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Sample records for bardet-biedl syndrome case

  1. Laurence Moon Bardet Biedl Syndrome with anaemia.

    PubMed

    Asif, Mariam; Aziz, Tariq; Altaf, Samer; Sattar, Rukhsana Abdul

    2014-01-01

    Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in our hospital. We here report an infrequent case of autosomal recessive disorder with Anaemia. PMID:25672202

  2. [Bardet-Biedl syndrome].

    PubMed

    Rooryck, C; Lacombe, D

    2008-12-01

    Bardet-Biedl syndrome (BBS) is a ciliopathy causing multivisceral abnormalities. Its prevalence in Europe is from 1/125,000 to 1/175,000. This disorder is defined by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appearing after several years of evolution. Individual clinical phenotype is highly variable. Most signs are present in a majority of patients but only pigmentary retinopathy is constant after infancy. There are many other associated minor clinical signs including diabetes, blood hypertension, congenital cardiopathy or Hirschsprung disease. This broad clinical spectrum is associated to a great genetic heterogeneity, with mainly an autosomal recessive transmission and, sometimes cases of oligogenism. To date, mutations in 12 different genes (BBS1 to BBS12) are responsible for this phenotype. These genes code for proteins involved in the development and function of primary cilia. Absent or non functional BBS proteins affect cilia in certain organs such as kidney or eye. However, some symptoms are still not clearly related to cilia dysfunction. BB syndrome has to be recognized because a molecular diagnosis is possible and will lead to familial genetic counseling and possibly prenatal diagnosis. Patients with BBS will need a multidisciplinary medical care. The renal abnormalities are the main life-threatening features because they can lead to end-stage renal failure and renal transplantation. Retinal dystrophy leading to progressive vision loss, moderate mental retardation, and obesity will affect social life of these patients. PMID:19019343

  3. Laurence-Moon-Bardet-Biedl syndrome in combination with Cotard's syndrome. Case report.

    PubMed

    Lerner, V; Bergman, J; Greenberg, D; Bar-El, Y

    1995-01-01

    Laurence-Moon-Bardet-Biedl (LMBB) syndrome is a symptom complex that usually presents with retinitis pigmentosa, poly- or syndactyly, mental retardation, obesity and hypogenitalism. Cotard's syndrome is a state in which the central symptom is a delusion of negation. The case reported here is a combination of these two rare conditions. PMID:8641859

  4. McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family

    PubMed Central

    Chetta, Massimiliano; Bukvic, Nenad; Bafunno, Valeria; Sarno, Michelina; Magaldi, Rosario; Grilli, Gianpaolo; Bertozzi, Vincenzo; Perfetto, Francesco; Margaglione, Maurizio

    2011-01-01

    McKusick-Kaufman syndrome (MKS, OMIM #236700) is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP), and congenital cardiac disease (CHD). The syndrome is caused by mutations in the MKKS gene mapped onto chromosome 20p12 between D20S162 and D20S894 markers. Mutations in the same gene causes Bardet-Biedl-6 syndrome (BBS-6, OMIM #209900) inherited in an autosomal recessive pattern. BBS-6 comprises retinitis pigmentosa, polydactyly, obesity, mental retardation, renal and genital anomalies. HMC, CHD, and PAP defects can also occur in BBS-6, and there is a significant clinical overlap between MKS and BBS-6 in childhood. We describe a new borderline case of MKS and BBS syndrome and suggest insights for understanding correlation between MKKS gene mutations and clinical phenotype. Here, we report the results of molecular analysis of MKKS in a female proband born in an Italian nonconsanguineous healthy family that presents HMC and PAP. The mutational screening revealed the presence of two different heterozygous missense variants (p.242A>S in exon 3, p.339 I>V in exon 4) in the MKKS gene, and a nucleotide variation in 5’UTR region in exon 2 (-417 A>C). PMID:22090721

  5. Autism: a rare presentation of Bardet-Biedl syndrome.

    PubMed

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

    2014-01-01

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

  6. 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

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

    PubMed

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

    2015-06-01

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

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

    PubMed Central

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

    2015-01-01

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

  9. Genetics Home Reference: Bardet-Biedl syndrome

    MedlinePLUS

    ... Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or ... renal ; renal disease ; retina ; stage ; syndactyly ; syndrome ; tissue ; visual acuity You may find definitions for these and ...

  10. Inactivation of Bardet-Biedl syndrome genes causes kidney defects

    PubMed Central

    Guo, Deng-Fu; Beyer, Andreas M.; Yang, Baoli; Nishimura, Darryl Y.; Sheffield, Val C.

    2011-01-01

    Bardet-Biedl syndrome (BBS) is a rare hereditary autosomal recessive disease associated with several features including obesity, hypertension, and renal abnormalities. The underlying mechanisms of renal defects associated with BBS remain poorly defined. We examined the histological, molecular, and functional renal changes in BBS mouse models that have features of the human disorder. Interestingly, obese hypertensive Bbs4?/? mice exhibited inflammatory infiltration and renal cysts, whereas the obese normotensive Bbs2?/? mice had only minor inflammatory infiltration. Accordingly, the expression level of inducible nitric oxide synthase was elevated in the kidney of both BBS mice with a more marked increase in Bbs4?/? mice. In contrast, endothelial nitric oxide synthase expression was decreased in Bbs4?/?, but not Bbs2?/?, mice. Similarly, the expression levels of transient receptor potential vanilloid 1 and 4 channels as well as ?- and ?-subunits of epithelial Na channel were significantly reduced only in the kidney of Bbs4?/? mice. Metabolic studies revealed changes in urine output and urinary concentrations of creatinine, blood urea nitrogen, sodium, and potassium with a more pronounced effect in Bbs4?/? mice. Finally, we found that calorie restriction which prevented obesity in BBS mice reversed the morphological and molecular changes found in Bbs2?/? and Bbs4?/? mice, indicating the kidney abnormalities associated with BBS are obesity related. These findings extend our understanding of the function of BBS proteins and emphasize the importance of these proteins in renal physiology. PMID:21106857

  11. SHORT COMMUNICATION: Hyperphagia among patients with Bardet-Biedl syndrome

    PubMed Central

    Sherafat-Kazemzadeh, Roya; Ivey, Lauren; Kahn, Stephanie R.; Sapp, Julie C.; Hicks, Melanie D.; Kim, Rachel C.; Krause, Amanda J.; Shomaker, Lauren B.; Biesecker, Leslie G.; Han, Joan C.; Yanovski, Jack A.

    2014-01-01

    Summary Background The importance of hyperphagia as a cause for energy imbalance in humans with Bardet-Biedl syndrome (BBS) has not been established. We therefore compared hyperphagic symptoms in patients with BBS versus controls. Methods We studied 13 patients with BBS and 23 nonsyndromic controls with similar age, sex, and BMI z-score. A 13-item hyperphagia questionnaire was completed by patients’ parents/guardians. Results Total hyperphagia questionnaire score was higher in BBS than controls (27.6±9.0 vs. 19.1±7.9, p=0.005). Behavior and drive sub-scales were higher for BBS than controls (12.5±4.1 vs. 7.8±3.2, p=0.001, and 11.2±4.1 vs. 8.3±3.8, p=0.04, respectively); severity was not significantly different between groups (3.8±1.5 vs. 3.0±1.3, p=0.072). After adjustment for demographic variables and BMI-Z score, total and behavior subscale scores remained significantly different between groups, suggesting food-seeking activity, rather than preoccupation with food may be the main hyperphagic feature among patients with BBS. Conclusion Appetite dysregulation may contribute to obesity in BBS. PMID:23776152

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

    PubMed Central

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

    2015-01-01

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

  13. Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

    PubMed Central

    Beales, P L; Warner, A M; Hitman, G A; Thakker, R; Flinter, F A

    1997-01-01

    The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia, and short stature. It is heterogeneous with at least four gene loci (BBS1-4) having been mapped to date. We have studied 18 multiply affected families noting the presence of both major and minor manifestations. Using a fluorescently based PCR technique, we genotyped each family member and assigned linkage to one of the four loci. Given this degree of heterogeneity we hoped to find phenotypic differences between linkage categories. We found 44% of families linked to 11q13 (BBS1) and 17% linked to 16q21 (BBS2). Only one family was linked to 15q22 (BBS4) and none to 3p12. We conclude that BBS1 is the major locus among white Bardet-Biedl patients and that BBS3 is extremely rare. Only subtle phenotypic differences were observed, the most striking of which was a finding of taller affected offspring compared with their parents in the BBS1 category. Affected subjects in the BBS2 and 4 groups were significantly shorter than their parents. Twenty eight percent of pedigrees did not show linkage to any known locus, evidence for at least a fifth gene. We conclude that the different genes responsible for Bardet-Biedl syndrome may influence growth characteristics such as height. Images PMID:9039982

  14. 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).

  15. Impaired Photoreceptor Protein Transport and Synaptic Transmission in a Mouse Model of Bardet-Biedl Syndrome

    PubMed Central

    Abd-El-Barr, Muhammad M.; Sykoudis, Kristen; Andrabi, Sara; Eichers, Erica R.; Pennesi, Mark E.; Tan, Perciliz L.; Wilson, John H.; Katsanis, Nicholas; Lupski, James R.; Wu, Samuel M.

    2009-01-01

    Bardet-Biedl Syndrome (BBS) is an oligogenic syndrome whose manifestations include retinal degeneration, renal abnormalities, obesity and polydactylia. Evidence suggests that the main etiopathophysiology of this syndrome is impaired Intraflagellar Transport (IFT). In this study, we study the Bbs4-null mouse and investigate photoreceptor structure and function after loss of this gene. We find that Bbs4-null mice have defects in the transport of phototransduction proteins from the inner segments to the outer segments, before signs of cell death. Additionally, we show defects in synaptic transmission from the photoreceptors to secondary neurons of the visual system, demonstrating multiple functions for BBS4 in photoreceptors. PMID:18022666

  16. Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.

    PubMed

    Abd-El-Barr, Muhammad M; Sykoudis, Kristen; Andrabi, Sara; Eichers, Erica R; Pennesi, Mark E; Tan, Perciliz L; Wilson, John H; Katsanis, Nicholas; Lupski, James R; Wu, Samuel M

    2007-12-01

    Bardet-Biedl syndrome (BBS) is an oligogenic syndrome whose manifestations include retinal degeneration, renal abnormalities, obesity and polydactylia. Evidence suggests that the main etiopathophysiology of this syndrome is impaired intraflagellar transport (IFT). In this study, we study the Bbs4-null mouse and investigate photoreceptor structure and function after loss of this gene. We find that Bbs4-null mice have defects in the transport of phototransduction proteins from the inner segments to the outer segments, before signs of cell death. Additionally, we show defects in synaptic transmission from the photoreceptors to secondary neurons of the visual system, demonstrating multiple functions for BBS4 in photoreceptors. PMID:18022666

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

    PubMed Central

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

    2005-01-01

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

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

    PubMed

    Knockenhauer, Kevin E; Schwartz, Thomas U

    2015-08-01

    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

  19. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

    PubMed Central

    Scheidecker, Sophie; Etard, Christelle; Pierce, Nathan W; Geoffroy, Véronique; Schaefer, Elise; Muller, Jean; Chennen, Kirsley; Flori, Elisabeth; Pelletier, Valérie; Poch, Olivier; Marion, Vincent; Stoetzel, Corinne; Strähle, Uwe; Nachury, Maxence V; Dollfus, Hélène

    2014-01-01

    Background Bardet-Biedl Syndrome (BBS) is a recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, post-axial polydactyly, behavioral dysfunction and hypogonadism. Seven of the 17 BBS gene products identified to date assemble together with the protein BBIP1/BBIP10 into the BBSome, a protein complex that ferries signaling receptors to and from cilia. Methods and results Exome sequencing performed on a sporadic BBS case revealed for the first time a homozygous stop mutation (NM_001195306: c.173T>G, p.Leu58*) in the BBIP1 gene. This mutation is pathogenic since no BBIP1 protein could be detected in fibroblasts from the patient and BBIP1[Leu58*] is unable to associate with the BBSome subunit BBS4. Conclusions These findings identify BBIP1 as the eighteenth BBS gene (BBS18) and suggest that BBSome assembly may represent a unifying pathomechanism for BBS. PMID:24026985

  20. Molecular basis of the obesity associated with Bardet-Biedl syndrome

    PubMed Central

    Guo, Deng-Fu; Rahmouni, Kamal

    2011-01-01

    Bardet-Biedl Syndrome (BBS) is a rare human hereditary disorder associated with several features including obesity, retinopathy, renal defects, polydactyly, learning disabilities and hypogenitalism. This article discusses the abnormalities accounting for energy imbalance leading to obesity in BBS with emphasis on the recent evidence pointing to aberrations in hypothalamic action of leptin. Indeed, BBS proteins have emerged as important mediators of leptin receptor trafficking, and loss of BBS genes results in leptin resistance that may be due to abnormal leptin receptor handling in a subset of leptin responsive neurons. These recent discoveries hold promise for improved clinical management of BBS patients. The relevance of these findings to non-syndromic common obesity is also discussed. PMID:21514177

  1. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

    PubMed Central

    Marion, Vincent; Stoetzel, Corinne; Schlicht, Dominique; Messaddeq, Nadia; Koch, Michael; Flori, Elisabeth; Danse, Jean Marc; Mandel, Jean-Louis; Dollfus, Hélène

    2009-01-01

    Bardet-Biedl syndrome (BBS) is an inherited ciliopathy generally associated with severe obesity, but the underlying mechanism remains hypothetical and is generally proposed to be of neuroendocrine origin. In this study, we show that while the proliferating preadipocytes or mature adipocytes are nonciliated in culture, a typical primary cilium is present in differentiating preadipocytes. This transient cilium carries receptors for Wnt and Hedgehog pathways, linking this organelle to previously described regulatory pathways of adipogenesis. We also show that the BBS10 and BBS12 proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the glycogen synthase kinase 3 pathway, and induces peroxisome proliferator-activated receptor nuclear accumulation, hence favoring adipogenesis. Moreover, adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for fat accumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS. PMID:19190184

  2. Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

    PubMed Central

    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. PMID:25168386

  3. Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

    PubMed Central

    Seo, Seongjin; Guo, Deng-Fu; Bugge, Kevin; Morgan, Donald A.; Rahmouni, Kamal; Sheffield, Val C.

    2009-01-01

    Obesity is a major public health problem in most developed countries and a major risk factor for diabetes and cardiovascular disease. Emerging evidence indicates that ciliary dysfunction can contribute to human obesity but the underlying molecular and cellular mechanisms are unknown. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous human obesity syndrome associated with ciliary dysfunction. BBS proteins are thought to play a role in cilia function and intracellular protein/vesicle trafficking. Here, we show that BBS proteins are required for leptin receptor (LepR) signaling in the hypothalamus. We found that Bbs2?/?, Bbs4?/? and Bbs6?/? mice are resistant to the action of leptin to reduce body weight and food intake regardless of serum leptin levels and obesity. In addition, activation of hypothalamic STAT3 by leptin is significantly decreased in Bbs2?/?, Bbs4?/? and Bbs6?/? mice. In contrast, downstream melanocortin receptor signaling is unaffected, indicating that LepR signaling is specifically impaired in Bbs2?/?, Bbs4?/? and Bbs6?/? mice. Impaired LepR signaling in BBS mice was associated with decreased Pomc gene expression. Furthermore, we found that BBS1 protein physically interacts with the LepR and that loss of BBS proteins perturbs LepR trafficking. Our data indicate that BBS proteins mediate LepR trafficking and that impaired LepR signaling underlies energy imbalance in BBS. These findings represent a novel mechanism for leptin resistance and obesity. PMID:19150989

  4. 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.

  5. Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

    PubMed Central

    Rahmouni, Kamal; Fath, Melissa A.; Seo, Seongjin; Thedens, Daniel R.; Berry, Christopher J.; Weiss, Robert; Nishimura, Darryl Y.; Sheffield, Val C.

    2008-01-01

    Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterized by many features, including obesity and cardiovascular disease. We previously developed knockout mouse models of 3 BBS genes: BBS2, BBS4, and BBS6. To dissect the mechanisms involved in the metabolic disorders associated with BBS, we assessed the development of obesity in these mouse models and found that BBS-null mice were hyperphagic, had low locomotor activity, and had elevated circulating levels of the hormone leptin. The effect of exogenous leptin on body weight and food intake was attenuated in BBS mice, which suggests that leptin resistance may contribute to hyperleptinemia. In other mouse models of obesity, leptin resistance may be selective rather than systemic; although mice became resistant to leptin’s anorectic effects, the ability to increase renal sympathetic nerve activity (SNA) was preserved. Although all 3 of the BBS mouse models were similarly resistant to leptin, the sensitivity of renal SNA to leptin was maintained in Bbs4–/– and Bbs6–/– mice, but not in Bbs2–/– mice. Consequently, Bbs4–/– and Bbs6–/– mice had higher baseline renal SNA and arterial pressure and a greater reduction in arterial pressure in response to ganglionic blockade. Furthermore, we found that BBS mice had a decreased hypothalamic expression of proopiomelanocortin, which suggests that BBS genes play an important role in maintaining leptin sensitivity in proopiomelanocortin neurons. PMID:18317593

  6. The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan

    PubMed Central

    Ihara, Kenji; Tsuge, Ikuya; Kondo, Shuji; Saida, Ken; Betsui, Hiroyuki; Okubo, Kazuhiro; Sakamoto, Hikaru; Ueno, Shuichi; Ikuno, Yasushi; Ishihara, Ryu; Iwahashi, Hiromi; Ohishi, Mitsuru; Mano, Toshiyuki; Yamashita, Toshihide; Suzuki, Yutaka; Nakamura, Yusaku; Kusunoki, Susumu; Toda, Tatsushi

    2015-01-01

    Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, polydactyly, hypogonadism in males, and renal abnormalities. The causative genes have been identified as BBS1-19. In Western countries, this disease is often reported, but remains undiagnosed in many patients until later in life, while only a few patients with no mutations identified have been reported in Japan. We thus conducted the first nationwide survey of BBS in Japan by sending questionnaires to 2,166 clinical departments with board-certified specialists and found 7 patients with clinically definite BBS. We performed exome analyses combined with analyses of mRNA and protein in these patients. We identified 2 novel mutations in the BBS5 gene (p.R89X and IVS7-27 T>G) in 2 sibling patients. The latter mutation that resided far from the authentic splicing site was associated with skipping of exon 8. We also found 3 previously reported mutations in the BBS2 (p.R413X and p.R480X) and BBS7 (p.C243Y) genes in 2 patients. To our knowledge, a nationwide survey of BBS has not been reported in any other country. In addition, this is the first study to identify genetic alterations in Japanese patients with BBS. Our results indicate that BBS in Japan is genetically heterogeneous and at least partly shares genetic features with BBS in other countries. PMID:26325687

  7. 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

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

    PubMed Central

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

    2014-01-01

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

  9. Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes

    PubMed Central

    Beyer, Andreas M.; Guo, Deng-Fu; Sheffield, Val C.

    2010-01-01

    Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal-recessive disorder associated with several clinical features including obesity, hypertension, and cardiovascular abnormalities. BBS proteins play an important role in the function of cilia, a mechanosensory organelle in endothelial cells, but whether these proteins are directly involved in the regulation of vascular function is unclear. Here, we show that Bbs genes (1–12) are expressed in endothelial and smooth muscle cell lines and tissues enriched in endothelial (lung) and smooth muscle (stomach) cells as well as the aorta. Next, we used aortic rings to examine the vascular function of two BBS mouse models that recapitulate the human phenotype, namely Bbs2?/? (obese and normotensive) and Bbs6?/? (obese and hypertensive) mice. Interestingly, the endothelium-dependent relaxation (induced by ACh) was significantly enhanced in Bbs2?/? but not Bbs6?/? mice. In contrast, the endothelium-independent relaxation (induced by sodium nitroprusside) was unaltered in both BBS mouse models. In addition, the contractile responses to serotonin and endothelin-1 were attenuated in Bbs2?/? but not Bbs6?/? mice. Of note, the NO-producing enzymes (eNOS and iNOS) were upregulated in the aorta of Bbs2?/? but not Bbs6?/? mice. On the other hand, the expression level of membrane subunits of NADPH oxidase (p22phox and p47phox) in the aorta was decreased in Bbs2?/? mice but increased in Bbs6?/? mice. In conclusion, these data implicate Bbs genes in the regulation of vascular function and demonstrate that disrupting Bbs2 and Bbs6 genes affect differentially the vascular function. PMID:20852044

  10. Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model.

    PubMed

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

    2014-01-01

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

  11. 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

  12. Cognitive, Sensory, and Psychosocial Characteristics in Patients with Bardet-Biedl Syndrome

    PubMed Central

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

    2015-01-01

    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 six 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

  13. Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).

    PubMed

    Ye, Xin; Dai, Jianliang; Fang, Weiqun; Jin, Wei; Guo, Yi; Song, Jiaping; Ji, Chaoneng; Gu, Shaohua; Xie, Yi; Mao, Yumin

    2004-06-01

    Bardet-Biedl syndrome (BBS) is a heterogeneous multisystemic disorder characterized primarily by five cardinal features of retinal degeneration, obesity, polydactyly, hypogenitalism and mental retardation. To date, six distinct BBS loci that have been identified on different chromosomes. BBS4 gene is mapped to 15q22.2-23, which when mutated can cause BBS4. Its protein shows strong homology to O-linked N-acetylglucosamine (O-GlcNAc) transferase. Here we report a splice variant of BBS4, which is 2556 bp in length and has an open reading frame coding a predicted 527 amino-acids protein. RT-PCR shows that the cDNA is widely expressed while it has higher expression levels in pancreas, liver and prostate. PMID:15497446

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

    PubMed Central

    2011-01-01

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

  15. 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 cilium of photoreceptors, where BBS5 is also localized. Like BBS5, the binding of BBS5L to arrestin1 can be modulated by phosphorylation through protein kinase C. Conclusions In this study we have identified a novel splice variant of BBS5 that appears to be expressed only in the retina. The BBS5 splice variant is expressed at approximately 10% of full-length BBS5 level. No unique functional or localization properties could be identified for the splice variant compared to BBS5. PMID:26867008

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

    PubMed Central

    2013-01-01

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

  17. Neuropeptide Y family receptors traffic via the Bardet-Biedl syndrome pathway to signal in neuronal primary cilia.

    PubMed

    Loktev, Alexander V; Jackson, Peter K

    2013-12-12

    Human monogenic obesity syndromes, including Bardet-Biedl syndrome (BBS), implicate neuronal primary cilia in regulation of energy homeostasis. Cilia in hypothalamic neurons have been hypothesized to sense and regulate systemic energy status, but the molecular mechanism of this signaling remains unknown. Here, we report a comprehensive localization screen of 42 G-protein-coupled receptors (GPCR) revealing seven ciliary GPCRs, including the neuropeptide Y (NPY) receptors NPY2R and NPY5R. We show that mice modeling BBS disease or obese tubby mice fail to localize NPY2R to cilia in the hypothalamus and that BBS mutant mice fail to activate c-fos or decrease food intake in response to the NPY2R ligand PYY3-36. We find that cells with ciliary NPY2R show augmented PYY3-36-dependent cAMP signaling. Our data demonstrate that ciliary targeting of NPY receptors is important for controlling energy balance in mammals, revealing a physiologically defined ligand-receptor pathway signaling within neuronal cilia. PMID:24316073

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

    PubMed Central

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

    2013-01-01

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

  19. Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.

    PubMed

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

    2013-01-01

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

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

    PubMed

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

    2014-10-15

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

  1. Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.

    PubMed

    Datta, Poppy; Allamargot, Chantal; Hudson, Joseph S; Andersen, Emily K; Bhattarai, Sajag; Drack, Arlene V; Sheffield, Val C; Seo, Seongjin

    2015-08-11

    Compartmentalization and polarized protein trafficking are essential for many cellular functions. The photoreceptor outer segment (OS) is a sensory compartment specialized for phototransduction, and it shares many features with primary cilia. As expected, mutations disrupting protein trafficking to cilia often disrupt protein trafficking to the OS and cause photoreceptor degeneration. Bardet-Biedl syndrome (BBS) is one of the ciliopathies associated with defective ciliary trafficking and photoreceptor degeneration. However, precise roles of BBS proteins in photoreceptor cells and the underlying mechanisms of photoreceptor degeneration in BBS are not well understood. Here, we show that accumulation of non-OS proteins in the OS underlies photoreceptor degeneration in BBS. Using a newly developed BBS mouse model [Leucine zipper transcription factor-like 1 (Lztfl1)/Bbs17 mutant], isolated OSs, and quantitative proteomics, we determined 138 proteins that are enriched more than threefold in BBS mutant OS. In contrast, only eight proteins showed a more than threefold reduction. We found striking accumulation of Stx3 and Stxbp1/Munc18-1 and loss of polarized localization of Prom1 within the Lztfl1 and Bbs1 mutant OS. Ultrastructural analysis revealed that large vesicles are formed in the BBS OS, disrupting the lamellar structure of the OS. Our findings suggest that accumulation (and consequent sequestration) of non-OS proteins in the OS is likely the primary cause of photoreceptor degeneration in BBS. Our data also suggest that a major function of BBS proteins in photoreceptors is to transport proteins from the OS to the cell body or to prevent entry of non-OS proteins into the OS. PMID:26216965

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

    PubMed Central

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

    2011-01-01

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

  3. A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

    PubMed Central

    Davis, Roger E.; Swiderski, Ruth E.; Rahmouni, Kamal; Nishimura, Darryl Y.; Mullins, Robert F.; Agassandian, Khristofor; Philp, Alisdair R.; Searby, Charles C.; Andrews, Michael P.; Thompson, Stewart; Berry, Christopher J.; Thedens, Daniel R.; Yang, Baoli; Weiss, Robert M.; Cassell, Martin D.; Stone, Edwin M.; Sheffield, Val C.

    2007-01-01

    Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. Of the 12 known BBS genes, BBS1 is the most commonly mutated, and a single missense mutation (M390R) accounts for ?80% of BBS1 cases. To gain insight into the function of BBS1, we generated a Bbs1M390R/M390R knockin mouse model. Mice homozygous for the M390R mutation recapitulated aspects of the human phenotype, including retinal degeneration, male infertility, and obesity. The obese mutant mice were hyperphagic and hyperleptinemic and exhibited reduced locomotor activity but no elevation in mean arterial blood pressure. Morphological evaluation of Bbs1 mutant brain neuroanatomy revealed ventriculomegaly of the lateral and third ventricles, thinning of the cerebral cortex, and reduced volume of the corpus striatum and hippocampus. Similar abnormalities were also observed in the brains of Bbs2?/?, Bbs4?/?, and Bbs6?/? mice, establishing these neuroanatomical defects as a previously undescribed BBS mouse model phenotype. Ultrastructural examination of the ependymal cell cilia that line the enlarged third ventricle of the Bbs1 mutant brains showed that, whereas the 9 + 2 arrangement of axonemal microtubules was intact, elongated cilia and cilia with abnormally swollen distal ends were present. Together with data from transmission electron microscopy analysis of photoreceptor cell connecting cilia, the Bbs1 M390R mutation does not affect axonemal structure, but it may play a role in the regulation of cilia assembly and/or function. PMID:18032602

  4. Bardet-Biedl Syndrome

    MedlinePLUS

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  5. 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.

  6. Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

    PubMed

    Fattahi, Zohreh; Rostami, Parvin; Najmabadi, Amin; Mohseni, Marzieh; Kahrizi, Kimia; Akbari, Mohammad Reza; Kariminejad, Ariana; Najmabadi, Hossein

    2014-07-01

    Bardet-Biedl syndrome (BBS) is a rare ciliopathy disorder that is clinically and genetically heterogeneous with 18 known genes. This study was performed to characterize responsible genes and mutation spectrum in a cohort of 14 Iranian families with BBS. Sanger sequencing of the most commonly mutated genes (BBS1, BBS2 and BBS10) accounting for ?50% of BBS patients determined mutations only in BBS2, including three novel mutations. Next, three of the remaining patients were subjected to whole exome sequencing with 96% at 20 × depth of coverage that revealed novel BBS4 mutation. Observation of no mutation in the other patients represents the possible presence of novel genes. Screening of the remaining patients for six other genes (BBS3, BBS4, BBS6, BBS7, BBS9 and BBS12) revealed five novel mutations. This result represents another indication for the genetic heterogeneity of BBS and extends the mutational spectrum of the disease by introducing nine novel mutations in five BBS genes. In conclusion, although BBS1 and BBS10 are among the most commonly mutated genes in other populations like Caucasian, these two seem not to have an important role in Iranian patients. This suggests that a different strategy in molecular genetics diagnostic approaches in Middle Eastern countries such as Iran should be considered. PMID:24849935

  7. Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

    PubMed Central

    Zhang, Qihong; Nishimura, Darryl; Seo, Seongjin; Vogel, Tim; Morgan, Donald A.; Searby, Charles; Bugge, Kevin; Stone, Edwin M.; Rahmouni, Kamal; Sheffield, Val C.

    2011-01-01

    Bardet-Biedl syndrome (BBS) is a heterogeneous disorder characterized by obesity, retinopathy, polydactyly, and congenital anomalies. The incidence of hypertension and diabetes are also increased in BBS patients. Mutation of 16 genes independently causes BBS, and seven BBS proteins form the BBSome that promotes ciliary membrane elongation. BBS3 (ARL6), an ADP ribosylation factor-like small GTPase, is not part of the BBSome complex. The in vivo function of BBS3 is largely unknown. Here we developed a Bbs3 knockout model and demonstrate that Bbs3?/? mice develop BBS-associated phenotypes, including retinal degeneration, male infertility, and increased body fat. Interestingly, Bbs3?/? mice develop some unique phenotypes not seen in other BBS knockout models: no overt obesity, severe hydrocephalus, and elevated blood pressure (shared by some but not all BBS gene knockout mice). We found that endogenous BBS3 and the BBSome physically interact and depend on each other for their ciliary localization. This finding explains the phenotypic similarity between Bbs3?/? mice and BBSome subunit knockout mice. Loss of Bbs3 does not affect BBSome formation but disrupts normal localization of melanin concentrating hormone receptor 1 to ciliary membranes and affects retrograde transport of Smoothened inside cilia. We also show that the endogenous BBSome and BBS3 associate with membranes and the membrane association of the BBSome and BBS3 are not interdependent. Differences between BBS mouse models suggest nonoverlapping functions to individual BBS protein. PMID:22139371

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

    PubMed Central

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

    2010-01-01

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

  9. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

    PubMed Central

    Redin, Claire; Le Gras, Stéphanie; Mhamdi, Oussema; Geoffroy, Véronique; Stoetzel, Corinne; Vincent, Marie-Claire; Chiurazzi, Pietro; Lacombe, Didier; Ouertani, Ines; Petit, Florence; Till, Marianne; Verloes, Alain; Jost, Bernard; Chaabouni, Habiba Bouhamed; Dollfus, Helene; Mandel, Jean-Louis; Muller, Jean

    2012-01-01

    Background Bardet-Biedl syndrome (BBS) is a pleiotropic recessive disorder that belongs to the rapidly growing family of ciliopathies. It shares phenotypic traits with other ciliopathies, such as Alström syndrome (ALMS), nephronophthisis (NPHP) or Joubert syndrome. BBS mutations have been detected in 16 different genes (BBS1-BBS16) without clear genotype-to-phenotype correlation. This extensive genetic heterogeneity is a major concern for molecular diagnosis and genetic counselling. While various strategies have been recently proposed to optimise mutation detection, they either fail to detect mutations in a majority of patients or are time consuming and costly. Method We tested a targeted exon-capture strategy coupled with multiplexing and high-throughput sequencing on 52 patients: 14 with known mutations as proof-of-principle and 38 with no previously detected mutation. Thirty genes were targeted in total including the 16 BBS genes, the 12 known NPHP genes, the single ALMS gene ALMS1 and the proposed modifier CCDC28B. Results This strategy allowed the reliable detection of causative mutations (including homozygous/heterozygous exon deletions) in 68% of BBS patients without previous molecular diagnosis and in all proof-of-principle samples. Three probands carried homozygous truncating mutations in ALMS1 confirming the major phenotypic overlap between both disorders. The efficiency of detecting mutations in patients was positively correlated with their compliance with the classical BBS phenotype (mutations were identified in 81% of ‘classical’ BBS patients) suggesting that only a few true BBS genes remain to be identified. We illustrate some interpretation problems encountered due to the multiplicity of identified variants. Conclusion This strategy is highly efficient and cost effective for diseases with high genetic heterogeneity, and guarantees a quality of coverage in coding sequences of target genes suited for diagnosis purposes. PMID:22773737

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

    PubMed Central

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

    2011-01-01

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

  11. 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. PMID:26518167

  12. 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

  13. Genetics Home Reference: Bardet-Biedl syndrome

    MedlinePLUS

    ... brachydactyly ; cell ; cholesterol ; diabetes ; digestive ; digestive system ; disability ; end-stage renal disease ; gene ; genitalia ; hypertension ; hypogonadism ; infertile ; inherited ; kidney ; ...

