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Sample records for bardet-biedl syndrome case

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

    PubMed

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

    2003-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  3. 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

  4. Bardet-Biedl syndrome: multiple fingers with multiple defects!

    PubMed

    Madireddi, Jagadesh; Acharya, Vasuveda; Suryanarayana, Jandhyala; Hande, Handattu Manjunath; Shetty, Ranjan

    2015-01-01

    Bardet-Biedl syndrome (BBS) is a rare congenital ciliopathy characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism and renal dysfunction. A 45-year-old Indian man presented with New York Heart Association class 2 dyspnoea of 3?months duration. He was blind since childhood. He was obese, cyanosed, and had clubbing and polydactyly. Systemic examination revealed presence of wide and fixed split second heart sound with systolic murmur in the left parasternal area. Work up unmasked the presence of secondary polycythaemia, atypical retinitis pigmentosa and partial atrioventricular defect. He was diagnosed to have BBS based on clinical and radiological features. This case is interesting for its rarity and also for the peculiarity of its cardiovascular association. Polydactyly with a suspicious clinical background is the clue and by itself warrants the clinician to search for occult anomalies. Clinicians must be aware of this syndrome, for which an early diagnosis and a multidisciplinary approach will significantly improve mortality and morbidity in patients. PMID:26611481

  5. 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

  6. 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

  7. 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

  8. Genetics Home Reference: Bardet-Biedl syndrome

    MedlinePLUS

    ... gene ; genitalia ; hypertension ; hypogonadism ; infertile ; inherited ; kidney ; motor ; perception ; peripheral ; polydactyly ; population ; prevalence ; recessive ; renal ; renal disease ; retina ; stage ; syndactyly ; syndrome ; tissue ; visual acuity You may find definitions for these and ...

  9. 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

  10. 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

  11. 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).

  12. 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

  13. 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

  14. 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

  15. 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.

  16. 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

  17. 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

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

    PubMed

    Hirano, Makito; Satake, Wataru; 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

  19. 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

  20. 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

  1. 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

  2. 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

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

    PubMed Central

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

    2011-01-01

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

  4. Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

    PubMed Central

    Lindstrand, Anna; Davis, Erica E.; Carvalho, Claudia M.B.; Pehlivan, Davut; Willer, Jason R.; Tsai, I-Chun; Ramanathan, Subhadra; Zuppan, Craig; Sabo, Aniko; Muzny, Donna; Gibbs, Richard; Liu, Pengfei; Lewis, Richard A.; Banin, Eyal; Lupski, James R.; Clark, Robin; Katsanis, Nicholas

    2014-01-01

    Homozygosity for a recurrent 290 kb deletion of NPHP1 is the most frequent cause of isolated nephronophthisis (NPHP) in humans. A deletion of the same genomic interval has also been detected in individuals with Joubert syndrome (JBTS), and in the mouse, Nphp1 interacts genetically with Ahi1, a known JBTS locus. Given these observations, we investigated the contribution of NPHP1 in Bardet-Biedl syndrome (BBS), a ciliopathy of intermediate severity. By using a combination of array-comparative genomic hybridization, TaqMan copy number assays, and sequencing, we studied 200 families affected by BBS. We report a homozygous NPHP1 deletion CNV in a family with classical BBS that is transmitted with autosomal-recessive inheritance. Further, we identified heterozygous NPHP1 deletions in two more unrelated persons with BBS who bear primary mutations at another BBS locus. In parallel, we identified five families harboring an SNV in NPHP1 resulting in a conserved missense change, c.14G>T (p.Arg5Leu), that is enriched in our Hispanic pedigrees; in each case, affected individuals carried additional bona fide pathogenic alleles in another BBS gene. In vivo functional modeling in zebrafish embryos demonstrated that c.14G>T is a loss-of-function variant, and suppression of nphp1 in concert with each of the primary BBS loci found in our NPHP1-positive pedigrees exacerbated the severity of the phenotype. These results suggest that NPHP1 mutations are probably rare primary causes of BBS that contribute to the mutational burden of the disorder. PMID:24746959

  5. Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability.

