emergency such as dissection or rupture can be the first presenting symptom. Management of the disease can pose a clinical challenge due to the emergency of presentation, tissue friability, and lack of clear management recommendations. We report a unique case of a 40-year-old man who presented with a ruptured celiac artery and a strong family history of EDS. This case highlights the difficulties and complications associated with treating this uncommon and serious disease. PMID:26975607

  4. Paracetamol induced Steven-Johnson syndrome: A rare case report

    PubMed Central

    Rajput, Rajan; Sagari, Shitalkumar; Durgavanshi, Astha; Kanwar, Alpana

    2015-01-01

    In the contemporary era, use of drugs is the dominant paradigm of health care. The most quotidian drug used for fever and pain is paracetamol. Although adverse reactions to paracetamol in India are rare, at times they can cause life-threatening situations. Stevens-Johnson syndrome (SJS) is one such potentially lethal adverse drug reaction. The most reported cases of analgesic-induced SJS were due to oxicams or propionic acid derivatives. There are very few detailed reports of SJS due to the use of paracetamol. We report a case of SJS, which occurred due to the use of paracetamol. The clinical features of this condition and multidisciplinary management of the patient are described in brief. PMID:26604588

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

    PubMed

    Giconi, Stephanie S

    2013-02-01

    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.

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

    PubMed

    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

    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.

  7. [Netherton's syndrome. Current aspects. Apropos of 9 cases].

    PubMed

    Plantin, P; Delaire, P; Guillet, M H; Labouche, F; Guillet, G

    1991-01-01

    Data concerning 9 cases of Netherton's syndrome (NS) have been collected from 6 French dermatology units (table I). Analysis of these data has confirmed the information previously published, notably the prevalence of congenital ichthyosis erythroderma (CIE) as cutaneous manifestation in the neonatal period (77 p. 100), hair shaft dysplasia being rarely found at that stage (11 p. 100). In the majority of cases (5/9 in our series), CIE evolves in adults as ichthyosis linearis circumflexia (ILC), with trichorrhexis invaginata (TI) as the predominant hair shaft dysplasia. These data are in agreement with the diagnostic elements laid down by Dupré and Traupe. Some points may have been underestimated in the past. They include: hypernatraemic dehydration in the neonate; short stature and low weight (unrelated to endocrine disorders; mental and neurological retardation possibly associated with seizures. Various manifestations of hypersensitivity have been noted in 26 p. 100 of the published cases and in 6 of our 9 patients. The aggravating role played by hypersensitivity may be considered in some cases. NS must be regarded as a broad-spectrum disease the margins of which could be isolated skin manifestations in ILC and ichthyosis erythroderma with various associated disorders in cases with severe illness.

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

    PubMed

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

    2014-02-01

    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.

  9. Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

    PubMed Central

    Moncla, A; Livet, M O; Auger, M; Mattei, J F; Mattei, M G; Giraud, F

    1991-01-01

    Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands. All three cases were ascertained over a six month period by two neuropaediatricians aware of this specific anomaly, which suggests that this microdeletion is not particularly rare. Comparison of the clinical and cytogenetic findings in a total of 24 patients allows a new contiguous gene syndrome to be defined that only high resolution analysis can detect. In two cases, molecular analysis confirmed the cytogenetic results. The Charcot-Marie-Tooth type Ia gene has recently been localised to the 17p11.2 sub-band. Images PMID:1956064

  10. Construction of a YAC contig in the region of three retinal degeneration genes in 11q13

    SciTech Connect

    Gerhard, J.; Wang, J.

    1994-09-01

    We have previously isolated a large number of bacteriophage clones specific for human chromosome 11. Seventy-two clones map to distal 11q13, a region haboring a number of human disease genes. Among them are genes for Best macular degeneration (BMD), Usher`s syndrome type 1B, autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) and a form of Bardet-Biedl syndrome; all diseases involve retinal degenerations. From the genetic mapping it is clear the BMD and Bardet-Biedl syndrome are located in the proximal portion of the band, while Usher`s syndrome 1B and ADNIV are in the distal portion of 11q13. As the first step towards the cloning of the latter two disease genes, we set out to isolate this region of the chromosome as yeast artificial chromosomes (YACs). The 72 clones, as well as two transcribed genes, were assigned into 4 segregation groups with radiation-reduced somatic cell hybrids. We have shown previously that this high probe density can result in the development of large YAC contigs. We chose to use two complementing strategies to screen three different YAC libraries. The two strategies are: (1) the generation of Alu-primed products from the bacteriophage clones that are then used as probes against filters from individual YAC library pools; (2) the sequencing of the bacteriophage clones, STS development and screening YAC libraries by the method of Green and Olson (1990). The former has the advantage of speed, while the latter of specificity. We have identified a total of 140 YACs from 50 screens. Approximately 50% of the markers are already in small contigs. The largest contig has 10 markers and is {approximately}1 mbp. This approach results in fairly rapid development of YAC contigs without additional application of labor-intensive, locus-specific manipulation. We expect to complete the contig within a year.

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

    PubMed

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

    2012-01-01

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

  12. Systemic lupus erythematosusmyositis overlap syndrome: report of 6 cases

    PubMed Central

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

    2011-01-01

    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

  13. Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM ∗246200)

    PubMed Central

    Nijim, Yousif; Awni, Youssef; Adawi, Amin; Bowirrat, Abdalla

    2016-01-01

    Abstract Donohue syndrome ([DS]; leprechaunism) describes a genetic autosomal recessive disorder that results from the presence of homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3–p13.2). Donohue syndrome is associated with a fatal congenital form of dwarfism with features of intrauterine and postnatal growth retardation, exaggerated hyperglycemia with hyperinsulinism and dysmorphic abnormalities. We present a case of DS owing to the rarity of this syndrome (1 case in every million births). We discuss how the disease presents, its genetic underpinning, and its prevention. The case was encountered in an Arab male born on 1 September, 2014, for consanguineous parents. The delivery was via cesarean section at 37 weeks gestation due to severe intrauterine growth restriction and nonprogress labor term. The patient was admitted to the Neonatal Intensive Care Unit due to infection, and jaundice. Dysmorphic features, abnormalities of the craniofacial region, low birth weight, skin abnormalities, abdominal distension and hypertrichosis were observed. Laboratory examinations showed, hyperinsulinism, increased C-peptide, thrombocytopenia, leucopenia, and anemia. The diagnosis of DS was done based on the combinations of typical dysmorphic characteristics, clinical evaluation, supported by genetic analysis and exaggerated biochemical results. Genetic diagnosis of DS was performed through analysis of DNA via polymerase chain reaction (PCR). A qualitative real-time PCR was used, to monitor the amplification of a targeted DNA molecule during the PCR. Other technique using sequencing of the INSR gene, which permits genetic diagnosis, counseling, and antenatal diagnoses in subsequent pregnancies, were also performed. Treatment of DS is supportive and requires the combined efforts of a multidisciplinary team, which include pediatricians, endocrinologists, dermatologists, and other health care professionals. Currently, treatment with

  14. [Acute respiratory distress syndrome caused by tropical eosinophilic lung disease: a case in Gabon].

    PubMed

    Chani, M; Iken, M; Eljahiri, Y; Nzenze, J R; Mion, G

    2011-04-01

    The purpose of this report is to describe the case of a 28-year-old woman in whom acute respiratory distress syndrome (ARDS) following cholecystectomy led to the discovery of eosinophilic lung disease. Outcome was favorable after oxygenotherapy and medical treatment using ivermectin and corticosteroids. The case shows that hypereosinophilic syndrome can be the underlying cause of ARDS. PMID:21695880

  15. Plummer-Vinson syndrome complicated by gastric cancer: a case report.

    PubMed

    Nagai, T; Susami, E; Ebihara, T

    1990-06-01

    Plummer-Vinson syndrome has been brought to attention as a precancerous lesion of hypopharyngeal and cervical lesions of the esophagus, but that involving the stomach is uncommon. We report a case of Plummer-Vinson syndrome with gastric cancer. A brief literature review of this disorder is presented, and possible causes in this unusual case are discussed.

  16. Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review.

    PubMed

    Nambiar, Soumya; Ramasubramanian, Srikanth; Swaminathan, Meenakshi

    2015-01-01

    We report a rare case of Brown's syndrome associated with ocular albinism in a 10-year-old boy. This report highlights the importance of further analysis of cases of Brown's syndrome and throws some light on the etiology and association of this rare condition. PMID:26622141

  17. [Congenital cardiopathy in a patient with Sotos syndrome. Description of a case].

    PubMed

    Di Marco, G; Levantesi, G; Parisi, G; Chiarelli, A

    1989-05-01

    The number of cases of Sotos syndrome or cerebral gigantism described in the literature total more than 200. For 6 of these, cardiac malformations were described. The authors report a case of Sotos syndrome in which malformative alterations of the aortic and mitral valves were simultaneously present. PMID:2670658

  18. Christ Siemens Touraine syndrome: Two case reports and felicitous approaches to prosthetic management

    PubMed Central

    Renahan, Navanith; Raj, Renju; Varma, R. Balagopal; Kumar, J Suresh

    2015-01-01

    Ectodermal dysplasia is a heterogeneous group of inherited disorders, which exhibit a classic triad of hypohydrosis, hypotrichosis, and hypodontia. Hypohidrotic or anhidrotic ectodermal dysplasia or Christ Siemens Touraine syndrome is the most common condition among ectodermal dysplasia patients. This is a case report on two Christ Siemens Touraine syndrome cases and two different approaches to prosthetic management. PMID:26097372

  19. Perforated duodenal ulcer associated with ovarian hyperstimulation syndrome: Case Report.

    PubMed

    Uhler, M L; Budinger, G R; Gabram, S G; Zinaman, M J

    2001-01-01

    Ovarian hyperstimulation syndrome (OHSS) remains the most serious medical complication of controlled ovarian stimulation. An unusual case of perforated duodenal ulcer following critical OHSS is presented. A 29 year old nulligravid woman with polycystic ovarian syndrome underwent her first attempt at in-vitro fertilization. She was admitted to the hospital with critical OHSS and subsequently found to have a perforated posterior duodenal ulcer. She underwent exploratory laparotomy, antrectomy and gastrojejunostomy. Pathological analysis of her gastric antrum confirmed chronic gastritis and Helicobacter pylori. She required prolonged assisted ventilation, vasopressor support, multiple i.v. antibiotics, blood product replacement and nutritional support. The patient was hospitalized for a total of 47 days and then transferred to a rehabilitation facility for an additional 30 days before being discharged to home. In this critically ill patient with OHSS, severe stress associated with invasive monitoring and multiple medical therapies in the intensive care unit as well as H. pylori infection appear to be the most probable causative factors of her perforated viscus. Prompt recognition of potential complications and proper medical intervention are essential in the management of patients with OHSS. Avoidance strategies are still needed.