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

    PubMed Central

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

    2014-01-01

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

  15. Screening for Hormonal, Monogenic, and Syndromic Disorders in Obese Infants and Children

    PubMed Central

    Mason, Kelly; Page, Laura; Balikcioglu, Pinar Gumus

    2015-01-01

    The prevalence of pediatric obesity in the United States is nearly 17%. Most cases are “exogenous”, resulting from excess energy intake relative to energy expenditure over a prolonged period of time. However, some cases of obesity are “endogenous”, associated with hormonal, genetic, or syndromic disorders such as hypothyroidism, Cushing’s syndrome, growth hormone deficiency, defective leptin signaling, mutations in the melanocortin 4 receptor, and Prader-Willi and Bardet-Biedl syndromes. This article reviews the hormonal, monogenic, and syndromic causes of childhood obesity and identifies critical features that distinguish “endogenous” obesity disorders from the more common exogenous obesity. Findings that raise suspicion for endogenous obesity include onset in infancy, lack of satiety, poor linear growth, dysmorphic features, and cognitive dysfunction. Selection and interpretation of appropriate laboratory tests and indications for subspecialist referral are also discussed. PMID:25198446

  16. A Case of Hydrometrocolpos and Polydactyly

    PubMed Central

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

    2015-01-01

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

  17. Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

    PubMed

    de Pontual, Loïc; Zaghloul, Norann A; Thomas, Sophie; Davis, Erica E; McGaughey, David M; Dollfus, Hélène; Baumann, Clarisse; Bessling, Seneca L; Babarit, Candice; Pelet, Anna; Gascue, Cecilia; Beales, Philip; Munnich, Arnold; Lyonnet, Stanislas; Etchevers, Heather; Attie-Bitach, Tania; Badano, Jose L; McCallion, Andrew S; Katsanis, Nicholas; Amiel, Jeanne

    2009-08-18

    Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either sporadic or familial, is RET. HSCR also presents in various syndromes, including Shah-Waardenburg syndrome (WS), Down (DS), and Bardet-Biedl (BBS). Here, we report 3 families with BBS and HSCR with concomitant mutations in BBS genes and regulatory RET elements, whose functionality is tested in physiologically relevant assays. Our data suggest that BBS mutations can potentiate HSCR predisposing RET alleles, which by themselves are insufficient to cause disease. We also demonstrate that these genes interact genetically in vivo to modulate gut innervation, and that this interaction likely occurs through complementary, yet independent, pathways that converge on the same biological process. PMID:19666486

  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. Novel variant syndrome associated with congenital hepatic fibrosis

    PubMed Central

    Bayraktar, Yusuf; Yonem, Ozlem; Varlı, Kubilay; Taylan, Hande; Shorbagi, Ali; Sokmensuer, Cenk

    2015-01-01

    Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalo-hepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual patients may be difficult. We present herein three syndromic siblings who were products of a consanguineous marriage. We investigated in detail at least six organ systems in these patients, namely the liver, brain, eye, kidneys, skeleton, and gonads. The common features observed in these three cases were congenital hepatic fibrosis, retinitis pigmentosa, truncal obesity, rotatory nystagmus, mental retardation, advanced myopia, and high-arched palate. The clinical dysmorphology in these patients was distinct and lacked the major features of the known syndromes associated with congenital hepatic fibrosis. Although some features of these presented cases are similar to those found in Bardet-Biedl syndrome (BBS), the absence of some major criteria of BBS (polydactyly, renal abnormality, and hypogonadism) suggests that this may be a new syndrome. All three patients remain under follow-up in the departments of Gastroenterology, Ophthalmology, and Neurology at Hacettepe University. PMID:26488028

  20. Inherited cerebrorenal syndromes.

    PubMed

    Schurman, Scott J; Scheinman, Steven J

    2009-09-01

    Abnormalities in the central nervous system and renal function are seen together in a variety of congenital syndromes. This Review examines the clinical presentation and the genetic basis of several such syndromes. The X-linked oculocerebrorenal syndrome of Lowe is characterized by developmental delay, blindness, renal tubular dysfunction, and progressive renal failure. This syndrome results from mutations in the OCRL gene, which encodes a phosphatase involved in endosomal trafficking. Mutations in OCRL also occur in Dent disease, which has a milder disease phenotype than Lowe syndrome. Patients with Joubert syndrome have cerebellar ataxia, pigmentary retinopathy, and nephronophthisis. Joubert syndrome is a genetically heterogeneous condition associated with mutations in at least five genes that encode ciliary proteins. Bardet-Biedl syndrome is a clinically variable condition associated with learning disabilities, progressive visual loss, obesity, polydactyly, hypogonadism, and cystic and fibrotic renal changes that can lead to renal failure. Most of the 12 genes mutated in Bardet-Biedl syndrome are also involved in ciliary function, as are the genes implicated in other 'ciliopathies' with similar phenotypes, including Meckel syndrome. PMID:19701229

  1. A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2007-08-01

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

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

    ClinicalTrials.gov

    2016-01-26

    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

  4. Rarer syndromes characterized by hypogonadotropic hypogonadism.

    PubMed

    Aminzadeh, Majid; Kim, Hyung-Goo; Layman, Lawrence C; Cheetham, Timothy D

    2010-01-01

    Hypogonadotropic hypogonadism (HH) secondary to hypothalamic gonadotropin-releasing hormone deficiency is a notable feature of a number of rare syndromes, where unlike idiopathic (isolated) HH, other endocrinopathies may also be apparent. The presence of a particular spectrum of clinical features in addition to HH may suggest a particular underlying diagnosis. Placing the diagnosis of HH into that context will then have important implications in terms of management and predicting long-term functional outcome. In some instances, establishing the genetic basis of a particular syndrome or disorder has advanced the understanding of normal hypothalamo-pituitary-gonadal function (e.g. LEP deficiency, DAX-1 and CHARGE syndrome) whilst in other disorders much has still to be learnt (e.g. Bardet-Biedl and Prader-Willi syndrome). In this chapter the above syndromes, where HH is a feature in most or all affected individuals, will be discussed. Recent advances in our understanding of the pathophysiology of the HH will be highlighted and management options presented. Longer term therapy with sex steroid replacement is becoming even more important if improvements in life expectancy are to be matched by improvements in quality of life. PMID:20389093

  5. 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

  6. Alström Syndrome: Genetics and Clinical Overview

    PubMed Central

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

    2011-01-01

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

  7. Clinical and Molecular Investigations Into Ciliopathies

    ClinicalTrials.gov

    2015-11-17

    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

  8. Case report: Alagille syndrome.

    PubMed

    Guadagni, M G; Cocchi, S; Tagariello, T; Piana, G

    2005-10-01

    The clinical case of a boy aged 6 years suffering from Alagille syndrome is described. This is a rare genetic disease characterised, from the hepatic point of view, by anomalies of the intrahepatic biliary ducts (in terms of number, histology and immunohistochemistry) with cholestasis; from the systemic point of view it is characterised by anomalies of various systems (heart, musculoskeletal system, eyes, face, kidneys and nervous system). The patient was referred for dental consultation by the Pediatric Cardiology Section, Sant'Orsola-Malpighi Polyclinic, Bologna City Hospital. Medical history indicated liver transplantation at 3 years; immunosuppressive treatment; heart disease with low risk of bacterial endocarditis (interventricular defect and systolic murmur). Objective examination revealed a dental formula compatible with his age, of a decided green colour (above all the permanent dentition) with numerous caries lesions on the posterior deciduous teeth. In agreeing the treatment plan with the cardiologist (treatment of caries and sealing the fissures and cracks in the permanent first molars) it was decided that antibiotic prophylaxis was not required since such conservative treatment is not at risk for bacterial endocarditis. The patient returned 15 min after the end of the second session with marked swelling of the right upper hemi-lip. Having excluded traumatic origin, a hypothesis was formulated of hypersensitivity to products used during the dental session, in particular talcum-coated gloves and latex rubber dam. The patient was referred immediately to the Dermatology Service, Sant'Orsola-Malpighi Polyclinic, for the appropriate dermatological tests (prick test and epicutaneous test) which confirmed the suspected diagnosis: urticaria from contact with latex materials. The clinical case described confirms the need for the dentist of an interdisciplinary approach in patients suffering from systemic diseases and/or syndromes. PMID:16224379

  9. [Two cases of Costello syndrome].

    PubMed

    Masuyama, Tatsuo; Matsuo, Muneaki; Kuno, Tateo; Kitsuki, Kyoko; Kan, Yuka; Ishii, Kiyohisa; Ohtani, Yoshinobu

    2003-01-01

    We report two unrelated cases of Costello syndrome, presenting with poor postnatal growth, mild mental retardation, poor feeding, curly hair, coarse characteristic face, loose skin, hypotonia, and cardiac involvement. Nasal papilloma and acanthosis nigricans were the most characteristic features of this syndrome. Both cases had atrial fibrilation from infancy to early childhood. One patient had hypertonia in the lower extremities and pes equinovarus, while the other had hypotonia and pes planovalgus. PMID:12607291

  10. 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

  11. Alstrom syndrome: a case report.

    PubMed

    Koray, F; Dorter, C; Benderli, Y; Satman, I; Yilmaz, T; Dinccag, N; Karsidag, K

    2001-09-01

    Alstrom syndrome is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, hearing loss and short stature. Previous studies, have reported no information regarding oral findings. This article describes oral findings in two cases of Alstrom syndrome. In both cases, gingivitis was present and also light yellow-brown discolored enamel bands were observed on the anterior teeth. This staining may have resulted from discoloration of the preexisting slight band-like enamel hypoplasia. The gingiva was examined histologically by light and transmission electron microscopy. Irregular thickness of the basal lamina and delamination of the myelin sheath were detected by transmission electron microscopy. There is no information about pathological odontogenesis in Alstrom syndrome in previous reports. Oral present findings may contribute further information about the clinical manifestations of Alstrom syndrome. PMID:11732744

  12. 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

  13. A case of hepatopulmonary syndrome

    PubMed Central

    Green, Lawrence; Houghton, Andrew R; Campbell, Jim

    2015-01-01

    Summary This report presents the case of a 42-year-old man with liver cirrhosis who presents with breathlessness. Initial investigations are unable to explain his persistent hypoxia and a diagnosis of hepatopulmonary syndrome is considered. Saline contrast echocardiography is utilised in confirming the diagnosis. Details of this case as well as practicalities in performing and interpreting saline contrast echocardiography are reviewed. Learning points Key features of hepatopulmonary syndrome are liver disease, hypoxia and pulmonary vascular dilatations.Saline contrast echocardiography is a simple inexpensive procedure to perform and key to confirming the diagnosis of hepatopulmonary syndrome. Detection can be improved by performing the scan in the stand-up position.Agitated saline contrast studies are more commonly performed to identify intra-cardiac shunts. Timing of contrast arrival in the left heart chambers is key to differentiating intra-cardiac shunting from extra-cardiac pulmonary transit. PMID:26693337

  14. Evans Syndrome: A case report.

    PubMed

    Porcaro, F; Valenzise, M; Candela, G; Chiera, F; Corica, D; Pitrolo, E; Santucci, S; Romeo, M; Nigro, S; Zirilli, G

    2014-01-01

    We describe a case of a 14-years old caucasian female affected by autoimmune hemolytic anemia and thrombocytopenia successfully treated with intravenous immunoglobulin and steroids. Nevertheless, neutropenia occurred during follow-up period. Positivity of direct antiglobulin test and sieric anti-neutrophil antibodies suggested the diagnosis of Evans syndrome trilineage. PMID:25573707

  15. Atypical case of Morvan's syndrome.

    PubMed

    Lotan, Itay; Djaldetti, Ruth; Hellman, Mark A; Benninger, Felix

    2016-03-01

    Morvan's syndrome is a rare neurological condition characterized by the combination of neuromyotonia, autonomic instability and encephalopathy, associated with auto-antibodies against voltage-gated potassium channels. We report a patient with an initial presentation suggestive of typical Guillain-Barré syndrome (GBS), who later developed clinical and laboratory features compatible with Morvan's syndrome. Several months after resolution of the neurological symptoms, as well as disappearance of the characteristic anti-leucine-rich, glioma inactivated 1 (anti-LGI1) antibodies, the patient presented with episodes of fever of unknown origin, during which the antibodies became positive again, suggesting the possibility of a relapse. In this case, both the GBS-like symptoms at presentation and the isolated episodes of fever of unknown origin during follow-up are atypical, and may suggest the presence of an additional, yet unknown antibody. PMID:26549678

  16. Witkop's syndrome: A case report

    PubMed Central

    Arora, Varuni; Agrawal, Kaushal Kishor; Mishra, Apurva; Chandra, Anil

    2015-01-01

    Witkop's syndrome is a rare autosomal dominant disorder characterized by tooth and nail abnormalities. It is a variant of ectodermal dysplasia, which is thought to occur in approximately 1 in 100,000 live births. Thus, such a low occurrence and paucity of clearly delineating features make its identification in general population a real challenge. This case report aims to add to the existing literature a commonsense approach of identifying the uncommon thing. PMID:26937375

  17. 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.

  18. Eagle's syndrome: a case report

    PubMed Central

    Moon, Chang-Sig; Lee, Baek-Soo; Kwon, Yong-Dae; Choi, Byung-Jun; Lee, Jung-Woo; Lee, Hyun-Woo; Yun, Sun-Ung

    2014-01-01

    Eagle's syndrome is a disease caused by an elongated styloid process or calcified stylohyoid ligament. Eagle defined the disorder in 1937 by describing clinical findings related to an elongated styloid process, which is one of the numerous causes of pain in the craniofacial and cervical region. The prevalence of individuals with this anatomic abnormality in the adult population is estimated to be 4% with 0.16% of these individuals reported to be symptomatic. Eagle's syndrome is usually characterized by neck, throat, or ear pain; pharyngeal foreign body sensation; dysphagia; pain upon head movement; and headache. The diagnosis of Eagle's syndrome must be made in association with data from the clinical history, physical examination, and imaging studies. Patients with increased symptom severity require surgical excision of the styloid process, which can be performed through an intraoral or an extraoral approach. Here, we report a rare case of stylohyoid ligament bilaterally elongated to more than 60 mm in a 51-year-old female. We did a surgery by extraoral approach and patient's symptom was improved. PMID:24627843

  19. A rare case report: SCARF syndrome

    PubMed Central

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

    2014-01-01

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

  20. 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

  1. 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. PMID:26312723

  2. [Hay-Wells syndrome: A case report].

    PubMed

    Khalfi, L; Hamama, J; Mahroug, L; Arrob, A; Sabani, H; El Khatib, K

    2016-02-01

    Hay-Wells syndrome is a rare form of ectodermal dysplasia. We report a case of a 5-year-old girl, the daughter of non-consanguineous parents. She had the characteristic of facial dysmorphia of Hay-Wells syndrome. Molecular analysis confirmed diagnosis. The patient had a cleft palate, which is considered one of cardinal signs of this syndrome. She underwent Veau-Wardill-Kilner palatoplasty with satisfactory results. Through this case report, we describe the maxillofacial manifestations of this syndrome with a literature review. PMID:26724982

  3. Gorlin-goltz syndrome: a rare case.

    PubMed

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

    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

  4. 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

  5. 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

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

    ERIC Educational Resources Information Center

    Swartz, Stanley L.

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

  7. Treacher Collins syndrome: a case report

    PubMed Central

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

    2013-01-01

    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. PMID:23709540

  8. 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

  9. [Description of a case of Cotard's syndrome].

    PubMed

    Sabbatini, F; Actis-Giorgio, M; Madaro, A; Ravizza, L

    1996-03-01

    The authors report the case of a male 61-year-old patient with Cotard's syndrome. Onset occurred three years ago with depressive symptoms that did not show the specific features of the syndrome, but failed to respond fully to treatment with tricyclic antidepressants. A probable later recurrence was characterised by elements typical of Cotard's syndrome. Treatment with tricyclic and serotoninergic antidepressants was ineffective. Encephalic NMR showed multiple ischemic foci and signs of cortical atrophy. Three years after the onset of depressive symptoms Cotard's syndrome is virtually unchanged and shows ingravescent mental deterioration. PMID:8926855

  10. Tethered cord syndrome: a pediatric case study.

    PubMed

    Greif, L; Stalmasek, V

    1989-04-01

    Tethered cord syndrome, seen in patients with spinal dysraphism, is a progressive neurological deterioration due to stretching of the spinal cord. Spinal dysraphism results from defects during embryonic closure of the neural tube, usually in the lumbosacral region. In tethered cord syndrome an abnormally low conus medullaris is tethered by intradural abnormalities such as a short, thickened filum terminale, fibrous bands, a lipoma or diastematomyelia. This article distinguishes tethered cord syndrome from other forms of occult spinal dysraphism and describes and compares normal anatomy to pathological changes. Clinical symptoms and nursing management of the pediatric patient with tethered cord syndrome will be exemplified by a case study presentation. PMID:2523454

  11. Williams syndrome and psychosis: a case report

    PubMed Central

    2014-01-01

    Introduction Mental comorbidities, such as phobia, obsessive compulsive symptoms and anxiety disorders, are common in Williams syndrome. However, psychotic symptoms are rare in these patients. We report a case of psychosis in a patient with Williams syndrome. Case presentation A 23-year-old Caucasian woman with Williams syndrome arrived at the emergency room with persecutory delusions, auditory and verbal hallucinations, soliloquies and psychomotor agitation. These symptoms were consistently present for 2 months. No evidence of other medical illnesses or psychoactive substances was found. There was no evidence of prior psychiatric symptoms or family history of psychiatric or neurological disorders. She was treated with antipsychotics and her symptoms were resolved. Conclusion We describe a rare case of a patient with Williams syndrome who experienced a nonorganic psychotic episode. Literature on this topic is scarce and, therefore, this case report intends to add further data about this comorbidity. PMID:24520861

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

    PubMed Central

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

    2013-01-01

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

  13. The eye as a window to rare endocrine disorders

    PubMed Central

    Chopra, Rupali; Chander, Ashish; Jacob, Jubbin J.

    2012-01-01

    The human eye, as an organ, can offer critical clues to the diagnosis of various systemic illnesses. Ocular changes are common in various endocrine disorders such as diabetes mellitus and Graves’ disease. However there exist a large number of lesser known endocrine disorders where ocular involvement is significant. Awareness of these associations is the first step in the diagnosis and management of these complex patients. The rare syndromes involving the pituitary hypothalamic axis with significant ocular involvement include Septo-optic dysplasia, Kallman's syndrome, and Empty Sella syndrome all affecting the optic nerve at the optic chiasa. The syndromes involving the thyroid and parathyroid glands that have ocular manifestations and are rare include Mc Cune Albright syndrome wherein optic nerve decompression may occur due to fibrous dysplasia, primary hyperparathyroidism that may present as red eye due to scleritis and Ascher syndrome wherein ptosis occurs. Allgrove's syndrome, Cushing's disease, and Addison's disease are the rare endocrine syndromes discussed involving the adrenals and eye. Ocular involvement is also seen in gonadal syndromes such as Bardet Biedl, Turner's, Rothmund's, and Klinefelter's syndrome. This review also highlights the ocular manifestation of miscellaneous syndromes such as Werner's, Cockayne's, Wolfram's, Kearns Sayre's, and Autoimmune polyendocrine syndrome. The knowledge of these relatively uncommon endocrine disorders and their ocular manifestations will help an endocrinologist reach a diagnosis and will alert an ophthalmologist to seek specialty consultation of an endocrinologist when encountered with such cases. PMID:22629495

  14. Liddle's Syndrome: A Case Report.

    PubMed

    Phoojaroenchanachai, Meta; Buranakitjaroen, Peera; Limwongse, Chanin

    2015-10-01

    A thirty-eight years old female presented with frequent proximal weakness, severe hypertension, and persistent kaliuresis despite hypokalemia. After normalized serum potassium level, hyporeninemic hypoaldosteronism was detected Pedigree study supported an autosomal dominant inherited disease. A causative mutation for Liddle's syndrome (LS) in this patient was identified to be a novel frameshift mutation. DNA sequencing resulted in exon 13 of SCNN1B gene: SCNN1B NM_000336.2:c.1 724_1730dupGGCCCAC [p.Pro5 75Argfs*17]. Since LS is a rare existing clinical syndrome in Thailand, correct diagnosis should be confirmed by genetic studies. Therefore, proper management could be given. PMID:26638596

  15. Freeman-Sheldon syndrome: a case report.

    PubMed

    Aren, Gamze; Yurdabakan, Zuhal; Ozcan, Ilknur

    2003-04-01

    Freeman-Sheldon syndrome, also called "whistling-face syndrome," is a very rare genetic condition, occurring both sporadically and by transmission through autosomal dominant or recessive mode, which affects primarily the face and skeleton. Characteristics include microstomia of the mouth, which gives the person a whistling appearance, a flat face, club feet, contracted joint muscles of the fingers and hands, and underdeveloped nose cartilage. This article describes a case of Freeman-Sheldon syndrome in a 10-year-old male. The most apparent deformities are associated with orofacial and skeletal development. PMID:12731619

  16. Down syndrome with congenital hydrocephalus: case report.

    PubMed

    Forcelini, Cassiano Mateus; Mallmann, Adroaldo Baseggio; Crusius, Paulo Sérgio; Seibert, Cláudio Albano; Crusius, Marcelo Ughini; Zandoná, Denise Isabel; Carazzo, Charles; Crusius, Cassiano Ughini; Goellner, Eduardo; Ragnini, Jean; Manzato, Luciano Bambini; Winkelmann, Gustavo; Lima, Aline Vieira; Bauermann, Manfred Georg

    2006-09-01

    Down syndrome is the most frequent genetic cause of mental retardation. Although usually presenting dysmorphic features and organ malformations, it is rarely associated with congenital hydrocephalus. The case of a male neonate whose hydrocephalus was detected since the pregnancy and was discovered to have the syndrome at birth is reported. Chromosomal analysis confirmed the genetic disorder, and hydrocephalus was treated with ventriculoperitoneal shunt because of abnormal increase of head circumference. The patient has been accompanied and his development is considered normal when compared to the expected for those affected by the syndrome. PMID:17057901

  17. Primary Antiphospholipid Antibody Syndrome: A Case Report

    PubMed Central

    Hanjagi, Siddaraya Y

    2015-01-01

    Primary Antiphospholipid antibody syndrome is a rare disease associated with thromboembolic events which may affect either the arterial or the venous vasculature. It presents with an increased risk of thrombosis in pregnant woman leading to repeated fetal losses. We present here a case of primary antiphospholipid antibody syndrome in young women who had previous event of gangrene of toes leading to their amputation and repeated fetal losses. PMID:26557558

  18. 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.

  19. A possible case of Asperger's syndrome.

    PubMed

    Munro, A

    1987-08-01

    Asperger's syndrome is an autistic-like disorder, probably neuropsychiatric in character, which fits with DSM-III criteria for Atypical Pervasive Development Disorder. Because the abnormality is less pervasive than Autistic Disorder, it may be misdiagnosed as Personality Disorder in the adolescent, and the author presents an illustrative case in this respect. The condition is sometimes associated with Tourette's Syndrome, though not in this particular patient. Treatment remains speculative. PMID:3690475

  20. 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

  1. 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

  2. [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

  3. 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

  4. 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

  5. Rapunzel syndrome: a rare postpartum case.

    PubMed

    Tegene, Teshome; Foda, Yahia; Hussain, Omar; Oloniyo, Kolawole; Ha, Ngoc-Tram; 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

  6. Cotard's syndrome--two case reports.

    PubMed

    Ko, S M

    1989-06-01

    Two cases of Cotard's Syndrome are described--one in a 33-year-old housewife suffering from paranoid schizophrenia and another in a 43-year-old housewife with acute psychotic depression. This rare syndrome is characterized by an extreme form of nihilistic delusion in which the patient, more frequently a woman, denies her own existence and that of the external world. Its onset is often sudden with no previous psychiatric history. Treatment of the condition depends on the underlying psychiatric illness. Both cases responded well to treatment. PMID:2588021

  7. Apical ballooning syndrome: a case report

    PubMed Central

    2012-01-01

    Background Apical ballooning syndrome mimics acute coronary syndromes and it is characterized by reversible left ventricular apical ballooning in the absence of angiographically significant coronary artery stenosis. Case presentation This is a case of a 40-year-old Caucasian male without any health related problems that was submitted to an urgent coronary angiography because of acute chest pain and marked precordial T-wave inversions suggestive of acute myocardial ischemia. Coronary angiography showed no significant stenosis of the coronary arteries. Left ventriculography showed systolic apical ballooning with mild basal hypercontraction. Conclusion Physicians should be aware of the presentation of apical ballooning syndrome, and the chest pain after following acute stress should not be readily attributed to anxiety. PMID:23270409

  8. Rumination Syndrome in Ethiopia: A Case Study

    PubMed Central

    2014-01-01

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

  9. An Atypical Case of Foreign Accent Syndrome

    ERIC Educational Resources Information Center

    Ryalls, Jack; Whiteside, Janet

    2006-01-01

    A new case of Foreign Accent Syndrome is described. This American woman presented with a British- or Australian- sounding accent after stroke, which resulted in a lacunar infarct in the left internal capsule. The atypical etiology and apparent changes in lexical use are described. It is hypothesized that an abnormally tense vocal tract posture may…

  10. [Goodpasture's syndrome--a case report].

    PubMed

    Stoicescu, P; Câlt, C; Galbenu, P; Constantinescu, I; Lichiardopol, A; Ulmeanu, R

    1995-01-01

    A female subject case aged 64 years is presented. The history shows several hospital admissions for lung diffuse infiltrative processes, accompanied with hemoptoic sputa. These infiltrations had a regressive evolution either spontaneously or under treatment. The diagnosis of Goodpasture syndrome was fixed post-mortem by alterations evidenced in the kidneys. PMID:8721825

  11. Unusual case of adult hemophagocytic syndrome

    PubMed Central

    Tamizifar, Babak; Samadi, Golnaz; Rismankarzadeh, Maryam

    2014-01-01

    Hemophagocytic syndrome (HPS) is an uncommon manifestation in systemic lupus erythematosus (SLE). Clinical features of HPS include fever, pancytopenia, abnormal liver enzyme, hepatosplenomegaly, lymphadenopathy, and coagulation disorder. HPS comprises primary and reactive forms. Herein, we describe a case of untreated SLE with HPS as one of the first manifestations of systemic Lupus. PMID:24778673

  12. Stiff limb syndrome: a case report

    PubMed Central

    2010-01-01

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

  13. [Anticonvulsant Hypersensitivity Syndrome: A Case Report].

    PubMed

    Valderrama Escudero, Felipe; Montoya González, Laura Elisa

    2014-01-01

    DRESS syndrome (skin reaction with eosinophilia and systemic symptoms) is an idiosyncratic drug reaction characterized by rash, fever, lymphadenopathy, and internal organ dysfunction. This case report is on a patient with bipolar affective disorder who presented with a systemic inflammatory response associated with the use of valproic acid, and an important activation of symptoms when used with other drugs with a different pharmacological action mechanism. The diagnosis of DRESS syndrome is primarily by exclusion, and its detection may be difficult, which could potentially become fatal for the patient. PMID:26574080

  14. 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. PMID:23543842

  15. Azathioprine hypersensitivity syndrome: a case report.

    PubMed

    Fenaux, S; Tintillier, M; Cuvelier, Ch; Migali, G; Pochet, J M

    2013-01-01

    We report here the case of a 51-year-old man presenting to the Emergency Department with a febrile cutaneous eruption with diffuse arthralgia 10 days after the onset of azathioprine therapy. The clinical examination did not reveal any inflammatory syndrome and the results of all bacteriological tests were negative. A skin biopsy was performed, which revealed a granulocytary pustula with superficial dermal oedema and a neutrophil infiltration without sign of vasculitis. A side effect of azathioprine was suspected, and treatment was discontinued. Fortunately, the patient recovered within a few days. Azathioprine hypersensitivity syndrome is a rare side effect of azathioprine. Hypersensitivity syndrome is an idiosyncratic, non-IgE-mediated reaction that appears to be unrelated to thiopurine methyltransferase levels. Diagnosis is mainly clinical and requires an exclusion of other processes. The only treatment option available is to stop azathioprine intake. PMID:24156226

  16. 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

  17. A special case of Wellens' syndrome

    PubMed Central

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

    2013-01-01

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

  18. Recognizing Diogenes syndrome: a case report

    PubMed Central

    2014-01-01

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

  19. [Maroteaux-Lamy syndrome: a case report].

    PubMed

    Mtar, Aida; Charfeddine, Bassem; Braham, Imen; Ben Abdallah, Jihene; Neffati, Souhir; Smach, Mohamed Ali; Bourfifa, Zouhaier; Ksouri, Monia; Dridi, Hedi; Limem, Khalifa

    2011-01-01

    The Maroteaux-Lamy disease, or mucopolysaccharidosis type VI is an inherited metabolic disorder severe and rare. It is caused by a deficiency of the enzyme arylsulfatase B. It is characterized by a heterogeneous clinical, radiological and genetic. We report the case of a Maroteaux-Lamy syndrome of in a child aged 7 years whose diagnosis was suspected clinically by the combination of a dysmorphic syndrome, a failure to thrive not harmonious, hepatomegaly and normal intelligence. Radiological exams have objectified dysostosis multiplex. Biochemical analysis of urine showed the abnormal presence of dermatan sulfate. The determination of leukocyte enzyme activity confirmed the diagnosis by showing arylsulfatase B deficiency. Hence the diagnosis of syndrome Maroteaux-Lamy in its mild form (type B) was selected. PMID:22123570

  20. "Syndrome in syndrome": Wernicke syndrome due to afferent loop syndrome. Case report and review of the literature.