    PubMed

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

    2012-10-26

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

  6. 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

  7. 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

  8. 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

  9. Bardet-Biedl Syndrome

    MedlinePLUS

    ... Campaign to End Blindness Other Ways to Fight Blindness Corporate Support Volunteer Take Action Honor a Loved ... taking place nationwide. Join Us We Are Ending Blindness The urgent mission of the Foundation Fighting Blindness ...

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

    PubMed Central

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

    2013-01-01

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

  11. 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.

  12. 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

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

    PubMed

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

    2015-12-01

    Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities, genital abnormalities and learning difficulties. To date, mutations in 21 different genes have been described as being responsible for BBS. Recently sequential gene sequencing has been replaced by next generation sequencing (NGS) applications. In this study, 15 patients with clinically diagnosed BBS were investigated using a next generation sequencing panel which included 17 known BBS causing genes (BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, NPHP6, WDPCP, SDCCAG8, NPHP1). A genetic diagnosis was achieved in 13 patients (86.6%) and involved 9 novel and 3 previously described pathogenic variants in 6 of 17 BBS causing genes. BBS10 and BBS1 were the most commonly involved genes with frequencies of 31% and 23% respectively. Three of the 13 patients had an affected sibling. All affected siblings were found to be homozygous for the mutation detected in the proband. No evidence of triallelic inheritance was detected. Although limited association between certain genes and phenotypic features has been observed in this study, it is considered that additional studies are needed to better characterize the genotype-phenotype correlation of BBS. Our results demonstrate that NGS panels are feasible and effective method for providing high diagnostic yields in the diseases caused by multiple genes such as BBS. PMID:26518167

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

    PubMed Central

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

    2013-01-01

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

  15. Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing

    PubMed Central

    Kim, Min Kyeong; Kwak, Soo Heon; Kang, Shinae; Jung, Hye Seung; Cho, Young Min; Kim, Seong Yeon

    2015-01-01

    Background Alström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alström syndrome is caused by a mutation in the ALMS1 gene, and Bardet-Biedl syndrome is caused by mutations in BBS1-16 genes. Herein we report genetically confirmed cases of Alström syndrome and Bardet-Biedl syndrome in Korea using whole exome sequencing. Methods Exome capture was done using SureSelect Human All Exon Kit V4+UTRs (Agilent Technologies). HiSeq2000 system (Illumina) was used for massive parallel sequencing. Sanger sequencing was used for genotype confirmation and familial cosegregation analysis. Results A 21-year old Korean woman was clinically diagnosed with Alström syndrome. She had diabetes, blindness, obesity, severe insulin resistance, and hearing loss. Whole exome sequencing revealed a nonsense mutation in exon 10 of ALMS1 (c.8776C>T, p.R2926X) and a seven base-pair deletion resulting in frameshift mutation in exon 8 (c.6410_6416del, p.2137_2139del). A 24-year-old Korean man had Bardet-Biedl syndrome with diabetes, blindness, obesity, and a history of polydactyly. Whole exome sequencing revealed a nonsynonymous mutation in exon 11 of the BBS1 gene (c.1061A>G, p.E354G) and mutation at the normal splicing recognition site of exon 7 of the BBS1 gene (c.519-1G>T). Conclusion We found novel compound heterozygous mutations of Alström syndrome and Bardet-Biedl syndrome using whole exome sequencing. The whole exome sequencing successfully identified novel genetic variants of ciliopathy-associated diabetes. PMID:26566502

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

    E-print Network

    as of January 3, 2012) 2011 "A dense SNP-based linkage map for Atlantic salmon (Salmo salar) reveals extended Atlantic salmon (Salmo salar)." Johnstone, K.A., Lubieniecki, K.P., Koop, B.F. and Davidson, W.S. (2011 in Atlantic salmon (Salmo salar) and rainbow trout (Oncorhynchus mykiss)." Li, J., Phillips, R.B., Harwood, A

  18. Novel variant syndrome associated with congenital hepatic fibrosis.

    PubMed

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

    2015-10-16

    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

  19. Novel variant syndrome associated with congenital hepatic fibrosis

    PubMed Central

    Bayraktar, Yusuf; Yonem, Ozlem; Varl?, 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. 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