  20. A Case of Congenital Adrenal Hyperplasia Mimicking Cushing's Syndrome

    PubMed Central

    Kim, Hye Jeong; Kang, Mira; Kim, Jae Hyeon; Kim, Sun Wook; Chung, Jae Hoon; Min, Yong-Ki; Lee, Moon-Kyu; Kim, Kwang-Won

    2012-01-01

    Congenital adrenal hyperplasia (CAH) is characterized by decreased adrenal hormone production due to enzymatic defects and subsequent rise of adrenocorticotrophic hormone that stimulates the adrenal cortex to become hyperplastic, and sometimes tumorous. As the pathophysiology is basically a defect in the biosynthesis of cortisol, one may not consider CAH in patients with hypercortisolism. We report a case of a 41-yr-old man with a 4 cm-sized left adrenal tumorous lesion mimicking Cushing's syndrome who was diagnosed with CAH. He had central obesity and acanthosis nigricans involving the axillae together with elevated 24-hr urine cortisol level, supporting the diagnosis of Cushing's syndrome. However, the 24-hr urine cortisol was suppressed by 95% with the low dose dexamethasone suppression test. CAH was suspected based on the history of precocious puberty, short stature and a profound suppression of cortisol production by dexamethasone. CAH was confirmed by a remarkably increased level of serum 17-hydroxyprogesterone level. Gene mutation analysis revealed a compound heterozygote mutation of CYP21A2 (I173N and R357W). PMID:23166432

  1. Fat Embolism Syndrome After Femur Fracture Fixation: a Case Report

    PubMed Central

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

    2014-01-01

    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

  2. Median and anterior interosseous nerve entrapment syndromes versus carpal tunnel syndrome: a study of two cases

    PubMed Central

    Tchoryk, Jerry

    2000-01-01

    Two patients presented with forearm and hand pain, and were initially examined by their medical doctors. The first case was diagnosed as a possible neuralgia due to congenital cervical spinal fusion. The second case had a radiographic study taken of the elbow and hand, which was negative and therefore no conclusive diagnosis or treatment was given. This article will discuss the anatomical path of the median and anterior interosseous nerves in the forearm, the possible areas of neural entrapment or irritation and the resulting symptoms and signs as compared to carpal tunnel syndrome. The patient’s presenting symptoms were found to be the most significant detail when differentiating the type of neurological entrapment. In both cases, the patients presented with a gradual progression of anterior forearm pain, numbness or discomfort that radiated to the hand and fingers. To find the cause of this repetitive type of irritation, the functional movement patterns of the upper extremity kinetic chain was assessed including the cervicothoracic and scapulothoracic regions. Provocative tests were used to confirm the site of irritation. The first case showed pronator quadratus weakness. The second patient’s symptoms were reproduced with resisted elbow flexion and pronation while digital pressure was applied to the median nerve. Acute care was directed at the specific area of irritation/inflammation with electrotherapeusis. The treatment also consisted of spinal and joint manipulation, proprioceptive neuromuscular facilitation techniques, strengthening and endurance rehabilitation exercises aimed at restoring the proper kinematics of the upper extremity

  3. Three clinical cases of the DiGeorge syndrome manifested with the biliary system disease.

    PubMed

    Tabutsadze, T; Pachkoria, Kh; Atuashvili, G

    2007-11-01

    DiGeorge syndrome is a rare congenital disease that affects the baby's immune system. Its symptoms vary greatly between individuals but commonly include a history of recurrent infection, heart defects, and characteristic facial features. Few cases of DiGeorge syndrome have been reported in adults. The article describes rare (three cases of DiGeorge syndrome) in adults (18, 32 and 34 years old patients) in Georgia (Caucasus). In clinical practice DiGeorge syndrome may proceed under the course of gastroenterologic, endocrine, nervous and surgical symptoms. 3 cases of DiGeorge syndrome are reported in the article. The authors describe DiGeroge syndrome as a multidisciplinary disorder; it is masqueraded by acute surgical diseases; with sharp immunodeficiency and endocrine, cardiologic and neurologic semiotics.

  4. A Case of Fisher-Bickerstaff Syndrome Overlapped by Guillain-Barré Syndrome

    PubMed Central

    Fujii, Daiki; Manabe, Yasuhiro; Takahasi, Yosiaki; Narai, Hisashi; Omori, Nobuhiko; Kusunoki, Susumu; Abe, Koji

    2012-01-01

    We report a 72-year-old woman with overlapping Miller Fisher syndrome (MFS), Guillain-Barré syndrome (GBS) and Bickerstaff's brainstem encephalitis (BBE). She developed diplopia and unsteady gait a week after an upper respiratory infection on day 1. She had weakness of both upper limbs on day 3 and became drowsy, and her respiratory status worsened on day 5. Neurologic examination revealed ophthalmoplegia, ataxia, symmetrical weakness, areflexia, and consciousness disturbance. We diagnosed her with MFS on day 1, GBS on day 3 and overlapping BBE on day 5. She underwent immunoadsorption therapy and two courses of intravenous immunoglobulin therapy. Ten months after onset, her symptoms had fully recovered. Anti-GM1 IgG, GD1a IgG, GQ1b IgG, and GT1a IgG antibodies were positive. Our case supports the notion that MFS, GBS, and BBE are all part of a continuous clinical spectrum, which is an antibody-mediated process. PMID:23275783

  5. Intramuscular Hemangioma Mimicking Myofascial Pain Syndrome : A Case Report

    PubMed Central

    Hwang, Miriam; Kang, Yoon Kyoo; Kim, In Jong; Park, Yoon Kun

    2007-01-01

    Intramuscular hemangioma, an infrequent but important cause of musculoskeletal pain, is often difficult to establish the diagnosis clinically. This report describes a case of a 32-yr-old woman who presented with severe left calf pain for 10 yr. Initial conservative treatments consisting of intramuscular electrical stimulation, herb medication, acupuncture, and intramuscular lidocaine injection under the diagnosis of myofascial pain syndrome in other facilities, failed to alleviate the symptoms. On physical examination, there was no motor weakness or sensory change. Conventional radiography of the leg revealed a soft tissue phlebolith. Conventional angiography study showed hemangioma. Intramuscular hemangioma within the soleus muscle was confirmed by magnetic resonance imaging. Following surgical excision of the hemangioma, the patient's symptom resolved completely. Intramuscular hemangioma is a rare cause of calf pain and should be considered in the differential diagnosis if a patient with muscle pain, particularly if associated with a soft tissue mass, fails to respond to conservative treatment. PMID:17596677

  6. A case of Ramsay Hunt syndrome diagnosed after kidney transplantation

    PubMed Central

    Park, Yoo Min; Kim, Da Rae; Park, Ji Yoon; Kim, Seul Ki; Kim, Se Yun; Kim, Jin Sug; Lee, Yu Ho; Kim, Yang-Gyun; Jeong, Kyung-Hwan; Moon, Ju-Young; Lee, Sang-Ho; Ihm, Chun-Gyoo; Lee, Tae-Won

    2015-01-01

    We report the first case of Ramsay Hunt syndrome (RHS) diagnosed after kidney transplantation in Korea. RHS is a disease caused by latent varicella-zoster characterized to involve geniculate ganglion of the seventh cranial nerve. Patients who have undergone kidney transplantation can be easily affected by viral infections because of their immune-compromised status. A 35-year-old man with hypertensive end-stage renal disease underwent kidney transplantation. Two months after surgery, the recipient was diagnosed with RHS and treated with antivirals and steroids. However, after using the antiviral agents for the recommended duration, facial paralysis occurred as a new presentation and he required further treatment. Otalgia and periauricular vesicles improved, but the facial palsy remained. PMID:26779429

  7. Subdeltoid lipoma causing shoulder impingement syndrome – a case report

    PubMed Central

    Lenza, Mario; Lenza, Miguel Vicente; Carrerra, Eduardo da Frota; Ferretti, Mario

    2014-01-01

    The impingement syndrome is defined by the compression of the rotator cuff tendons against the coracoacromial arch. Several factors contribute to this condition and they are classified as structural or functional factors. The former are changes in the coracoacromial arch, proximal humerus, bursa and rotator cuff, and the latter are related to the mechanism of the upper limb by means of synchronized activity and balanced between the rotator cuff and scapular girdle muscles. The authors report here a case of parosteal lipoma of the proximal humerus, located between the muscles deltoid, teres minor and infraspinatus causing clinical signs of impingement. It is a rare occurrence, characterized as a structural cause for the onset of this symptom. PMID:25167335

  8. Susac's syndrome during pregnancy - the first Croatian case.

    PubMed

    Antulov, Ronald; Holjar Erlic, Izidora; Perkovic, Olivio; Miletic, Damir; Antoncic, Igor

    2014-06-15

    Susac's syndrome (SS) is an infrequent neurological disorder characterized by the clinical triad of encephalopathy, branch retinal artery occlusion and hearing loss due to an autoimmune endotheliopathy associated with anti-endothelial cell antibodies. At the onset of the disease SS rarely appears with the complete clinical triad. The most important diagnostic procedures involved in the diagnosis of SS are brain MRI, audiometric testing and retinal fluorescein angiography. Presence of at least two components of the SS clinical triad accompanied by specific brain MRI findings is highly suggestive of SS. We report a case of a young pregnant woman with a history of encephalopathy, hearing loss and walking impairment. Brain MRI revealed a spectrum of findings previously described in patients with SS. We induced labor at 37 weeks' gestation to start with immunosuppressive treatment and avoid possible fetal toxicity. To the best of our knowledge this is the first report of SS in Croatia. PMID:24768309

  9. A case of Gilbert's syndrome combined with macroamylasemia.

    PubMed

    Inoue, H; Adachi, Y; Yamashita, M; Nanno, T; Katoh, H; Enomoto, M; Suwa, M; Yamamoto, T

    1989-06-01

    A 30-year-old Japanese male, who had no remarkable family history, visited our hospital with a complaint of abdominal pain, and unconjugated hyperbilirubinemia and hyperamylasemia were observed. He showed negative hemolysis tests, positive nicotinic acid test, low hepatic bilirubin UDP-glucuronyltransferase activity, decreased bilirubin diglucuronide and increased bilirubin monoglucuronide in bile, and a decrease in serum bilirubin after phenobarbital administration. He also showed high serum amylase level, low urine amylase level, and low amylase-creatinine clearance ratio. Gel filtration of serum with Sephadex G-200 revealed the existence of macroamylase. Countercurrent immunoelectrophoresis proved binding of serum amylase to lambda type IgA. From these results, the case was diagnosed as Gilbert's syndrome combined with macroamylasemia.

  10. Zinsser-Cole-Engman Syndrome: A Rare Case Report

    PubMed Central

    Jampanapalli, Sharada Reddy; Bezawada, Sushma; Birapu, Uday Kumar Chowdary; Radharapu, Vasantha Kumari

    2016-01-01

    Zinsser-Cole-Engmann syndrome also called Dyskeratosis Congenita (DKC) is a rare genodermatosis first described by Zinsser in 1906. Mutations in DKC1 gene is responsible for DKC. It is usually inherited as an X-linked recessive trait, resulting in a striking male predilection. It is characterized by a triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia. Complications include predisposition to malignancy and bone marrow failure. Here, we report a case of DKC in a 9-year-old boy with classic triad of signs. Special investigations like endoscopy, barium swallow and bone-marrow aspiration study confirmed the diagnosis. There is no effective treatment for DKC. Some preventive measures can be adopted and the only long term cure for the haematological abnormalities is allogenic haemopoietic stem cell transplantation. PMID:27504423

  11. An Unusual Case Presentation of the May–Thurner Syndrome

    PubMed Central

    O’Laughlin, Michael C.; Levens, Benjamin J.

    2016-01-01

    Summary: A 56-year-old woman underwent abdominoplasty with no immediate complications. She had no known bleeding history nor any relevant past surgical history. Adequate preventive measures for venous thromboembolism were performed, including sequential compression devices, good hydration, and early ambulation. At 17 days post operation, the patient presented to the emergency room complaining of left leg swelling and sharp, shooting pain radiating down her left leg. Workup in the Emergency Room revealed significant venous thrombosis involving complete occlusion of the major veins of the left leg. There were no indications of cardiopulmonary compromise. Angiography revealed an anatomical variant consistent with May-Thurner Syndrome (MTS). This variant first described in 1957 may present in up to one-quarter of patients, more commonly in young women. This case appears to the first reported of MTS occurring in association with a postoperative complication of abdominoplasty. Diagnosis and management considerations are discussed. PMID:27482484

  12. [A case of acquired immunodeficiency syndrome with ileocecal ulcer].

    PubMed

    Iwasaki, Tetsuyoshi; Saruta, Masayuki; Sawada, Ryoichi; Ide, Daisuke; Arihiro, Seiji; Matsuoka, Mika; Katoh, Tomohiro; Tajiri, Hisao

    2015-10-01

    We report a case of a patient with acquired immunodeficiency syndrome (AIDS) and ileocecal ulcer. A 31-year-old man was admitted with chief complaints of decreased body weight and abdominal pain. Colonoscopy revealed a round punched-out ulcer on the ileocecal valve. Initially, we suspected entero-Behçet's disease and simple ulcer as the cause of the ileocecal ulcer. However, after histologic examination of tissue biopsies obtained during colonoscopy, we diagnosed the patient as having cytomegalovirus (CMV) enteritis. Based on the patient's white blood cell depletion and CMV enteritis, we performed a human immunodeficiency virus (HIV) antibody test. The test was positive, and the diagnosis of AIDS was established. The number of patients with AIDS has been increasing in Japan; thus, we should consider the possibility of CMV enteritis and AIDS in young adult patients affected by ileocecal ulcer with no notable history.