    PubMed

    D'Abbicco, D; Praino, S; Amoruso, M; Notarnicola, A; Margari, A

    2011-01-01

    Wernicke syndrome is a rare neurological pathology due to a deficit in vitamin B1. The syndrome is common among alcohol abusers, patients with malignant tumor or gastrointestinal diseases, those who undergo hemodialysis or long-term peritoneal dialysis, pregnant women with hyperemesis, women who breast-feed, patients with hyperthyroidism or anorexia nervosa or gastric or jejunal-ileal bypass surgery for obesity, patients submitted to gastric surgery or prolonged total parenteral nutrition or prolonged intravenous therapy. We report a case of Wernicke syndrome due to afferent loop syndrome characterized by incoercible vomiting. PMID:22217376

  1. [Waardenburg syndrome type I: case report].

    PubMed

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

    2011-01-01

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

  2. Intrapartum diagnostic of Roberts syndrome - case presentation.

    PubMed

    Socolov, R?zvan 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

  3. [Kearns-Sayre syndrome: a case report].

    PubMed

    Gaboune, L; Baha Ali, T; Benfdil, N; Khoumiri, R; Ouaggag, B; Sayouti, A; Moutaouakil, A

    2012-11-01

    Kearns-Sayre syndrome (KSS), first described in 1958, is a multisystem disease defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy and atrioventricular block. These signs are frequently associated with increased cerebrospinal fluid protein level and cerebellar ataxia. This syndrome is caused by deletions in mitochondrial DNA, the age of onset is generally below 20, and the degree of severity differs between patients, as well as the prognosis, which may be fatal. The ocular manifestations include: bilateral ptosis, progressive external ophthalmoplegia and atypical pigmentary retinopathy. By way of this case report, the authors discuss the epidemiologic, clinical and therapeutic aspects of KSS, including the difficulty in managing ptosis in these cases. PMID:22981519

  4. 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

  5. [Epidermal nevus syndrome - a case report

    PubMed

    Marinoni, L P; Giraldi, S; Taniguchi, K; Carvalho, V O; Bertogna, J; Antoniuk, S; Bruck, I

    1999-01-01

    OBJECTIVES: To present the case of a patient with an epidermal nevus since birth and its relationship to neurologic signs and symptoms, emphasizing the importance of cutaneous manifestations as early markers of syndromes involving the Central Nervous System. METHODS: Clinical, radiological and histopathological data were analyzed. RESULTS: We report the case of a boy with an erythematous lesion on the neck and cheek since birth. At 9 months the lesion was velvety and slightly brown in color, with associated hemihypertrophy of the face. After 3 months he was hospitalized for having seizures. Computerized tomography of the brain disclosed hemimegalencephaly ipsilateral to the cutaneous lesions. DISCUSSION: The cutaneous findings can be an indicator of neurologic disease since both tissues have the same embryological origin: the neural crest. Thus, the Pediatrician must recognize these cutaneous signs which appear early in life and characterize some of the Neurocutaneous Syndromes so that a proper diagnosis and follow-up can be made. PMID:14685532

  6. Proteus syndrome: A rare case report

    PubMed Central

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

    2012-01-01

    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

  7. A Pediatric Case of Ramsay Hunt Syndrome

    PubMed Central

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

  8. [Platypnea-orthodeoxia syndrome: case report].

    PubMed

    Roche, L; Rioufol, G; Piszker, G; Genety, C; Ritz, B; Ferrini, M; Finet, G; Aupetit, J-F

    2013-11-01

    We report the case of an 80-year-old woman with symptomatic postural hypoxaemia caused by a right-to-left shunt through a patent foramen ovale. The hypoxaemia was enhanced by the supine position and disappeared in upright position. Potential mechanisms underlying postural variations of the shunt seemed to be similar to those describe in platypnea-orthodeoxia syndrome. Patient became asymptomatic after shunt resolution. PMID:24060466

  9. Fetal hydantoin syndrome: A case report.

    PubMed

    Singh, A; Bhatia, H P; Mohan, A; Sharma, N

    2016-01-01

    Fetal hydantoin syndrome (FHS) is a spectrum of defects caused to the developing fetus by exposure to the teratogenic effects of antiepileptic drug (AED) phenytoin during pregnancy. Its clinical manifestations include limb abnormalities, ocular defects, central nervous system anomalies, intrauterine growth restriction, and hand and phalangeal anomalies. This case report presents an 8-year-old child born to an epileptic mother with a history of AED therapy, with features suggestive of FHS. PMID:26838156

  10. 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

  11. 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

  12. A Rare Case of Vanishing Lung Syndrome.

    PubMed

    Vij, Amarjit Singh; James, Robert; Singh, Akashdeep; Dhaliwal, Amrinder Singh; Chhabra, Ajay; Vij, Kamaljeet Kaur

    2014-12-01

    Vanishing lung syndrome (VLS) is a rare radiological syndrome in which the lungs appear to be disappearing on X-ray. It is a chronic, progressive condition usually affecting young male smokers and is characterised by giant emphysematous bullae, which commonly develop in the upper lobes. We describe here a rare case of 60-year-old male patient who had a history of chronic smoking for 30 years. He had been admitted in the hospital multiple times due to spontaneous pneumothorax, type 2 respiratory failure and infective exacerbations. He was earlier diagnosed having chronic obstructive pulmonary disease (COPD) with predominant emphysema on the basis of his history and chest X-ray findings. Eventually, his CT chest revealed the diagnosis of giant bullous disease/vanishing lung syndrome. He had been surviving with his little lung tissue for about 10 years. No such case has been reported in the literature so far. He was attended last on 12th October, 2009 in medical outdoor of Christian Medical College and Hospital, Ludhiana by the first three authors. Thereafter, the patient was not traceable. PMID:26259424

  13. Prune Belly syndrome: A rare case report

    PubMed Central

    Samal, Sunil Kumar; Rathod, Setu

    2015-01-01

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

  14. [Fetal Escobar syndrome--a case report].

    PubMed

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

    2014-08-01

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

  15. Shushkakshipaka (dry eye syndrome): A case study

    PubMed Central

    Dhiman, K. S.

    2011-01-01

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

  16. Cornelia de Lange syndrome: a case report.

    PubMed

    Grau Carbó, Joaquim; López Jiménez, Julian; Giménez Prats, Maria José; Sànchez Molins, Meritxell

    2007-10-01

    Cornelia de Lange is a genetic syndrome which affects between 1/10.000 and 1/60.000 neonates, but its genetic bases are still not clear. Its principal clinical characteristics are the delay in growth and development, hirsute, structural anomalies in the limbs and distinctive facial characteristic. Dental problems are frequent and include: ogival palate, micrognathia, dental malalignment, delayed teething, microdontic teeth, periodontal disease and dental erosion produced by gastric reflux. Discussed is the case of a 29 year old patient affected by the syndrome in question, which presents the principal clinical characteristics. The patient's general state of health is acceptable, without cardiac or respiratory alterations. The intraoral exploration shows policaries, periodontal disease, persistence of the temporal teeth and ectopic molars. After completing the necessary pre-operatory preparations, the entire odontological treatment was carried out under general aesthesia, due to the patient's total lack of collaboration. PMID:17909511

  17. 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

  18. [Rett syndrome: report of 7 cases].

    PubMed

    Bruck, I; Antoniuk, S A; De Paola, D; Araki, T Y; Flenik, L T

    1990-12-01

    The authors report the clinical and laboratory findings of seven girls with the diagnosis of Rett syndrome seen at the clinic from August 1978 to October 1988. The patient's age varied from two to ten years and they were followed up for 5 years and 9 months in average. The development milestone started to deteriorate between five and twenty-four months. Acquired microcephaly was present in six patients and three cases had hyperventilation. Generalized tonic-clonic seizures were the most frequent type of seizures (6 patients) beginning between one and seven years and effectively controlled with carbamazepine. The EEG's abnormal findings were spike discharges (5 patients) and paroxysmal high-amplitude theta activity (4 patients). The remaining laboratory tests were unremarkable. The pathogenesis of Rett syndrome has not been determined. The clinical evaluation is intended to contribute to the knowledge of that rather uncommon disease. PMID:2094197

  19. 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

  20. 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

  1. Unusual Cases of Hypothenar Hammer Syndrome

    PubMed Central

    Arworn, Supapong; Wisetborisut, Anawat

    2015-01-01

    Objective: Hypothenar hammer syndrome (HHS) is a rare occupational disease. The risk group of HHS is patient whose dominate hand used as a hammer. Our study report unusually cases in Chiang Mai University Hospital. Result: 19 year-old basketball player had right ulnar artery aneurysm for two months. After operation, his symptom was relieved and returned to play basketball again. 65 year-old housekeeper had non-dominated hand ulnar artery aneurysm for two years. After operation she still had hand claudication due to poor run-off vessel. Conclusion: HHS is previously state in risk group. But from our report there was a risk in different occupation. PMID:26421080

  2. Nasogastric tube syndrome: a case report.

    PubMed

    Vielva del Campo, Belén; Moráis Pérez, Darío; Saldaña Garrido, David

    2010-01-01

    Nasogastric tube syndrome (NTS) is an uncommon complication of an indwelling nasogastric tube. Ulceration and infection in the posterior cricoid region causes dysfunction in the abduction of the vocal cords and may seriously compromise patients' airway. This pathology should be considered in patients with prolonged nasogastric intubation who start with moderate pharyngeal pain. We report a case of a 70 year-old woman, admitted to the Neurology department of our centre due to an ischaemic cerebral accident who presented acute dyspnoea requiring emergency tracheotomy following prolonged nasogastric intubation. PMID:20061208

  3. Sturge-Weber syndrome: a case study.

    PubMed

    Garro, Sarah J; Bradshaw, Wanda T

    2014-04-01

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

  4. A curious case of yellow nail syndrome.

    PubMed

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

    2015-01-01

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

  5. Cotard's syndrome: analysis of 100 cases.

    PubMed

    Berrios, G E; Luque, R

    1995-03-01

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

  6. A case of Cotard's syndrome associated with self-starvation.

    PubMed

    Silva, J A; Leong, G B; Weinstock, R; Gonzales, C L

    2000-01-01

    Cotard's syndrome is a psychotic condition often associated with nihilistic delusions. This syndrome can be associated with destructive behaviors directed at the self and/or others. In this report we highlight the psychiatric-legal issues involving a case of Cotard's syndrome associated with self-starvation. PMID:10641937

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

    PubMed

    Celiker, Metin; Tuncer, Mustafa; Sekeralmaz, Ali

    2014-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  9. Asperger syndrome related suicidal behavior: two case studies

    PubMed Central

    Kocourkova, Jana; Dudova, Iva; Koutek, Jiri

    2013-01-01

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

  10. Guillain-Barre syndrome: a case report

    PubMed Central

    Pikula, John R

    1995-01-01

    Guillain-Barre syndrome (GBS) is a complicated degenerative neurological disorder which can be acute or chronic in nature. It is an acquired condition which is characterized by progressive, symmetrical, proximal and distal tingling and weakness. Muscle stretch reflexes are decreased to absent and loss of sensation is common. Etiology remains unclear but pathophysiology includes demyelination of spinal nerve roots. Death is rare. Early diagnosis and prompt referral should occur in severe cases due to the incidence of potential ventilatory failure and cardiovascular instability in some patients. The case of a 37-year-old male presenting to a chiropractic office is described. The importance of a correct diagnosis by the chiropractor and the subsequent management is reviewed.

  11. Breast cancer in a case of Shwachman Diamond syndrome.

    PubMed

    Singh, Sharon A; Vlachos, Adrianna; Morgenstern, Nora J; Ouansafi, Ihsane; Ip, Wan; Rommens, Johanna M; Durie, Peter; Shimamura, Akiko; Lipton, Jeffrey M

    2012-11-01

    Shwachman Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome (IBMFS) characterized by neutropenia, exocrine pancreatic dysfunction, and cancer predisposition. Patients are at risk for myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) but, unlike other IBMFS, there have been no reported cases of solid tumors. We report a novel case of a solid tumor in a patient with SDS and biallelic mutations in the Shwachman Bodian Diamond Syndrome gene (SBDS). Whether the development of breast cancer in this patient is due to SDS or an isolated case due to unknown factors requires further study. PMID:22213587

  12. Pseudo subclavian steal syndrome: Case report

    PubMed Central

    Konda, Sneha; Dayawansa, Samantha; Singel, Soren; Huang, Jason H.

    2015-01-01

    Introduction Vertebrobasilar insufficiency (VBI) is a condition that results from restricted blood flow to the posterior portions of the brain, which are primarily served by the vertebral and basilar arteries. It is the most common cause of vertigo in the elderly and is usually accompanied by impaired vision and sensation. Congenital abnormalities, atherosclerosis, stroke and/or trauma may all lead to decreased vertebrobasilar circulation. A syndrome called Subclavian Steal Syndrome (SSS), which manifests with similar neurological symptoms but with a different pathophysiology, may also cause VBI. Case presentation A middle-aged female presented with gradual onset fainting and vertigo attacks. Cardiac, auditory and autonomic etiologies were investigated and excluded. Clinical findings and presentation were highly suggestive of subclavian steal. However, subsequent CT angiography showed normal subclavian arteries. Instead, findings included a persistent right trigeminal artery (PTA), stenosis of the right proximal internal carotid artery, atresis of the left vertebral artery and distal segment of right vertebral artery, congenitally compromised changes in vertebral circulation (bilateral absence of the posterior communicating arteries (PCOMs)) and an absent anterograde vertebrobasilar circulation. Symptoms resolved after carotid endarterectomy. Discussion Due to the absence of a normally developed posterior circulation, the PTA was the main source of blood supply for the patient. Development of recent artheromatous changes in the right internal carotid artery, however, resulted in decreased blood through PTA, further compromising posterior circulation. This resulted in vertebrobasilar insufficiency, and manifested in symptomology similar to SSS. Conclusions This clinical encounter illustrates the relative contribution of anatomical and vasoocclusive factors in closely mimicking symptoms of subclavian steal syndrome. PMID:26479783

  13. Unilateral external ophthalmoplegia in Miller Fisher syndrome: case report

    PubMed Central

    Smith, Jonathan; Clarke, Lucy; Severn, Philip; Boyce, Robert

    2007-01-01

    Background A description of the diagnostic features of Miller Fisher syndrome. Case presentation The clinical presentation, investigation, and subsequent progress of our patient with clinical unilateral external ophthalmoplegia. Conclusion Our case demonstrates the presentation of clinical unilateral external ophthalmoplegia as part of the full triad of Miller Fisher syndrome. PMID:17439660

  14. Prenatal diagnosis of Robinow syndrome: a case report.

    PubMed

    Castro, Simon; Peraza, Efren; Barraza, Astrid; Zapata, Marco

    2014-06-01

    Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and genital abnormalities. This report describes the sonographic findings in a case of autosomal-dominant Robinow syndrome diagnosed at 23.1 weeks' gestation, in a patient with no history of affected relatives. Here we describe the sonographic characteristics of this syndrome from the diagnosis until birth. The prenatal and postnatal findings, the differential diagnosis, and the prognosis of patients with this syndrome are discussed. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound, 42:297-300, 2014. PMID:24151023

  15. [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. PMID:10437400

  16. [Prune-Belly Syndrome: a case report].

    PubMed

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

    2014-01-01

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

  17. 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. PMID:24931460

  18. A case of acute carpal tunnel syndrome.

    PubMed

    Barbee, George A; Haley, Chelsey L; Berry-Cabán, Cristóbal S

    2016-01-01

    Acute carpal tunnel syndrome is a rare diagnosis in orthopedic medicine. This article describes a 35-year-old man who presented to the ED with complaints of discomfort and paresthesias in his right wrist after a fall, and was subsequently diagnosed with acute carpal tunnel syndrome. The article reviews the pathophysiology of the syndrome and suggested treatment. PMID:26704650

  19. 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

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

    PubMed Central

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

    2014-01-01

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

  1. A case of Seckel syndrome with Tetralogy of Fallot.

    PubMed

    Can, E; Bulbul, A; Uslu, S; Demirin, H; Comert, S; Bolat, F; Nuhoglu, A

    2010-01-01

    Seckel syndrome, also known as Harper's Syndrome and Virchow-Seckel-Syndrome, was first described by Seckel in 1960, and is a rare (<1:10,000 live births) autosomal recessive trait. The syndrome (OMIM 210600) is a form of primordial dwarfism, characterized by severe intrauterine growth restriction, postnatal dwarfism, severe microcephaly with variable mental retardation, facial anomalies and skeletal abnormalities. Cardiac anomalies have been described in only five case. We report a male newborn with typical findings of Seckel sydrome associated with Tetrology of Fallot. This is the first case reported in concomitance with Tetralogy of Fallot, and might be a new finding of the syndrome. We would like to emphasize that clinicians should perform diagnostic interventions for congenital cardiac defects in Seckel Syndrome. PMID:20420029

  2. Bupropion induced serotonin syndrome: a case report.

    PubMed

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

    2010-06-01

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

  3. Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome.

    PubMed

    Deda, G; Caksen, H; Kansu, A; Girgin, N; Suskan, E; Uysal, S; Tükün, A

    2004-01-01

    We report a 26-month-old boy with Angelman syndrome associated with Lennox-Gastaut syndrome, who developed a rash and a persistent toxic hepatitis after lamotrigine was added to valproate therapy. The patient had typical findings of both Angelman and Lennox-Gastaut syndromes. Chromosome analysis performing by FISH analysis showed a deletion in chromosome 15 (q11.2 q11.2). Although some cases of Angelman syndrome associated with Lennox-Gastaut syndrome were reported in the literature, valproate and/or lamotrigine induced toxic hepatitis in Angelman syndrome has hitherto never been described. We conclude that VPA and LTG combination should be given with great caution or avoided in patients with Angelman syndrome. PMID:15517829

  4. Anesthetic management in a case of antiphospholipid antibody syndrome.

    PubMed

    Mikkiliineni, Venkata Rama Rao; Panidapu, Nagarjuna; Parasa, Mrunalini; Shaik, Mastan Saheb

    2015-01-01

    Antiphospholipid antibody (APLA) syndrome is one of the most common thrombocytophilias but, unfortunately, goes unrecognized most often. It is an auto-immune disorder in which thrombotic events and a recurrent fetal loss occur in the presence of antibodies to phospholipids. It is the most common acquired hyper-coagulable state. There is a limited literature on peroperative management of patients with this syndrome. We report a case of APLA syndrome in a parturient due to its rarity and complexity. PMID:26712985

  5. [Reye's syndrome. Clinical and etiopathogenetic aspects. Case contribution].

    PubMed

    Lapetina, F; Teza, F; Mussini, P; Piantoni, G

    1987-01-01

    In this study the authors report a case of Reye syndrome in a three year old patient. The most likely etiopathogenetic mechanisms are analysed and incidence, clinical features and diagnostic criteria are discussed. The possible association between the development of Reye's Syndrome and the use of salicylates, particularly aspirin, during the preceding viral infection (influenza or chicken pox) is emphasized. We underline the importance of early diagnosis that facilitates the successful management of Reye's Syndrome. PMID:3628052

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

    PubMed Central

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

    1992-01-01

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

  7. Sjögren-Larsson syndrome in two brothers: a case report

    PubMed Central

    Moghaddam, Farid Rezaei; Safar, Farid; Soltani, Zahra Reza; Zade, Fatemeh Dehghani

    2009-01-01

    Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. Magnetic resonance imaging showed demyelinating disease in one of these cases. Electrodiagnostic studies were normal in all cases. PMID:19918432

  8. Sjögren-Larsson syndrome in two brothers: a case report.

    PubMed

    Moghaddam, Farid Rezaei; Safar, Farid; Asheghan, Mahsa; Soltani, Zahra Reza; Zade, Fatemeh Dehghani

    2009-01-01

    Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. Magnetic resonance imaging showed demyelinating disease in one of these cases. Electrodiagnostic studies were normal in all cases. PMID:19918432

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

    PubMed Central

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

    2014-01-01

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

  10. 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

  11. Landau-Kleffner syndrome: study of four cases.

    PubMed

    Santos, Lúcia H Coutinho dos; Antoniuk, Sérgio A; Rodrigues, Marcelo; Bruno, Sílvio; Bruck, Isac

    2002-06-01

    We describe four patients with clinical features of Landau-Kleffner syndrome and discuss electroencephalographic features, treatment and prognosis. Anticonvulsants and prednisone were used for treatment with good control of seizures in all cases and a less effect response in acquired aphasia. Further studies are necessary to elucidate the causes and management of this syndrome. PMID:12068352

  12. Gorlin-Goltz syndrome: A series of three cases.

    PubMed

    Patankar, Amod P; Kshirsagar, Rajesh A; Dugal, Arun; Mishra, Akshay; Ram, Hari

    2014-01-01

    The Gorlin-Goltz syndrome (GGS) is also known as nevoid basal cell carcinoma syndrome. It is characterized by multiple keratocystic odontogenic tumors (KCOTs) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. The syndrome may be diagnosed early by a dentist during the routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article reports the series of 3 cases, emphasizing its clinical and radiographic manifestations of GGS. PMID:25937738

  13. Gorlin-Goltz syndrome: A series of three cases

    PubMed Central

    Patankar, Amod P.; Kshirsagar, Rajesh A.; Dugal, Arun; Mishra, Akshay; Ram, Hari

    2014-01-01

    The Gorlin-Goltz syndrome (GGS) is also known as nevoid basal cell carcinoma syndrome. It is characterized by multiple keratocystic odontogenic tumors (KCOTs) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. The syndrome may be diagnosed early by a dentist during the routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article reports the series of 3 cases, emphasizing its clinical and radiographic manifestations of GGS. PMID:25937738

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

    PubMed

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

    2014-01-01

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

  15. [Yunis-Varon syndrome: a case report].

    PubMed

    Elizondo-Dueñaz, Ricardo; Rivera-Silva, Gerardo; Marcos Abdala, Hernán; López-Altamirano, Marcelo; Martínez-Menchaca, Héctor R

    2012-01-01

    In 1980, Yunis-Varon described this disease. Yunis-Varon syndrome is a rare autosomal recessive disease. This cleidocranial dysplasia is characterized by bone and tooth disorders, in addition tends to affect the cardiovascular system and tissues from ectoderm. This report describes the radiologic image of a patient with Yunis-Varon syndrome. PMID:22367312

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

    PubMed

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

    2009-02-01

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

  17. "Benign" shaken baby syndrome. Case report.

    PubMed

    Martínez-Lage, J F; Ros de San Pedro, J; Puche, A; Pérez-Espejo, M A

    2006-08-01

    The authors report an infant with clinical and neuroimaging findings of shaken baby syndrome. The pitfalls encountered in the assessment on the cause of the bilateral frontal and interhemispheric subdural hematomas in this child are also briefly discussed. We have called this condition "benign" shaken baby syndrome and emphasize that not always acute subdural hematomas are of non-accidental nature. PMID:16960646

  18. A Case of Infantile Autism Associated with Down's Syndrome.

    ERIC Educational Resources Information Center

    Wakabayashi, Shinichiro

    1979-01-01

    The article presents a case history of infantile autism associated with Down's syndrome, and discusses the relationship between the two conditions. Among the aspects covered are the child's family history and his developmental and medical history. (DLS)

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

    PubMed

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

    2012-01-01

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

  20. [A case of epilepsy with ring chromosome 20 syndrome].

    PubMed

    Tanaka, Atsuko; Ohtake, Michiko; Yoshimi, Tamami; Suzuki, Tsuneo; Abe, Ikuro; Iwasaki, Hiroshi; Sue, Hironari; Kaito, Ken

    2012-09-01

    A case of epilepsy associated with ring chromosome 20 [r(20)] syndrome was first reported in 1972. Relatively few cases of [r(20)] syndrome have been reported. We report here a middle-aged female with this syndrome. She had two types of seizures characterized by complex partial seizure with complex motor automatism mainly occurred while asleep and episodes of fluctuating consciousness (non-convulsive status epilepticus) lasting 40-60 min. The ictal electroencephalography (EEG) findings of the latter showed almost continuous diffuse spike and wave complexes or high voltage slow waves. The interictal EEG findings showed spike or sharp waves located in bilateral frontal regions or 3-6Hz diffuse high voltage slow waves intermingled with spikes in left posterior areas. We reviewed and discussed the characteristics of [r(20)] syndrome reported in the literature, intractable seizures, behavioral problems and some degree of mental retardation or dysmorphism, especially variable EEG findings characterized this syndrome. PMID:23157113

  1. 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

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

    PubMed Central

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

    2014-01-01

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

  3. A Case of the Nutcracker Syndrome Developed after Delivery

    PubMed Central

    Tsumura, Koji; Yoshida, Kanae; Yamamoto, Sachi

    2014-01-01

    We report a case of nutcracker syndrome that developed after delivery. A 32-year-old woman visited our clinic complaining of gross hematuria 4 months after delivery. Urethrocystoscopic examination failed to show hematuria coming from the ureteral orifice; however, enhanced computed tomography revealed the compression of the left renal vein between the aorta and superior mesenteric artery. Therefore, we diagnosed her with nutcracker syndrome and conservatively observed her. The macrohematuria disappeared by itself after 1 month. This is the first report to describe a case of nutcracker syndrome that developed after delivery. PMID:25140272

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

    PubMed Central

    Firouzi-Marani, Shahram; Khoshbin, Masoud

    2014-01-01

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

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

    PubMed

    Taheri, Arman; Firouzi-Marani, Shahram; Khoshbin, Masoud

    2014-10-01

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

  6. Dobrin syndrome: A case report and review of the literature

    PubMed Central

    Al Qumaizi, K. I.; Halim, K.; Brekeit, K. A.

    2016-01-01

    Dobrin syndrome or tubulointerstitial nephritis and uveitis syndrome is a rare disease with excellent prognosis. We report a 60-year-old male of Indian origin who presented with acute interstitial nephritis (AIN) and unilateral anterior immune-mediated uveitis. The syndrome has been reported sporadically. This is only the third case from a patient of Indian origin. We highlight this case and evaluate the long-term use of nonsteroidal anti-inflammatory drug-induced AIN and uveitis as a potential causative factor. PMID:26937077

  7. [Doege-Potter syndrome. about one new case].

    PubMed

    Herrak, L; Mricha, M; Berri, K; El Fassy Fihry, M T; Benosmane, A

    2012-06-01

    Syndrome Doege-Potter is a paraneoplastic syndrome in which hypoglycemia is the result of tumors producing insulin growth factor-like (IGF-II) it is most often solitary fibrous tumor of the pleura (TFSP). These are rare and may be discovered incidentally, during non-specific respiratory symptoms or during hypoglycemia. Hypoglycemia occurs in tumors of large volume and it disappears after surgery, which is the treatment of choice for a permanent cure in most cases. We present a case of Doege-Potter syndrome whose interest is to consider the TFSP as a cause of hypoglycemia in patients with pleural tumors. PMID:22206790

  8. Sjögren’s Syndrome: A Case Study

    PubMed Central

    Jadhav, Santosh; Jadhav, Abhijeet; Thopte, Shameeka; Marathe, Swati; Vhathakar, Prakash; Chivte, Pankaj; Jamkhande, Amol

    2015-01-01

    Sjögren syndrome is chronic, systemic autoimmune disease characterized by lymphocytic infiltration of the exocrine glands. It is an elaborate involvement of the lacrimal and salivary glands, which eventually lead to keratoconjunctivitis sicca and xerostomia. It may occur in two forms - Primary and secondary, which is associated with another autoimmune disease, most commonly rheumatoid arthritis. Numerous criteria were proposed for diagnosis of Sjögren syndrome. Most widely accepted are American and European group developed international classification criteria for Sjögrens syndrome. These criteria include ocular symptoms, oral symptoms, ocular signs, histopathology, salivary gland involvement and sialography. The classification requires four of the six items, one of which must be positive minor salivary gland biopsy or a positive antibody test. Early diagnosis is important to prevent further complications. The aim of this paper is to emphasis on oral changes, advanced diagnosis, and management of Sjögren’s syndrome. PMID:25878484

  9. The retinal ciliopathies.

    PubMed

    Adams, N A; Awadein, Ahmed; Toma, Hassanain S

    2007-09-01

    While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes. Systemic findings include neurosensory hearing loss, developmental delay, situs-inversus, infertility, disorders of limb and digit development, obesity, kidney disease, liver disease, and respiratory disease. The concept of "retinal ciliopathies" brings to attention the importance of further molecular analysis of this organelle as well as provides a potential common target for therapies for these disorders. The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, Laurence-Moon syndrome, McKusick-Kaufman syndrome, and Biemond syndrome. Mutations for these disorders have been found in retinitis pigmentosa-1 (RP1), retinitis pigmentosa GTPase regulator (RPGR), retinitis pigmentosa GTPase regulator interacting protein (RPGR-IP), as well as the Usher, Bardet-Biedl, and nephronophthisis genes. Other systemic disorders associated with retinal degenerations that may also involve ciliary abnormalities include: Alstrom, Edwards-Sethi, Ellis-van Creveld, Jeune, Meckel-Gruber, Orofaciodigital Type 9, and Gurrieri syndromes. Understanding these conditions as ciliopathies may help the ophthalmologist to recognize associations between seemingly unrelated diseases and have a high degree of suspicion that a systemic finding may be present. PMID:17896309

  10. Gastrointestinal stromal tumor with nephrotic syndrome as a paraneoplastic syndrome: a case report

    PubMed Central

    2014-01-01

    Introduction Paraneoplastic syndromes are disorders associated with clinical signs and symptoms caused by substances produced by malignant disease and are not directly related to the physical effects of a primary or metastatic tumor. We describe a patient with gastrointestinal stromal tumor of the stomach accompanied by nephrotic syndrome as paraneoplastic syndrome in whom symptomatic treatment was ineffective. Nephrotic syndrome caused by gastrointestinal stromal tumors is quite rare, and to the best of our knowledge this is the first time that such a case has been documented. Case presentation We describe a 69-year-old Asian woman with a gastrointestinal stromal tumor of the stomach accompanied by paraneoplastic syndrome. The patient had severe hypoalbuminemia and proteinuria, which were apparently attributed to a gastrointestinal stromal tumor. After preoperative treatment for hypoalbuminemia, the tumor was resected and nephrotic syndrome improved. Two years after her operation, she is still alive with neither tumor recurrence nor nephrotic syndrome. Conclusion Patients with refractory nephrotic syndrome caused by a malignant tumor should be treated aggressively, even if they are in poor general condition. Otherwise, the opportunity for potentially curative surgery may be missed. PMID:24669929

  11. Another cause of vaccine encephalopathy: a case of Angelman syndrome.

    PubMed

    Novy, Jan; Catarino, Claudia B; Chinthapalli, Krishna; Smith, Shelagh M; Clayton-Smith, Jill; Hennekam, Raoul C M; Hammond, Peter; Sisodiya, Sanjay M