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

    ClinicalTrials.gov

    2015-07-21

    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

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

    PubMed

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

    2014-01-01

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

  3. 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

  4. Lees' syndrome: a case series.

    PubMed

    Becker, Nilson; Munhoz, Renato P; Teive, Hélio A G

    2011-10-01

    We report a case series of dopamine dysregulation syndrome, previously known as hedonistic homeostatic dysregulation in patients with Parkinson's disease on dopamine replacement therapies, now designated as Lees' syndrome. PMID:22042176

  5. 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

  6. 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

  7. Boerhaave syndrome: a case report.

    PubMed

    Marshall, William B

    2002-08-01

    Spontaneous rupture of the esophagus (Boerhaave syndrome) is a rare condition that has many possible causes, among them violent retching. The definitive treatment for the ruptured esophagus is surgical repair. Potential complications include infection in many forms, pleural effusion, and pneumothorax. This case study presents an overview of the syndrome, including morbidity, mortality, and treatment. The patient in this case is a 61-year-old man who had 1 episode of violent vomiting resulting in a perforation of the esophagus with communication into the right chest cavity. The patient underwent surgical repair of the rupture with placement of a feeding tube and creation of an esophageal diversion to promote healing of the surgical site. PMID:12242927

  8. 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

  9. Inherited Retinal Degenerative Disease Registry

    ClinicalTrials.gov

    2015-05-01

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

  10. Apert syndrome with omphalocele: a case report.

    PubMed

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

    2014-09-01

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

  11. Two interesting cases of EEC syndrome

    PubMed Central

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

    2013-01-01

    Aim To report two cases of EEC syndrome with oral involvement to highlight the fact that the dental surgeon may be among the first to recognise the condition. Introduction The EEC syndrome, a rare congenital syndrome is characterised by ectodermal dysplasia, distal limb anomaly, cleft lip and palate and lachrymal duct anomalies although the term oligosymptomatic EEC syndrome has been suggested for cases in which ectrodactyly may be absent and that such cases should not be deprived of the EEC syndrome diagnosis. It is usually inherited as an autosomal dominant trait with variable expressivity and penetrance and all these features rarely coexist in a single individual. Conclusion Both our cases had all three characteristic features of the EEC syndrome. Other syndromes with overlapping features such as the Rapp–Hodgkin syndrome and the AEC syndrome should be considered in the differential diagnosis of incomplete forms of EEC syndrome. Clinical significance It is important to follow an interdisciplinary approach to attain the greatest degree of success possible in the treatment of such cases. PMID:25737881

  12. 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

  13. 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

  14. 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

  15. 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

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

    PubMed Central

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

    2013-01-01

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

  17. Vanishing Testis Syndrome: Report of Two Cases

    PubMed Central

    Dhandore, Priya; Hombalkar, Narendra Narayan; Gurav, Prakash Dattatray

    2014-01-01

    Vanishing testis syndrome or Testicular regression syndrome (TRS) is defined as the absence or an incomplete development of the testis of varying degrees in 46XY patients with normal external genitalia.TRS or vanishing testis syndrome may be seen in less than 5% of all patients of cryptorchidism. We report two cases of TRS who underwent surgical exploration with an initial diagnosis of cryptorchidism with impalpable testis. Grossly testicular tissue was not identified and the vas deferens was ending into a nubbin in both the cases. The presumed testicular remnants were sent for histological examination. The histological sections in both the cases showed vascularised fibrous nodule, structure of the spermatic cord and calcification, supporting the diagnosis of TRS. PMID:25302234

  18. [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

  19. 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

  20. A Case of Male Goltz Syndrome

    PubMed Central

    Ghoshal, Bhaswati; Lahiri, Subhrajit; Nandi, Debabrata

    2012-01-01

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

  1. Pinguecula and Sjögren's syndrome: two cases.

    PubMed

    de Roux-Serratrice, C; Conrath, J; Serratrice, J; Granel, B; Disdier, P; Weiller, P J