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

    PubMed

    Magen, E; Chikovani, T

    2015-06-01

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

  14. An Unusual Case Presentation of the May-Thurner Syndrome.

    PubMed

    O'Laughlin, Michael C; Levens, Benjamin J; Levens, David J; Ring, David H

    2016-06-01

    A 56-year-old woman underwent abdominoplasty with no immediate complications. She had no known bleeding history nor any relevant past surgical history. Adequate preventive measures for venous thromboembolism were performed, including sequential compression devices, good hydration, and early ambulation. At 17 days post operation, the patient presented to the emergency room complaining of left leg swelling and sharp, shooting pain radiating down her left leg. Workup in the Emergency Room revealed significant venous thrombosis involving complete occlusion of the major veins of the left leg. There were no indications of cardiopulmonary compromise. Angiography revealed an anatomical variant consistent with May-Thurner Syndrome (MTS). This variant first described in 1957 may present in up to one-quarter of patients, more commonly in young women. This case appears to the first reported of MTS occurring in association with a postoperative complication of abdominoplasty. Diagnosis and management considerations are discussed. PMID:27482484

  15. Intramuscular hemangioma mimicking myofascial pain syndrome: a case report.

    PubMed

    Kim, Dong Hwee; Hwang, Miriam; Kang, Yoon Kyoo; Kim, In Jong; Park, Yoon Kun

    2007-06-01

    Intramuscular hemangioma, an infrequent but important cause of musculoskeletal pain, is often difficult to establish the diagnosis clinically. This report describes a case of a 32-yr-old woman who presented with severe left calf pain for 10 yr. Initial conservative treatments consisting of intramuscular electrical stimulation, herb medication, acupuncture, and intramuscular lidocaine injection under the diagnosis of myofascial pain syndrome in other facilities, failed to alleviate the symptoms. On physical examination, there was no motor weakness or sensory change. Conventional radiography of the leg revealed a soft tissue phlebolith. Conventional angiography study showed hemangioma. Intramuscular hemangioma within the soleus muscle was confirmed by magnetic resonance imaging. Following surgical excision of the hemangioma, the patient's symptom resolved completely. Intramuscular hemangioma is a rare cause of calf pain and should be considered in the differential diagnosis if a patient with muscle pain, particularly if associated with a soft tissue mass, fails to respond to conservative treatment. PMID:17596677

  16. A case of pervasive refusal syndrome: a diagnostic conundrum.

    PubMed

    McNicholas, Fiona; Prior, Cara; Bates, Gordon

    2013-01-01

    A case is presented of an 11-year-old girl with pervasive refusal syndrome (PRS) who ultimately recovered acutely and completely after an 18-month paediatric hospitalisation. There was an apparent absence of previously proposed important aetiological factors in PRS, such as family pathology and markedly traumatic or abusive experiences, and her recovery was sudden and complete. The authors consider the differential diagnoses of PRS paying particular attention to the possibility of a conversion disorder or catatonia, given the absence of PRS in the North American literature. Consideration of catatonia is important as it has a diagnostic test and responds rapidly to appropriate treatment, in contrast to conventional treatment for PRS and conversion disorder. PMID:22815320

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

    PubMed Central

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

    2012-01-01

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

  18. Trichuris dysentery syndrome: Do we learn enough from case studies?

    PubMed

    Zeehaida, M; Zueter, A; Zairi, N Z; Zunulhisham, S

    2015-09-01

    Trichuris Dysentery Syndrome (TDS) is a severe persistent trichuriasis associated with heavy worm build-up in the colon that continues to be neglected and underestimated in endemic countries. Trichuriasis is most prevalent in children in tropical countries, and that increases the risk of TDS. We reported a series of four preschool children of both genders chronically having TDS over a period ranging from several months to years presenting with anaemia. The hemoglobin levels ranged from 4.6 to 9.1 g/dl on first admissions. Despite treatment, the cases were reported to have failure to thrive with persistent anaemia. It was concluded that TDS should be considered in endemic areas among children presenting with chronic bloody diarrhea and anaemia.

  19. A severe case of vascular thoracic outlet syndrome.

    PubMed

    Bucek, R A; Schnürer, G; Ahmadi, A; Maca, T H; Meissl, G; Minar, E

    2000-11-24

    We report a 21-year-old patient who presented at the outpatient department of angiology with incipient necroses in the fingertips of the right hand. Colour-coded duplex sonography and angiography demonstrated occlusion of the right brachial, ulnar and radial arteries, obviously resulting from an embolism from the subclavian artery narrowed by a cervical rib. After partly successful local thrombolysis this accessory rib was resected. We review angiologic signs and neurological symptoms of the thoracic outlet syndrome (TOS) and analyse the current literature regarding diagnostic procedures and treatment. This complicated and severe case of TOS in a young patient ending with paresis of the right arm and partial finger amputation emphasises the importance of early diagnosis of this condition. PMID:11142135

  20. Zinsser-Cole-Engman Syndrome: A Rare Case Report.

    PubMed

    Penmatsa, Chaitanya; Jampanapalli, Sharada Reddy; Bezawada, Sushma; Birapu, Uday Kumar Chowdary; Radharapu, Vasantha Kumari

    2016-06-01

    Zinsser-Cole-Engmann syndrome also called Dyskeratosis Congenita (DKC) is a rare genodermatosis first described by Zinsser in 1906. Mutations in DKC1 gene is responsible for DKC. It is usually inherited as an X-linked recessive trait, resulting in a striking male predilection. It is characterized by a triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia. Complications include predisposition to malignancy and bone marrow failure. Here, we report a case of DKC in a 9-year-old boy with classic triad of signs. Special investigations like endoscopy, barium swallow and bone-marrow aspiration study confirmed the diagnosis. There is no effective treatment for DKC. Some preventive measures can be adopted and the only long term cure for the haematological abnormalities is allogenic haemopoietic stem cell transplantation. PMID:27504423

  1. Tics and Tourette syndrome: clinical evaluation of 44 cases.

    PubMed

    Teive, H A; Germiniani, F M; Della Coletta, M V; Werneck, L C

    2001-09-01

    We evaluated 44 patients with tics and Tourette's syndrome (TS) emphasising the age of onset of symptoms, sex, classification and localization of tics, associated symptoms and signs and comorbidities. Thirty-three patients (75.2%) had TS defined criteria whereas 10 (22.7%) had chronic motor and/or vocal tics. Simple motor tics were found in 43 cases (97.7%), mainly affecting the eyes (43.2%), mouth (43.2%), face (34.1%). Simple vocal tics occurred in 33 (75%). Coprolalia was found in just 6 cases (13.6%) and copropraxia in just 2 (4.5%). Obsessive compulsive disorder and/or symptoms were found in 26 cases (59.1%) and attention deficit in 17 (38.6%). Eighteen patients (40.9%) had other disorders, such as alcoholism, tabagism, drug abuse, affective disorders, anxiety, sleep and learning disorders. The data obtained are similar to those found by other authors. We highlight the low frequency of coprolalia, as well as the associated neuropsychiatric disorders. PMID:11593273

  2. [Two Surgical Cases of Loeys-Dietz Syndrome in Childhood].

    PubMed

    Sugawara, Masaaki; Oguma, Fumiaki; Hirahara, Hiroyuki

    2016-08-01

    Loeys-Dietz syndrome( LDS) is a recently recognized autosomal dominant connective tissue disorder. Mutations in the genes encoding transforming growth factor-beta( TGF-β) receptor 1 and (2 TGFBR1, TGFBR2)have been associated with LDS. We report here 2 cases of LDS in childhood. Case 1 was a 10-year-old man, who had aneurysm of both the pulmonary trunk and the ascending aorta, associated with pulmonary and aortic valve insufficiency. Surgical repair was performed successfully at the age of 17. The aortic valve was replaced with a mechanical valve. The aneurysmal ascending aorta was replaced with a Dacron graft. Pulmonary valvuloplasty and pulmonary arterioplasty was performed. Case 2 was a 3-month-old female infant, who had a patent ductus arteriosus( PDA) and aortic root dilation. A detailed physical examination revealed hypertelorism, bifid uvula, retrognathia, talipes equinovarus, and camptodactyly. Computed tomography and echocardiography demonstrated PDA, Valsalva sinus dilation, and arterial tortuosity. These findings were consistent with the clinical manifestations of LDS. Surgical ligation and clipping of the PDA was performed with good results. A molecular genetic analysis subsequently demonstrated a heterozygous missense mutation of the TGFBR2. Since aortic dissection occurs at smaller aortic diameters, early diagnosis and close monitoring are important for patients with LDS. PMID:27476563

  3. [Rare syndromes in intensive care medicine : Presentation of two cases].

    PubMed

    Gierlinger, A; Siostrzonek, P; Reisinger, J

    2016-06-01

    This article presents two cases of young women with spontaneous life-threatening bleeding events. Both had a history of gastrointestinal rupture or arterial dissection. Based on their medical history and genetic testing, Ehlers-Danlos syndrome (EDS) IV (vascular type) was diagnosed. In this very rare disorder which accounts for only 5 % of all EDS cases, fibroblasts synthesize reduced and abnormal procollagen type III. This is caused by mutations in the COL3A1 gene coding for type III procollagen. Life expectancy in these patients is significantly reduced. In many cases spontaneous arterial ruptures or dissections and organ ruptures are the first manifestations of this disease. More than 80 % of patients with EDS IV suffer from a severe complication before 40 years of age. Treatment options are very limited. Most important is to avoid invasive procedures (open surgery as well as endovascular interventions) because of its high morbidity and mortality. Celiprolol, a cardioselective β‑blocker, seems to have a beneficial effect by reducing the incidence of vascular complications. PMID:27259332

  4. Naturalistic Intervention for Asperger Syndrome: A Case Study

    ERIC Educational Resources Information Center

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

    2008-01-01

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

  5. Dancing with Down Syndrome: A Phenomenological Case Study

    ERIC Educational Resources Information Center

    Reinders, Nicole; Bryden, Pamela J.; Fletcher, Paula C.

    2015-01-01

    "Dance for individuals with Down syndrome has many benefits; however, there is little research on this topic." Down syndrome is the most common "genetic condition," resulting in psychological, physical, and social impairments. There is research to suggest that dance may be a beneficial activity for people with Down syndrome;…

  6. A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review

    PubMed Central

    Shetty, Prashanth; Shetty, Deepthi; Priyadarshana, P.S.; Bhat, Smitha

    2015-01-01

    Ellis Van Creveld syndrome (EVC) is a rare genetic disorder having autosomal recessive inheritance affecting the Amish population of Pennsylvania in USA with incidence of 1:244,000 for the general population. This syndrome consists of characteristic features such as bilateral postaxial polydactyly, chondroectodermal dysplasia, congenital heart defects and hypoplastic nails and teeth. There are few case reports of this syndrome reported in dental literature. We report a case of a 17 year old female presenting typical features of this syndrome and the oral findings of this patient which are the key diagnostic features. PMID:26258022

  7. A case of plummer-vinson syndrome associated with Crohn's disease.

    PubMed

    Park, Joon Mo; Kim, Kyeong Ok; Park, Chan Seo; Jang, Byung Ik

    2014-04-01

    Plummer-Vinson syndrome manifests as cervical dysphagia, iron deficiency anemia, an upper esophageal web, and atrophic glossitis. The cause of the esophageal web is thought to be iron deficiency anemia; however, the cause of Plummer-Vinson syndrome has not been established. Crohn's disease is usually accompanied by malnutrition and iron deficiency anemia; however, no case of concomitant Crohn's disease and Plummer-Vinson syndrome with aggravated malnutrition and anemia has been previously reported. Here, we report on a rare case of Plummer-Vinson syndrome in a Crohn's disease patient, which caused malnutrition and constipation.

  8. Two cases of acute atraumatic compartment syndrome complicated with severe heat stroke.

    PubMed

    Ikegami, Yukihiro; Hasegawa, Arifumi; Tsukada, Yasuhiko; Abe, Yoshinobu; Shimada, Jiro; Tase, Choichiro

    2010-12-01

    Acute compartment syndrome is a life-threatening complication in trauma patients. Not only regional neuromuscular disability, but also systemic organ disorders can result from prolonged tissue ischemia. In this report, we describe 2 cases of acute atraumatic compartment syndrome complicated with severe heat stroke. In both cases, emergency fasciotomy was rapidly performed after recognition of the syndrome, but serious regional neuromuscular disabilities remained. Microvascular endothelial injury is an important mechanism of acute atraumatic compartment syndrome. Thrombi diffusely formed in the compartmental space hinder establishment of reperfusion even after fasciotomy. Furthermore, disruption of fibrinolysis due to heat stroke could enhance this damage.