    2012-05-01

    Dravet syndrome has been found recently as an important underlying condition in cases of alleged vaccine encephalopathy after pertussis vaccination, where vaccination seemed to have precipitated the occurrence of the disease without modifying the long-term course. We report on a patient diagnosed with Angelman syndrome in her fifth decade, in whom the intellectual disability and epilepsy had been assumed to be caused by a vaccine encephalopathy following smallpox vaccination. Clinical features of Angelman syndrome had faded away. The history of the present patient suggests that genetic conditions other than Dravet syndrome can be associated with an alleged vaccine encephalopathy. A history of vaccine encephalopathy is rare among patients with learning disability and refractory epilepsy (1.4% in our cohort), but it should lead to consideration of a comprehensive genetic work-up if Dravet syndrome is excluded. The early history of the patient, when available, should guide the investigations. Medico-legal aspects are also discussed. PMID:22342448

  12. 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

  13. 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

  14. Rett syndrome--a rare and often misdiagnosed syndrome: case report.

    PubMed

    Buccino, M A; Weddell, J A

    1989-06-01

    Rett syndrome is a recently discovered, progressive neurological disorder that occurs exclusively in females early in life. Females with this rare and often misdiagnosed clinical entity have unusual but distinctive oral/digital habits. Dentists aware of Rett syndrome and its distinct manifestations will be able to aid in early diagnosis and treatment of those afflicted. A case report of a 4-year, 3-month-old white female with Rett syndrome and review of pertinent literature are presented. The previously reported oral/digital habits and oral manifestations of Rett syndrome are listed along with other unreported oral findings. Many of these oral manifestations are not unique to Rett syndrome. There is a likelihood that they may be related to trauma secondary to the excessive oral/digital habits, poor gait, and seizure activity. PMID:2668902

  15. 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

  16. 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. PMID:23972541

  17. Nevoid Basal cell carcinoma syndrome: a case report and review.

    PubMed

    Bala Subramanyam, S; Naga Sujata, D; Sridhar, K; Pushpanjali, M

    2015-03-01

    Nevoid basal cell carcinoma syndrome, a rare autosomal dominant disorder, comprises of a number of abnormalities such as multiple nevoid basal cell carcinomas, skeletal abnormalities and multiple keratocystic odontogenic tumors. Diagnosis may be difficult because of the variability of expressivity and different ages of onset for different traits of this disorder. The dental clinician may be the first to encounter and identify this syndrome, when the multiple cysts like radiolucencies are discovered on panoramic view. This article reports a case of Nevoid basal cell carcinoma syndrome and provides an overview on diagnosis and management. PMID:25838663

  18. Dual intersection syndrome of the forearm: a case report

    PubMed Central

    Zhari, Bouchra; Edderai, Meryem; Boumdine, Hassan; Amil, Touriya; En-nouali, Hassan

    2015-01-01

    The intersection syndrome, described since the 19th century, is an uncommon disorder associated with rubbing at the crossing point between the first dorsal compartment muscles and the radial wrist extensor muscles. Imaging modalities used to diagnosis this syndrome includes ultrasonography and magnetic resonance imaging. We reported a case of a 60-year-old man presented to our formation with painful swelling on the dorsum of the wrist and forearm. An MRI and an ultrasound were performed, and objectified a dual cross syndrome of the forearm. PMID:26587172

  19. Severe cerebral calcification in a case of LEOPARD syndrome.

    PubMed

    Niwa, Atsushi; Naito, Yutaka; Kuzuhara, Shigeki

    2008-01-01

    We report severe brain calcification in a case of LEOPARD syndrome that has not been reported in the literature. A 53-year-old Japanese man presented with generalized lentigines, arrhythmia, gonadal hypoplasia, endocrine abnormality, mental retardation and skeletal abnormalities, and was consequently diagnosed as LEOPARD syndrome. Brain computed tomography demonstrated surprisingly dense and symmetric calcifications in the cerebellar dentate nuclei, cerebral basal ganglia, thalamus, and cerebral white matter. It may be an incidental idiopathic calcification. Alternatively it may be a rare clinical manifestation of LEOPARD syndrome. PMID:18981639

  20. Dorsal dimelia in patau syndrome: a case report.

    PubMed

    Fattah, A; Pickford, M A

    2007-10-01

    We present a case of a child with Patau syndrome that exhibits features consistent with congenital palmar nail syndrome. The literature is reviewed and evidence presented to demonstrate that this is a defect in the dorso-ventral patterning of the limb and thus a form of dorsal dimelia. In order to differentiate this from other instances of ectopic nail tissue we suggest congenital palmar nail syndrome should be more specifically defined as duplicated nails, absent flexion creases, non-glabrous skin on the palmar surface, reduced movement at the interphalangeal joints and hypoplastic terminal phalanges. PMID:17950216

  1. Reversible posterior leukoencephalopathy syndrome: report of three cases.

    PubMed

    Ozyurek, Hamit; Oguz, Gulben; Ozen, Seza; Akyuz, Canan; Karli Oguz, Kader; Anlar, Banu; Aysun, Sabiha

    2005-12-01

    Reversible posterior leukoencephalopathy syndrome is characterized clinically by headache, abnormalities of mental status and visual perception, and seizures. Despite its diverse causes, common precipitating factors are defined as abrupt elevations of blood pressure, renal decompensation, fluid retention, and immunosuppressive therapy. We report three children with reversible posterior leukoencephalopathy syndrome presenting with generalized seizures and headache. The causes of reversible posterior leukoencephalopathy syndrome were considered to be acute hypertension and immunosuppressive therapy in case 1 with systemic lupus erythematosus, chemotherapy (vincristine and/or actinomycin-D) and hyponatremia in case 2, and acute hypertension in case 3, admitted with a familial Mediterranean fever attack. In light of these cases, we review the literature for the etiology, clinical and laboratory findings, and pathogenetic mechanisms of the disease. PMID:16417849

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

    PubMed

    Botha, Sarel J P; Bütow, Kurt-W

    2015-01-01

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

  3. Numb chin syndrome: a case series and discussion.

    PubMed

    Divya, K S; Moran, N A; Atkin, P A

    2010-02-27

    Numb chin syndrome is a sensory neuropathy in the distribution of the mental or inferior alveolar nerve. It may occur in benign disease, both systemic and dental in origin. It is also an under appreciated sign of malignancy. We present six cases from our experience highlighting the varied presentation and briefly review the aetiology, pathogenesis and management of numb chin syndrome and stress its importance with regards to the association with malignant disease. PMID:20186196

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

    PubMed Central

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

    2014-01-01

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

  5. Histiocytoid Sweet syndrome treated with azathioprine: a case report.

    PubMed

    Miller, Jonathan; Lee, Nicole; Sami, Naveed

    2015-01-01

    Histiocytoid Sweet syndrome (HSS) is a rare histologic variation of Sweet syndrome (SS) predominantly exhibiting mononuclear histiocytoid cells instead of neutrophils. We report a 22-year-old woman with HSS, who, after minimal improvement with colchicine and dapsone, had significant improvement of her cutaneous eruption and systemic symptoms following empiric treatment with azathioprine. Since azathioprine has historically been known to cause SS, this case highlights a previously unreported treatment response for the histiocytoid variant. PMID:26436977

  6. Antenatal diagnosis of Seckel Syndrome: a rare case report

    PubMed Central

    Vascone, Carmine; Di Meglio, Filippo; Di Meglio, Letizia; Turco, Luigi Carlo Lo; Vitale, Salvatore Giovanni; Cignini, Pietro; Marilli, Ilaria; Rapisarda, Agnese Maria Chiara; Valenti, Gaetano; Cianci, Stefano

    2014-01-01

    Introduction Seckel Syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and the absence of visceral malformations. Case report we observed sonographic features of a Seckel Syndrome, in a patient during the 24th week of pregnancy. Her family history was negative for malformation and chromosomal disorders. The diagnosis was later confirmed by molecular tests. Conclusion diagnosis should be made only by expert operators. Karyotype analysis is essential to confirm the diagnosis. PMID:26266004

  7. 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

  8. [Allopurinol hypersensitivity syndrome. A report of two cases].

    PubMed

    Rodríguez-Arámbula, Adriana; Arenas-Velázquez, Elsa; Castanedo-Cázares, Juan Pablo; Hernández-Blanco, Diana; Oros-Ovalle, Cuauhtémoc; Torres-Álvarez, Bertha

    2016-01-01

    Patients in treatment with allopurinol are in risk of having life threatening adverse reactions particularly at the beginning of the treatment. Two percent of the patients prescribed with this drug have associated severe cutaneous adverse reactions. We present two cases of allopurinol hypersensitivity syndrome in mexican patients in which asymptomatic hyperuricemia was the indication to its use. The general physician and the specialist must be alert of this syndrome that causes elevate morbidity and mortality. PMID:26960055

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

    PubMed

    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

  10. 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

  11. Postpolio Syndrome: Using a Single Case Study

    ERIC Educational Resources Information Center

    Obringer, S. John; Elrod, G. Franklin

    2004-01-01

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

  12. Ehlers Danlos Syndrome – A Case Report

    PubMed Central

    Kaurani, Pragati; Marwah, Nikhil; Kaurani, Mayank; Padiyar, Narendra

    2014-01-01

    Ehlers Danlos syndrome (EDS) is a hereditary collagen disorder which primarily manifests in the skin and joints. Clinically, it is characterized by hyperelasticity of skin and joint hypermobility. This article has described a rare condition seen in a 10-year-old boy who was diagnosed with EDS, based on the clinical, radiographic and histological findings. PMID:24783151

  13. Churg-Strauss syndrome: a case report*

    PubMed Central

    Fernandes, Gabriel Lacerda; Teixeira, Arivaldo Araújo; Antón, Ana Graziela Santana; Reis, Alan Timóteo Rodrigues; de Freitas, Ana Carolina Rezende; Basílio, Dunya Bachour

    2014-01-01

    Churg-Strauss syndrome is a rare systemic disease primarily characterized by hypereosinophilia, asthma and vasculitis. The lung is the organ most frequently involved. In the present report, the authors describe a relatively rare finding in this disease - the presence of a pulmonary nodule -, while recalling the main radiological findings and the most relevant differential diagnoses. PMID:25741095

  14. 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.…

  15. Goltz syndrome: report of two severe cases

    PubMed Central

    Scott, Riddell W; Pivnick, Eniko K; Dowell, Stacy H; Eubanks, James W; Huang, Eunice Y; Van den Veyver, Ignatia B; Wang, Xiaoling

    2009-01-01

    Goltz syndrome is a rare, X-linked dominant congenital disorder with abnormalities in derivatives of each of the three embryonic germ layers. Its clinical phenotype varies widely, ranging from isolated skin defects to absence of limbs and/or organs. The rarity and wide range of presentation contribute to delayed or missed diagnosis. PMID:21686566

  16. 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.…

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

    PubMed

    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

  18. 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

  19. De Clerambault Syndrome (Erotomania): A Review and Case Presentation

    PubMed Central

    Jordan, Harold W.; Howe, Gray

    1980-01-01

    A syndrome which was first described by G.G. De Clerambault in 1885 is reviewed and a case is presented. Popularly called erotomania, the syndrome is characterized by the delusional idea, usually in a young woman, that a man whom she considers to be of higher social and/or professional standing is in love with her. She develops an elaborate delusional process about this man, his love for her, his pursuit of her, and her inability to escape his “affectionate clutches.” This syndrome may persist for a period of a few weeks to a few months in the recurrent form and be replaced by a similar delusion about another man. In the fixed form, which is the example of the case being presented here, it may persist for several years. The patient presented here has experienced this syndrome for eight years; there are reports in the literature of persons maintaining the syndrome for longer than 25 years. Patients with this syndrome may be diagnosed as having paranoid vera or other forms of paranoid disorder, or as paranoid schizophrenic. In light of the overwhelming nature of the delusional process affecting this patient's total life experience with marked delusions of persecution, grandeur, jealously, and self-depreciation as well as ideas of reference (illusions), and agitated and sometimes bizarre behavior, it seems quite appropriate that her diagnosis may be termed schizophrenic reaction, paranoid type. The literature is surveyed in depth and the case is presented in sequential detail. PMID:6999163

  20. Case of vemurafenib-induced Sweet's syndrome.

    PubMed

    Yorio, Jeffrey T; Mays, Steven R; Ciurea, Ana M; Cohen, Philip R; Wang, Wei-Lien; Hwu, Wen-Jen; Gonzalez, Nydia; Richard, Jessica L; Kim, Kevin B

    2014-09-01

    Vemurafenib is a targeted therapy that has become standard treatment for patients with advanced melanoma with a V600E BRAF mutation. It has been associated with frequent skin toxicity, including photosensitivity, rash and squamous cell carcinomas. We present an 83-year-old woman with an advanced V600E BRAF-mutant melanoma who developed a severe skin rash and fatigue after taking vemurafenib. The dose was reduced from 960 to 720 to 480 mg twice a day; however, she was subsequently admitted to the hospital with fever, chills, fatigue, confusion and a diffuse skin eruption. She then developed hypoxia and acute renal failure that required hemodialysis. A biopsy of her skin lesions revealed a neutrophilic dermatitis with papillary dermal edema, consistent with Sweet's syndrome. Her symptoms resolved upon discontinuation of vemurafenib and treatment with prednisone. This constellation of symptoms and clinical course are consistent with drug-induced Sweet's syndrome caused by vemurafenib. PMID:24617955

  1. 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

  2. Psoriasis in hyper IgE syndrome – a case report

    PubMed Central

    Ghaffari, Javad; Abedian- Kenari, Saeed; Ghasemi, Maryam; Gohardehi, Farzad

    2013-01-01

    Background: Hyper IgE syndrome (HIES) is a rare primary immune deficiency, described as Job`s syndrome characterized by increased serum levels of IgE, eczema, recurrent cutaneous and pulmonary infections. In this paper, we presented a case of Hyper IgE syndrome. Case Presentation: A 16-year-old Iranian boy presented with a one year history of skin lesions in knees and elbows was diagnosed of psoriasis disease. He had a history of recurrent infections including otitis media, pneumonia, diarrea and skin infection. Laboratory results showed increased level of total IgE and normal in other immunoglobulin. Histologic finding showed hyperkeratosis, parakeratosis of acanthotic epidermis with regular elongation of rete ridges diagnose psoriasis disorder. Conclusion: In conclusion, this is the first case of hyper IgE patient with psoriasis disorder. We addressed the important laboratory findings and actual theories explaining possible association between hyper IgE immunoglobulinemia and psoriasis disorder. PMID:24009971

  3. Waardenburg Syndrome type 1: A case report.

    PubMed

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

    2011-01-01

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

  4. 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

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

    PubMed

    Fujiwara, Keishi; 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

  6. 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

  7. An unusual case of Gitelman's syndrome with hypercalcemia.

    PubMed

    Wen, Yao-Ko

    2012-01-01

    We reported a case of a 41-year-old woman who had been diagnosed with Gitelman's syndrome since the age of 31 years. The diagnosis was established by the typical biochemical pictures including renal wasting hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. She had normal blood pressure and had never used diuretics. She had a sibling with similar syndrome. The patient was treated with oral potassium and magnesium supplementation. She began to have hypercalcemia at the age of 39 years. The diagnostic approach to hypercalcemia became more complicated because of normal parathyroid hormone levels and underlying hypocalciuria due to Gitelman's syndrome. Thorough evaluation eventually identified primary hyperparathyroidism as the cause of hypercalcemia. To our best knowledge, this is the first report of combined occurrence of Gitelman's syndrome and primary hyperparathyroidism in the literature. PMID:22296209

  8. Early diagnosis of Gorlin-Goltz syndrome: case report

    PubMed Central

    2011-01-01

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

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

    PubMed

    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

  10. 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

  11. Piriformis syndrome: a case with non-discogenic sciatalgia.

    PubMed

    Parlak, Adem; Aytekin, Aykut; Develi, Sedat; Ekinci, Safak

    2014-01-01

    Piriformis syndrome is a clinical picture of non-discogenic sciatica caused by compression of the sciatic nerve by the piriformis muscle. It has variable etiologies and the patho-physiology is not fully understood. The major etiology was known to be the spasm, edema and inflammation of the piriformis muscle and sciatic nerve compression of the muscle later on. Patients can be diagnosed immediately with a comprehensive clinical examination and early diagnosis makes the treatment much easier. Diagnosis of the piriformis syndrome, a very rare cause of low back pain, first requires that this syndrome is remembered, and then a differential diagnosis should be performed. A case of piriformis syndrome diagnosed in a patient who presented with low back pain is reported in this study. PMID:24535806

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

    PubMed

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

    2016-02-01

    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. Orv. Hetil., 2016, 157(7), 275-278. PMID:26853729

  13. Histopathologic features in a case of hyperimmunoglobulinemia D syndrome

    PubMed Central

    Pace, Sarah; Bingham, Jonathan; Royer, Michael

    2015-01-01

    We describe a case of Mevalonate Kinase Deficiency (MKD) also known as Hyperimmunoglobulinemia D Syndrome (HIDS) presenting as a Sweet-like syndrome in a 5-week-old with multiple erythematous plaques, fever, aseptic meningitis, and bronchiolitis. The locations of the predominant plaques were periumbilical and periocular, which originally prompted concern for omphalitis and preseptal cellulitis. Histopathology demonstrated a neutrophilic and histiocytic dermatitis with prominent squamous syringometaplasia and leukocytoclasis in the absence of a vasculitis. This case is reported here due to the unique findings of a prominent histiocytic component in addition to the typically described neutrophilic infiltrate. PMID:26904447

  14. Nephrotic syndrome and angiotropic lymphoma report of a case.

    PubMed

    Cossu, Antonio; Deiana, Angelo; Lissia, Amelia; Satta, Andrea; Cossu, Maria; Dedola, Maria Filomena; Bella, Michele A; Palmieri, Giuseppe; Tanda, Francesco

    2004-01-01

    A case of angiotropic lymphoma involving renal glomeruli and interstitial vessels associated with nephrotic syndrome and with minor lesions in the glomerular basal membrane is reported. A 56-year-old woman had fever, weakness and clinical findings of a nephrotic syndrome with normal renal function. Renal biopsy revealed that the glomeruli were infiltrated by neoplastic lymphoid cells positive for CD20 and CD45; the glomerular basement membranes showed a pattern of minimal change disease. This case and our review of the literature suggest that the rare association of intravascular lymphoma and glomerular disease is more than coincidental. PMID:15656340

  15. [Marfan syndrome in pregnancy: presentation of four cases and discussion].

    PubMed

    Tzialidou, I; Oehler, K; Scharf, A; Staboulidou, I; Westhoff-Bleck, M; Hillemanns, P; Günter, H H

    2007-02-01

    The coincidence of Marfan syndrome and pregnancy means a high risk for mother and child, as it is associated with cardiovascular and obstetric complications. We report our experience of four pregnancies with the Marfan syndrome. The course of pregnancy, the peripartum management and both the maternal and neonatal outcomes of four pregnant women with the Marfan syndrome, who were treated in our department between 1995 and 2005, were retrospectively analysed. The pregnancies of two women were complicated by premature rupture of membranes (36 (th) gestational week) and premature uterine contractions with cervical incompetence (30 (th) gestational week), respectively. One patient developed class 3 (NYHA) heart failure in the 3 (rd) trimenon. Two out of four women had mild cardiovascular disease and could deliver vaginally. In the other two cases a primary Caesarean section was performed at the 36 (th) week of gestation because of severe cardiovascular morbidity. No patient had a progressive aortic dilatation, dissection or rupture. The neonatal outcome was uneventful in all cases. Three newborns underwent a genetic evaluation for the Marfan syndrome, in two of them mutations in the fibrillin 1 gene were detected. Women with the Marfan syndrome should be counselled pre-conception and observed by an interdisciplinary team during pregnancy. If the aortic root diameter is < 40 mm, without progression in pregnancy, and in the absence of severe valve insufficiency, then pregnancy is in most cases well tolerated and vaginal delivery can be performed. PMID:17327991

  16. Anton's syndrome due to cerebrovascular disease: a case report

    PubMed Central

    2009-01-01

    Introduction Anton's syndrome describes the condition in which patients deny their blindness despite objective evidence of visual loss, and moreover confabulate to support their stance. It is a rare extension of cortical blindness in which, in addition to the injury to the occipital cortex, other cortical centres are also affected, with patients typically behaving as if they were sighted. Case presentation We present a case report of an 83-year-old white woman with cortical blindness as a result of bilateral occipital lobe infarcts. Despite her obvious blindness, illustrated by her walking into objects, the patient expressed denial of visual loss and demonstrated confabulation in her accounts of her surroundings, consistent with a diagnosis of Anton's syndrome. Conclusions A suspicion of cortical blindness and Anton's syndrome should be considered in patients with atypical visual loss and evidence of occipital lobe injury. Cerebrovascular disease is the most common cause of Anton's syndrome, as in our patient. However, any condition that may result in cortical blindness can potentially lead to Anton's syndrome. Recovery of visual function will depend on the underlying aetiology, with cases due to occipital lobe infarction after cerebrovascular events being less likely to result in complete recovery. Management in these circumstances should accordingly focus on secondary prevention and rehabilitation. PMID:20226004

  17. Reported Cases of HPS (Hantavirus Pulmonary Syndrome)

    MedlinePLUS

    ... page: About CDC.gov . Hantavirus Share Compartir Reported Cases of HPS HPS in the United States Through ... have resulted in death. HPS in the U.S. Case Maps/Charts State of Exposure Reporting State State ...

  18. Maternal phenylketonuria syndrome and case management implications.

    PubMed

    Gambol, Patricia J

    2007-04-01

    Well-established dietary protocols have prevented mental retardation for infants born with phenylketonuria (PKU). Dietary protocols for managing females with PKU in their reproductive years exist but are not followed by most of them. Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as mental retardation, heart defects, and other serious congenital anomalies (e.g., orofacial clefting and bladder exstrophy)--a condition known as maternal PKU syndrome. The focus of this article is to review the pathophysiology, associated developmental issues, and existing management protocols used to manage these two separate but highly connected disorders. PMID:17382850

  19. [Kaino-sinus syndrome: a case report].

    PubMed

    Wang, Yan; Zhang, Qingquan; Zhu, Yuhong

    2014-03-01

    Kaino-sinus syndrome is one new complication of endoscopic sinus surgery. The patient had an operation of endoscopic surgery, because he was suffered from an illness of frontal nasal inverted papilloma again. After operation he was suffering pain in left epicanthal folds and frontal part, and had dry scab in nasal cavity when he breathed cold air. The symptoms could relieve by blocking prenaris. We found he had a big aperture of frontal sinus and dry scab in nasal endoscopic examination. His symptoms disappeared after cleaning and washing accessory nasal cavity by salt water. PMID:25185297

  20. Asperger's syndrome and aminoaciduria: a case example.

    PubMed

    Miles, S W; Capelle, P

    1987-03-01

    An 18-year-old male, originally diagnosed as suffering from infantile autism but with a developmental history and clinical picture in keeping with Asperger's syndrome, and showing current signs of impairment of higher cerebral functioning, is presented. The subject and several males of his family present behavioural disturbances of an enduring type. An aminoaciduria was discovered in the subject and his father. A possible relationship between the metabolic disturbance and the neurological and behavioural disturbance is raised. Mechanisms for this relationship are discussed, including sporadic hyperlysinaemia. PMID:3664113

  1. [Androgen insensitivity syndrome. Clinical and endocrinologic study of 40 cases].

    PubMed

    Baron, J

    1993-01-01

    It was found on the basis of observation of 40 patients with androgen insensitivity syndrome carried out during over 25 years that in patients with female phenotype and male genotype the mean blood plasma level of testosterone was 6.4 +/- 1.6 ng/ml, corresponding to that characteristic for healthy males. In classical form of the syndrome there is absent or very scarce pubic hair in 100% of cases, normal development of mammary glands in 97% of cases, blind vagina of mean length 5.0 +/- 2.3 cm in 97% of cases and unilateral or bilateral inguinal hernia in 30.3% of cases. In the incomplete form of androgen insensitivity normal development of mammary glands occurs in 71.4%, pubic hair in 57.1%, complete absence of vagina in 57.1%, blind vagina of mean length 2.5 cm in 42.9%, inguinal hernia in 71.4% and hypertrophy of clitoris of mean length 2.0 +/- 1.0 cm in 57.1% of cases, what distinguishes this form of the syndrome from classical form. In 85.7% of cases of incomplete form surgery for inguinal hernia is necessary; in 42.9% artificial vagina has to be created. Among the patients with the syndrome, classical form occurs in 82.5% and incomplete form in 17.5% of cases. Distinguishing between the two forms is fully justified because of clinical and therapeutic reasons. Though malignancy of the gonads appears infrequently among the patients with the insensitivity syndrome, but periodical control of the state of testes, especially at adulthood is necessary. Castration should be avoided before the patient attains full sexual maturity. Normal value of testosterone level, characteristic for men, suggests that lack of sensitivity to androgens of the target cells is the main cause of the disease. PMID:8055789

  2. 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

  3. A case study of Cotard's syndrome: stages and diagnosis.

    PubMed

    Yamada, K; Katsuragi, S; Fujii, I

    1999-11-01

    We report the case of a middle-aged woman with Cotard's syndrome in whom clinical course was evaluated according to stages. Longitudinally this syndrome seems to have three stages, namely germination, blooming and chronic (depressive type/paranoid type) stages. In this patient, the chronic stage, primarily characterized by delusions, was observed without raising suspicion of affective disorder. She did not respond to any pharmacotherapies, but improved dramatically after ECT performed during the chronic stage. Although symptoms change according to the stage, most cases of Cotard's syndrome may belong to the affective spectrum and are probably best treated with ECT, as documented here. In evaluation of the mode of separation between emotion and cognition during follow-up it is important to consider stage and diagnosis. PMID:10563458

  4. [Perioral myoclonia syndrome with absences: about 2 cases].

    PubMed

    Bourcy, E; Leroy, P; Dubru, J M

    2013-10-01

    Perioral myoclonia with absences (POMA) was first described in 1994 by CP Panayotopoulos who identified 6 cases that did not fit with the classical syndrome of absence epilepsy in children and whose predominant symptom during the absence seizure was the occurrence of myoclonia of perioral muscles. The POMA belongs to the group of generalized idiopathic epilepsies. It begins in childhood and there is a female predominance. It may be accompanied by tonic-clonic generalized seizures as well as absence status epilepticus. It has the EEG characteristics of typical absence seizures and therefore remains currently considered as such. The clinical manifestations of POMA are often misdiagnosed as focal motor seizures. This syndrome can be pharmacoresistant and is not likely to regress spontaneously. We present two clinical observations of perioral myoclonia with absences. The first case illustrates the typical electro-clinical features of this syndrome while the second illustrates its pharmacoresistance. PMID:24298729

  5. 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

  6. Lemierre's Syndrome: A Rare Case of Pulmonic Valve Vegetation

    PubMed Central

    Kwan, Clara; Mastrine, Lou; Moskovits, Manfred

    2013-01-01

    Lemierre's syndrome is an uncommon complication of pharyngitis commonly associated with an anaerobic gram negative bacterium, Fusobacterium necrophorum. The syndrome usually affects young healthy adults with the mean age of 20 and is characterized by recent pharyngitis followed by ipsilateral internal jugular vein thrombosis and septic thromboembolism. The treatment is at least 6 weeks of antibiotics; the role of anticoagulation is unclear. The following presentation is a case of Lemierre's syndrome in a 23-year-old healthy individual who is infected by a rare species: Fusobacterium nucleatum. The case is complicated by septic emboli to the lungs and impressive seeding vegetation to the right ventricular outflow tract (RVOT) at the pulmonic valve of the heart. PMID:23573433

  7. 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

  8. 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

  9. An Unusual Case of Erotomania and Delusional Misidentification Syndrome.

    PubMed

    Granstein, Justin; Strimbu, Kyle; Francois, Dimitry; Kahn, David A

    2015-07-01

    Delusional misidentification syndromes and erotomania are rare entities, each with several distinct manifestations and no clearly defined treatment regimen. Here we expand upon an earlier literature review and describe the case of a 40-year-old woman with a history of bipolar I disorder who presented after an extended period of medication nonadherence with symptoms consistent with both of these conditions; she believed that the staff on the unit were in fact disguised celebrities and fictional characters, and she claimed to be married to a famous singer. The exact relationship of these symptoms (and indeed, even their basic etiologies) remains unclear; however, both delusional syndromes resolved with a combination of risperidone and lithium therapy. Although earlier literature has suggested pimozide as the most effective agent for treating delusional syndromes, given the more favorable side-effect profile of atypical versus typical antipsychotics, this case suggests a role for risperidone as a first-line treatment in such situations. PMID:26164056

  10. Early-onset Moyamoya syndrome in a patient with Down syndrome: case report and review of the literature.

    PubMed

    Dai, A I; Shaikh, Z A; Cohen, M E

    2000-10-01

    Moyamoya disease is a chronic occlusive cerebrovascular disorder. It can occur as a primary disease or as a syndrome associated with a variety of conditions. Usually it takes 1 to 2 years to develop a classic moyamoya pattern. We report a 20-month-old girl with Down syndrome and moyamoya syndrome who presented with seizure and hemiparesis. To our knowledge, this is the youngest case reported with moyamoya syndrome and Down syndrome. The prognosis and current treatment of moyamoya syndrome and its relation to Down syndrome are reviewed. There is some reason to speculate that the abnormalities associated with Down syndrome might create a vulnerability for the development of moyamoya syndrome. PMID:11063086

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

    PubMed Central

    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. PMID:26379325

  12. Boerhaave syndrome: report of a case treated non-operatively.

    PubMed

    Larrieu, A J; Kieffer, R

    1975-04-01

    An unique case of Boerhaave's Syndrome is presented in which the patient survived without any surgical treatment. We believe that this was due to non-contamination of the mediastinal and pleural cavities as shown by serial contrast roentgenograms of the esophagus. PMID:1130863

  13. 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…

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

    ERIC Educational Resources Information Center

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

    2002-01-01

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

  15. Peutz-Jeghers syndrome: Four cases in one family

    PubMed Central

    Wang, Ran; Qi, Xingshun; Liu, Xu; Guo, Xiaozhong

    2016-01-01

    Summary Peutz-Jeghers syndrome (PJS) is a rare, but life-threatening, familial inherited disease, characterized by mucocutaneous pigmentation and hamartomatous polyps. The estimated incidence of PJS ranges from 1/50,000 to 1/200,000. PJS can significantly increase the risk of malignancies, and especially gastrointestinal malignancies. Reported here are 4 cases of PJS in one family.

  16. Naegeli-Franceschetti-Jadassohn syndrome: A rare case.

    PubMed

    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

  17. 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

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

    PubMed Central

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

    2012-01-01

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

  19. A case of serotonin syndrome and mutism associated with methadone.

    PubMed

    Bush, Eric; Miller, Carol; Friedman, Irwin

    2006-12-01

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

  20. 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

  1. 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

  2. Reversible cerebral vasoconstriction syndrome: case report.

    PubMed

    Oz, O?uzhan; Demirkaya, Seref; Bek, Semai; Ero?lu, Erdal; Ula?, Umit Hidir; Odaba?i, Zeki

    2009-08-01

    A 28-year-old woman had thunderclap headache (TCH), after 7 days she had left hemiparesis. She had a history of oral contraceptive and citalopram medications. Brain magnetic resonance (MR) angiography demonstrated multiple stenotic segments. Digital subtraction angiography (DSA) showed multiple segments of narrowing in vessel calibre. Two probable diagnoses performed; primary angiitis of the central nervous system and reversible cerebral vasoconstriction syndrome (RCVS). Because of clinical characteristics and normal cerebrospinal fluid findings she was set on medication for probable RCVS. Follow-up MR angiography after 4 weeks and DSA after 7 weeks demonstrated improvement in vessel calibre. Thus, diagnosis RCVS was established. Diagnosis and management of TCH contain many potential difficulties. Clinicians should consider the imaging of cerebral arteries, even if computed tomography scan and lumbar puncture are normal in TCH. Potential precipitating factors and triggers should also be known and avoided. PMID:19370308

  3. [Tolosa-Hunt syndrome: a case report].