  9. Oculofaciocardiodental syndrome: a rare case and review of the literature.

    PubMed

    Davoody, Amirparviz; Chen, I-Ping; Nanda, Ravindra; Uribe, Flavio; Reichenberger, Ernst J

    2012-09-01

    Oculofaciocardiodental syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems. The clinical diagnosis of oculofaciocardiodental syndrome can be challenging due to a wide variety of symptoms. Oculofaciocardiodental syndrome is found only in females due to its X-linked inheritance pattern and embryonic lethality for males. Radiculomegaly of canines is the most consistent finding in these patients. In this report we present a female patient with characteristic facial features, as well as a comprehensive overview of oculofaciocardiodental syndrome. Diagnosis of oculofaciocardiodental syndrome in this patient was verified by genetic analysis, during which we found a novel mutation in BCOR. PMID:21740180

  10. Loss of the BBSome perturbs endocytic trafficking and disrupts virulence of Trypanosoma brucei.

    PubMed

    Langousis, Gerasimos; Shimogawa, Michelle M; Saada, Edwin A; Vashisht, Ajay A; Spreafico, Roberto; Nager, Andrew R; Barshop, William D; Nachury, Maxence V; Wohlschlegel, James A; Hill, Kent L

    2016-01-19

    Cilia (eukaryotic flagella) are present in diverse eukaryotic lineages and have essential motility and sensory functions. The cilium's capacity to sense and transduce extracellular signals depends on dynamic trafficking of ciliary membrane proteins. This trafficking is often mediated by the Bardet-Biedl Syndrome complex (BBSome), a protein complex for which the precise subcellular distribution and mechanisms of action are unclear. In humans, BBSome defects perturb ciliary membrane protein distribution and manifest clinically as Bardet-Biedl Syndrome. Cilia are also important in several parasites that cause tremendous human suffering worldwide, yet biology of the parasite BBSome remains largely unexplored. We examined BBSome functions in Trypanosoma brucei, a flagellated protozoan parasite that causes African sleeping sickness in humans. We report that T. brucei BBS proteins assemble into a BBSome that interacts with clathrin and is localized to membranes of the flagellar pocket and adjacent cytoplasmic vesicles. Using BBS gene knockouts and a mouse infection model, we show the T. brucei BBSome is dispensable for flagellar assembly, motility, bulk endocytosis, and cell viability but required for parasite virulence. Quantitative proteomics reveal alterations in the parasite surface proteome of BBSome mutants, suggesting that virulence defects are caused by failure to maintain fidelity of the host-parasite interface. Interestingly, among proteins altered are those with ubiquitination-dependent localization, and we find that the BBSome interacts with ubiquitin. Collectively, our data indicate that the BBSome facilitates endocytic sorting of select membrane proteins at the base of the cilium, illuminating BBSome roles at a critical host-pathogen interface and offering insights into BBSome molecular mechanisms. PMID:26721397

  11. Loss of the BBSome perturbs endocytic trafficking and disrupts virulence of Trypanosoma brucei.

    PubMed

    Langousis, Gerasimos; Shimogawa, Michelle M; Saada, Edwin A; Vashisht, Ajay A; Spreafico, Roberto; Nager, Andrew R; Barshop, William D; Nachury, Maxence V; Wohlschlegel, James A; Hill, Kent L

    2016-01-19

    Cilia (eukaryotic flagella) are present in diverse eukaryotic lineages and have essential motility and sensory functions. The cilium's capacity to sense and transduce extracellular signals depends on dynamic trafficking of ciliary membrane proteins. This trafficking is often mediated by the Bardet-Biedl Syndrome complex (BBSome), a protein complex for which the precise subcellular distribution and mechanisms of action are unclear. In humans, BBSome defects perturb ciliary membrane protein distribution and manifest clinically as Bardet-Biedl Syndrome. Cilia are also important in several parasites that cause tremendous human suffering worldwide, yet biology of the parasite BBSome remains largely unexplored. We examined BBSome functions in Trypanosoma brucei, a flagellated protozoan parasite that causes African sleeping sickness in humans. We report that T. brucei BBS proteins assemble into a BBSome that interacts with clathrin and is localized to membranes of the flagellar pocket and adjacent cytoplasmic vesicles. Using BBS gene knockouts and a mouse infection model, we show the T. brucei BBSome is dispensable for flagellar assembly, motility, bulk endocytosis, and cell viability but required for parasite virulence. Quantitative proteomics reveal alterations in the parasite surface proteome of BBSome mutants, suggesting that virulence defects are caused by failure to maintain fidelity of the host-parasite interface. Interestingly, among proteins altered are those with ubiquitination-dependent localization, and we find that the BBSome interacts with ubiquitin. Collectively, our data indicate that the BBSome facilitates endocytic sorting of select membrane proteins at the base of the cilium, illuminating BBSome roles at a critical host-pathogen interface and offering insights into BBSome molecular mechanisms.

  12. Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review

    PubMed Central

    Gole, Hobia; Chuk, Raymond; Coman, David

    2016-01-01

    Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, which are responsible for Kabuki syndrome 1 and Kabuki syndrome 2, respectively. Hypoglycemia is thought to be a rare manifestation of Kabuki syndrome; however it may be under diagnosed. Herein we describe the case of a 5-year-old girl with Kabuki syndrome 2 in whom persistent hyperinsulinism was diagnosed at 4 years of age. We postulate an epigenetic mechanism for hyperinsulinism where specific loss KDM6A demethylation of the H3K27me3/me2 mark may lead to deregulated pancreatic ß-cell development. PMID:27777708

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

    PubMed

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

    2015-02-01

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

  14. Axillary web syndrome following secondary breast-conserving surgery: a case report

    PubMed Central

    2013-01-01

    Background Axillary web syndrome is a cause of significant morbidity in the early postoperative period after axillary surgery. Case presentation A patient developed axillary web syndrome after secondary breast surgery and recovered in 3 weeks through physical therapy and using Aescuven Forte. Discussion The pathogenesis of axillary web syndrome is not clear. It is reported that axillary surgery is the main cause. The presented case indicates that tissue injury might be an important cause of axillary web syndrome. Though axillary web syndrome is self-limiting, special physical therapy and Aescuven Forte can shorten the natural duration. Conclusion Secondary breast surgery could cause axillary web syndrome. Physical therapy and Aescuven Forte could shorten the duration of the self-limited morbidity. PMID:23327341

  15. [Primary empty sella syndrome. Observations on 71 cases].

    PubMed

    Bianconcini, G; Bragagni, G; Bianconcini, M

    1999-02-01

    Primary empty sella syndrome (ESS) is an anatomo-radiological picture characterized by the presence of an arachnoid herniation filled with liquor that compresses the pituitary against the sellar wall. ESS occurs particularly in obese, hypertensive, cephalgic women, it is often asymptomatic but it may be associated with ophthalmologic, neurologic and sometime non-characterizing endocrine disorders. We report here 71 cases of primary ESS observed and assessed during the last fourteen years. The following endocrinological diagnostic procedures were carried out: hormonal (RIA) basal profile: FT3, FT4, TSH, PRL, ACTH, FSH, LH, 8.00 a.m. and p.m. cortisolemia, Aldo, PRA, DHEA-S, FTe, E2, P, PTH, CT, and calcemia and phosphoremia; provocative tests: TRH, GnRH, insulin hypoglycemia, etc.; inhibition tests: "overnight" and high dose dexamethasone. Clinical, radiological (skull radiographs, CT and/or MRI) and ophthalmologic (fundus, visual fields) assessment were made. We found principally cephalgia (52/71: 73.2%), hypertension (42/71: 59.1%), obesity (47/71: 66.1%). But we found especially mental disorders (57/71: 80.2%), in our knowledge not previously reported in the literature, as anxiety or dysthymic disorders with behavioural disturbances (chiefly oral compulsion). We found endocrinopathies in 36/71 (50.7%), isolated or coexisting in some patients: hyperPRL (14%), hypopituitarism (10.4%), hypogonadism (7%), diabetes insipidus (2.8%), hyperACTH (1.4%), hypoGH (15.4%), pituitary adenomas (8.4%). Several hypothalamic illness show a clinical picture including mental disorders and obesity. The Authors hypothesize that the ESS may be a "new" hypothalamic syndrome (compression/stretching on hypophysis and/or hypophyseal stalk by arachnoidocele; disorder of some hormones and neurotransmitters as leptin, neuropeptide Y, orexins, POMC-derived peptides, etc).

  16. Combination of Klinefelter Syndrome and Acromegaly: A Rare Case Report.

    PubMed

    Fang, Hongjuan; Xu, Jian; Wu, Huanwen; Fan, Hong; Zhong, Liyong

    2016-04-01

    Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in male population, which demonstrates an unusual association with acromegaly. We herein present a rare case involving the confirmation of KS 2 years after surgical treatment for acromegaly.A 27-year-old man presented with an acromegalic appearance. Endocrinological examination revealed a high growth hormone (GH) concentration, low testosterone concentration, and high follicle-stimulating hormone and luteinizing hormone concentration. Brain imaging revealed a 9 × 6 × 7- mm sellar low-density nodule suggestive of a microadenoma. Trans-sphenoidal surgery was undertaken, and immunohistochemistry revealed GH positivity. Two years after surgery, the patient underwent examination for infertility. He presented with diminished pubic hair, and small and firm testes. Hormonal assay revealed hypergonadotrophic hypogonadism on the basis of decreased serum total testosterone (<0.2 ng/mL), and elevated luteinizing hormone (14.71 mIU/mL) and follicle-stimulating hormone (21.8 mIU/mL). A chromosomal karyotype examination showed 47,XXY, confirming the diagnosis of KS. Replacement therapy with oral testosterone undecanoate was begun. Brain imaging showed no delayed enhancement in the saddle region of the pituitary gland, but the concentration of plasma insulin-like growth factor maintained a high level. The patient's GH concentration was not significantly suppressed by the GH glucose suppression test. In this consideration, he was referred for postoperative somatostatin analogue treatment to control GH hypersecretion.The misdiagnosis or delayed diagnosis of KS is mainly because of substantial variations in clinical presentation and insufficient professional awareness of the syndrome itself. As the simultaneous occurrence of KS and acromegaly is rare, and the association between them remains unclear, we suggest that complete pituitary hormonal screening and conventional pituitary MRI should be

  17. Adrenal adenocarcinoma with Kartagener's syndrome: A case report

    PubMed Central

    HU, WANLI; CHENG, LONG; CHENG, BEI; ZHANG, PENG; XIAO, HE; WU, WENBO; WANG, XINGHUAN

    2015-01-01

    The present study reports the case of a 44-year-old woman with an adrenal tumor, complicated by Kartagener's syndrome (KS). The patient was admitted to Zhongnan Hospital (Wuhan, China), and presented with an 8-week history of vertigo and extended history of a recurrent cough, accompanied by sputum and a congested nose. Computed tomography indicated a mass on the right adrenal gland and situs inversus. A right adrenal tumor combined with KS was diagnosed, and resection of the tumor was performed following relief of respiratory symptoms and control of blood pressure. During six months of follow up the patient recovered well from surgery and blood pressure remained stable. This case revealed that patients exhibiting KS may suffer from serious respiratory infections as a result of impaired defense mechanisms against microbes in the airway. Therefore, comprehensive management of infection, safe anesthesia and appropriate surgical procedures for the avoidance of inflammation and trauma are the most significant factors required for the success of the treatment. PMID:26788182

  18. Bilateral phlegmasia dolens associated with Trousseau's syndrome: a case report.

    PubMed

    Hasegawa, Satoshi; Aoyama, Tomoki; Kakinoki, Ryosuke; Toguchida, Junya; Nakamura, Takashi

    2008-06-01

    Phlegmasia dolens is a rare disorder caused by massive venous thrombosis. The clinical condition is subclassified as phlegmasia cerulea dolens (PCD) and phlegmasia alba dolens. The 2 forms differ in the venous area affected and remaining blood flow, causing arterial involvement and resulting in a difference in therapeutic strategy and prognosis. In PCD, the mortality rate is high, and amputation for venous gangrene is needed. Phlegmasia alba dolens is a mild form of PCD; the collateral venous system is intact, and the prognosis is better than for PCD. We experienced a rare case of bilateral phlegmasia dolens associated with Trousseau's syndrome. The patient was diagnosed with phlegmasia alba dolens because the artery was not occluded. She was treated with anticoagulant therapy, the placement of a vena cava filter, and a rehabilitation program. The bilateral soleus muscles underwent necrosis, and the occurrence of equinus foot disturbed her walking, but careful rehabilitation with stretching, a range of passive motion exercises by a physical therapist, a tilting table, and ergometer training strengthened the muscles and allowed the patient to walk unaided 8 months after onset. Through this case, we hope to learn more about the pathogenesis of phlegmasia dolens and clinical treatment measures.

  19. Leg ulcer in Werner syndrome (adult progeria): a case report.

    PubMed

    Fumo, Giuseppe; Pau, Monica; Patta, Federico; Aste, Nicola; Atzori, Laura

    2013-01-01

    Werner syndrome (WS; MIM#277700) or adult progeria, is a rare disease, associated with mutations of a single gene (RECQL2 or WRN), located on chromosome 8 (8p12). It codes a DNA-helicase, whose defects cause genomic instability. The highest incidences are reported in Japan and Sardinia (Italy). On this major island of the Mediterranean Basin, the WS cases have been observed in the northern areas. The authors describe the apparently first case reported in southern Sardinia, a 51-year-old woman, who was born in and resides in the province of Cagliari. She presented with a 9-year history of an intractable leg ulcer and other characteristic symptoms, including "bird-like" face, high-pitched voice, premature greying, short stature, abdominal obesity in contrast with thin body type, scleroderma-like legs, decreased muscle mass, diabetes, atherosclerosis, and premature menopause. A specialized genetic Institute of Research (IRCCS-IDI, Rome) confirmed the clinical diagnosis. There is no cure or specific treatment and patients must be periodically screened for an increased risk of cardiovascular and cerebrovascular disease and malignancies. Among the many findings, leg ulcers significantly affect the patient's quality of life. This problem may send the patient to the dermatologist, who finally suspects the diagnosis. Poor response to medical treatment may require aggressive repeated surgery, with poor or temporary results.

  20. A case of Madelung's disease accompanied by Klinefelter's syndrome

    PubMed Central

    Ozderya, Aysenur; Aydin Tezcan, Kadriye; Ozturk, Feyza Yener; Altuntas, Yuksel

    2015-01-01

    Summary Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric, encapsulated lipomatosis. The exact cause of the disease is unknown; it may be associated with chronic alcoholism and mutations in mitochondrial DNA (A8344G), but there have been cases without these factors reported in the literature. A 29-year-old man with a 6-year history of diabetes mellitus was admitted to our hospital for poorly regulated diabetes and decreased libido. He was not an alcohol consumer. His family history was unremarkable. Physical examination revealed that he had a eunuchoid body shape. There was a symmetric excess fat accumulation in his submandibular, deltoid, nuchal, suprapubic and inguinal areas. He was diagnosed with Madelung's disease, and imaging studies supported the diagnosis. Hormonal evaluation revealed a hypergonadotropic hypogonadism. Karyotype analysis revealed a 47,XXY mutation. Genetic research showed no mitochondrial DNA mutation. Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease. The present study represents the first reported case of Madelung's disease accompanied by Klinefelter's syndrome. Learning points Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric and encapsulated lipid accumulation.The exact cause of the disease is unknown.Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease. PMID:25945255

  1. A Case of Superior Mesenteric Artery Syndrome in a Healthy Active Duty Marine.

    PubMed

    Thota, Darshan; Portouw, Steven J; Bruner, David I

    2015-10-01

    Superior mesenteric artery (SMA) syndrome is an uncommon disorder that can lead to small bowel obstructions or perforations. Typical populations include young females with anorexia. However, there have been a few reports of healthy males with acute vomiting reported to have SMA syndrome. Our case report highlights an active duty Marine who developed SMA syndrome and the importance of recognizing this disease given the severity in delay of diagnosis in population of young healthy active duty members.

  2. Diagnosis and treatment of Sagliker syndrome: a case series from Iran.

    PubMed

    Mohebi-Nejad, Azin; Gatmiri, Seyed Mansour; Abooturabi, Seyed Mohammad; Hemayati, Roya; Mahdavi-Mazdeh, Mitra

    2014-01-01

    Sagliker syndrome was introduced in 2004 in patients with end-stage renal disease and severe secondary hyperparathyroidism. This syndrome describes maxillary and mandibular deformities, dental abnormalities, benign soft tissue tumors in mouth, and various kinds of skeletal changes including short stature and fingertip abnormalities. There are a few reports from different regions of the world. The aim of this study is to report 5 cases of the Sagliker syndrome from Iran. PMID:24413727

  3. Dental findings in patients with West syndrome: a report of two cases.

    PubMed

    Khatri, Amit; Kalra, Namita; Tyagi, Rishi; Baweja, Mani; Khandelwal, Deepak

    2014-01-01

    West syndrome a rare, severe form of epilepsy occurs in early infancy. It is characterized by a triad consisting of infantile spasms that occurs in clusters, arrest of psychomotor development and hypsarrhythmia on electroencephalogram. We present here two cases of west syndrome where patients required dental care due to the presence of certain dental findings. Preventive measurements such as controlled diet and proper oral hygiene along with professional dental management are recommended in patients with west syndrome to avoid dental problems.

  4. Toxic shock and Down syndromes in a dental patient: a case report and review of the literature.

    PubMed

    Navazesh, M; Mulligan, R; Sobel, S

    1994-01-01

    A literature review of Toxic Shock Syndrome is presented, including epidemiology, etiology, signs, symptoms and management, and its relationship to infection susceptibility in the Down Syndrome patient. A case of a Down Syndrome patient with Toxic Shock Syndrome is described, and the role of odontogenic infection is discussed.

  5. [Neuropsychiatric symptoms in Sotos syndrome. Case report and review of the literature].

    PubMed

    Kessler, Holger; Kraft, Susanne

    2008-01-01

    Sotos syndrome, or cerebral gigantism, is a rare genetic syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial gestalt and learning difficulties. It is caused by mutations or deletions of the NSD-1 gene. Most cases are sporadic. Apart from a number of physical abnormalities that are commonly present, a high prevalence of cognitive, emotional and behavioural problems in children with Sotos syndrome can be assumed. However, there has been almost no literature about psychiatric symptoms in adults with Sotos syndrome so far; one case of psychosis was reported. In the present case, the authors present psychopathological features of an adult patient with Sotos syndrom who developed - among other things - psychotic symptoms. PMID:18381056

  6. Severe acute hepatitis in the DRESS syndrome: Report of two cases.

    PubMed

    Lens, Sabela; Crespo, Gonzalo; Carrión, Jose A; Miquel, Rosa; Navasa, Miquel

    2010-01-01

    The DRESS (drug rash, eosinophilia and systemic symptoms) syndrome, also known as DIHS (drug-induced hypersensitivity syndrome), is a severe idiosyncratic reaction to several drugs, mainly antiepileptics and antibiotics, which can occasionally produce acute liver failure. In this article we present two cases of the DRESS syndrome presenting with severe acute hepatitis, including the first case of DRESS associated with levetiracetam. Although both cases finally resolved with good outcomes, DRESS can lead to acute liver failure and has a bad prognosis when liver damage is present. Rapid diagnosis is crucial since withdrawal of the offending drug is the key of treatment, while the potential role of corticosteroids is discussed. PMID:20526017

  7. Gradenigo's syndrome: is fusobacterium different? Two cases and review of the literature.

    PubMed

    Heshin-Bekenstein, Merav; Megged, Orli; Peleg, Uri; Shahroor-Karni, Sarit; Bass, Roman; Benifla, Moni; Bar-Meir, Maskit

    2014-01-01

    Gradenigo's syndrome is a rare but life threatening complication of acute otitis media (AOM), which includes a classic triad of otitis media, deep facial pain and ipsilateral abducens nerve paralysis. The incidence of Fusobacterium necrophorum infections has increased in recent years. We describe two cases of Gradenigo's syndrome caused by F. necrophorum. Additional four cases were identified in a review of the literature. Gradenigo's syndrome as well as other neurologic complications should be considered in cases of complicated acute otitis media. F. necrophorum should be empirically treated while awaiting culture results.

  8. Odontogenic Keratocysts in Gorlin–Goltz Syndrome: A Case Report

    PubMed Central

    Chandran, Satheesh; Marudhamuthu, Karthikeyan; Riaz, R; Balasubramaniam, Saravanan

    2015-01-01

    Gorlin–Goltz syndrome is an autosomal dominant inherited condition comprising the principle triad of basal cell carcinomas, multiple jaw keratocysts, and skeletal anomalies. The presence of jaw cysts are the early diagnostic feature of this syndrome, and this can be incidentally identified by routine radiographs. A patient presented with signs and symptoms of Gorlin–Goltz syndrome to us in her early stages. PMID:26225111

  9. Exertional compartment syndrome in covert mild hemophilia. A case report.

    PubMed

    Tountas, C P; Ferris, F O; Cobb, S W

    1992-07-01

    A 37-year-old white male experienced unexpected postoperative bleeding after fasciotomy and decompression for left pronator and compartment syndromes of the forearm. He was subsequently diagnosed with a mild form of hemophilia A. One year later, surgery was required for right pronator and compartment syndromes. Pre- and postoperative cryoprecipitate infusions controlled bleeding following the second operation until the patient discontinued his infusions, resulting in a wound hematoma. Covert mild hemophilia is implicated in the pathogenesis of his compartment syndromes.

  10. Harbinger of plague: a bad case of gay bowel syndrome.

    PubMed

    Scarce, M

    1997-01-01

    In 1976, a group of physicians in private proctologic practice in New York City coined the illness "Gay Bowel Syndrome" in reference to a constellation of gay male anorectal disorders. Through analysis of biomedical discourse and popular media, it is apparent that Gay Bowel Syndrome is an essentialized category of difference that is neither gay-specific, confined to the bowel, nor a syndrome. The use and diagnosis of Gay Bowel Syndrome must be abandoned before it further lends itself to the formation of social policies and governing practices that seek to force gay male bodies into positions of social, cultural, and political subordination.

  11. Gorlin-Goltz syndrome: a rare case report

    PubMed Central

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

    2013-01-01

    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

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

    PubMed

    Şakar, Olcay; Aren, Gamze; Mumcu, Zeynep; Ünalan, Fatma; Aksakallı, Nihan; Tolgay, Ceren Güney

    2015-04-01

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

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

    PubMed

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

    2013-03-01

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

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

    PubMed

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

    2015-01-01

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

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

    ERIC Educational Resources Information Center

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

    1999-01-01

    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)

  16. Grammatical Constructions in Cri du Chat Syndrome--Findings from a Case Study

    ERIC Educational Resources Information Center

    Kristoffersen, Kristian Emil

    2009-01-01

    The literature on grammatical skills in persons with Cri du chat syndrome (CCS) is very limited, and the need for more knowledge in this area is thus evident, in particular for speech and language therapists working with individuals with this syndrome. This case study report describes the syntactic skills of a 14-year-old Norwegian girl with CCS.…

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

    PubMed

    Şakar, Olcay; Aren, Gamze; Mumcu, Zeynep; Ünalan, Fatma; Aksakallı, Nihan; Tolgay, Ceren Güney

    2015-04-01

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

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

    PubMed

    Renju, Raj; Varma, Balagopal R; Kumar, Suresh J; Kumaran, Parvathy

    2014-10-01

    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.

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

    ERIC Educational Resources Information Center

    Andrews, Alice E.; Stonestreet, Ruth H.