    PubMed

    Kovaci?, Marijan; Kovaci?, Ivan; Krvavica, Ana; Neki?, Ivica; Harapin, Mladen

    2010-01-01

    Tolosa-Hunt syndrome is a nonspecific granulomatous inflammation of the cavernous sinus, superior orbital fissure and apex of the orbit. It involves episodes of unilateral orbital pain which may last several weeks, lesions of cranial nerve III, IV or VI, and rarely II, V, VII and VIII. It is characterized by remissions and exacerbations, and can cause permanent neurological disorder of the affected nerves. We present the course of the disease in a patient whose initial symptom was gradual visual loss in the right eye, followed by neuralgic pain in the right orbit and face. The diagnosis was confirmed by biopsy and corticosteroid therapy was administered. Exacerbation of the disease required repeated surgery, excision of the fibrous tissue of the cavernous sinus, as well as prolonged corticosteroid therapy. PMID:20677620

  4. Antisynthetase Syndrome: two case report and literature review.

    PubMed

    Theilacker, Lívia Regina; Brandão, Fabíola Sampaio; Goulart, Fernanda Velloso; Vaz, João Luiz Pereira; D'Almeida, Luiz Octávio Dias; da Fonseca Salgado, Maria Cecília

    2015-01-01

    Antissintetase Syndrome (ASS) is characterized by myositis, Raunaud's phenomenon, fever, intertitial lung disease, mechanic's hands and arthropathy associated with the presence of antibodies against tRNA synthetase, especially anti-Jo-1. This article aims to review the literature on ASS and report two cases where the first is a patient with polymyositis who developed subluxation on the proximal interphalangeal joint of bilateral first right finger after a few years of the disease, associated with pulmonary manifestations and positive anti-JO-1. In the second case, we present a patient with dermatomyositis, who developed a subluxation of the two first fingers, anti-Jo1 positive and chest CT changes, but without clinical evidence of pulmonary involvement. These cases reveal the importance of performing early diagnosis. The authors describe two cases of this rare syndrome, emphasizing the severity of interstitial lung disease and arthritis. PMID:25839958

  5. New case of Primrose syndrome with mild intellectual disability.

    PubMed

    Posmyk, Renata; Le?niewicz, Ryszard; Chor??y, Monika; Wo?czy?ski, S?awomir

    2011-11-01

    We report on a 27-year-old man, who represents the sixth and the youngest published case of Primrose syndrome. Primrose syndrome (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs, the small muscles of the hands resulting in contractures, the presence of intellectual disability, hearing problems, cataracts, brain calcification, and the ossification of ear cartilage. All the main manifestations were present in our patient. Despite the phenotypic similarity to five other cases, our patient had mild intellectual disability. Additionally we found hypergonadotropic hypogonadism and a low bone density due to progressive osteoporosis. We discuss our observations in relation to previously published cases, and we stress the need for the detail and phenotypic descriptions of further cases as PS remains rare, and the genetic basis is still undiscovered. PMID:21910247

  6. Partial proximal trisomy 10q syndrome: a new case.

    PubMed

    Nucaro, A; Faedda, A; Cao, A; Boccone, L

    2002-01-01

    We report a case of partial proximal trisomy of the long arm of chromosome 10 confirmed by fluorescence in situ hibridization (FISH) performed with whole chromosome 10 specific painting and specific yac clones. The phenotypic findings, compared to those found in other published cases with the same karyotype, support the recognition of a distinctive partial proximal trisomy 10q syndrome (10q11-->q22). PMID:12558111

  7. Report of a case of Raine syndrome and literature review.

    PubMed

    Seidahmed, Mohammed Zain; Alazami, Anas M; Abdelbasit, Omer Bashir; Al Hussein, Khalid; Miqdad, Abeer M; Abu-Sa'da, Omar; Mustafa, Tareq; Bahjat, Sarah; Alkuraya, Fowzan S

    2015-10-01

    We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New features in our patient are cerebellar hypoplasia and pachygyria. We review the literature and conclude that the triad of hypoplastic nose, exophthalmos and generalized osteosclerosis and/or intracranial calcification is consistent in all molecularly confirmed cases. PMID:25974638

  8. Hypothenar Hammer Syndrome: Case Reports and Brief Review

    PubMed Central

    Ablett, C. Timothy; Hackett, Laurel A.

    2008-01-01

    Patients with hand and finger pain regularly present to primary care practices. Although a well-known clinical entity to specialists, hypothenar hammer syndrome is an uncommon vascular overuse syndrome that may not be familiar to primary care practices. It is caused by trauma to the palmar portion of the ulnar artery, usually as a result of occupational or sports activities which involve repetitively striking objects with the heel of the hand. In this report we describe two representative cases as well as discuss clinical features, pathogenesis, diagnosis, imaging and management. PMID:18591371

  9. [Hyaline fibromatosis syndrome: case report of two siblings].

    PubMed

    Rangel Rivera, Diego Alejandro; Mendoza Rojas, Víctor Clemente; Uribe Pérez, Claudia Janeth; Contreras-García, Gustavo Adolfo

    2015-10-01

    Hyaline fibromatosis syndrome is a rare autosomal recessive disease characterized by the presence of contracture and joint pain, hyperpigmented plaques and nodules and gingival hypertrophy. These findings are the result of the accumulation of a hyaline amorphous material similar to collagen type VI in different tissues. This syndrome includes systemic hyalinosis and juvenile hyaline fibromatosis, two entities that for years were considered separately. However, it has been documented that the cause of both entities is located in the same gene and the clinical features and age of presentation are overlapped. In this study two cases of sisters from a same colombian family affected by the disease are presented. PMID:26294158

  10. 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

  11. Subclavian fusiform aneurysm causing partial subclavian steal syndrome. Case report.

    PubMed

    Buljan, Krunoslav; Buljan, Vesna; Hegeduš, Ivana; Pali? Kramari?, Ružica; Petek, Marta; Kristek, Branka; Butkovi? Soldo, Silva

    2014-03-01

    We present a 55-year-old man with repeated transient symptoms of vertebrobasilar arterial pathology. Physical examination detected no signs that would indicate the stenosis of the proximal subclavian artery segment. Ultrasound detected hemodynamic disorder of right vertebral artery, which correspond to a partial subclavian steal syndrome. Angiography shows fusiform aneurysm of ipsilateral subclavian artery in which central part is the base of hypoplastic vertebral artery. In the literature are rare reports of cases of partial subclavian steal syndrome caused by aneurysmal expansion of subclavian artery. PMID:24567930

  12. 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

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

    PubMed

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

    2015-01-01

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

  14. Carotid Stump Syndrome: Case Report and Endovascular Treatment.

    PubMed

    Dakhoul, Lara Toufic; Tawk, Rabih

    2014-01-01

    Objectives. To highlight the case of a patient with multiple transient ischemic attacks and visual disturbances diagnosed with carotid stump syndrome and managed with endovascular approach. Case Presentation. We present the case of a carotid stump syndrome in an elderly patient found to have moderate left internal carotid artery stenosis in response to an advertisement for carotid screening. After a medical therapeutic approach and a close follow-up, transient ischemic attacks recurred. Computed tomographic angiography showed an occlusion of the left internal carotid artery and the presence of moderate stenosis in the right internal carotid artery, which was treated by endovascular stenting and balloon insertion. One month later, the patient presented with visual disturbances due to the left carotid stump and severe stenosis of the left external carotid artery that was reapproached by endovascular stenting. Conclusion. Considerations should be given to the carotid stump syndrome as a source of emboli for ischemic strokes, and vascular assessment could be used to detect and treat this syndrome. PMID:26425620

  15. 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

  16. A case of Guillain-Barré syndrome with meningeal irritation.

    PubMed

    Ashikari, Yuka; Kobayashi, Satoru; Tago, Akari; Yoneyama, Mizuki; Ito, Midori; Fukuda, Keiko; Mizuno, Yoshifumi; Tsunoda, Yuko; Shimizu, Seiki; Yokoi, Kyoko; Kamioka, Naomi; Hamajima, Naoki; Suzuki, Satoshi

    2016-01-01

    Here, we report a 5-year-old girl with Guillain-Barré syndrome who presented with a chief complaint of pain in the extremities, which was followed by neck stiffness. Bladder dysfunction was found, which required catheterization. Magnetic resonance imaging revealed marked enhancement of the nerve roots in the cauda equina on T1-weighted imaging after gadolinium injection, and nerve conduction studies led to a diagnosis of Guillain-Barré syndrome. Her symptoms improved after intravenous immunoglobulin therapy, but her neck stiffness remained 16days after admission. Four weeks after admission, she could walk without support. As patients with signs of meningeal irritation may be diagnosed with other diseases, such as meningitis, it is important to recognize atypical cases of pediatric Guillain-Barré syndrome to achieve early diagnosis and treatment. PMID:26403311

  17. Maffucci's syndrome (hemangiomatosis osteolytica): a report of four cases.

    PubMed

    Collins, P S; Han, W; Williams, L R; Rich, N; Lee, J F; Villavicencio, J L

    1992-09-01

    Maffucci's syndrome is a congenital nonfamilial syndrome combining dyschondroplasia, (enchondromatosis) and hemangiomatosis. It is a rare disease; only 200 cases have been reported throughout the world in the past 140 years. Over the past 20 years, four patients have been admitted with signs and symptoms consistent with Maffucci's syndrome. Three were children ages 3, 7, and 9 years. The fourth was 23 years old. Two were male and two female. All had hemangiomas at birth, and all had skeletal deformities and enchondromas. All complained of pain and heaviness of the involved extremity. Three patients had the arterial inflow evaluated with arteriograms, and one had magnetic resonance imaging. Two also had venograms. Two patients had excision of their hemangiomas, and one had sclerotherapy and compression therapy. All had bone biopsies performed. None of the enchondromas or the soft tissue lesions had undergone sarcomatous transformation. PMID:1522638

  18. Carpal tunnel syndrome caused by lipoma: a case report

    PubMed Central

    Sbai, Mohamed Ali; Benzarti, Sofien; Msek, Hichem; Boussen, Monia; Khorbi, Adel

    2015-01-01

    Lipoma is a relatively frequent, benign soft-tissue tumor rarely located in the hand. A lipoma of the hand causing a carpal tunnel syndrome by compression of the median nerve is exceptional. We report the case of a 70-year-old female presenting with a carpal tunnel syndrome. A compression of the median nerve by a lipoma was discovered during surgery. Transverse carpal ligament release with lipoma excision and neurolysis of the median nerve were performed. Histopathological study of the resected mass was consistent with a lipoma. Two-month postoperatively, the patient recovered full hand function with entire disappearance of acroparesthesia. Carpal tunnel syndrome caused by space occupying lesions is rare. Diagnosis is difficult, usually based on the clinical study, electrophysiology and magnetic resonance imaging (MRI). Transverse carpal ligament release and excision of lipoma provides excellent functional recovery. PMID:26664552

  19. [Hodgkin disease revealed by a nephrotic syndrome: A case report].

    PubMed

    Cheptou, M; Pichault, V; Campagni, R; Vodoff, M-V; Fischbach, M; Paillard, C

    2015-12-01

    Pediatric nephrotic syndrome (NS) is most often idiopathic or primary but in rare cases, it can be secondary to neoplasia. We report on a case of steroid-resistant NS revealing as a paraneoplastic syndrome of Hodgkin disease (HD) in a 12-year-old boy. The onset of the NS can be earlier, later, or simultaneous to the HD. Treatment of the lymphoma allows the disappearance of the NS. In the case we observed, the diagnosis of HD was delayed because HD presented with an isolated, hilar adenopathy in the absence of retroperitoneal or peripheral locations. In children aged 10 years or more presenting with NS, steroid-resistant or otherwise, a possible paraneoplastic origin such as Hodgkin lymphoma should always be taken into consideration and eventually eliminated. PMID:26598043

  20. Sirenomelia: The mermaid syndrome: Report of two cases

    PubMed Central

    Samal, Sunil Kumar; Rathod, Setu

    2015-01-01

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

  1. Case report of sump syndrome after laser conjunctivodacryocystorhinostomy.

    PubMed

    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

  2. [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. PMID:26058174

  3. 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

  4. [Toxic-shock syndrome. Three cases (author's transl)].

    PubMed

    Rapin, M; D'Enfert, J; Cabane, J

    1981-06-13

    Several cases of toxic shock syndrome (T.S.S) have been recently reported from the U.S.A. Clinical features of this new syndrome include fever, desquamative scarlatiniform rash, hypotension and involvement of central nervous system, liver, kidney and muscles. More than 90% of cases are women with staphylococcic vaginitis using tampons during menstruations. A toxin produced by staphylococcus aureus is thought to be the causative agent, because the germ has been isolated in local (vaginal, pharyngeal, subcutaneous or other sites) but not systemic (blood, cerebrospinal fluid) cultures. The mortality rate is 3-10%, and relapse can occur. We report the first three french cases of T.S.S.: a 17 year old girl with typical tampon-associated vaginitis, a 36 year old woman with a postoperative peritonitis and a 20 year old man with a popliteal abscess. Staphylococcus aureus of type I or IV was identified at the site of infection in all cases, but never in blood cultures. These three patients recovered with antistaphylococcic antibiotics and supportive therapy, but local treatment of infections seems to have been of utmost importance. These cases suggest that T.S.S. can occur with several staphylococcus serotypes and confirm that this syndrome is not always associated with tampons and vaginitis. PMID:7267317

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

    PubMed Central

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

    2015-01-01

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

  6. Case Report: Bazex Syndrome Associated With Pulmonary Adenocarcinoma

    PubMed Central

    Zhao, Jing; Zhang, Xilin; Chen, Zhuo; Wu, Jian-hua

    2016-01-01

    Abstract Bazex syndrome, a rare paraneoplastic syndrome characterized by psoriasiform eruptions, palmoplantar keratosis, and symmetric onychodystrophy, is most prevalent with squamous cell carcinomas of the upper aerodigestive tract. Here, we reported an uncommon case of Bazex syndrome about an 83-year-old man with pulmonary adenocarcinoma and osseous metastasis, Physical examination found psoriasiform eruptions on the nose, cheeks, ears, knees, and the dorsa of interphalangeal joints, along with plantar keratosis and symmetric onychodystrophy involving hands and feet. Imaging analyses pulmonary adenocarcinoma with both local metastatic nodules and osseous metastasis. Symptomatic treatment with topical corticosteroids and oral retinoids showed no improvement. A 4-month follow-up showed that Gefitinib, an epidermal growth factor receptor tyrosine kinase inhibitor, successfully reduced primary tumor size and alleviated cutaneous lesions. Our report here highlighted a potential correlation between pulmonary adenocarcinoma and Bazex syndrome, which is characterized by hallmark nail destruction and preferential involvement of body extremities. Moreover, etiological therapy against underlying malignancy is essential for treating paraneoplastic Bazex syndrome. PMID:26765420

  7. [A case of post-traumatic medial longitudinal fasciculus syndrome].

    PubMed

    Takano, S; Endoh, M; Miyasaka, Y; Ohwada, T; Mukuno, K; Takagi, H

    1991-10-01

    Medial longitudinal fasciculus (MLF) syndrome recognized 2 days after a head injury is described. The patient was a 48-year-old man who had fallen from a ladder about 3m high. On his admission, scalp contusion on the left occipital area was noticed. Neurological examination revealed no neurological abnormalities except slightly disturbed consciousness. Plain skull X-ray films demonstrated a lineal skull fracture of the left occipital bone. Computed tomographic (CT) scans showed a slight subarachnoid hemorrhage within the bilateral sylvian fissures, but no parenchymal contusion in the brain stem was observed. On the 2nd day, when the patient regained full consciousness, impairment of adduction of the right eye and a fine nystagmus of the left eye on left lateral gaze were recognized. Convergence was intact. Right side MLF syndrome was diagnosed. This syndrome gradually disappeared followed by the initial improvement of adduction of the right eye, and the patient had completely recovered about 20 days after the head injury. Three major mechanisms leading to MLF syndrome caused by head injury are reported in the literature. They are: (1) primary brain stem injury, (2) secondary brainstem injury by trans-tentorial herniation, and (3) circulatory disturbance of perforating branches of the vertebro-basilar artery due to shearing force. In our case, the slightly disturbed consciousness at the time of the head injury indicates that this syndrome was not brought on by primary or secondary brain stem injury.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1944782

  8. Anesthetic considerations in Demons-Meigs’ syndrome: a case report

    PubMed Central

    2014-01-01

    Introduction Demons-Meigs’ syndrome is characterized by the presence of a benign ovarian tumor associated with ascites and a right-sided hydrothorax. Its pathophysiology remains unclear. Anesthesia of this syndrome is a real challenge. Respiratory, hemodynamic, metabolic problems and abdominal hypertension are the main anesthetic risks. Case presentation A 52-year-old African woman with Demons-Meigs’ syndrome was admitted for elective surgery under general anesthesia. An abdominal computed tomography scan showed a tumor mass, with tissue and cystic components associated with abundant ascites and a right pleural effusion of medium abundance. In the operating room after standard monitoring, a crash induction was performed. Just after, her saturation level decreased requiring the use of an alveolar recruitment maneuver followed by the application of positive end-expiratory pressure. Vasoconstrictor and vascular filling were used to correct the hypotension that occurred. Airway pressures remained at 35cm H2O. Maintenance of a slightly proclive position and opening of the abdomen with the progressive removal of 3200ml ascitic fluid allowed a lower thoracic pressure (airway pressures=24cm H2O). Her postoperative course was unremarkable. Clinical evolution after five months was marked by a complete recovery of our patient and no recurrence of effusion or ascites. Conclusions Demons-Meigs’ syndrome is a benign disease with a good prognosis. Respiratory and hemodynamic problems and abdominal hypertension are the main anesthetic risks of this syndrome. Good management of these risks is necessary to preserve the prognosis. PMID:25262179

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

    PubMed

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

    2015-09-01

    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

  10. 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

  11. 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 which associated anomalies are most common in cases with DS with associated anomalies. In this study we observed a higher percentage of associated anomalies than in the other reported series as well as an increase in the incidence of duodenal atresia, urinary system anomalies, musculoskeletal system anomalies, and respiratory system anomalies, and a decrease in the incidence of anal atresia, annular pancreas, and limb reduction defects. In conclusion, we observed a high prevalence of total congenital anomalies and specific patterns of malformations associated with Down syndrome which emphasizes the need to evaluate carefully all cases with Down syndrome for possible associated major congenital anomalies. PMID:26578241

  12. Long acting somatostatin treatment of paraneoplastic Cushing's syndrome in a case of Zollinger-Ellison syndrome.

    PubMed Central

    Ruszniewski, P; Girard, F; Benamouzig, R; Mignon, M; Bonfils, S

    1988-01-01

    Cushing's syndrome, caused by ectopic ACTH production during Zollinger-Ellison syndrome, raises difficult therapeutic problems. We report a case of clinical and biological efficacy of long acting somatostatin (SMS) in this condition. In a short term study with 200 micrograms SMS bid, symptoms of hypercorticism disappeared while cortisol and ACTH serum concentrations fell below the normal values. Longterm treatment was instituted with 50 micrograms SMS bid. Excellent clinical efficacy as well as normal cortisol and ACTH serum concentrations were maintained during the nine month follow up. Lipotrophic hormone (LPH) serum concentration remained raised. No decrease in size of hepatic metastases was observed. Long acting somatostatin analogues may be useful in endocrine paraneoplastic syndromes. PMID:2898423

  13. Bilateral Type-I Duane Syndrome with Multiple Anamolies: A Case Report

    PubMed Central

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

    2012-01-01

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

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

    PubMed Central

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

    2000-01-01

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

  15. [A case of acute coronary syndrome following the use of parenteral penicillin: Kounis syndrome].

    TOXLINE Toxicology Bibliographic Information

    Tok D; Ozcan F; Sentürk B; Gölba?ı Z

    2012-10-01

    Kounis syndrome refers to the concurrence of acute coronary events and allergic or hypersensitivity reactions. In this report, we describe the case of a male patient, in whom acute ST-segment elevation and myocardial infarction developed immediately after injection of depot penicillin, and we discuss the Kounis syndrome. A 52-year-old male patient had chest pain, hypotension and ST-elevation on leads DI and aVL of electrocardiography 30 minutes after intramuscular penicillin injection due to cryptic tonsillitis. Kounis syndrome was considered as a possible diagnosis according to the presentation. Histamine and tryptase levels were not studied due to the delay on arrival to the emergency department. The patient promptly underwent coronary angiography, which revealed only diffuse plaques in all main coronary arteries without any obstructive lesion. We found only increased immunoglobulin (Ig) E, which is associated with the syndrome. With this report, we remind clinicians to consider Kounis syndrome in patients who are subjected to allergenic substances and demonstrate acute chest pain.

  16. 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 . PMID:24829636

  17. Short case report: 'Speaking in tongues'--foreign accent syndrome.

    PubMed

    Mendis, Dulani; Haselden, Karen; Costello, Declan

    2013-07-01

    Foreign accent syndrome is a rare dysprosody in which pronunciation of a patient's speech is perceived by same-language listeners as sounding foreign. Sixty cases have been described between 1941 and 2009. It is commonly associated with an acquired brain injury (vascular insult/head injury), but also with psychogenic illness and has been described in two cases as a developmental problem. Here we describe a case secondary to a minor electrocution associated with no evidence of structural brain injury on imaging. PMID:22871041

  18. 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

  19. 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

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

    PubMed Central

    Dahlgren, James; Wardenburg, Marla; Peckham, Trevor

    2010-01-01

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

  1. Waardenburg Syndrome: A Case Study of Two Patients.

    PubMed

    Sharma, Karan; Arora, Archana

    2015-09-01

    Waardenburg syndrome is an autosomal dominant disorder with an incidence of 1 in 40,000 that manifests with sensorineural deafness, pigmentation defects of the skin, hair and iris and various defects of neural crest-derived tissues. This genetically heterogeneous disease accounts for >2 % of the congenitally deaf population. Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. We here report a case of 12 year old female who presented with chief complaint of decreased hearing in both ears and had clinical features consistent with Waardenburg syndrome. She had a distinct white forelock of hair in the midline along with striking bilateral blue iris. Also a white depigmented patch was present on the right forearm. Both eyes had bright red fundal reflex with choroidal depigmentation. Her younger brother, the second case in this study, had similar blue eyes, white forelock of hair, depigmented skin patch and choroidal depigmentation but with normal hearing. Their father had a history of premature graying of hair. All the primary care physicians coming across a child with blue eyes and white forelock of hair should get the child's hearing tested at the first instance, if not already tested. An early diagnosis and improvement of hearing impairment with timely intervention are the most important for psychological and intellectual development of children with Waardenburg syndrome. PMID:26405672

  2. Lemierre's syndrome: two cases of postanginal sepsis.

    PubMed

    Lustig, L R; Cusick, B C; Cheung, S W; Lee, K C

    1995-06-01

    Lemierre's disease consists of suppurative thrombophlebitis of the IJV in the presence of oropharyngeal infection and can be complicated by septic pulmonary emboli. If a patient has an oropharyngeal or deep neck infection and neck pain suspicious for IJV thrombosis, a CT or MRI is warranted to establish the diagnosis. Blood cultures should be obtained to establish the responsible organism. In most cases F. necrophorum, an anaerobic bacterium, is responsible for the sepsis. Once the diagnosis of Lemierre's disease is made, long-term, high-dose intravenous antibiotics with beta-lactamase anaerobic activity should be initiated. In cases with persistent sepsis and emboli despite appropriate medical management, ligation or excision of the IJV should be performed. Finally, if there is clinical or radiologic evidence of retrograde cavernous sinus thrombosis, the use of anticoagulants should be considered. PMID:7777368

  3. Aqueous misdirection syndrome: an interesting case presentation

    PubMed Central

    Moinul, Prima; Hutnik, Cindy ML

    2015-01-01

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

  4. Hyperferritinemic syndrome: Still's disease and catastrophic antiphospholipid syndrome triggered by fulminant Chikungunya infection: a case report of two patients.

    PubMed

    Betancur, Juan-Felipe; Navarro, Erika-Paola; Echeverry, Alex; Moncada, Pablo A; Cañas, Carlos A; Tobón, Gabriel J

    2015-11-01

    There are four medical conditions characterized by high levels of ferritin, the macrophage activation syndrome (MAS), adult onset Still' s disease (AOSD), catastrophic antiphospholipid syndrome (CAPS), and septic shock, that share similar clinical and laboratory features, suggesting a common pathogenic mechanism. This common syndrome entity is termed "the hyperferritinemic syndrome." Here, we describe two different cases of hyperferritinemic syndrome triggered by Chikungunya fever virus infection: a 21-year-old female with SLE and a 32-year-old male patient who developed AOSD after the coinfection of dengue and Chikungunya viruses. PMID:26233722

  5. An unusual case of vascular loop syndrome.

    PubMed

    Uluduz, Derya; Karaali-Savrun, Feray; Gunduz, Aysegul; Kiziltan, Meral E

    2007-09-01

    Coexistence of hemifacial spasm (HFS) and trigeminal neuralgia (TN) is a rare entity known as painful tic convulsif (PTC). Here, we present a case of right-sided HFS after which left TN developed, which is an unusual form of PTC. Both disorders were caused by bilateral vascular compression of the cranial nerves and successfully treated with botulinum toxin and carbamazepine. As PTC is benign in nature and can be treated with botulinum toxin, neuroradiological investigations should be performed for an accurate aetiological diagnosis, particularly in young patients with atypical disease manifestations. PMID:17906834

  6. Antidepressant-induced Burning Mouth Syndrome: A Unique Case

    PubMed Central

    Puttaswamiah, Rajiv Nidasale; Birur, Praveen N; Ramaswamy, Bhanushree; Sunny, Sumsum P

    2014-01-01

    Burning Mouth Syndrome (BMS) is defined as a chronic orofacial pain syndrome, without evidence of mucosal lesions and other clinical signs of disease or laboratory abnormalities. Patients with BMS complain of burning pain in the mouth, xerostomia and taste disturbances. It is more common among women and the median age of occurrence is about 60 years. BMS may be primary or secondary to other diseases. The mainstay in the treatment of BMS includes antidepressants, benzodiazepines, and anticonvulsants. A few cases of BMS caused due to medication have been reported. The causative drugs include angiotensin-converting enzyme inhibitors, anticoagulants, antipsychotics, antiretrovirals, and benzodiazepines. This is a case report of a patient on antidepressants who developed symptoms of BMS thereby causing a dilemma in management. PMID:25031818

  7. Spontaneous resolution of quadrilateral space syndrome: a case report.

    PubMed

    Gregory, Thomas; Sangha, Harpreet; Bleakney, Robert

    2015-01-01

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

  8. Antidepressant-induced Burning Mouth Syndrome: A Unique Case.

    PubMed

    Raghavan, Shubhasini Attavar; Puttaswamiah, Rajiv Nidasale; Birur, Praveen N; Ramaswamy, Bhanushree; Sunny, Sumsum P

    2014-07-01

    Burning Mouth Syndrome (BMS) is defined as a chronic orofacial pain syndrome, without evidence of mucosal lesions and other clinical signs of disease or laboratory abnormalities. Patients with BMS complain of burning pain in the mouth, xerostomia and taste disturbances. It is more common among women and the median age of occurrence is about 60 years. BMS may be primary or secondary to other diseases. The mainstay in the treatment of BMS includes antidepressants, benzodiazepines, and anticonvulsants. A few cases of BMS caused due to medication have been reported. The causative drugs include angiotensin-converting enzyme inhibitors, anticoagulants, antipsychotics, antiretrovirals, and benzodiazepines. This is a case report of a patient on antidepressants who developed symptoms of BMS thereby causing a dilemma in management. PMID:25031818

  9. [True neurogenic outlet syndrome: report of 2 cases].