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

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

    PubMed

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

    2000-10-01

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

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

    PubMed Central

    2015-01-01

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

  2. Orofacial manifestations of Robinow's syndrome: a case report in a pediatric patient.

    PubMed

    Cerqueira, Daniella Ferraz; de Souza, Ivete Pomarico Ribeiro

    2008-03-01

    Robinow's syndrome (Online Mendelian Inheritance in Man [OMIM] 268310), or fetal facies syndrome, is a rare genetic disorder causing autosomal dominant and recessive forms. This syndrome includes a series of anomalies such as short stature, characteristic facial dysmorphism (fetal facies), genital hypoplasia, and mesomelic brachymelia. The purpose of the present case is to describe the orofacial manifestations of the syndrome in a pediatric patient: craniofacial features, triangular mouth and a long upper lip philtrum, ankyloglossia, a shortened tongue devoid of tongue tip, a geographic tongue, arched palate, gingival hyperplasia, dental abnormalities (misaligned and crowded teeth), and delayed tooth eruption.

  3. Not so silent sinus syndrome: A case report

    PubMed Central

    Ferro, Ashley; Basyuni, Shadi; Santhanam, Vijay

    2016-01-01

    Introduction Silent sinus syndrome (SSS) is a rare disorder with protean manifestations. An absence of familiarity with ambiguous and atypical presentations may complicate diagnosis and delay management. Case presentation A 28 year old female patient presented with a chronic history of headache, post-nasal discharge and recurrent facial pain refractory to analgesics. Enophthalmos and hypoglobus progressed over a period of 2 months, and a diagnosis of SSS was confirmed via imaging. Definitive treatment was withheld given the patient’s postpartum state and improvement of symptoms. Discussion SSS typically manifests with painless and progressive, unilateral, enophthalmos and hypoglobus. Since presentation is dominated by ophthalmologic complaints, the ordinary route by which SSS is diagnosed is through ophthalmology review. The predominant complaint in our patient was chronic headaches with facial pain, and mild enophthalmos and hypoglobus were only noted 2 months later at follow-up. This represents an atypical presentation of SSS, and exemplifies the subtle and often ambiguous presenting features of this disorder. Conclusion The protean manifestations of SSS mean that patients may initially present to specialities other than ophthalmology. To ensure rapid diagnosis and appropriate management, it is important that clinicians, particularly in ophthalmology, maxillofacial surgery, and ears, nose and throat (ENT), are familiar with this obscure condition. PMID:27078866

  4. [The nocturnal eating syndrome (2 case reports and polysomnography)].

    PubMed

    Sonka, K; Spacková, N; Marusic, P

    1993-08-01

    The nocturnal eating syndrome (NES) is a nocturnal sleep disorder caused by repeated awakening and the inability to fall a sleep again unless the patient ingests some food or drinks something. In children the NES is frequent, in adults rather rare and may be associated with various pathological conditions. The latter include in particular somnabulism, periodic movements of the lower extremities, narcolepsy, chronic triazolam intoxication, probably anorexia nervosa, and other eating disorders. The authors submit two case-histories of middle aged women (30 and 37 years old) without disturbances of the day-time eating behaviour, without obvious psychopathology where the symptomatology of NES developed slowly from the age of 14 and 25 years resp. Both patients ate at night small amounts of easily consumed foods which they went to fetch in the kitchen as often as five times per night. Their behaviour was calm and aimed. Usually they did not remember the nocturnal eating. Polysomnographic examination in both patients revealed poor sleep with frequent changes of the sleep stages, with frequent awakenings, in both patients incl. even awakening from deep NREM sleep. The authors conclude that in these two patients NES with somnabulism is involved.

  5. A case of hypereosinophilic syndrome presenting with intractable gastric ulcers

    PubMed Central

    Park, Tae Young; Choi, Chang Hwan; Yang, Suh Yoon; Oh, In Soo; Song, In-Do; Lee, Hyun Woong; Kim, Hyung Joon; Do, Jae Hyuk; Chang, Sae Kyung; Cho, Ah Ra; Cha, Young Joo

    2009-01-01

    We report a rare case of hypereosinophilic syndrome (HES) presenting with intractable gastric ulcers. A 71-year-old man was admitted with epigastric pain. Initial endoscopic findings revealed multiple, active gastric ulcers in the gastric antrum. He underwent Helicobacter pylori (H pylori) eradication therapy followed by proton pump inhibitor (PPI) therapy. However, follow-up endoscopy at 4, 6, 10 and 14 mo revealed persistent multiple gastric ulcers without significant improvement. The proportion of his eosinophil count increased to 43% (total count: 7903/mm3). Abdominal-pelvic and chest computed tomography scans showed multiple small nodules in the liver and both lungs. The endoscopic biopsy specimen taken from the gastric antrum revealed prominent eosinophilic infiltration, and the liver biopsy specimen also showed eosinophilic infiltration in the portal tract and sinusoid. A bone marrow biopsy disclosed eosinophilic hyperplasia as well as increased cellularity of 70%. The patient was finally diagnosed with HES involving the stomach, liver, lung, and bone marrow. When gastric ulcers do not improve despite H pylori eradication and prolonged PPI therapy, infiltrative gastric disorders such as HES should be considered. PMID:20027690

  6. [A Case of Serrated Polyposis Syndrome with Early Colon Cancer].

    PubMed

    Suzuki, Okihide; Chika, Noriyasu; Tachikawa, Tetsuhiko; Aoyagi, Nobuhiko; Eguchi, Hidetaka; Kumamoto, Kensuke; Mochiki, Erito; Miura, Ichiro; Yao, Takashi; Ishida, Hideyuki

    2015-11-01

    The patient was a 65-year-old man without any noteworthy medical history. A colonoscopy conducted after a positive fecal occult blood test revealed approximately 100 polyps in the large intestine. A biopsy of some these polyps revealed serrated and hyperplastic polyps, which were histologically determined to be well-differentiated adenocarcinoma. Based on these findings, a diagnosis of serrated polyposis syndrome (SPS) was made, and the patient underwent laparoscopic pancolectomy/ileoproctostomy. Histopathological analysis revealed a total of 91 lesions, out of which 15 were ≥10 mm. A 30 mm lesion in the ascending colon was a well-differentiated adenocarcinoma, stage Ⅰ colon cancer (T1a [sm], ly0, v0, N0, and M0). No germline mutations were found on genetic testing of the adenomatous polyposis coli (APC), mutY homolog (MUTYH), mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MSH6), and postmeiotic segregation increased 2 (PMS2) genes. No loss of MLH1 protein expression or expression of mutated B-Raf (BRAF) V600E protein was observed in the cancer regions after immunostaining. This case is important because not only is the condition rare but also because it showed that the serrated pathway may not necessarily be the mechanism by which serrated lesions become cancerous in patients with SPS.

  7. Neurofeedback training for tourette syndrome: an uncontrolled single case study.

    PubMed

    Messerotti Benvenuti, Simone; Buodo, Giulia; Leone, Valentino; Palomba, Daniela

    2011-12-01

    Gilles de la Tourette syndrome (TS) is characterized by motor and vocal tic manifestations, often accompanied by behavioral, cognitive and affective dysfunctions. Electroencephalography of patients with TS has revealed reduced Sensorimotor Rhythm (SMR) and excessive fronto-central Theta activity, that presumably underlie motor and cognitive disturbances in TS. Some evidence exists that neurofeedback (NFB) training aimed at enhancing SMR amplitude is effective for reducing tics. The present report is an uncontrolled single case study where a NFB training protocol, involving combined SMR uptraining/Theta downtraining was delivered to a 17-year-old male with TS. After sixteen SMR-Theta sessions, six additional sessions were administered with SMR uptraining alone. SMR increase was better obtained when SMR uptraining was administered alone, whereas Theta decrease was observed after both trainings. The patient showed a reduction of tics and affective symptoms, and improvement of cognitive performance after both trainings. Overall, these findings suggest that Theta decrease might account for some clinical effects seen in conjunction with SMR uptraining. Future studies should clarify the feasibility of NFB protocols for patients with TS beyond SMR uptraining alone. PMID:21915704

  8. [A case of myokymia-hyperhidrosis syndrome with muscle involvement].

    PubMed

    Ono, S; Tomono, H; Maeda, Y; Shimizu, N; Shimizu, N

    1989-01-01

    The present report deals with an unique case of myokymia-hyperhidrosis syndrome. A 46-year-old man developed generalized relatively slow, undulating movement of the muscles, excessive sweating, muscle cramps and easy fatigability since three years ago. On admission, he had generalized myokymia, abnormal movements consisting of slow, undulating and worm-like muscular contractions. There was no muscle atrophy or weakness, or sensory deficits. Deep tendon reflexes were diminished and no Babinski sign or other pathological reflexes were present. Muscle tone was in normal range. Neither fasciculation nor myotonia was found. Laboratory examinations revealed elevation of BMR with normal thyroid function. The value of anti-Ach receptor antibody was below 0.6nmol/l. EMG recordings showed (1) continuous spontaneous repetitive discharges of NMU at a frequency of 30-50Hz, with duration of 1-2 seconds and amplitude of about 1 mV, were demonstrated at rest and the findings were consistent with myokymia, (2) waxing phenomenon was observed on repetitive peripheral nerve stimuli, which didn't improve by the tension test, and (3) high amplitude, long duration and polyphasic NMU, a sign of denervation, were observed on voluntary contraction. Muscle biopsy specimens from the left quadriceps showed a number of internal nuclei. On electron microscopy, clustered mitochondria and filamentous bodies were very often found in subsarcolemma. From these observations, damage to peripheral nerves, neuromuscular junctions and muscles may be responsible for the generalized myokymia in our patient. PMID:2743686

  9. An indolent case of severe acute respiratory syndrome.

    PubMed

    Lam, Man-Fai; Ooi, Gaik C; Lam, Bing; Ho, James C; Seto, Wing H; Ho, Pak L; Wong, Poon C; Liang, Raymond; Lam, Wah K; Tsang, Kenneth W

    2004-01-01

    Severe acute respiratory syndrome (SARS) is a highly contagious and typically rapidly progressive form of atypical pneumonia, which spread from Asia to many parts of the world in early 2003. Clinical diagnosis of SARS requires the presence of unremitting fever and progressive pneumonia despite antibiotic therapy, particularly in the presence of lymphopenia and raised transaminase levels. We report the case of a woman who had undergone a successful allogeneic bone marrow transplant for acute myeloid leukemia. She presented initially with fever and a normal chest radiograph. Her indolent clinical course of SARS was punctuated by resolution of fever, but there was progressive radiologic deterioration and increasing serum antibody titer against SARS coronavirus. Treatment with oral prednisolone and ribavirin normalized her lymphopenia, altered transaminases, chest radiograph and high-resolution computed tomography appearances rapidly. Our experience should alert other clinicians in recognizing this atypical indolent presentation of SARS, to protect health care workers and the community at large and to ensure that these patients are properly treated.

  10. Ultrasound features of lacrimal gland in Sjogren's syndrome: case report.

    PubMed

    Seceleanu, Andreea; Pop, Sorin; Preda, Dan; Szabo, Ioan; Rogojan, Liliana; Seceleanu, Radu

    2012-12-01

    A case is presented of bilateral lacrimal gland hypertrophy with secondary glaucoma due to the increased episcleralvenous pressure. Diagnostic work-up included clinical methods associated with ultrasound (A- and B-scan, Doppler ultrasound) and magnetic resonance imaging techniques. Clinical data revealed proptosis, episcleral congestion, and elevated intraocular pressure. Abnormal Schirmer's test and xerophthalmia were also present. Ultrasound examination identified enlarged masses of a cystic structure in lacrimal fossae bilaterally, superotemporally to the globe, more pronounced on the left side. Doppler ultrasound revealed vascularization and magnetic resonance imaging completed the findings offered by ultrasound methods. Based on the clinical aspect and the possible visual impairment due to secondary glaucoma, the mass lesion on the left side was removed by neurosurgical approach. Histopathology confirmed destruction of the lacrimal gland and immunohistochemistry indicated Sjogren's syndrome lesions. Sonography is able to provide noninvasively much of the information needed by the clinician. The A-scan and B-scan ultrasound techniques and color Doppler allow tracking and discrimination of orbital diseases, such as lacrimal gland lesions. Associated with clinical features, these methods provide the basis of correct diagnosis and appropriate therapy for lacrimal gland pathology.

  11. Plummer-Vinson syndrome. A case report and literature review.

    PubMed

    Hoffman, R M; Jaffe, P E

    1995-10-01

    The Plummer-Vinson syndrome is characterized by dysphagia, iron-deficiency anemia, and esophageal webs. The webs are best diagnosed by cineradiography. Iron repletion often improves the dysphagia, although some patients require esophageal dilatation or bougienage. The syndrome is associated with an increased incidence of postcricoid carcinoma, and surveillance endoscopy is recommended.

  12. Plummer-Vinson syndrome: a report of three cases.

    PubMed

    Yukselen, V; Karaoglu, A O; Yasa, M H

    2003-09-01

    Plummer-Vinson syndrome is characterised by dysphagia, anaemia, glossitis and oesophageal web. We report our findings in three patients with membranes in the upper oesophagus. All patients underwent endoscopic dilatation and iron replacement therapy, with good results. We review the literature of this syndrome.

  13. Child maltreatment syndrome: demographics and developmental issues of inpatient cases

    PubMed Central

    Ngiam, Xin Ying; Kang, Ying Qi; Aishworiya, Ramkumar; Kiing, Jennifer; Law, Evelyn Chung Ning

    2015-01-01

    INTRODUCTION This study aimed to describe the demographic, social, developmental and behavioural profile of children hospitalised for alleged child maltreatment syndrome (CMS). METHODS This study was a retrospective review of the consecutive inpatient records of children (0–16 years) admitted to the National University Hospital, Singapore, for alleged CMS over a three-year period. Descriptive data on the demographic characteristics, alleged maltreatment, medical and developmental histories, and family background of these children were collected and analysed. Chi-square statistics were used to test whether family factors were associated with the type of maltreatment and the presence of developmental disorders. RESULTS A total of 89 children, who accounted for 90 admission cases, were studied. Physical abuse (70.0%) was the most common, followed by neglect (11.1%) and sexual abuse (7.8%). Child protection services had already been involved in 29.2% of the cases prior to the child’s admission. Children who were victims of abuse were more likely to come from homes with a prior history of domestic violence (p = 0.028). Financial difficulty was found to be a risk factor for neglect (p = 0.005). Among the 89 children, 15.7% were found to have developmental disorders and 10.1% had mental health diagnoses. Children who had developmental disorders were more likely to have a parent with a mental health disorder (p = 0.002). CONCLUSION A sizeable proportion of the children admitted for alleged CMS had developmental or behavioural disorders. Clinicians have a role in ensuring that these children have appropriate follow-up plans. Children from high-risk families should be screened for maltreatment. PMID:26668405

  14. Cerebral salt-wasting syndrome due to hemorrhagic brain infarction: a case report

    PubMed Central

    2014-01-01

    Introduction Cerebral salt-wasting syndrome is a condition featuring hyponatremia and dehydration caused by head injury, operation on the brain, subarachnoid hemorrhage, brain tumor and so on. However, there are a few reports of cerebral salt-wasting syndrome caused by cerebral infarction. We describe a patient with cerebral infarction who developed cerebral salt-wasting syndrome in the course of hemorrhagic transformation. Case presentation A 79-year-old Japanese woman with hypertension and arrhythmia was admitted to our hospital for mild consciousness disturbance, conjugate deviation to right, left unilateral spatial neglect and left hemiparesis. Magnetic resonance imaging revealed a broad ischemic change in right middle cerebral arterial territory. She was diagnosed as cardiogenic cerebral embolism because atrial fibrillation was detected on electrocardiogram on admission. She showed hyponatremia accompanied by polyuria complicated at the same time with the development of hemorrhagic transformation on day 14 after admission. Based on her hypovolemic hyponatremia, she was evaluated as not having syndrome of inappropriate secretion of antidiuretic hormone but cerebral salt-wasting syndrome. She fortunately recovered with proper fluid replacement and electrolyte management. Conclusions This is a rare case of cerebral infarction and cerebral salt-wasting syndrome in the course of hemorrhagic transformation. It may be difficult to distinguish cerebral salt-wasting syndrome from syndrome of inappropriate antidiuretic hormone, however, an accurate assessment is needed to reveal the diagnosis of cerebral salt-wasting syndrome because the recommended fluid management is opposite in the two conditions. PMID:25055823

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

    PubMed Central

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

    2014-01-01

    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

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

    PubMed

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

    2014-07-01

    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.

  17. Palmoplantar hyperkeratosis with short stature, facial dysmorphism, and hypodontia--a new syndrome?: case report.

    PubMed

    Seow, W K

    1989-06-01

    In this study, a possible new syndrome affecting 18 members of a family spanning 4 generations is described. The main features include palmoplantar hyperkeratosis, proportionate short stature, facial dysmorphism, clinodactyly, epilepsy, deafness, and hypodontia. This syndrome is inherited in an autosomal dominant manner with a high degree of penetrance but variable expressivity. This syndrome differs markedly from the autosomal recessive types of palmoplantar hyperkeratosis such as Papillon-Lefèvre syndrome which shows premature loss of both dentitions. It is also distinct from other previously described cases of autosomal dominant forms of palmoplantar hyperkeratosis such as the Unna-Thost syndrome in that it presents short stature, facial dysmorphism, and hypodontia. These features which previously have not been associated with palmoplantar hyperkeratosis suggest that this may be a new syndrome.

  18. Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study

    PubMed Central

    McClure, Philip; Booy, David; Katarincic, Julia; Eberson, Craig

    2016-01-01

    Background. Mobius Syndrome is a rare disease defined by bilateral congenital 7th nerve palsy. We focus on reporting the prevalence of orthopedic disease in this population. Methods. Twenty-three individuals with Mobius Syndrome underwent orthopedic physical examination, and additional 96 patients filled out a survey for self-reported orthopedic diagnoses. Results. Clubfoot was present in 60% of individuals in the physical exam series and 42% of those in the survey. Scoliosis was present in 26% and 28%, respectively. Poland's Syndrome was present in 17% and 30%. In addition to these findings, 27% of patients reported having difficulty with anesthesia, including difficulty in intubation and airway problems. Conclusion. An increased prevalence of scoliosis, clubfoot, transverse limb deficiencies, and Poland's Syndrome is identified in the setting of Mobius Syndrome. In the setting of several deformities often requiring surgical correction, a high incidence of anesthetic difficulty is noted and should be discussed with patients and other providers during surgical planning. PMID:26977161

  19. Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study.

    PubMed

    McClure, Philip; Booy, David; Katarincic, Julia; Eberson, Craig

    2016-01-01

    Background. Mobius Syndrome is a rare disease defined by bilateral congenital 7th nerve palsy. We focus on reporting the prevalence of orthopedic disease in this population. Methods. Twenty-three individuals with Mobius Syndrome underwent orthopedic physical examination, and additional 96 patients filled out a survey for self-reported orthopedic diagnoses. Results. Clubfoot was present in 60% of individuals in the physical exam series and 42% of those in the survey. Scoliosis was present in 26% and 28%, respectively. Poland's Syndrome was present in 17% and 30%. In addition to these findings, 27% of patients reported having difficulty with anesthesia, including difficulty in intubation and airway problems. Conclusion. An increased prevalence of scoliosis, clubfoot, transverse limb deficiencies, and Poland's Syndrome is identified in the setting of Mobius Syndrome. In the setting of several deformities often requiring surgical correction, a high incidence of anesthetic difficulty is noted and should be discussed with patients and other providers during surgical planning. PMID:26977161

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

    PubMed

    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

    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.

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

    ERIC Educational Resources Information Center

    Collins, Edith; Turner, Gillian

    1973-01-01

    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)

  2. Refractory Case of Paroxysmal Autonomic Instability With Dystonia Syndrome Secondary to Hypoxia.

    PubMed

    Kern, John; Bodek, Daniel; Niazi, Osama Tariq; Maher, James

    2016-02-01

    Paroxysmal autonomic instability with dystonia (PAID) is a syndrome commonly related to traumatic brain injury (TBI) and rarely to anoxia associated with symptoms of dystonia, tachycardia, tachypnea, and diaphoresis. This is a case of a 20-year-old man who was stabbed in the heart. He underwent surgical repair of a ventricular septal defect and mitral valve replacement. Postoperatively, he developed dystonia with tachycardia and tachypnea consistent with PAID syndrome, secondary to prolonged hypoxia. Traditionally, this poorly understood syndrome is treated with morphine, clonazepam, and nonselective β-blockers. Second-line medications commonly used are baclofen, dantrolene, and gabapentin, which are aimed at the dystonia itself. In this case, both first- and second-line agents were ineffective. A 72-hour dexmedetomidine infusion resulted in complete resolution of symptoms. This is the first case of anoxia-induced PAID syndrome to be effectively treated with dexmedetomidine, which was previously used in a case induced by TBI. PMID:26867852

  3. Omohyoid Muscle Syndrome in a Mixed Martial Arts Athlete: A Case Report.

    PubMed

    Lee, Alexander D; Yu, Alexander; Young, Shayne B; Battaglia, Patrick J; Ho, C John

    2015-01-01

    Omohyoid muscle syndrome is a rare cause of an X-shaped bulging lateral neck mass that occurs on swallowing. This is a diagnostic case report of a 22-year-old mixed martial arts athlete who acquired this condition.

  4. Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report

    PubMed Central

    Bhesania, Dhvani; Kapoor, Sonali

    2015-01-01

    Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management. PMID:26389061

  5. Stimulant medication and postural orthostatic tachycardia syndrome: a tale of two cases.

    PubMed

    Cheshire, William P

    2016-06-01

    Stimulant medication may mimic the tachycardia of postural orthostatic tachycardia syndrome. Two case histories illustrate how missing the clinical distinction between a primary dysautonomia and a medication effect may have avoidable adverse consequences.

  6. [Carpal tunnel syndrome in acromegaly--4-case report and review of literature].

    PubMed

    Imamura, H; Isu, T; Iwasaki, Y; Sugimoto, S; Abe, H; Tashiro, K

    1989-09-01

    Four cases of carpal tunnel syndrome in acromegaly were reported. These 4 cases were found in 21 acromegalies (19%). Besides change of features, they complained bilateral sensory disturbances of their hands. After transsphenoidal removal of pituitary adenoma, GH levels returned to the normal range and sensory disturbances were improved in all cases. Mechanism of carpal tunnel syndrome in acromegaly is that edematous synovial tissues compress the median nerve because oversecretion of growth hormone causes increase of sodium and water retention in the extracellular fluid. The patient who showes high basal level of growth hormone and/or acromegalic pattern by various tolerance tests does not always have the carpal tunnel syndrome. But this syndrome is apt to be found in active acromegaly. So the detection of the symptom showed by this activity such as hypersudation in our cases leads to the early diagnosis of acromegaly.

  7. Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report.

    PubMed

    Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali

    2015-09-01

    Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.

  8. Hereditary onchyo-osteo-dysplasia (HOOD syndrome): Report of two cases

    SciTech Connect

    Garces, M.A.; Muraskas, J.K.; Muraskas, E.K.; Abdel-Hameed, M.F.

    1982-03-01

    HOOD syndrome is relatively uncommon. Two cases are presented, and the radiographic findings are discussed. Because of the diversification in clinical and symptomatic manifestations, radiologic findings are often the major criteria in establishing the diagnosis.