    PubMed

    Scola, R H; Werneck, L C; Iwamoto, F M; Maegawa, G H; Faoro, L N; Caldeira, F H

    1999-09-01

    True neurogenic thoracic outlet syndrome is caused by compression of the lower trunk of the brachial plexus usually by a cervical rib, fibrous band or an elongated transverse process of C7. We describe two cases of female patients (23 and 19 years old) with pain in the right superior limb and progressive muscular weakness and atrophy of the intrinsic muscles of hand. Electrodiagnostic studies showed reduced amplitude of compound muscle action potential of median nerve and decreased amplitude of ulnar sensory nerve action potential. Motor and sensory nerve conduction velocities were normal in both patients. Needle electromyography were findings compatible with chronic denervation in the intrinsic muscles of the right hand of both patients. Radiological investigation showed cervical ribs in one case and elongated transverse process of C7 in the other. A discussion about the clinical and electrophysiological features and the treatment of the syndrome was performed. PMID:10667293

  10. Successful surgical strategy in a late case of Boerhaave's syndrome.

    PubMed

    Shen, Gang; Chai, Ying; Zhang, Guo-Fei

    2014-09-21

    Boerhaave's syndrome refers to the spontaneous transmural rupture of the esophagus. Primary repair may be performed in patients who present within 24 h of perforation, and such cases have the best outcomes as most complications have not yet developed. However, the treatment of late perforations remains controversial. Various approaches and strategies to repair late perforations have been described in the literature, but there is no uniform approach. We present a case of Boerhaave's syndrome in which the patient underwent surgical repair 48 h after the acute event and was subsequently treated successfully. The initial approach included direct esophageal repair, a drainage series, and nutritional support via a feeding jejunostomy. Although the repair site was subsequently disrupted, the patient showed complete healing of the perforation after three weeks. We consider that our surgical treatment strategy is safe and technically feasible, and appears to be a promising alternative approach for the treatment of patients with late Boerhaave's perforation. PMID:25253979

  11. Unremitting body odour: A case of Olfactory Reference Syndrome.

    PubMed

    Tee, C K; Suzaily, W

    2015-01-01

    Olfactory reference syndrome (ORS) is a person's fear of exuding an offensive body odour which is not perceived by others. The objective of this case report is to highlight the challenges in diagnosing olfactory reference syndrome due to the lack of diagnostic criteria as well as its similarities to other psychiatric illnesses. We report a case of a young Chinese gentleman who was preoccupied with the belief that he had an offensive body odour which was not noticeable by others since the age of 10. As a result of this, he developed compulsive behaviour, social anxiety and avoidance, as well as depression. The patient had an array of psychiatric symptoms. He had symptoms which fulfilled criteria for obsessive compulsive disorder (OCD), delusional disorder somatic type, and social anxiety disorder. ORS remains a diagnostic challenge. Further studies are needed in this area for a better understanding of the disorder. PMID:25945434

  12. An Unusual Case of Systemic Lupus Erythematosus and Hemophagocytic Syndrome

    PubMed Central

    Sharmeen, Saika; Hussain, Nazia

    2016-01-01

    Hemophagocytic syndrome (HS) or hemophagocytic lymphohistiocytosis (HLH) is an immune mediated phenomenon that can occur in the setting of an autoimmune disease, chronic immunosuppression, malignancy, or infection. It has been more commonly described in the pediatric population and less commonly in adults. We describe a case of a 52-year-old male who presented with a rash. He simultaneously met the Systemic Lupus International Collaborating Clinics (SLICC) criteria for the diagnosis of systemic lupus erythematosus (SLE) and the diagnostic criteria of HS as described in the hemophagocytic lymphohistiocytosis (HLH) 2004 trial. The bone marrow on autopsy showed the presence of abundant hemosiderophages with focal hemophagocytosis. SLE-associated HS might be underdiagnosed due to the overlap in clinical findings. This case represents the importance of prompt diagnosis and treatment of such a potentially fatal clinical syndrome. PMID:26981305

  13. One-and-a-half syndrome--two cases.

    PubMed

    Ilniczky, Sándor; Kamondi, Anita; Várallyay, György; Gaal, Barbara; Palásti, Agnes; Gulyás, Szilvia; Szirmai, Imre

    2007-11-30

    One-and-a-half syndrome is characterized by combination of the clinical features of unilateral horizontal gaze palsy and internuclear ophthalmoplegia. The common symptoms are double vision and oscillopsia. The lesion is located in the paramedian pontine reticular formation, involving the centre of horizontal gaze and medial longitudinal fasciculus. More extensive brainstem damage may result in additional neurological signs. The most frequent underlying diseases are vascular insults, multiple sclerosis, and brainstem tumor. We present two cases of one-and-a-half syndrome. Both patients had lacunar infarction in the paramedian pontine tegmentum, revealed by MRI. The first patient had isolated eye movement disorder, while the second had additional nuclear-type facial paresis. In the first case brainstem evoked potentials indicated brainstem damage, in the second patient it was normal. Ocular symptoms improved within some days in both patients. PMID:18198796

  14. Unnecessary surgical treatment in a case of olfactory reference syndrome.

    PubMed

    Miranda-Sivelo, Alberto; Bajo-Del Pozo, Cristina; Fructuoso-Castellar, Ana

    2013-01-01

    We present a case of olfactory reference syndrome (ORS) with complaints of bromhidrosis. This patient underwent a lumbar sympathectomy to correct the imagined body odor problem. The patient reported experiencing an improvement after surgery, but later, the olfactory symptoms returned. The main objective with ORS patients should be to begin psychiatric treatment early. Other treatments usually appear to be ineffective and cause great dissatisfaction. PMID:23992627

  15. Thermographic assessment of sacroiliac syndrome: report of a case

    PubMed Central

    Diakow, Peter RP

    1990-01-01

    The thermographic appearance of a clinically diagnosed case of sacroiliac (SI) syndrome is presented. A diffuse area of increased thermal emission was imaged over the anatomical location of the joint. This pattern is similar to the thermal image seen in rheumatological patients with gross sacroilitis. The thermal image returned to normal (thermal symmetry between SI joints) after a course of manipulation to the dysfunctional joint. Suggestions for future study are given. ImagesFigure 1Figure 2

  16. 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.

  17. Parkes weber syndrome involving right lower limb: a case report.

    PubMed

    Kondapavuluri, Benod Kumar; Bharadwaj, R N; Shaikh, Shama; Chand, Akshay; Chaturvedi, Vidyasagar

    2015-04-01

    Vascular malformations (VMs) are developmental abnormalities of the vascular system. Malformations may involve any segment of the vascular tree: arteries, capillaries, veins or lymphatics. High-flow arteriovenous malformations (AVMs) are associated with shunting of large amounts of arterial blood into the venous system; these lesions can have dynamic and dramatic hemodynamic manifestations, such as massive arteriolisation with gross venous engorgement, organomegaly of concerned anatomical region and high-output cardiac failure. Patients with Parkes Weber syndrome have clinically significant micro- or macrofistulous arteriovenous shunts, affecting usually one extremity. The patient has dilated, frequently visible pulsatile varicose veins and other visible signs of AV shunting. The abnormality is sporadic; it is likely a somatic mutation. There is frequent intraosseous involvement. The presence of high AV shunts differentiates Parkes Weber syndrome from Klippel-Trenaunay syndrome which is a clinical triad of capillary malformation, soft tissue and bone hypertrophy and venous and lymphatic malformations. The mutations in RASA 1 gene leads to Parkes Weber syndrome characterised by the presence of multiple, small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. We report a case of congenital AVM of the lower limb causing cardiac decompensation. The patient was safely and successfully treated by performing a knee disarticulation. PMID:25972672

  18. The first case of Bruck syndrome associated with gastroschisis.

    PubMed

    Af?arlar, Ça?atay Evrim; Peltek-Kendirci, Havva Nur; Erdo?an, Derya; Özgüner, ?smet Faruk; Çavu?o?lu, Yusuf Hakan; Karaman, Ay?e; Çetinkaya, Semra

    2013-01-01

    Bruck syndrome is an extremely rare disorder featuring the unusual combination of skeletal changes resembling osteogenesis imperfecta with congenital contractures of large joints. Although the genotypic and phenotypic features of Bruck syndrome are heterogeneous, we report a baby girl having gastroschisis complicated with jejunal perforation in addition to bone fractures and joint contractures, which supported the diagnosis of Bruck syndrome. After surgical procedures for gastroschisis, the fractures were treated with splints, and cyclic pamidronate treatment was started. On postoperative day 30, the patient was discharged without any complications. She is now seven months of age, gaining weight and has had no additional fractures with the ongoing pamidronate treatment. Although prematurity and low birth weight are common in gastroschisis, musculoskeletal anomalies have not been reported until now, and thus the case is unique. Additionally, cyclic pamidronate administration is a good treatment choice for bone fragility in Bruck syndrome to reduce the number of fractures, and it may be beneficial for the subsequent clinical deterioration of the patients. PMID:24577988

  19. The laparoscopic management of Swyer syndrome: Case series

    PubMed Central

    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 during workup for primary amenorrhea before they present with adnexal masses. PMID:26692777

  20. Acute tumour lysis syndrome: a case in AL amyloidosis.

    PubMed

    Akasheh, M S; Chang, C P; Vesole, D H

    1999-11-01

    Tumour lysis syndrome (TLS) in plasma cell dyscrasias is extremely rare. TLS has been described in eight cases of multiple myeloma undergoing high-dose therapy with autologous stem cell transplant (ASCT). Recently, clinical trials of intensive chemotherapy followed by autologous or allogeneic stem cell support has been shown to offer potential benefit in AL (amyloid light-chain) amyloidosis. TLS in primary AL amyloidosis in this setting has not been previously reported. We report a case of TLS in a patient with AL amyloidosis which developed after high-dose melphalan chemotherapy supported by ASCT. PMID:10583230

  1. Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report.

    PubMed

    Kondo, Hidehito; Tanda, Koichi; Tabata, Chihiro; Hayashi, Kohei; Kihara, Minako; Kizaki, Zenro; Taniguchi-Ikeda, Mariko; Mori, Masato; Murayama, Kei; Ohtake, Akira

    2014-09-01

    We report the first case of Leigh syndrome (LS) with Fukuyama congenital muscular dystrophy (FCMD). A neonate suffered from lactic acidosis and subsequently presented with poor feeding, muscle weakness, hypotonia, cardiopulmonary dysfunction, and hydrocephalus. He died at 17 months. The findings of brain magnetic resonance imaging indicated some specific features of both LS and FCMD, and FCMD gene mutation was detected. Decreased mitochondrial respiratory complex I and II activity was noted. Mitochondrial DNA sequencing showed no pathogenic mutation. A case with complex I+II deficiency has rarely been reported, suggesting a nuclear gene mutation. PMID:24113355

  2. Beckwith-Wiedemann syndrome and juvenile fibroadenoma: a case report.

    PubMed

    Poh, Melissa M; Ballard, Tiffany N; Wendel, J Jason

    2010-06-01

    Beckwith-Wiedemann syndrome (BWS) is a complex overgrowth disorder usually recognized at birth. Children diagnosed with BWS, particularly those with hemihypertrophy, experience an increased risk of developing benign and malignant tumors. This case report presents a 12-year-old girl with BWS and hemihypertrophy who rapidly developed enlarging, asymmetric tumors of bilateral breasts. Few cases of patients with BWS and benign breast tumors exist in the literature. The differential diagnosis of breast tumors in the adolescent female is described. The treatment plan and reconstruction options particular to the developing young female are also discussed. PMID:20506580

  3. 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. PMID:26401507

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

    PubMed

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

    2014-12-01

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

  5. Megalocornea and mental retardation syndrome: clinical and instrumental follow-up of a case.

    PubMed

    Margari, Lucia; Presicci, Anna; Ventura, Patrizia; Buttiglione, Maura; Dicuonzo, Franca; Lattarulo, Caterina; Perniola, Tommaso

    2006-10-01

    Megalocornea-mental retardation syndrome, otherwise known as Neuhauser syndrome, is a rare autosomal recessive disorder. Only 36 cases have been reported in the literature. We describe the clinical and instrumental follow-up, lasting 5 years, of a case showing the typical features of the syndrome, associated with transient hypothyroidism, epilepsy, cerebral palsy with choreoathetotic movements, and brain malformation. Our report might help better delineate the phenotype and natural history of the syndrome. PMID:17005108

  6. Anesthesia and Airway Management in Two Cases of Apert Syndrome: Case Reports

    PubMed Central

    Atalay, Canan; Dogan, Nazim; Yüksek, ?ahin; Erdem, Ali Fuat

    2008-01-01

    Apert syndrome is a type of acrocephalosyndactilia that consists of craniofacial synostosis, midface hypoplasia and syndactyly, with an autosomal dominant inheritance pattern. During anesthesia, difficult intubation and ventilation may be observed because of abnormal airways. In one of our patients, visceral anomalies, such as esophageal stricture and post-strictural dilatation, may cause respiratory problems because of aspiration. The second case was a Mallampati grade 2 with craniofacial synostoses, midface hypoplasia and syndactyly. In the case of apert syndrome, anesthetists must be prepared for intubation difficulties, airway and ventilation problems and even visceral anomalies. PMID:25610037

  7. An autopsy case of Cronkhite-Canada syndrome.

    PubMed

    Tokuyasu, K; Takebayashi, S; Takahara, O; Uchiyama, E

    1976-01-01

    An autopsy case of Cronkhite-Canada's syndrome characterized by diffuse gastrointestinal polyposis, alopetia, onychodystrophia and pigmentation of the skin is reported. The patient, 51 year-old-male, died with general weakness and pneumonia at 6 months after the first notice of alopetia anorexia and weight loss. Numerous and various sized polyps and polypoid lesions were revealed in the gastrointestinal tracts at the autopsy. The microscopic pictures of the lesions were composed of hyperplastic or papillary adenomatous polyps with hyperplasia of mucosa epithelium. In some of the lesions, the glands are cystically dilated containing mucous. Lymph vessels of thelamina propria and the submucosa benerked chronic inflammatory infiltrate was noted. The present report is described the histopathological findings of the gastrointestinal lesions with Cronkhite-Canada syndrome and discussed with literature. PMID:992257

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

    PubMed

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

    2013-05-01

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

  9. Case of pituitary stalk transection syndrome ascertained after breech delivery.

    PubMed

    Fukuta, Kaori; Hidaka, Takao; Ono, Yosuke; Kochi, Keiko; Yasoshima, Kuniaki; Arai, Takashi

    2016-02-01

    Pituitary stalk transection syndrome (PSTS) is a rare complication that can accompany breech delivery. Early diagnosis of this syndrome is difficult, and it may cause a serious delay in the diagnosis. We present a case of PSTS ascertained after breech delivery. A 20-year-old woman presented with primary amenorrhea. The patient was born by breech delivery and had a history of treatment for pituitary dwarfism. Her laboratory findings showed pituitary hypothyroidism, and hormone replacement therapy was initiated. At 28 years old, she became pregnant and had a normal delivery at 38 weeks' gestation. One year after delivery, her thyroid hormone level changed. Laboratory test showed adrenocortical insufficiency, and magnetic resonance imaging of the pituitary gland showed transection of the pituitary stalk and development of an ectopic posterior lobe. These findings were compatible with PSTS. When a patient who has been born by breech delivery presents with symptoms of pituitary deficiency, PSTS should be considered in the differential diagnosis. PMID:26631915

  10. 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

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

    PubMed

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

    2015-01-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-01-01

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

  14. Renal involvement in mushroom poisoning: The case of Orellanus syndrome.

    PubMed

    Esposito, Pasquale; La Porta, Edoardo; Calatroni, Marta; Bianzina, Stefania; Libetta, Carmelo; Gregorini, Marilena; Rampino, Teresa; Dal Canton, Antonio

    2015-10-01

    Although mushroom poisoning is a rare cause of acute renal injury, in some cases it may lead to the development of a severe and irreversible renal failure. Orellanus syndrome is the most important example of organic renal damage related to mushroom consumption. It is caused by the ingestion of orellanine, the main toxin of different types of Cortinarius mushrooms (Cortinarius speciosissimus, C.?orellanus, C.?orellanoides, etc.), and it is characterized by progressive clinical phases with a predominant kidney involvement, finally requiring renal replacement therapy in about 10% of cases. Renal damage is often late and associated with a histological picture of interstitial nephritis. Diagnosis is essentially clinical and no specific therapy has been shown to be effective in preventing and treating renal damage. Here, we describe the case of a patient with mixed wild mushroom poisoning, presenting the typical clinical signs and course of the Orellanus syndrome. This case offers us the opportunity to review the main clinical features of this severe and little-known intoxication. PMID:25649895

  15. Pervasive refusal syndrome. Three German cases provide further illustration.

    PubMed

    Jans, Thomas; Ball, Juliane; Preiss, Maike; Haberhausen, Michael; Warnke, Andreas; Renner, Tobias J

    2011-09-01

    Pervasive refusal syndrome (PRS) has been proposed as a new diagnostic entity among child and adolescent psychiatric disorders. It is characterized by a cluster of life-threatening symptoms including refusal of hood intake, decreased or complete lack of mobilization, and lack of communication as well as retreat from normal life activities. Active refusal to accept help as well as neglect of personal care have been core features of PRS in the limited number of cases reported in the last decade. There have, however; been cases with predominantly passive resistance, indicating the possibility that there may be a continuum from active refusal to passive resistance within PRS. Postulating this continuum allows for the integration of "depressive devitalization" -- a refusal syndrome mainly characterized by passive resistance -- into the concept of PRS. Here, three case vignettes of adolescent patients with PRS are presented. The patients' symptomatology can be allocated on this continuum of PRS. PRS and dissociative disorders are compared in greater detail and contrasted within this discussion of differential diagnoses at the poles of such a continuum. PRS is a useful diagnosis for cases involving symptoms of predominating refusal and retreat which cannot satisfactorily be classified by existing diagnostic categories, and which can mostly clearly be separated from dissociative disorder. PMID:21882157

  16. 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

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

    PubMed

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

    2014-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  19. 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

  20. Multiorgan failure due to hemophagocytic syndrome: A case report

    PubMed Central

    Mayordomo-Colunga, Juan; Rey, Corsino; González, Soledad; Concha, Andrés

    2008-01-01

    Introduction Hemophagocytic syndrome (HFS) is a potentially lethal disorder due to an uncontrolled immune response to a triggering agent. Our objective is to raise the importance of HFS early diagnosis by presenting a representative case. Case presentation A sixteen-year-old girl with Still disease diagnosis developed a progressive multiorgan failure including acute respiratory distress (ARDS), anemia and thrombopenia, elevated liver enzymes, renal failure, coagulopathy with hypofibrinogenemia, and acute phase reactants elevation despite broad-spectrum antibiotics. A bone marrow puncture-biopsy was performed, and hemophagocytosis was found. Prolonged fever, splenomegaly, bicytopenia, hypofibrinogenemia, hyperferritinemia and hypertriglyceridemia confirmed HFS diagnosis. She received intensive care support therapy including mechanical ventilation and specific therapy according to HLH 2004 protocol, with a very good response. Conclusion Our case shows complexity of HFS diagnosis, due to septic shock-like manifestations. Early diagnosis is essential to start appropriate treatment achieving a better outcome. PMID:18834507

  1. 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

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

    PubMed

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

    2015-12-01

    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

  3. 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

  4. Postural orthostatic tachycardia syndrome after surgical correction of an aortic coarctation: a case report

    PubMed Central

    2012-01-01

    Introduction We report a case of postural tachycardia syndrome occurring after the surgical correction of an aortic coarctation, and coexisting with upper airway resistance syndrome. Case presentation A 29-year-old Caucasian man complained of extreme fatigue, daytime sleepiness, shortness of breath on exertion, light-headedness and general weakness on standing. These symptoms began shortly after the surgical correction of an aortic coarctation and became progressively more debilitating, impairing any daily activity. An extensive work-up revealed postural tachycardia syndrome and a coexisting sleep-related breathing disorder, characterized as upper airway resistance syndrome. Conclusion This is the first reported case describing the occurrence of postural tachycardia syndrome after the surgical correction of an aortic coarctation. This case also provides evidence for the suggestion that this syndrome may coexist with upper airway resistance syndrome, although the exact nature of their relationship must still be better established. PMID:22889291

  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. PMID:25163580

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

    PubMed Central

    Arnold, Paul M.; Teuber, Jan

    2013-01-01

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

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

    PubMed

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

    2010-01-01

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

  8. The deletion 22q13 syndrome: a new case.

    PubMed

    Karaman, A; Aydin, H; Geçkinli, B; Göksu, K

    2015-01-01

    The deletion 22q13.3 syndrome (Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autisticlike with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The present case was referred at the age of 8 months because of delayed psychomotor development, hypotonia and autistic features. Clinical examination showed a small forehead, long eyelashes, epicanthal folds and lowset ears, large and broad hands and feet with short terminal phalanges. He had no eye contact and could not sit without support. PMID:26043508

  9. A Case of IFAP Syndrome with Severe Atopic Dermatitis

    PubMed Central

    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

  10. 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

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

    PubMed Central

    Tasman, A. J.

    2015-01-01

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

  12. [Invasive Streptococcus pneumoniae infection (Austrian syndrome): a case report].

    PubMed

    Echeverri, Daniel; Vargas, María de los Ángeles; Matta, Lorena; Rosso, Fernando; Segura, Janier Daniel

    2015-01-01

    Austrian syndrome is defined as the triad consisting of pneumonia, endocarditis and meningitis due to invasive Streptococcus pneumoniae infection. Few case reports have been reported since its first description in 1975 by Robert Austrian, mainly because it is rarely observed. Below we report the case of a 61 year-old male patient who presented with bacterial meningitis due S. pneumoniae followed by bacterial pneumonia and severe mitral regurgitation, associated with four vegetations on the atrial surface of the posterior mitral leaflet; in addition, there was rupture and prolapse of its middle scallop. The S. pneumoniae bacterium was isolated from cerebrospinal fluid and blood cultures. In consequence, the patient was given broad-spectrum antibiotic therapy and had an early valve replacement performed, obtaining a good clinical outcome. The key prognostic factor of the Austrian syndrome is determined by the damage of cardiac valves, particularly in patients with a compromised aortic valve; hence, it is necessary to identify the degree of valve injury and define surgical and antibiotic treatment on a timely fashion. However, in subacute, less frequent clinical cases where the mitral valve is the main valve compromised, usually a directed antibiotic therapy associated with advanced support measures are sufficient to control this infection. PMID:26148029

  13. More on ‘No Gut Syndrome’: A case report

    PubMed Central

    Jain, Varun; Huerta, Sergio

    2015-01-01

    Introduction No Gut Syndrome refers to a condition which results after a near total enterectomy (NTE) has been performed. These patients are unable to sustain life without life-long parenteral nutrition (PN). Re-establishment of bowel continuity, complications, quality of life (QoL), and overall outcomes are important aspects to be considered in patients who might need a NTE. We have previously reported two similar cases as well as a literature review in patients with No Gut Syndrome. In the present report, we present an additional case and an update of the literature. Presentation of the case A 62-year old man with multiple co-morbidities presented with features of acute small bowel obstruction. Exploratory laparotomy revealed severe mesenteric ischemia and extensive small bowel necrosis. Patient eventually underwent a NTE and was discharged on parenteral nutrition. Discussion Near total enterectomy (NTE) is a clinical condition in which a patient is left without or with minimal length of small bowel along with either gastrointestinal continuity or exteriorization of the proximal end. This condition has remained a dilemma for surgeons worldwide chiefly as a result of its perceived incompatibility with life. There are only a few available options for proceeding with treatment, however maintenance on long term parenteral nutrition has shown promising results. Conclusion Long term parenteral nutrition serves as a viable treatment option for managing patients after a NTE. PMID:26708947

  14. First Bite Syndrome After Bilateral Temporomandibular Joint Replacement: Case Report.

    PubMed

    Alwanni, Nada; Altay, Mehmet Ali; Baur, Dale A; Quereshy, Faisal A

    2016-03-01

    First bite syndrome (FBS) refers to intense pain in the parotid region, which coincides with the first bite of every meal, gradually subsides over the next several bites, but returns with the first bite of the next meal. The definitive diagnosis can be readily established by the characteristic onset of pain after the first bite of every meal. Pain is typically most intense at the first meal of the day, although some patients experience symptoms when thinking of food or salivating. FBS is a recognized complication of surgery within the parapharyngeal space; however, other surgical procedures involving the upper neck have been associated with this syndrome. The extreme rarity of FBS complicates a thorough understanding of its pathophysiology. Various medical agents have been used, with variable success, for the management of patients with FBS. Although proved effective, more radical treatment modalities are commonly reserved for persistent or refractory cases, because there is potential of spontaneous decrease in the severity of symptoms with time. This report describes the case of a patient presenting with symptoms of FBS after bilateral temporomandibular joint replacement. To the authors' knowledge, this is the first case of FBS in the literature occurring after temporomandibular joint replacement. PMID:26518528

  15. Neurological presentations of the antiphospholipid syndrome: three illustrative cases.

    PubMed

    De Maeseneire, Ch; Duray, M C; Rutgers, M P; Gille, M

    2014-06-01

    The antiphospholipid syndrome (APS) is defined by the association of high titers of antiphospholipid antibodies (aPLs) with thrombotic events and/or obstetrical problems. APS can be isolated or associated with immune system diseases. Several central nervous system (CNS) manifestations have been reported in APS, but are still not included in the international diagnostic criteria. We present here three cases of APS revealed by CNS manifestations. The first patient had a primary APS with stroke, dementia, epilepsy and the "so-called" Liebman-Sacks disease, a subacute thrombotic non-bacterial valvulopathy. The second one developed a primary APS with a Sneddon syndrome, while the third case is a neurolupus-associated APS with subacute encephalopathy, chorea, stroke, and epilepsy. The pathogenesis of the APS is related to both prothrombotic and immunologic effects of the aPLs. Long-term anticoagulation by low-weight heparin or warfarin is currently recommended in APS. We propose to search the presence of aPLs in any case of young adults' stroke, unexplained dementia, and acquired chorea. PMID:24464766

  16. Tinea Incognita in a Patient with Crest Syndrome: Case Report.

    PubMed

    Gorgievska-Sukarovska, Biljana; Skerlev, Mihael; Žele-Star?evi?, Lidija

    2015-09-01

    Tinea incognita is a dermatophytic infection that is difficult to diagnose, usually modified by inappropriate topical or systemic corticosteroid therapy. We report an extensive case of tinea incognita caused by the zoophilic dermatophyte Trichophyton mentagrophytes (var. granulosa) in a 49-year-old female patient with CREST (Calcinosis; Raynaud phenomenon; Esophageal involvement; Sclerodactyly; Teleangiectasia) syndrome. Immunocompromised patients, as well as patients with keratinization disorders, seem to be especially susceptible to dermatophytic infections with atypical clinical presentation that is sometimes bizarre and difficult to recognize. Therefore, close monitoring and mycological skin examination is recommended in order to avoid misdiagnosis and to give the patient the best chance of recovery. PMID:26476904

  17. Morning glory syndrome: clinical and electrofunctional study of three cases.

    PubMed Central

    Giuffrè, G

    1986-01-01

    Three cases of morning glory syndrome are described and some new electrofunctional and tomodensitometric findings are reported. The amplitude of the waves of the electroretinogram is reduced and correlates with the extension of the retinal changes. The visually evoked potentials elicited with bright flashes have normal latencies but generally subnormal amplitudes. The amplitude of the potentials probably depends on the degree of involvement of the optic nerve. The computerised tomography performed in one patient disclosed undescribed changes in the retrobulbar optic nerve. Images PMID:3954983

  18. Guillain-Barré syndrome following chickenpox: a case series.

    PubMed

    Tatarelli, P; Garnero, M; Del Bono, V; Camera, M; Schenone, A; Grandis, M; Benedetti, L; Viscoli, C

    2016-05-01

    Guillain-Barré syndrome (GBS) is an acute, immune-mediated polyradiculoneuropathy, usually triggered by an infectious episode, mostly of viral origin. Varicella zoster virus (VZV) is a rare cause of GBS, mainly in the case of latent infection reactivation. We report on three adult patients who developed GBS following chickenpox, after a short period of latency. They were promptly treated with intravenous immunoglobulin, and the first one with plasma exchange additionally. All the patients experienced almost complete clinical recovery. Our experience suggests that primary VZV infection constitutes a GBS triggering event. PMID:26000930

  19. 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

  20. A curious case of acute respiratory distress syndrome

    PubMed Central

    Crawford, Todd C.; Grimm, Joshua C.; Magruder, J. Trent; Stephens, R. Scott; Sciortino, Christopher M.; Vaught, A. Jason; Althaus, Janyne; Shah, Ashish S.; Kim, Bo S.

    2015-01-01

    Gestational acute respiratory distress syndrome (ARDS) is a complicated problem with the potential to gravely harm both mother and fetus. This case report describes a young woman in her second trimester of pregnancy who developed progressive respiratory failure in the setting of newly diagnosed influenza, diffuse alveolar hemorrhage and lymphangioleiomyomatosis. The patient's condition was refractory to conventional interventions and required extracorporeal membrane oxygenation (ECMO) support. Her course was further complicated by preeclampsia requiring preterm delivery with cesarean section while on ECMO. Through novel therapies and a multidisciplinary approach to care, both the patient and her child would overcome these unique and challenging conditions and survive. PMID:26552407

  1. Sonozaki syndrome: case report and review of literature.

    PubMed

    Brzezi?ska-Wcis?o, Ligia; Bergler-Czop, Beata; Lis-?wi?ty, Anna

    2012-02-01

    Sonozaki syndrome--pustulotic arthro-osteitis (PAO) is a relatively rare, chronic illness. This disease belongs to the group of psoriatic arthritis (psoriasis arthropatica, artropatia psoriatica) which in turn belongs to the group of seronegative arthritis. Sonozaki syndrome includes palmoplantar pustulosis, PPP as well as arthro-osteitis. Clinically, symmetrically localised pustulae are observed on feet and hands. Effected joints are painful, swollen with a visible inflammation. Here, we describe a case of a woman aged 55 with a diagnosis of Sonozaki syndrome and hyperthyroidism. At the moment of admission multiple changes in the form of pustulae were observed on hands and soles, filled with pus and blood of the erythemal basis. Oral and genital mucosa were free from changes. The oedema within clavicle and sternum joints was without features of the severe inflammation and tactical tenderness. In additional tests, increased BSR 36/62 was found. Bone scintigraphy-focuses of increased accumulation of MDP-Tc-99 m were found in the sternal projection of the clavicle ends at both sides, and the left-side change is bigger and more strongly saturated and can probably progress to the sternum's manubrium. As a result of the used treatment during hospitalisation, (cyclosporine 3 mg/kg and steroid external therapy upon the skin changes) the improvement of the local changes was observed as well as no progression in the joints' changes. At the moment, the patient is treated in the dermatological and rheumatological out-clinic. Early and correct diagnostics allows for efficient treatment of Sonozaki syndrome and decreases the risk of potential complications, such as the described systemic amyloidosis. PMID:20049447

  2. 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…

  3. 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…

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

    PubMed

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

    2014-12-01

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

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

    PubMed

    Howe, G; Srinivasan, M

    1999-01-01

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

  6. Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature.