  9. Scalene Myofascial Pain Syndrome Mimicking Cervical Disc Prolapse: A Report of Two Cases

    PubMed Central

    Abd Jalil, Nizar; Awang, Mohammad Saufi; Omar, Mahamarowi

    2010-01-01

    Scalene myofascial pain syndrome is a regional pain syndrome wherein pain originates over the neck area and radiates down to the arm. This condition may present as primary or secondary to underlying cervical pathology. Although scalene myofascial pain syndrome is a well known medical entity, it is often misdiagnosed as being some other neck pain associated with radiculopathy, such as cervical disc prolapse, cervical spinal stenosis and thoracic outlet syndrome. Because scalene myofascial pain syndrome mimics cervical radiculopathy, this condition often leads to mismanagement, which can, in turn, result in persistent pain and suffering. In the worst-case scenarios, patients may be subjected to unjustifiable surgical intervention. Because the clinical findings in scalene myofascial pain syndrome are “pathognomonic”, clinicians should be aware of ways to recognize this disorder and be able to differentiate it from other conditions that present with neck pain and rediculopathy. We present two cases of unilateral scalene myofascial pain syndrome that significantly impaired the patients’ functioning and quality of life. This case report serves to create awareness about the existence of the syndrome and to highlight the potential morbidity due to clinical misdiagnosis. PMID:22135529

  10. Scalene myofascial pain syndrome mimicking cervical disc prolapse: a report of two cases.

    PubMed

    Abd Jalil, Nizar; Awang, Mohammad Saufi; Omar, Mahamarowi

    2010-01-01

    Scalene myofascial pain syndrome is a regional pain syndrome wherein pain originates over the neck area and radiates down to the arm. This condition may present as primary or secondary to underlying cervical pathology. Although scalene myofascial pain syndrome is a well known medical entity, it is often misdiagnosed as being some other neck pain associated with radiculopathy, such as cervical disc prolapse, cervical spinal stenosis and thoracic outlet syndrome. Because scalene myofascial pain syndrome mimics cervical radiculopathy, this condition often leads to mismanagement, which can, in turn, result in persistent pain and suffering. In the worst-case scenarios, patients may be subjected to unjustifiable surgical intervention. Because the clinical findings in scalene myofascial pain syndrome are "pathognomonic", clinicians should be aware of ways to recognize this disorder and be able to differentiate it from other conditions that present with neck pain and rediculopathy. We present two cases of unilateral scalene myofascial pain syndrome that significantly impaired the patients' functioning and quality of life. This case report serves to create awareness about the existence of the syndrome and to highlight the potential morbidity due to clinical misdiagnosis.

  11. Mouth and Genital Ulcers with Inflamed Cartilage Syndrome: Case Report and Review of the Published Work.

    PubMed

    Kaneko, Yuka; Nakai, Noriaki; Kida, Takashi; Kawahito, Yutaka; Katoh, Norito

    2016-01-01

    Mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome are disease that fulfilled criteria for diagnosis of Behcet's disease (BD) and relapsing polychondritis (RP). We report a 22-year-old Japanese woman presented with MAGIC syndrome and we described the clinicopathological characteristics of MAGIC syndrome based on a review of published cases from July 1985 to December 2015. In our case, the patient with oral aphthae, erythema nodosum, acne-like eruptions, uveitis, and polyarthritis fulfilled criteria for diagnosis of incomplete form of BD. The patient with uveitis, polyarthritis, and histological confirmation of chondritis also fulfilled criteria for diagnosis of RP. The patient was successfully treated with oral colchicine followed by prednisolone. The symptoms of MAGIC syndrome gradually disappeared, and the prednisolone dosage was gradually decreased and stopped. She has been in remission without active medication for a further 8 months. In the previous reports, some authors suggested that MAGIC syndrome was not a disease entity and might be RP occurring secondary to BD, another association of an autoimmune disease, or vasculitis with RP. However, the pathogenic association between MAGIC syndrome, BD, and RP is still unclear, and the number of reported cases of MAGIC syndrome is insufficient to establish a clear explanation. Therefore, further accumulation of data and careful observation of the clinical course are required to improve the understanding of MAGIC syndrome. PMID:27293269

  12. Mouth and Genital Ulcers with Inflamed Cartilage Syndrome: Case Report and Review of the Published Work

    PubMed Central

    Kaneko, Yuka; Nakai, Noriaki; Kida, Takashi; Kawahito, Yutaka; Katoh, Norito

    2016-01-01

    Mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome are disease that fulfilled criteria for diagnosis of Behcet's disease (BD) and relapsing polychondritis (RP). We report a 22-year-old Japanese woman presented with MAGIC syndrome and we described the clinicopathological characteristics of MAGIC syndrome based on a review of published cases from July 1985 to December 2015. In our case, the patient with oral aphthae, erythema nodosum, acne-like eruptions, uveitis, and polyarthritis fulfilled criteria for diagnosis of incomplete form of BD. The patient with uveitis, polyarthritis, and histological confirmation of chondritis also fulfilled criteria for diagnosis of RP. The patient was successfully treated with oral colchicine followed by prednisolone. The symptoms of MAGIC syndrome gradually disappeared, and the prednisolone dosage was gradually decreased and stopped. She has been in remission without active medication for a further 8 months. In the previous reports, some authors suggested that MAGIC syndrome was not a disease entity and might be RP occurring secondary to BD, another association of an autoimmune disease, or vasculitis with RP. However, the pathogenic association between MAGIC syndrome, BD, and RP is still unclear, and the number of reported cases of MAGIC syndrome is insufficient to establish a clear explanation. Therefore, further accumulation of data and careful observation of the clinical course are required to improve the understanding of MAGIC syndrome. PMID:27293269

  13. Mouth and Genital Ulcers with Inflamed Cartilage Syndrome: Case Report and Review of the Published Work.

    PubMed

    Kaneko, Yuka; Nakai, Noriaki; Kida, Takashi; Kawahito, Yutaka; Katoh, Norito

    2016-01-01

    Mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome are disease that fulfilled criteria for diagnosis of Behcet's disease (BD) and relapsing polychondritis (RP). We report a 22-year-old Japanese woman presented with MAGIC syndrome and we described the clinicopathological characteristics of MAGIC syndrome based on a review of published cases from July 1985 to December 2015. In our case, the patient with oral aphthae, erythema nodosum, acne-like eruptions, uveitis, and polyarthritis fulfilled criteria for diagnosis of incomplete form of BD. The patient with uveitis, polyarthritis, and histological confirmation of chondritis also fulfilled criteria for diagnosis of RP. The patient was successfully treated with oral colchicine followed by prednisolone. The symptoms of MAGIC syndrome gradually disappeared, and the prednisolone dosage was gradually decreased and stopped. She has been in remission without active medication for a further 8 months. In the previous reports, some authors suggested that MAGIC syndrome was not a disease entity and might be RP occurring secondary to BD, another association of an autoimmune disease, or vasculitis with RP. However, the pathogenic association between MAGIC syndrome, BD, and RP is still unclear, and the number of reported cases of MAGIC syndrome is insufficient to establish a clear explanation. Therefore, further accumulation of data and careful observation of the clinical course are required to improve the understanding of MAGIC syndrome.

  14. A newborn with very rare von Voss-Cherstvoy syndrome: a case report

    PubMed Central

    Sharma, Deepak; Gupta, Basudev; Shastri, Sweta; Sharma, Pradeep

    2016-01-01

    Introduction von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities. Case presentation We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of kidney, ureter, and bladder. The neonate was suspected to have von Voss-Cherstvoy syndrome on the basis of clinical features, which was further confirmed by fibroblast analysis showing somatic mosaicism for del(13q). Conclusion von Voss-Cherstvoy syndrome is a very rare syndrome that can be suspected on the basis of typical clinical features and confirmed by fibroblast analysis showing somatic mosaicism for del(13q). This adds a second case of this chromosome anomaly described in this syndrome. PMID:27499650

  15. A case of 9p deletion syndrome with Duane retraction syndrome

    PubMed Central

    Sinha, Rahul; Dalal, Shamsher; Raju, Uma; John, Biju M.; Negi, Vandana

    2012-01-01

    The chromosome 9p deletion syndrome is a rare but specific clinical event. The clinical manifestations include dysmorphic facial features (trigonocephaly, midface hypoplasia, upward slanting palpebral fissures, and a long philtrum) and psychomotor retardation. Here we report a child with chromosome 9p deletion with Duane retraction syndrome, which has never been reported in the literature before.

  16. Kohlschütter-Tönz Syndrome – Report of an additional case

    PubMed Central

    González-Arriagada, Wilfredo A.; Carlos-Bregni, Román; Contreras, Elisa; Almeida, Oslei P.

    2013-01-01

    Kohlschütter-Tönz Syndrome is a rare disorder clinically characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration. We present an additional case of this syndrome of a nine year-old boy who was referred by pigmented teeth. The mental deterioration was associated with speech delay, impulsive behavior, attention-deficit/hyperactivity disorder, and learning problems. The physical examination revealed a reduction of lower third, slightly palpebral fissures, low ear and hair implantation, coarse hair and hypertrichosis. The intraoral examination showed alteration in teeth pigmentation diagnosed as amelogenesis imperfecta. Although rare, the present case report illustrates a syndrome that has dental anomalies and systemic alterations. It is important to recognize this syndrome as early as possible and paediatric dentist may contribute to the diagnosis and consequently to better manage the patients. Key words:Kohlschütter-Tönz syndrome, amelogenesis imperfecta, seizures, mental deterioration. PMID:24455057

  17. Bilineal Acute Leukemia Associated With Fanconi Syndrome: The First Case Report

    PubMed Central

    Miri-Aliabad, Ghasem; Sadat-Hosseini, Maryam; Dorgalaleh, Akbar

    2016-01-01

    Fanconi syndrome is a metabolic disorder involving dysfunction of the renal proximal tubules, resulting in excessive urinary excretion of several metabolites. Various factors may lead to Fanconi syndrome, as it may be a genetic disease with primary or secondary etiologies, or may be acquired. In this study, we report a unique case of Fanconi syndrome with development of a relatively rare acute leukemia, a condition that has not been reported before. The case was an 8-year-old boy with familial occurrence of Fanconi syndrome, presenting with pallor, asthenia, recurrent infections, growth failure, and a variety of biochemical and hematological abnormalities. After physical examination, radiographic studies, and comprehensive laboratory analyses, Fanconi syndrome associated with bilineal acute leukemia, of myeloid and T-lymphoid lineages, was diagnosed. PMID:27617066

  18. Bilineal Acute Leukemia Associated With Fanconi Syndrome: The First Case Report.

    PubMed

    Miri-Aliabad, Ghasem; Sadat-Hosseini, Maryam; Dorgalaleh, Akbar

    2016-06-01

    Fanconi syndrome is a metabolic disorder involving dysfunction of the renal proximal tubules, resulting in excessive urinary excretion of several metabolites. Various factors may lead to Fanconi syndrome, as it may be a genetic disease with primary or secondary etiologies, or may be acquired. In this study, we report a unique case of Fanconi syndrome with development of a relatively rare acute leukemia, a condition that has not been reported before. The case was an 8-year-old boy with familial occurrence of Fanconi syndrome, presenting with pallor, asthenia, recurrent infections, growth failure, and a variety of biochemical and hematological abnormalities. After physical examination, radiographic studies, and comprehensive laboratory analyses, Fanconi syndrome associated with bilineal acute leukemia, of myeloid and T-lymphoid lineages, was diagnosed. PMID:27617066

  19. Gluteal compartment syndrome due to prolonged immobilization after alcohol intoxication: a case report.

    PubMed

    Iizuka, Shinichi; Miura, Naoyuki; Fukushima, Tomokazu; Seki, Tomoko; Sugimoto, Katuhiko; Inokuchi, Sadaki

    2011-07-01

    Gluteal compartment syndrome is a relatively rare condition that mostly result from atraumatic causes such as prolonged immobilization due to drug abuse or alcoholic intoxication and incorrect positioning during surgical procedures rather than traumatic causes. Early diagnosis is difficult and sometimes delayed or overlooked because of poor physical signs resulting from altered mental status and inappropriate diagnosis by clinicians. It has been reported that more than half of the cases of gluteal compartment syndrome are associated with crush syndrome and sciatic nerve palsy. Early diagnosis and immediate fasciotomy are necessary to improve the functional prognosis. Here, we report the case of a patient with gluteal compartment syndrome caused by prolonged immobilization after acute alcoholic intoxication. After disease onset, the patient developed complications of crush syndrome and sciatic nerve palsy, but immediate fasciotomy improved his condition.

  20. Brainstem auditory evoked potentials in a case of 'Manto syndrome', or spasmodic torticollis with thoracic outlet syndrome.

    PubMed

    Disertori, B; Ducati, A; Piazza, M; Pavani, M

    1982-12-01

    A case of spasmodic torticollis with thoracic outlet syndrome observed for over 18 months is presented and discussed. Maximal head rotation (determining backward gaze) was associated with compression of the brachial plexus between the scaleni muscles and motor, sensory and trophic troubles in the hand. This new syndrome is called after the diviner Manto, quoted by Dante Alighieri in his 'Divina Commedia' (Inferno, XX, 52-56). The etiology was ascribed to subacute toxic effects of methylparathion. Brainstem Auditory Evoked Potentials (BAEPs) demonstrated severe brainstem involvement, maximal in the mesencephalic structures. Clinical and neurophysiological data improved on treatment with L-5-hydroxytryptophan. Finally, BAEPs returned to normal.