    PubMed

    Alessandri, L; Brayer, C; Attali, T; Samperiz, S; Tiran-Rajaofera, I; Ramful, D; Pilorget, H

    2005-01-01

    Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by coarse facies, diaphragmatic hernia, distal limb hypoplasia and malformations of the cardiovascular, gastrointestinal, genitourinary and central nervous systems. Diaphragmatic hernia is a leading diagnostic feature in Fryns syndrome, recorded in more than 80% of cases. We report a newborn with clinical features of Fryns syndrome except the diaphragmatic hernia. Cases of Fryns syndrome without diaphragmatic hernia are reviewed. Even in the absence of diaphragmatic hernia, pulmonary anomalies are described in Fryns syndrome, especially pulmonary hypoplasia. Fetal mice, exposed to nitrofen, have a high incidence of congenital diaphragmatic hernia and other malformations similar to that seen in Fryns syndrome. Nitrofen might target molecular mechanisms similar to those involved in Fryns syndrome. PMID:16440878

  7. 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

  8. 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

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

    PubMed

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

    2015-06-13

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

  10. Capillary leakage syndrome: a case report and a review.

    PubMed

    Garcês, S; Araújo, F; Rego, F; Soares, J L Ducla; Carlos, A G Palma

    2002-12-01

    Capillary leakage Syndrome (CLS) is a rare clinical syndrome, that was first described in 1960, characterized by acute episodes of generalized edema, hemoconcentration, hypoproteinemia and monoclonal gammopathy, in the vast majority of cases. We describe a 39-year-old man with anasarca, bilateral pleural and pericardial effusions, ascites and diffuse alveolo-intersticial edema. Clinical and laboratory findings were consistent with an acute episode of CLS. Treatment with prednisone, furosemide and aminophylline was started, which lead to a gradual improvement in 48 hours. Pathophysiologically there is an increase in capillary permeability with the extravasation of fluid and plasmatic proteins to the extravascular space that can lead to hypovolaemic shock. In the second phase there is a reentry of the fluid overload leading to pulmonary edema. The etiology of this hyperpermeability still remains unclear. The role of cytokines has become central in the comprehension of pathophysiology of CLS. Adhesion molecules are probably also involved in the genesis of capillary leakage. CLS treatment remains empirical. However, at present it seems that the association of steroids with furosemide, aminophylline and terbutaline are capable of controlling the clinical manifestation of the acute episodes in most cases. To our knowledge no prophylatic therapy has clearly proven its efficacy. There are only a few series analyzing the long-term evolution of patients with CLS. Further studies are necessary with the objective to collect enough patients with CLS to observe natural history of the disease and evaluate the efficacy of empiric treatments. PMID:12575619

  11. Right subclavian double steal syndrome: a case report

    PubMed Central

    Filis, Konstantinos; Toufektzian, Levon; Sigala, Frangiska; Kardoulas, Dimitrios; Kotzadimitriou, Aikaterini; Lagoudianakis, Emmanuel; Koronakis, Nikolaos; Manouras, Andreas

    2008-01-01

    Introduction Double-steal syndrome represents a causative factor for blood flow compromise of the cerebral vascular bed with transient neurologic symptoms. We present the case of a patient with innominate artery atherosclerotic occlusion, manifested as blood flow reversal in the vertebral and common carotid arteries. Symptomatic atherosclerotic occlusive disease of the innominate artery is relatively rare and represents less than 2% of all extracranial causes of cerebrovascular insufficiency. Case presentation We report on a 73-year-old male patient who presented at our hospital for the evaluation of dizziness and episodes of syncope. Angiography and color Doppler examinations documented the double syndrome as retrograde flow in the right vertebral artery and the right carotid artery. Conclusion Constituting an indication for surgical correction, his condition was managed with the performance of carotid-carotid extra-anatomic bypass for the permanent reestablishment of antegrade blood flow in the vascular network supplying the brain. Carotid-carotid extra-anatomic bypass was a good option for our patient, since he remains symptom free after one year of follow up. PMID:19108708

  12. Acute profound deafness in Ramsay Hunt syndrome. Two case reports.

    PubMed

    Hiraide, F; Kakoi, H; Miyoshi, S; Morita, M

    1988-01-01

    Two patients with sudden progressive profound hearing loss resulting from Ramsay Hunt syndrome are reported. Case 1: A 63-year-old woman was admitted to Jichi Medical School Hospital with sudden, progressing deafness of the left ear, vertigo, sore throat, and hoarseness. An otoscopic examination revealed the external ear and the tympanic membrane to be normal. Pure-tone audiometry revealed profound deafness in the left ear. A horizontal nystagmus in the non-affected direction was observed by gaze nystagmus test. An endoscopic examination revealed herpetic vesicles and shallow ulcers on the left side of the pharynx and the larynx. There was complete paralysis of the left recurrent nerve. Hearing acuity of the left ear did not recover at all with steroid hormone therapy. Case 2: A 75-year-old man was referred to the ENT Clinic by a dermatologist for hearing evaluation in Ramsay Hunt syndrome. The man had noticed severe otalgia and sudden progressive deafness of the right ear approximately 2 weeks prior to admission. Physical examination revealed herpetic vesicles and ulcers in the right external ear and lateral neck. Complete paralysis of the right facial nerve was noted. Profound hearing loss in the affected ear was observed by pure-tone audiometry. A gaze nystagmus test revealed a horizontal nystagmus in the non-affected direction. No recovery of the cochlear function was noted following administration of antiviral drug. The pertinent literature is briefly reviewed. PMID:2852431

  13. 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

  14. Pediatric Ramsay Hunt Syndrome: Analysis of Three Cases

    PubMed Central

    Aydo?du, ?mran; Ataç, Enes; Saltürk, Ziya; Atar, Yavuz; Özdemir, Erdi; Uyar, Yavuz; Arslano?lu, 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

  15. Two cases of successful pregnancy in patients with Gitelman's syndrome.

    PubMed

    Waguespack, Dia R; Kasekar, Riyaj; Abdel-Kader, Khaled; Fissell, Rachel B

    2015-11-01

    Gitelman's syndrome (GS) is a distal convoluted tubule (DCT) defect clinically characterized by hypokalemic metabolic alkalosis. Pregnancy in women with GS often results in severe hypomagnesemia and hypokalemia. We report two cases of successful pregnancies, after previous fetal loss, in patients with GS managed with aggressive oral and intravenous electrolyte repletion. These cases illustrate increased potassium and magnesium requirements over the course of the pregnancies and are notable due to the high doses of electrolytes required. They also demonstrate the possibility of successful pregnancy outcomes with frequent laboratory monitoring and aggressive titration of electrolyte replacement either orally or intravenously to maintain appropriate serum levels necessary to provide a suitable environment for fetal development. PMID:26109196

  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. Ectodermal Dysplasia-Skin Fragility Syndrome: A Rare Case Report.

    PubMed

    Kashyap, Subhash; Shanker, Vinay; Sharma, Neelam

    2015-01-01

    Ectodermal dysplasia/skin fragility syndrome (ED-SFS) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1), which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Only 12 cases of this rare genodermatosis have been reported so far. We present an unusual case of ED-SFS in a 12-year boy who was normal at birth but subsequently developed skin fragility, hair and nail deformities, abnormal dentition, palmoplantar keratoderma, and abnormal sweating but no systemic abnormality. PMID:26288439

  18. 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

  19. Case of posterior reversible encephalopathy syndrome due to azathioprine.

    PubMed

    Ogawa, Ryo; Oikawa, Takanori; Shijo, Tomomi; Kanno, Shigenori; Shibuya, Satoshi; Mochizuki, Hiroshi

    2015-12-23

    This report describes a 15-year-old woman presenting posterior reversible encephalopathy syndrome (PRES) due to azathioprine. She was under treatment for ulcerative colitis. She was prescribed azathioprine seven days before admission. Four days after, she complained of headache. Then, she disturbed consciousness and showed generalized convulsive seizure on the day of admission. Magnetic resonance imaging (MRI) revealed vasogenic edema in both hemispheres. She was discontinued azathioprine and treated by anticonvulsant. Her symptoms were recovered and the MRI findings were disappeared. We diagnosed as PRES due to azathioprine because of clinical course and MRI findings. Only one case of PRES due to azathioprine is reported previously. Our case is the first report that showed the changes and improvement of MRI findings along the clinical course. PMID:26511023

  20. Six new cases of a caterpillar-induced bleeding syndrome.

    PubMed

    Arocha-Piñango, C L; de Bosch, N B; Torres, A; Goldstein, C; Nouel, A; Argüello, A; Carvajal, Z; Guerrero, B; Ojeda, A; Rodriguez, A

    1992-04-01

    We describe six new cases of a hemorrhagic diathesis induced by contact with Lonomia achelous caterpillars. Onset of clinical bleeding varied between a few hours and 10 days post-exposure. Laboratory coagulation tests showed prolonged PT, PTT and ThT; normal platelets and a marked decrease of fibrinogen, factor V, plasminogen and factor XIII (including its subunits A and S). Factors VII, II and alfa 2 anti-plasmin were variably affected. In addition, activation of the fibrinolytic system and the generation of a procoagulant effect could also be demonstrated. Two cases developed severe hemorrhagic diathesis and one of them died of a cerebral hemorrhage. Different aspects of this rare syndrome are discussed in relation to its complex physiopathology and the variability observed in all clinical and laboratory manifestations. Therapeutic recommendations and some possible hazards following replacement transfusions are also considered. PMID:1378651

  1. Chediak-Higashi Syndrome: A Case Series from Karnataka, India

    PubMed Central

    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. Preejaculatory illness syndrome: Two cases of a rare psychosomatic disorder.

    PubMed

    Mohsen, Adel; Elawdy, Mohamed Mohamed; Faix, Antoine

    2016-01-01

    Human ejaculation happens in the orgasmic phase of the human sexual response cycle. Among psychosomatic ejaculatory disorders that may happen before ejaculation, we present two cases of preejaculatory illness syndrome. The two cases shared common symptoms of sympathetic over activity, the sensation of impending death, and muscle atonia with subsequent failure to ejaculate. Depression, anxiety disorders, and family histories of psychiatric problems were noticed as risk factors. Medical conditions that may lead to panic attack type symptoms were eliminated before the final diagnosis. After the failure of empirical medications, symptoms became controlled with fluoxetine. Patients reported a recurrence of the symptoms on trying to stop the prescribed medication. On the last follow-up, they still take fluoxetine on a regular base with satisfactory sexual life. PMID:26834413

  3. Preejaculatory illness syndrome: Two cases of a rare psychosomatic disorder

    PubMed Central

    Mohsen, Adel; Elawdy, Mohamed Mohamed; Faix, Antoine

    2016-01-01

    Human ejaculation happens in the orgasmic phase of the human sexual response cycle. Among psychosomatic ejaculatory disorders that may happen before ejaculation, we present two cases of preejaculatory illness syndrome. The two cases shared common symptoms of sympathetic over activity, the sensation of impending death, and muscle atonia with subsequent failure to ejaculate. Depression, anxiety disorders, and family histories of psychiatric problems were noticed as risk factors. Medical conditions that may lead to panic attack type symptoms were eliminated before the final diagnosis. After the failure of empirical medications, symptoms became controlled with fluoxetine. Patients reported a recurrence of the symptoms on trying to stop the prescribed medication. On the last follow-up, they still take fluoxetine on a regular base with satisfactory sexual life. PMID:26834413

  4. [Atypical "body packing syndrome"--a case report].

    PubMed

    Brück, Simon; Risse, Manfred; Schütz, Harald; Weiler, Günter; Verhoff, Marcell A

    2006-01-01

    A case of ingested cocaine is reported in which death must be classified as body packer syndrome although both the temporal relationship and the number of packets were atypical. The deceased, a consumer of hard drugs who smuggled for his own use, was found in his flat. He was resuscitated and survived for another four days in hospital. Only four intact drug packages were found in the upper gastro-intestinal tract. The concentrations of cocaine in blood and organs were relatively low but in a potentially lethal range. The case is presented, and its particularities as well as the option of induced vomiting as a way of preventing the fatal outcome are discussed. PMID:16948259

  5. Ectodermal Dysplasia-Skin Fragility Syndrome: A Rare Case Report

    PubMed Central

    Kashyap, Subhash; Shanker, Vinay; Sharma, Neelam

    2015-01-01

    Ectodermal dysplasia/skin fragility syndrome (ED-SFS) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1), which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Only 12 cases of this rare genodermatosis have been reported so far. We present an unusual case of ED-SFS in a 12-year boy who was normal at birth but subsequently developed skin fragility, hair and nail deformities, abnormal dentition, palmoplantar keratoderma, and abnormal sweating but no systemic abnormality. PMID:26288439

  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. PMID:18541220

  7. [A case of relapsing Guillain-Barré syndrome following Miller Fisher syndrome].

    PubMed

    Mochizuki, A; Ota, K; Iijima, M; Yamauchi, T; Iwata, M

    1996-05-01

    Miller Fisher syndrome (FS) is thought to be a variant of Gullain-Barré syndrome (GBS), both of which rarely relapse. We report a rare case of GBS that followed FS. A 38-year-old woman had ophthalmoplegia, ataxia and areflexia following an upper respiratory tract infection with a diagnosis of FS. Serum anti-GQ1b IgG antibody was found to be increased, but decreased through immunoadsorption as the neurological symptoms of the patient improved. She became completely asymptomatic three months after the onset of FS. Following a common cold two months later, however, she developed weakness of all four limbs and dysesthesia of hands and feet with albuminocytologic dissociation of cerebrospinal fluid, which was consistent with the diagnosis of GBS. Moreover, serum anti-GQ1b IgG antibody had increased again. Anti-GQ1b IgG antibody frequently becomes positive not only in FS but also GBS with ophthalmoplegia. However, the antibody was positive in this particular patient with GBS, even in the absence of ophthalmoplegia. This case suggests that anti-GQ1b IgG antibody might be a common pathogenesis of both FS and GBS. PMID:8905988

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

    PubMed Central

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

    2014-01-01

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

  9. Diogenes syndrome or isolated syllogomania? Four heterogeneous clinical cases.

    PubMed

    Zuliani, Giovanni; Soavi, Cecilia; Dainese, Anna; Milani, Paola; Gatti, Marino

    2013-08-01

    Diogenes syndrome (DS) is an acquired behavioural disturbance more often affecting elderly patients, but possible in all ages. It is characterised by social withdrawal, extreme self and house neglect, tendency to hoard any kind of objects/rubbish (syllogomania), and rejection against external help for lack of concern about one's condition. It is considered infrequent, but with quite high mortality. DS might be divided into several forms including Active (the patient gathers objects outside and accumulates them inside his house), Passive (patient invaded by his own rubbish), "à deux" (DS sharing between two people), and "under-threshold" (DS "blocked" by precocious intervention). Four cases are here presented. In case 1 (passive DS) alcoholism and cognitive impairment could be trigger factors for DS, predisposed by a "personality alteration". In case 2 (active, "à trois") superimposed psychosis could be the trigger, borderline intelligence being the predisposing factor. In case 3 (active), fronto-parietal internal hyperostosis might support an organic aetiology. Finally, case 4 was an example of isolated syllogomania in patient with evolving Alzheimer's dementia. Despite being heterogeneous, our casuistry suggest that DS can develop in both sexes, is prevalent in geriatric age and often associated with cognitive impairment/psychiatric disturbances, which are not specific, nor sufficient to justify DS. Isolated syllogomania only shares the characteristic hoarding with DS; although cognitive impairment might be present, the other DS typical aspects (social isolation, help refusal, characterial aspects, personal hygiene neglect) are absent. PMID:23846849

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

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

    2013-01-01

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

  12. Hyper Ig E syndrome (Job syndrome, HIES) – radiological images of pulmonary complications on the basis of three cases

    PubMed Central

    Jo?czyk-Potoczna, Katarzyna; Szczawi?ska-Pop?onyk, Aleksandra; Warzywoda, Ma?gorzata; Br?borowicz, Anna; Pawlak, Bogdan

    2012-01-01

    Summary Background: Hyperimmunoglobulinemia E syndrome (hyper-IgE syndrome, Job syndrome, HIES) is a complex immune deficiency with multiorgan clinical manifestations and diverse genetic background. The clinical triad of symptoms observed in approximately 75% of patients with HIES includes: recurrent abscesses of staphylococcal etiology, recurrent respiratory infections and elevated immunoglobulin E in serum. Case Report: The paper discusses three cases of female patients presenting typical pulmonary complications of the hyper-Ig E syndrome. In the first case, the development of aspergilloma in a postinflamatory cyst was observed, in the other one, pneumonia with pleural effusion, and as a consequence of inflammatory infiltrations – fibrotic changes, giving rise to lobectomy, while in the last of these cases, the course of lung disease was complicated by formation of staphylococcal abscess. In one of the girls, bronchiectasis appeared at follow-up. Conclusions: Complications of pulmonary infections are the most common causes of death in hyper-Ig E syndrome. Late diagnosis significantly worsens the respiratory function and reduces the chance for normal development of a child. Introduction of comprehensive treatment, including prophylaxis, decreases the recurrences. Therefore, the important role is attributed to the radiologist in the multidisciplinary care of patients with this syndrome. PMID:22844313

  13. Crouzon syndrome with primary optic nerve atrophy and normal brain functions: A case report

    PubMed Central

    Pal, Uma Shankar; Gupta, Chandan; Chellappa, Arul A.L.

    2012-01-01

    Background This report and review of literature aimed to assess an unusual case of Crouzon syndrome characterized by distinctive disfigurement of craniofacial skeletal and soft tissue structures with primary optic nerve atropy. Methods We present a case of a 12-year-old girl with Crouzon syndrome displaying classic facial abnormalities with reduced vision and hearing loss. Conclusion Crouzon syndrome should be managed as early as possible as it results in airway obstruction, decreased vision, mental retardation and poor cosmetic appearance. PMID:25737846

  14. 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 recombinant insulin-like growth factor 1 demonstrates effectiveness, and a combination treatment with insulin-like growth factor binding protein 3 resulted in an increased lifespan. There is a scarcity of genetic information on DS among the Arab population. Consanguinity is one of underlying reasons for the appearance of rare genetic disorders. Inbreeding has long been considered a controversial phenomenon. Genetic counseling and overwhelming the alertness of the negative consequences of consanguinity on public health are warranted. PMID:26871809

  15. A case of maternal PKU syndrome despite intensive patient counseling.

    PubMed

    Unger, Susette; Weigel, Johannes F W; Stepan, Holger; Baerwald, Christoph G O

    2009-10-01

    We report on a 21-year-old woman with classic phenylketonuria, who presented at our outpatient clinic at week 14 of pregnancy. Despite intensive preconceptional counselling about the risk of raised Phenylalanine (Phe) levels for the offspring and nutritional consultations about the necessity to be on a Phe-restricted diet she had elevated blood Phe concentrations. Phe level could be lowered to the recommended range during a stay as an inpatient, but the patient was not able to maintain the recommended levels due to non-compliance. The patient delivered a newborn with classic maternal PKU syndrome (microcephaly, brachygnathia, congenital heart defect and psychomotoric retardation), which is nowadays rarely seen under preconceptional Phe-restricted diet. With more PKU patients reaching the childbearing age, intensive preconception counselling about maternal PKU syndrome is of pivotal importance for the women. However, a major factor in preventing Phe embryopathy is patient compliance in keeping the diet, which was insufficient in the case presented. PMID:19898791

  16. 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

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

    PubMed

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

    2015-04-01

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

  18. How I manage Evans Syndrome and AIHA cases in children.

    PubMed

    Miano, Maurizio

    2016-02-01

    The management of Evans Syndrome in children is challenging due to the lack of evidence-based data on treatment. Steroids, the first-choice therapy, are successful in about 80% of cases. For children who are resistant, relapse or become steroid-dependent, rituximab is considered a valid second-line treatment, with the exception of those with an underlying diagnosis of autoimmune lymphoproliferative syndrome who may benefit from other options such as mycophenolate mofetil and sirolimus. Better knowledge of the immunological mechanisms underlying cytopenias and the availability of new immunosuppressive drugs can be helpful in the choice of more targeted therapies that would enable the reduction of the use of long-term steroid administration or other more aggressive options, such as splenectomy or stem cell transplantation. This manuscript provides an overview of the pathogenic background of the disease, and suggests a clinical approach to diagnosis and treatment with a particular focus on the management of relapsing/resistant disease. PMID:26625877

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

    PubMed

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

    2011-03-01

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

  20. De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report

    PubMed Central

    2009-01-01

    Introduction Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. Case presentation We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and hyperaldosteronism. The patient's evolution showed progressive insufficiency of the renal tubule: hyperphosphaturia, hyperaminoaciduria and, later, glucosuria (de Toni-Debré-Fanconi syndrome), a syndrome, to date, rarely diagnosed in association with complete Kearns-Sayre syndrome. The final diagnosis was delayed for several years and was only established when he developed diabetes mellitus. Southern blot analysis and polymerase chain reaction amplification revealed the presence of a deletion in the mitochondrial DNA. Conclusion Despite the rarity of this syndrome, the diagnosis was easily made due to the presence of the classic triad: external ophthalmoplegia, pigmentary retinopathy and onset in a patient younger than 20 years old. In our opinion, a search for Kearns-Sayre syndrome in all patients with de Toni-Debré-Fanconi syndrome is a valuable medical routine. PMID:19946579

  1. [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

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

    ERIC Educational Resources Information Center

    Lotan, Meir; Roth, Dana

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

  3. Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review

    PubMed Central

    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

  4. 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

  5. A case of fisher-bickerstaff syndrome overlapped by guillain-barré syndrome.

    PubMed

    Fujii, Daiki; Manabe, Yasuhiro; Takahasi, Yosiaki; Narai, Hisashi; Omori, Nobuhiko; Kusunoki, Susumu; Abe, Koji

    2012-09-01

    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

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

    PubMed

    Kulkarni, Arvind G; Shah, Siddharth M

    2011-09-01

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

  7. Anisometropic amblyopia in a case of type 2 Waardenburg syndrome

    PubMed Central

    Akal, Ali; Göncü, Tugba; Boyaci, Nurefsan; Y?lmaz, Ömer Faruk

    2013-01-01

    This study presents a case of an 8-year-old boy with iris heterochromia and anisometropic amblyopia who was diagnosed with Waardenburg syndrome (WS) type 2. An ophthalmic examination revealed iris heterochromia and anisometropic amblyopia in our patient. In the systemic examination, a white forelock and vitiligo on the arms and body were observed and neurosensory hearing loss was revealed, for which the patient used hearing aids. Identification and typing of patients with WS is crucial to address neurosensory hearing loss, glaucoma and fundus changes. While it might be challenging to communicate with a patient with speech and hearing problems, visual acuity should be examined carefully and probable amblyopia should be identified. Anterior segment changes and signs of glaucoma should also be evaluated in detail. PMID:24351514

  8. 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

  9. An atypical case of neuroleptic malignant syndrome precipitated by valproate.

    PubMed

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

    2014-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  11. 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. PMID:26695216

  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. PMID:26440687

  13. 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

  14. A case of Ramsay Hunt syndrome diagnosed after kidney transplantation.

    PubMed

    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

    2015-12-01

    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

  15. Ogilvie's syndrome in a case of myxedema coma

    PubMed Central

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

    2012-01-01

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

  16. It's not always varicocele: A strange case of Zinner syndrome.

    PubMed

    Pavan, Nicola; Bucci, Stefano; Mazzon, Giorgio; Bertolotto, Michele; Trombetta, Carlo; Liguori, Giovanni

    2015-01-01

    A 42-year-old man presented with a huge varicocele. The patient was completely asymptomatic and he did not complain of dysuria, perineal discomfort, or ejaculatory pain. During the visit, the mass mimicked a varicocele and during the Valsalva maneuver a reflux was documented by colour Doppler ultrasound and an abdominal ultrasound revealed an agenesis of the right kidney and a 4.5-cm diameter intra-prostatic cyst. An abdominal and pelvis magnetic resonance imaging was then performed, which confirmed the right renal agenesis, with an epididymal enlargement in the body and tail. This is a unique case of Zinner syndrome in which the patient presented with a paratesticular mass mimicking a varicocele. PMID:26279734

  17. Hypereosinophilic Syndrome: A Case of Fatal Löffler Endocarditis

    PubMed Central

    Baltazares-Lipp, Mario Enrique; Soto-González, Juan Ignacio; Aboitiz-Rivera, Carlos Manuel; Carmona-Ruíz, Héctor A.; Ortega, Benito Sarabia; Blachman-Braun, Ruben

    2016-01-01

    Hypereosinophilic syndrome (HES) is a rare disorder with unknown global prevalence, barely reported in Hispanic population, and characterized by persistent eosinophilia in association with organ dysfunctions directly attributable to eosinophilic infiltration. Cardiac involvement may be present in 50 to 60% of the patients. This is known as Löffler endocarditis. We present a case of a 36-year-old Hispanic man with signs of heart failure. Laboratory studies showed eosinophilia (23,100/μL). Thoracic computer tomography showed bilateral pleural effusion and a large left ventricular mass. Transthoracic echocardiography showed left ventricle apical obliteration and a restrictive pattern. Pulmonary angiography demonstrated a thrombus in the lingular and middle lobe. Despite treatment, the patient deceased seven days after admission. Autopsy confirmed the diagnosis of Löffler endocarditis. PMID:26904305

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

    PubMed

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

    2009-01-01

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

  19. [Ballantyne syndrome caused by materno-fetal Parvovirus B19 infection: about two cases].

    PubMed

    Desvignes, F; Bourdel, N; Laurichesse-Delmas, H; Savary, D; Gallot, D

    2011-05-01

    Ballantyne's syndrome also known as Mirror syndrome is the association of fetal hydrops and maternal hydric retention. The maternal condition is often misdiagnosed as preeclampsia. We report two cases of Ballantyne syndrome associated with materno-fetal Parvovirus B19 infection. In the first case, the syndrome occurred at 26GW in a context of premature rupture of membranes. Parents and medical staff opted for termination of pregnancy because of the poor fetal prognosis. Maternal symptoms regressed after delivery. In the second case, the patient presented a Ballantyne's syndrome at 25GW. Intrauterine transfusions reversed symptomatology. Fetal hydrops of any etiology can be associated with this syndrome. Specific treatment of the fetus can avoid maternal complication allowing continuation of the pregnancy. PMID:21273007

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

    PubMed

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

    2004-01-01

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

  1. Resident Rounds: Part III - Case Report: A Non-Syndromic Case of Multiple Unilateral Nodular and Pigmented Basal Cell Carcinomas.

    PubMed

    Weiss, Jonathan; Van Driessche, Freya; Wei, Erin X; Shabbir, Arsalan

    2015-06-01

    Although basal cell carcinomas (BCC) are relatively common, particularly in older individuals, the development of multiple BCCs at a young age can indicate an associated genetic disorder. Several cases of unilateral or segmental BCCs have been described in the literature. Some cases have demonstrated concomitant syndromic findings while others had unilateral BCCs as the only finding. Herein we present a non-syndromic case of multiple unilateral nodular and pigmented BCCs in a 61-year-old Hispanic man. PMID:26292374

  2. 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

  3. 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…

  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. Modeling to Predict Cases of Hantavirus Pulmonary Syndrome in Chile

    PubMed Central

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

    2014-01-01

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

  7. 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

  8. A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review.

    PubMed

    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

  9. [Acute coronary syndromes with ST elevation and angiographically normal culprit coronary arteries: Case report and update].

    PubMed

    Halna du Fretay, X; Dibon, O; Naël, J

    2015-12-01

    Acute coronary syndrome results in most cases of atherosclerotic plaque rupture. In a few cases, the physiopathological mechanism is different. This does not necessarily change the initial strategy but the subsequent treatments. We report three cases of clinical presentations of acute coronary syndrome whose pathophysiological mechanism is not or not mainly due to atherosclerotic lesions. Based on these cases and a review of the literature, two topics will be tackled: the diagnostic and therapeutic strategy in the management of Tako-tsubo cardiomyopathies and also acute coronary syndromes due to vasospastic angina. PMID:26525680

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

    PubMed Central

    2013-01-01

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

  11. Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report

    PubMed Central

    Momen, Ali Akbar; Momen, Mehdi

    2015-01-01

    Objective Approximately 5–10% of preschool age children are considered developmentally disabled. Brain Magnetic Resonance Imaging (MRI) plays a key role in the diagnostic evaluation in these children. Many congenital or acquired brain anomalies are revealed with MRIs. Although the majority of these abnormalities are sporadic but patients with subcortical band heterotopia or double cortex syndrome have sex-linked inheritance. We are going to present the first case in Iran from Ahvaz city, which was presented with status epilepticus associated with developmental delay and finally diagnosed as double cortex syndrome, because band heterotopia cases especially for continuous or generalized form is rare. A 4.5-year-old developmentally delayed girl was admitted for generalized tonic clonic seizure attack of 1 hr, upward gaze, locked mouth, and urinary incontinence (status epilepticus) in the child neurology ward. She had a history of recurrent seizures that started as febrile seizures since she was 12 months of age and had frequent admissions for having recurrent seizure attacks. She was the only child of consanguineous parents with negative family history of any neurologic problems. She was a product of uneventful term pregnancy, vaginal delivery with a low Apgar score at birth who was admitted for six days in the neonatal ward for hypotonia and cyanosis. At 4.5 years of age, she had HC: 45cm (<3%) Length: 102 cm (25–75%), and BW: 18kg (75%). She was able to sit, walk with support, speak a few words, and communicate with others. A physical exam was unremarkable. Lab data including CBC, blood biochemical, and urinalysis results were all within normal limits, but the electroencephalography (EEG) revealed generalized poly spike-wave discharges. A brain MRI showed corpus callosal dysplasia, generalized band heterotopia, and polymicrogyria. She was discharged home with oral valproate and regular outpatient follow-ups. In the diagnostic evaluation of developmentally delayed and epileptic children, a brain MRI is strongly recommended for accurate diagnosis of anomalies such as neuronal migration disorders (band heterotopia) and others, because appropriate therapeutic management, prognosis, prevention, and genetic counseling for prenatal diagnosis are dependent on definite diagnosis of the proband case. PMID:26221167

  12. Hepatocutaneous syndrome in Shih Tzus: 31 cases (1996-2014).

    PubMed

    Hall-Fonte, Deborah L; Center, Sharon A; McDonough, Sean P; Peters-Kennedy, Jeanine; Trotter, Thomas S; Lucy, John M; Berger, Elyse; Byers, Christopher; Cummings, Clifford G; Burke, Elizabeth; Stegemen, Julie; Pintar, Jason; Kantrowitz, Larry; Sharpe, Kristopher; Weinkle, Tristan

    2016-04-01

    OBJECTIVE To characterize findings in Shih Tzus with progressive superficial necrolytic dermatitis and degenerative vacuolar hepatopathy consistent with hepatocutaneous syndrome. DESIGN Retrospective case series. ANIMALS 31 Shih Tzus. PROCEDURES Medical records were reviewed to obtain information on signalment, history, treatment, outcome, and results of clinicopathologic testing, abdominal ultrasonography, and histologic examination of skin and liver specimens. A pedigree analysis was performed. RESULTS There were 16 males and 15 females. Median age at the time of diagnosis was 8 years (range, 5 to 14 years). Common clinical signs included lethargy, inappetence, weight loss, and lameness. Twenty-five dogs had cutaneous lesions consistent with hepatocutaneous syndrome; the remaining 6 initially only had hepatic abnormalities, but 3 of the 6 subsequently developed cutaneous lesions. Common clinicopathologic abnormalities included microcytosis (15/24 [63%] dogs) and high serum alkaline phosphatase activity (24/24 [100%] dogs). Hepatic ultrasonographic findings included a hyperechoic or heteroechoic appearance to the parenchyma with innumerable hypoechoic nodules. Histologic hepatic lesions consisted of degenerative vacuolar (glycogen and lipid) hepatopathy associated with minimally fibrotic to nonfibrotic, noninflammatory, proliferative nodules. Pedigree analysis confirmed a common ancestry in 12 of 18 dogs. Median survival time was 3 months (range, 1 to 36 months). CONCLUSIONS AND CLINICAL RELEVANCE Results suggested that HCS may have a heritable component in Shih Tzus, although the condition may also be identified in Shih Tzus without affected relatives. Clinical, clinicopathologic, ultrasonographic, and histologic abnormalities in affected Shih Tzus were similar to those previously reported for dogs of other breeds with HCS. (J Am Vet Med Assoc 2016;248:802-813). PMID:27003022

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

    PubMed Central

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

    2013-01-01

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

  14. [Persistent Müllerian ducts syndrome: one case of late hypofertility].

    PubMed

    Viart, L; Peltier, J; Forzini, T; Page, C; Foulon, P; Saint, F; Havet, E

    2015-03-01

    We report the case of a 35-year-old patient with a syndrome of persistent Müllerian ducts (PMDS) of the female type (group A). The diagnosis was made in adulthood during an infertility workup. Clinical examination revealed an empty scrotum, a normal penis and bilateral inguinal cystic masses. The spermogram found azoospermia. Imaging using MRI and tomotensidometry found the presence of an uterus, two fallopian tubes and two inguinal positions of polycystic testes. A surgical management was performed for surgical testicular biopsy. Histological examination then found a cystic formation of multi-celled mesothelial origin, with atrophic testis Sertoli cell involution and without sperm. PMDS is a rare form of pseudo-internal hermaphroditism characterized by the presence in a man of the uterus, fallopian tubes and upper vagina with external male genitalia and virilized characters. About 200 cases are reported in the literature. The diagnosis is often made in children intraoperatively during a cure of testicular ectopia. The karyotype is 46 XY type. The pathogenesis is related to a deficiency of anti-Müllerian hormone (AMH) or tissue resistance to its action by receptor abnormalities. The regression of the Müllerian duct derivatives can give three types of PMDS : masculine type, feminine type and a transverse type. Surgical treatment is difficult but necessary because of the risk of infertility and ectopic testicular degeneration. PMID:25708641

  15. Lance-Adams syndrome: a report of two cases*

    PubMed Central

    Zhang, Yan-xing; Liu, Jian-ren; Jiang, biao; Liu, Hui-qin; Ding, Mei-ping; Song, Shui-jiang; Zhang, Bao-rong; Zhang, Hong; Xu, Bin; Chen, Huai-hong; Wang, Zhong-jin; Huang, Jian-zheng

    2007-01-01

    Chronic post-hypoxic myoclonus, also known as Lance-Adams syndrome (LAS), is a rare complication of successful cardiopulmanry resuscitation often accompanied by action myoclonus and cerebellar ataxia. It is seen in patients who have undergone a cardiorespiratory arrest, regained consciousness afterwards, and then developed myoclonus days or weeks after the event. Worldwide, 122 cases have been reported in the literature so far, including 1 case of Chinese. Here we report 2 Chinese LAS patients with detailed neuroimagings. Cranial single photon emission computed tomography (SPECT) of patient 1, a 52-year-old woman, showed a mild hypoperfusion in her left temporal lobe, whereas patient 2, a 54-year-old woman, manifested a mild bilateral decrease of glucose metabolism in the frontal lobes and a mild to moderate decrease of the N-acetyl aspartate (NAA) peak in the bilateral hippocampi by cranial [18F]-fluorodeoxyglucose positron emission tomographic (PET) scan and cranial magnetic resonance spectroscopy (MRS), respectively. We also review the literature on the neuroimaging, pathogenesis, and treatment of LAS. PMID:17910113

  16. Melaena with Peutz-Jeghers syndrome: a case report

    PubMed Central

    2010-01-01

    Introduction Peutz-Jeghers syndrome (PJS) is a rare familial disorder characterised by mucocutaneous pigmentation, gastrointestinal and extragastrointestinal hamartomatous polyps and an increased risk of malignancy. Peutz-Jeghers polyps in the bowel may result in intussusception. This complication usually manifests with abdominal pain and signs of intestinal obstruction. Case Presentation We report the case of a 24-year-old Caucasian male who presented with melaena. Pigmentation of the buccal mucosa was noted but he was pain-free and examination of the abdomen was unremarkable. Upper gastrointestinal endoscopy revealed multiple polyps. An urgent abdominal computed tomography (CT) scan revealed multiple small bowel intussusceptions. Laparotomy was undertaken on our patient, reducing the intussusceptions and removing the polyps by enterotomies. Bowel resection was not needed. Conclusion Melaena in PJS needs to be urgently investigated through a CT scan even in the absence of abdominal pain and when clinical examination of the abdomen shows normal findings. Although rare, the underlying cause could be intussusception, which if missed could result in grave consequences. PMID:20181116

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

    PubMed Central

    Na, Kwon Joong; Park, Kay-Hyun

    2014-01-01

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

  19. 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. PMID:24739920

  20. 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. PMID:26444481

  1. Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome.

    PubMed

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

    2014-07-01

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

  2. Odontogenic Keratocysts in Gorlin-Goltz Syndrome: A Case Report.

    PubMed

    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

  3. 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

  4. Discovery of a case of Waugh's syndrome during a mission to Haiti

    PubMed Central

    Baltazar, Gerard; Sahyoun, Cyril; Sime, Jacklin; Bitar, Marlon; Bitar, Jerry; Rao, A.C.

    2011-01-01

    Introduction A rarely reported entity, Waugh's syndrome is the association between intestinal malrotation and intussusception. We present a case of Waugh's syndrome encountered during a medical mission to a resource poor country. Presentation of case A 3-month-old female presented with septic shock and acute bowel obstruction secondary to intussusception and malrotation. She required aggressive resuscitation and emergent laparotomy, bowel resection, Ladd procedure and temporary ileostomy. Discussion First described in 1911, Waugh's syndrome has been rarely reported in the literature. We summarize a total of 54 cases of Waugh's syndrome that are reported in the literature to date. The complicated but successful care of this patient reflects the severe outcome of any inadequate treatment of Waugh's syndrome and illustrates the importance of medical volunteers in developing countries. Conclusion As the relationship between malrotation and intussusception may be more frequent than recorded, surgeons must be aware that non-operative management of intussusception may be inadequate therapy. PMID:22288034

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

    PubMed

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

    2015-01-01

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

  6. Catastrophic consequences of assisted reproduction: the case of Turner syndrome.

    PubMed

    Karnis, Megan F

    2012-04-01

    Women with Turner syndrome are generally infertile due to premature ovarian failure. Few may achieve a spontaneous pregnancy, and others may conceive through assisted reproductive technologies including oocyte donation. These pregnancies are high risk due to the medical conditions associated with Turner syndrome. Maternal death from aortic dissection in pregnancies of women with Turner syndrome is estimated at 2%. These pregnancies are also complicated by severe hypertensive disorders and fetal morbidity and mortality. Guidelines for preconception screening and counseling now exist that may mitigate the maternal and fetal risks associated with pregnancy in women with Turner syndrome. PMID:22549711

  7. The Tel Hashomer camptodactyly syndrome: report of a new case and review of the literature.

    PubMed

    Pagnan, N A; Gollop, T R; Lederman, H

    1988-02-01

    We report on a new case of Tel Hashomer camptodactyly syndrome and review the literature. This syndrome is characterized by skeletal dysplasia, muscle hypoplasia, camptodactyly, and abnormal dermatoglyphics. The inheritance is autosomal recessive with probable partial expression in the heterozygote. PMID:3281460

  8. Gamma Knife radiosurgery in steroid-intolerant Tolosa-Hunt syndrome: case report.

    PubMed

    Lee, Jong-Myong; Park, Jung-Soo; Koh, Eun-Jeong

    2016-01-01

    Tolosa-Hunt syndrome is a rare cause of painful ophthalmoplegia due to idiopathic chronic granulomatous inflammation in the cavernous sinus. Usually clinical manifestations are well controlled by corticosteroid therapy, but steroid dependency or resistance is common. We report a case of marked improvement of Tolosa-Hunt syndrome without symptom relapse after Gamma Knife radiosurgery in a patient with steroid intolerance. PMID:26611689

  9. [Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. Case report].

    PubMed

    Fridman, C; Kok, F; Diament, A; Koiffmann, C P

    1997-06-01

    The authors describe the case of a typical Angelman syndrome patient. The proband presents developmental delay, mental retardation, macrostomia, wide-spaced teeth, seizures, absent speech, jerky gait, and paroxysms of laughter. The cytogenetic and molecular studies showed a maternal deletion of 15q11q13. These results are in agreement with the clinical diagnosis of Angelman syndrome. PMID:9629397

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

    PubMed

    ?akar, Olcay; Aren, Gamze; Mumcu, Zeynep; Ünalan, Fatma; Aksakall?, 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

  11. An Extraordinary Case Associated with an Allergic Reaction to Clopidogrel: Coronary Artery Spasm or Kounis Syndrome?

    PubMed

    Liping, Zhang; Bin, Hui; Qiming, Feng

    2015-11-01

    Kounis syndrome is the concurrence of acute coronary syndrome with allergic reactions, such as anaphylaxis or anaphylactoid reactions. Here, we describe a unique case: CASs (coronary artery spasms) with both non-hypersensitivity and hypersensitivity aetiology (associated with clopidogrel hypersensitivity) were observed in a 61 year-old patient. Herein, the mechanism and clinical implications of this association are discussed. PMID:26138623

  12. 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…

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-01-01

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

  15. 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

  16. 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)

  17. A Rare Case of Azathioprine-Induced Sweet's Syndrome in a Patient with Crohn's Disease.

    PubMed

    Ben Salem, Chaker; Salem, Chaker B; Larif, Sofiene; Fathallah, Neila; Slim, Raoudha; Aounallah, Amina; Sakhri, Jaballah; Hmouda, Houssem

    2015-01-01

    Sweet's syndrome has been reported in association with inflammatory diseases such as Crohn's disease. It has also been reported in association with several drugs. Here, we report a rare case of Sweet's syndrome induced by azathioprine in a patient with Crohn's disease. PMID:26219289

  18. Mesenteric vein thrombosis associated with Klinefelters syndrome--a case report.

    PubMed

    Murray, F E

    1988-01-01

    A case of mesenteric vein thrombosis presenting as gastrointestinal hemorrhage in a patient with Klinefelter's syndrome is reported, an association not previously described. The diagnosis was made preoperatively and was confirmed by angiography. The patient underwent a small bowel resection and made an uneventful recovery. A possible association between Klinefelter's syndrome and a hypercoagulable state, previously suggested elsewhere, is emphasized. PMID:3257659

  19. 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.…

  20. Case Studies of Two Down's Syndrome Children Functioning in a Montessori Environment. Research Project.

    ERIC Educational Resources Information Center

    Schramm, Barbara J.

    Presented are case histories of two Down's Syndrome (Mosaic form) 6- and 10-year-old girls who attended regular Montessori classes. General characteristics of Down's Syndrome and other retarded children are reviewed and compared with the two girls' growth and development (according to Piaget's proposed stages). The Montessori emphasis on sensorial…

  1. Metabolic syndrome in rheumatoid arthritis: case control study

    PubMed Central

    2013-01-01

    Background Metabolic syndrome, a cluster of classical cardiovascular risk factors, including hypertension, obesity, glucose intolerance, and dyslipidemia is highly prevalent in patients with rheumatoid arthritis (RA). The aim of the study was to assess the frequency of metabolic syndrome (MS) in RA patients, and to evaluate the relationships between metabolic syndrome and RA. Methods The study was conducted on 120 RA patients according to the 1987 revised American College of Rheumatology classification criteria, and 100 age and sex matched apparently healthy controls. The frequency of metabolic syndrome was assessed using six Metabolic Syndrome definitions (Joint Consensus 2009, National Cholesterol Education Programme 2004 and 2001, International Diabetes Federation, World Health Organisation and European Group for Study of Insulin Resistance). Logistic regression was used to identify independent predictors of metabolic Syndrome. Results The frequency of metabolic syndrome varied from 18 to 48.6% in RA according to the definition used and was significantly higher than controls (for all definitions p<0.05). In multivariate analysis, higher ESR was independently associated with the presence of Met S (OR =1.36; CI: 1.18–2.12; p = 0.03). Glucocorticoid use, but not other disease modifying anti-rheumatic drugs (DMARDs), values remained significant independent predictors of the presence of metabolic syndrome in RA patients (OR = 1.45; CI: 1.12–2.14; p = 0.04). Conclusions In summary, the frequency of metabolic syndrome in RA varies according to the definition used and was significantly higher compared to controls (for all definitions p<0.05). Higher systemic inflammatory marker, and glucocorticoids use were independent predictors associated with the presence of metabolic syndrome in patients with RA. These findings suggest that physicians should screen for metabolic syndrome in patients with RA to control its components and therefore reduce the risk of cardiovascular disease in these patients. PMID:23621997

  2. Fuchs' syndrome (Stevens-Johnson syndrome without skin involvement) in an adult male--a case report and general characteristics of the sporadically diagnosed disease.

    PubMed

    Šternberský, Jan; Tichý, Martin

    2014-01-01

    Fuchs' syndrome (Stevens-Johnson syndrome without skin involvement) is a sporadically diagnosed disease. Most authors consider it to be a pure mucosal variant of Stevens-Johnson syndrome; however, some consider the syndrome a separate entity. The complete absence of cutaneous symptoms may be the reason that not all cases of Fuchs' syndrome are diagnosed and properly classified. The authors describe a case of a 22-year-old patient suffering only from mucosal symptoms, diagnosed as Fuchs' syndrome from the context of the tests performed. A Mycoplasma pneumoniae infection triggered the disease onset. Mycoplasma infection, as a trigger factor of Fuchs' syndrome in adults, has so far been described in only a few isolated cases worldwide. PMID:25580788

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

    PubMed Central

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

    2014-01-01

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

  4. Tracheal stenosis in hyper immunoglobulin E syndrome: a novel case report.

    PubMed

    Kurien, G; Uwiera, T C

    2011-06-01

    Hyper Immunoglobulin E Syndrome, or Job's Syndrome, is a rare multisystem disorder that classically presents in early childhood with a triad of clinical manifestations that include severe eczematous dermatitis, recurrent infections (skin and lung), and elevated serum immunoglobulin E. Hyper Immunoglobulin E Syndrome is a relatively uncommon condition and as such requires careful consideration of a constellation of patient symptoms to correctly diagnose the underlying disease. In this report we present a unique case of a child with previously undiagnosed Hyper Immunoglobulin E Syndrome presenting with biphasic stridor associated with multiple areas of tracheal stenosis. PMID:21459460

  5. A case of type I variant Kounis syndrome with Samter-Beer triad

    PubMed Central

    Prajapati, Jayesh S; Virpariya, Kapil M; Thakkar, Ashok S; Abhyankar, Atul D

    2013-01-01

    Kounis syndrome is defined as the coexistence of acute coronary syndromes with situations associated with allergy or hypersensitivity, as well as anaphylactic or anaphylactoid reactions, to a variety of medical conditions, environmental and medication exposures. We report a case of Kounis-Zavras syndrome type I variant in the setting of aspirin-induced asthma, or the Samter-Beer triad of asthma, nasal polyps and aspirin allergy. When there is a young individual with no predisposing factors of atherosclerosis and apparent coronary lesion, with or without electrocardiography and biochemical markers of infarction, the possibility of Kounis syndrome should be kept in mind. PMID:23675559

  6. Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases

    PubMed Central

    Langer, Seppo W.; Ringholm, Lene; Dali, Christine I.; Petersen, Rene Horsleben; Rasmussen, Åse Krogh; Gerdes, Anne-Marie; Federspiel, Birgitte; Knigge, Ulrich Peter

    2015-01-01

    Cowden Syndrome is a rare autosomal dominantly inherited disorder. Patients with Cowden Syndrome are at increased risk of various benign and malignant neoplasms in breast, endometrium, thyroid, gastrointestinal tract, and genitourinary system. Neuroendocrine tumors are ubiquitous neoplasms that may occur anywhere in the human body. Bronchopulmonary neuroendocrine tumors include four different histological subtypes, among these, typical and atypical pulmonary carcinoids. No association between Cowden Syndrome and neuroendocrine tumors has previously been described. We present two cases of Cowden Syndrome that were diagnosed with pulmonary carcinoids. PMID:26798346

  7. Severe constipation in a patient with Myhre syndrome: a case report.

    PubMed

    Bassett, John K; Douzgou, Sofia; Kerr, Bronwyn

    2016-04-01

    Myhre syndrome is a rare autosomal dominant genetic condition characterized by short stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal abnormalities, decreased joint motility, developmental delay, deafness and cardiac defects. Myhre syndrome and the allelic laryngeal stenosis, arthropathy, prognathism and short stature syndrome are caused by a missense mutation of SMAD4, resulting in altered expression of transforming growth factor β and bone morphogenic protein, affecting cell growth and differentiation. Here, we report on the case of a 7-year-old girl showing symptoms of Myhre syndrome and with a known SMAD4 mutation presenting with the novel symptom of severe constipation. PMID:26636501

  8. Wernicke-Korsakoff Syndrome as a Consequence of Delusional Food Refusal: A Case Study.

    PubMed

    Hargrave, David D; Schroeder, Ryan W; Heinrichs, Robin J; Baade, Lyle E

    2015-12-01

    Wernicke-Korsakoff syndrome is caused by thiamine (vitamin B1) deficiency, typically resulting from malnutrition secondary to chronic alcohol abuse. Less often, other conditions can lead to malnutrition and Wernicke-Korsakoff syndrome. We describe a 35-year-old man who developed Wernicke-Korsakoff syndrome with a typical neurologic and neuropsychological presentation after somatic delusions led him to refuse to eat. Cases like his serve to heighten awareness of the interplay between psychiatric and neurologic conditions, their sometimes atypical pathogenesis, and the value to primary care providers of consulting with psychiatrists, neurologists, and neuropsychologists when managing patients with possible Wernicke-Korsakoff syndrome. PMID:26705268

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

    PubMed Central

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

    1990-01-01

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

  10. A case of pituitary adrenocorticotropin-dependent Cushing's syndrome in the horse.

    PubMed

    Moore, J N; Steiss, J; Nicholson, W E; Orth, D N

    1979-03-01

    In the horse, a syndrome of hirsutism, hyperglycemia, glucosuria, polydipsia, polyuria, polyphagia, and progressive debilitation has been recognized. Most often the syndrome has been associated with adenomas of the pars intermedia of the pituitary and bilateral adrenal hyperplasia or nodular hyperplasia involving primarily the zona fasciculata. Previously, the syndrome has been ascribed to compression of the hypothalamus by an expanding but functionally inactive pituitary neoplasm. In the present case, with RIA determination of plasma ACTH concentrations, the syndrome was ascribed to pituitary ACTH-dependent hyperadrenocorticism and likened to human Cushing's disease. PMID:220013

  11. Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases.

    PubMed

    Langer, Seppo W; Ringholm, Lene; Dali, Christine I; Petersen, Rene Horsleben; Rasmussen, Åse Krogh; Gerdes, Anne-Marie; Federspiel, Birgitte; Knigge, Ulrich Peter

    2015-01-01

    Cowden Syndrome is a rare autosomal dominantly inherited disorder. Patients with Cowden Syndrome are at increased risk of various benign and malignant neoplasms in breast, endometrium, thyroid, gastrointestinal tract, and genitourinary system. Neuroendocrine tumors are ubiquitous neoplasms that may occur anywhere in the human body. Bronchopulmonary neuroendocrine tumors include four different histological subtypes, among these, typical and atypical pulmonary carcinoids. No association between Cowden Syndrome and neuroendocrine tumors has previously been described. We present two cases of Cowden Syndrome that were diagnosed with pulmonary carcinoids. PMID:26798346

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

    PubMed

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

    2014-11-01

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

  13. Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?

    PubMed Central

    Laccetta, Gianluigi; Toschi, Benedetta; Fogli, Antonella; Bertini, Veronica; Valetto, Angelo; Consolini, Rita

    2015-01-01

    We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in emergence of language and in motor milestones, feeding and growing problems, enamel hypoplasia, mild skeletal anomalies, and facial dysmorphisms are associated with no abnormalities found on genetic tests. PMID:26793401

  14. A Rare Case of Myelodysplastic Syndrome with Refractory Thrombocytopenia

    PubMed Central

    Jehangir, Waqas; Webb, John; Singh, Shilpi; Arshed, Sabrina; Sen, Shuvendu; Yousif, Abdalla

    2015-01-01

    Myelodysplastic syndromes (MDS) represent a variety of clonal abnormalities, possibly preleukemic and display numerous phenotypic manifestations. Specific mutations carry high morbidity and mortality rates due to cell line dysplasia. MDS commonly presents with symptoms related to anemia, and approximately two-thirds will develop thrombocytopenia, a rare, but potentially lethal complication that increases complexity in treatment and morbidity, and may be due to unique genetic mutations leading to refractory thrombocytopenia, ultimately leading to an overall reduction in survival. Careful identification and monitoring of this patient subdivision can significantly reduce morbidity and mortality, and potential identification of specific gene mutations and advances in treatment options will hopefully provide guidance on detecting at-risk patients in the future. We present a case of a man with MDS-U (karyotype 46, XY, del (20) (q11.2q13.3) (20) with no detected JAK2 V617F mutation), who in despite of appropriate evidenced based treatment, continued to exhibit refractory thrombocytopenia. PMID:26487931

  15. Neuropathology of a fatal case of posterior reversible encephalopathy syndrome.

    PubMed

    Kheir, John N; Lawlor, Michael W; Ahn, Edward S; Lehmann, Leslie; Riviello, James J; Silvera, V Michelle; McManus, Michael; Folkerth, Rebecca D

    2010-01-01

    The pathology of posterior reversible encephalopathy syndrome (PRES) is undefined, since it is rarely fatal and is biopsied in only exceptional circumstances. We describe rapidly progressive PRES following stem cell transplant for acute lymphoblastic leukemia. After development of altered mental status, this 8-year-old girl had T2 prolongation of the white matter in a posterior-dominant distribution, eventually developing cerebellar edema, hemorrhage, hydrocephalus, and herniation. Despite surgical and medical management, she died 36 hours later. At autopsy, the occipital and cerebellar white matter and focal occipital cortical gray matter showed a spectrum of microvascular changes, including dilated perivascular spaces containing proteinaceous exudates and macrophages, as well as fibrinoid necrosis and acute hemorrhage, in a distribution corresponding to the neuroimaging abnormalities and reminiscent of those seen in patients with acute hypertensive encephalopathy. Of note, similar microvascular changes were not seen in the kidney or other systemic sites. Thus, the findings indicate a brain-specific microvascular compromise as the substrate of PRES, at least in the rare instance of cases progressing to fatal outcome. PMID:20158377

  16. Asperger's disorder and Williams syndrome: a case report.

    PubMed

    Kilinçaslan, Ayse; Tanidir, Canan; Tutkunkardaş, Mustafa Deniz; Mukaddes, Nahit Motavalli

    2011-01-01

    Williams syndrome (WS) is a genetic disorder caused by the hemizygous microdeletion in chromosome 7q11.23. It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits. The presence of autistic features in individuals with WS is a controversial issue. While there are reports that describe them as overly friendly with excessive sociability and good empathic skills, some recent studies focus more on the qualitative impairment of their social abilities. Here, we report the clinical presentation and follow-up of an eight-year-old boy with WS and clear problems in his social interaction, non-verbal communication and circumscribed interests. To our knowledge, this is the first case report on the coexistence of WS and Asperger's disorder. It also differs from previous papers on the comorbidity of WS and autism spectrum disorders, by depicting a highly verbal, nonretarded child followed for seven years through adolescence. PMID:21980823

  17. Gamma-hydroxybutyrate withdrawal syndrome: a case report

    PubMed Central

    2009-01-01

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

  18. Systemic capillary leak syndrome associated with a rare abdominal and four-limb compartment syndrome: a case report

    PubMed Central

    2014-01-01

    Introduction Systemic capillary leak syndrome is a rare and life threatening disease characterized by periodic episodes of hypovolemic shock due to leakage of plasma from the intravascular to the extravascular space. It is associated with hemoconcentration, hypoalbuminemia, and generalized edema. We report the case of a patient with idiopathic systemic capillary leak syndrome who developed an unexpected and potentially fatal abdominal and four-limb compartment syndrome. This was successfully treated with fasciotomies and medical treatment including terbutaline, theophylline, and corticosteroids. To the best of our knowledge this is the first report of this kind in the literature. Case presentation A previously healthy 54-year-old Caucasian man presented to the emergency department of our internal medicine ward with a medical history of aggravation of general health related to dizziness, weight gain, and two syncopal attacks. Due to a massive emission of fluids and proteins from the intravascular to the extracellular compartments, he developed compartment syndromes in his upper and lower limbs and the abdominal compartment. The abdomen and all four limbs required decompression by a fasciotomy of both forearms, both thighs, both lower legs, and the abdomen within 24 hours after admission. After 60 days of treatment he was dismissed from the clinic. He was able to return to his previous occupation and reached the same level of athletic activity as before the illness. Conclusions Systemic capillary leak syndrome is a very rare disease that can lead to a fatal clinical outcome. It is important to be aware of the fatal complications that can be caused by this disease. Despite the fact that systemic capillary leak syndrome represents a very rare disease it is still important to be aware of life threatening complications, like compartment syndromes, which need surgical intervention. However, early diagnosis and interdisciplinary treatment can lead to a good clinical outcome. PMID:24934689

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

    PubMed

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

    2014-05-01

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

  20. Bobble head doll syndrome: A rare case report

    PubMed Central

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

    2014-01-01

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

  1. 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

  2. [Autoimmune lymphoproliferative syndrome: a case report and literature review].

    PubMed

    Sun, Jia-peng; Lu, Xin-tian; Zhao, Wei-hong; Hua, Ying

    2015-12-18

    We described 1 case of autoimmune lymphoproliferative syndrome (ALPS), first diagnosed in our hospital, and reviewed the recent literature. The 11-month old male patient presented with a history of splenomegaly and hepatomegaly since 1 month after birth. He suffered recurrent infectious diseases including cytomegalovirus infection, parvovirus B19 infection and chronic diarrhea disease. Besides, his symptoms included hemolytic anemia and thrombocytopenia. The laboratory abnormality indicated an expanded population of alpha/beta double-negative T cells (DNTs) (27.18% of lymphocytes, 35.16% of CD3+ T lymphocytes) in peripheral blood, and autoantibodies including antinuclear antibody, double-stranded DNA and rheumatic factor were positive. Hyper gamma globulinemia and positive direct Coombs tests were seen in the patient. His parents were both healthy and denied autoimmune diseases. We identified a heterozygous point mutation in exon 3 of the FAS gene carrying c.309 A>C, resulting in a single base pair substitution in exon 3 of FAS gene which changed the codon of Arg103 to Ser103. Unfortunately, we were unable to obtain the gene results of the child's parents. The patient was treated with glucocorticoids in our hospital and with mycophenolatemofetil in other hospital. And we were informed that his anemia condition relieved through the telephone follow-up, but he still suffered recurrent infections, hepatomegaly and splenomegaly still existed. As we all know ALPS is characterized by defective lymphocyte apoptosis, and thus cause lymphoproliferative disease and autoimmune disease, and increase the risk of lymphoma. It is more likely to be misdiagnosed as other diseases. ALPS should be suspected in the case of chronic lymphadenopathy, splenomegaly and autoimmune features. Flow cytometry approach is helpful for the diagnosis. Immunosuppressive drugs are the necessary treatment. PMID:26679669

  3. 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

  4. Lemierre syndrome with thrombosis of sigmoid sinus following dental extraction: a case report

    PubMed Central

    Kim, Taeyun

    2013-01-01

    Lemierre syndrome is caused by an infection in the oropharyngeal region with subsequent thrombophlebitis in the internal jugular vein. The thrombus from the thrombophlebitis can invade other vital organs, such as liver, lungs, or joints, resulting in secondary infection, which further exacerbates the fatal prognosis of this syndrome. Lemierre syndrome, also called postanginal sepsis or necrobacillosis, was first reported by Dr. Lemierre in 1936. In his report, Lemierre mentioned that out of 20 patients who suffered from this syndrome, only two survived. He also stated that all of the 20 patients complained of infections in the palatine tonsils and developed sepsis and thrombophlebitis in the internal jugular vein. Once called a "forgotten disease," this syndrome showed a very high mortality rate until usage of antibiotics became prevalent. In this case report, the authors present a 71-year-old female patient who suffered from Lemierre syndrome with thrombosis extended to the right sigmoid sinus. PMID:24471023

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

    PubMed Central

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

    2014-01-01

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

  6. Rituximab for refractory subcutaneous Sweet's syndrome in chronic lymphocytic leukemia: A case report

    PubMed Central

    HASHEMI, SEYED MEHDI; FAZELI, SEYED AMIRHOSSEIN; VAHEDI, ABDOLBASET; GOLABCHIFARD, REZA

    2016-01-01

    Sweet's syndrome is a neutrophilic dermatosis characterised by sudden onset of fever, neutrophilia, erythematous skin rashes and neutrophilic infiltration of the dermis. Subcutaneous Sweet's syndrome, or Sweet's panniculitis, is an uncommon variant of the classic syndrome, with hypodermal neutrophilic infiltration. The association of Sweet's syndrome with various malignancies has been reported. The most common underlying hematological malignancies are of myeloid origin; however, there have been several reports of the classic Sweet's syndrome in patients with a lymphoproliferative disorder, although the association of subcutaneous Sweet's syndrome with lymphoproliferative disorders has not been well-documented thus far. Herein, we present the case of a 48-year-old man with a 2-year history of chronic lymphocytic leukemia who developed fever and skin rashes, without any evidence of a relapse. The clinical and pathological investigation resulted in the diagnosis of subcutaneous Sweet's syndrome. The patient exhibited no significant response to conventional therapeutic measures; however, following two subsequent doses of rituximab, his general condition and skin rash improved. The follow-up skin biopsy demonstrated dermal neutrophilic infiltrations in conjunction with prior mixed lobular and septal panniculitis, suggesting evolution of subcutaneous Sweet's syndrome to its classic form. To the best of our knowledge, this is one of the first reports of rituximab as a novel biological treatment for Sweet's syndrome. However, further randomized trials are required to evaluate the efficacy and safety of such biological therapies for Sweet's syndrome.

  7. 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

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

    ERIC Educational Resources Information Center

    Kumar, Y. Vikram; And Others

    1979-01-01

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

  9. 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)

  10. 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.

  11. Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study

    PubMed Central

    Pokale, Yamini S.; Jadhav, Ajinkya M.; Kate, Ushang

    2012-01-01

    We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic signs described in the classical Wolf–Hirschhorn syndrome were found on clinical examination of our patient. PMID:22754235

  12. 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. PMID:26389061

  13. 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 ?-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

  14. 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

  15. 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

  16. Ellis-van Creveld syndrome in an Indian child: a case report

    PubMed Central

    Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth

    2011-01-01

    Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case. PMID:22232726

  17. Rett syndrome with colon cancer presented with sigmoid volvulus: Report of a case

    PubMed Central

    Yilmaz, Tonguç Utku; Güne?, Abdullah; Pösteki, Gökhan; Okay, Erdem

    2014-01-01

    INTRODUCTION Rett syndrome is a progressive neurodevelopment disorder in which MECP gene mutations are responsible and might be related to cancer. PRESENTATION OF CASE A 22 year-old girl with Rett syndrome was hospitalized for abdominal distention and shock. Abdominal tenderness and distention were revealed in physical examination. Radiological investigations revealed sigmoid volvulus and colonic obstruction. Sigmoid volvulus, sigmoid colon perforation due to sigmoid cancer with liver metastasis were observed at laparotomy. Hartman procedure performed. The patient died on the second postoperative day. DISCUSSION Rett syndrome has several gastrointestinal pathologies related with inadequate parasympathetic control. Genetic mutations in methyl-CpG-binding protein 2 (MECP2) which has role in several cancer mechanisms is the reason of Rett syndrome. Colon cancer with the underlying gastrointestinal pathologies complicated our case. CONCLUSION Rett syndrome patients need a high level of concern for gastrointestinal emergencies with cancer risk. PMID:25108072

  18. 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. PMID:6984700

  19. Neuroleptic malignant syndrome: a case report with post-mortem brain and muscle pathology.

    PubMed Central

    Jones, E M; Dawson, A

    1989-01-01

    The neuroleptic malignant syndrome is a rare but dangerous complication of treatment with neuroleptics. The aetiology and pathophysiology of the syndrome are reviewed, and a fatal case is presented where both brain and muscle pathology are described. Striking myopathic changes in this case, accompanied by only minimal and non-specific brain abnormalities, support a peripheral rather than central mechanism for the hyperthermia. Images PMID:2795057

  20. Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome

    PubMed Central

    Hu, Zishuo Ian; Bangiyev, Lev; Seidman, Roberta J.; Cohen, Jules A.

    2015-01-01

    We report a case of a 37-year-old woman presenting with dysphagia and thyroid masses who was subsequently diagnosed with Lhermitte-Duclos disease (LDD) based on MRI scan and histopathology. Additional imaging subsequently revealed the presence of thyroid nodules and bilateral breast cancers. Genetic testing later confirmed the diagnosis of Cowden syndrome. This case illustrates the importance of the overlap between LDD, Cowden syndrome, thyroid disease, and breast cancer. PMID:26448889