    2001-01-01

    A pinguecula is a small, raised conjunctival nodule at the temporal or nasal limbus classically associated with conjunctival microtrauma from exposure to sunlight and/or to dust. We report two cases occurring during the course of Sjögren's syndrome. To our knowledge this association has never been described. PMID:11403269

  2. 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

  3. Ascher's syndrome: A rare case report

    PubMed Central

    Chandravanshi, Shivcharan Lal; Mishra, Vinay

    2015-01-01

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

  4. Nicolau syndrome after intramuscular injection: 3 cases.

    PubMed

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

    2012-05-01

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

  5. 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

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

    E-print Network

    Stromswold, Karin

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

  7. [Acute extrapyramidal syndrome and neuroleptical malignant syndrome. A case report].

    PubMed

    Cesario, Vincenzo

    2008-03-01

    A case of serious undesirable, effect arisen in a 24-year old male treated with intravenous injection of haloperidol, is presented. The patient has been affected by acute psychosis and was treated with intravenous injection of haloperidol, successively a serious uneasiness with muscular rigor, perspiration, high blood-pressure, serious shortness of breath with cyanosis appeared. This case arouses interest for an unusual symptomatology and for a difficult diagnostical framing too, because was too much serious to consider it a simple acute extrapiramidal crisis, however without all characteristics to consider it a neuroleptic malignant syndrome. With this experience is possible to suppose a continuity between these two syndromes that several authors consider expression of different aetiological processes. Final aim of this report is to put in evidence the serious undesirable effects risk with using of a parenteral giving of traditional neuroleptic medications, without consider the alternative opportunity to using other new antipsycotic medications available nowadays, perhaps not quick enough than a traditional neuroleptic for effectiveness, but more sure about the tolerability. PMID:18488526

  8. 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

  9. Rare case of orofaciodigital syndrome type I

    PubMed Central

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

    2013-01-01

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

  10. 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

  11. [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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. [Fernand Widal syndrome: apropos of 2 cases].

    PubMed

    Ndiaye, M; Hane, A A; Ndir, M; Ba, O; Cissokho, S; Kandji, M; Ndiaye, S; Diatta, A; Niang, A; Dia, Y; Diouf, R

    1999-01-01

    The Fernand Widal syndrome combines a nasal polyposis, an asthma and aspirin sensitivity. It remains a nosological entity often unrecognized because of the trivialization of aspirin in-take on the one hand the other its etiopathogenesis which has not yet been clarified because of the inhibition of the cyclo-oxygenase. In actual fact the aspirin molecule has yet to reveal all its secrets (advantages and disadvantages). We report 2 cases of Fernand Widal syndrome observed in 2 women in their thirties with a notion of atopy in one at the Pneumophtisiology clinic at the Fann University Hospital in Dakar. The confirmed diagnosis was based on oral provocative test in addition to suggestive clinical signs which emphasize the classical triad with a chronological appearance more or less typical. The best treatment could combine inhaled corticotherapy, nasalization of sinus cavities, antihistaminics, no aspirin in take and educating the patient. PMID:11957292

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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

  3. [Stevens-Johnson syndrome - a case report].

    PubMed

    ?ábalová, L; Zeleník, K; Komínek, P

    2013-12-01

    Stevens-Johnson syndrome (SJS) is a severe skin and mucosal condition, with eruption of hemorrhagic vesiculous to bullous lesions, caused by hypersensitive reaction to certain drugs; rarely, it can be parainfectious. SJS is a minor form of toxic epidermal necrolysis, with involvement of less than 10 % of the skin surface. Cutaneous and mucosal lesions are caused by necrosis of epithelial cells induced by T lymphocytes. The diagnosis is based on clinical features but it has to be confirmed by histologic and immunohistologic examination of the lesions. The treatment consists of high doses of systemic corticosteroids and particularly thorough local, supportive and symptomatic therapy. The authors present a case of parainfectious SJS and discuss the latest knowledge about SJS as well as therapeutic options. PMID:24623051

  4. Carotid stump syndrome: A case report

    PubMed Central

    ZHANG, XU; SHAO, SHIXIU; ZHENG, XUEPING; GAO, XIANG; ZHANG, YONG

    2015-01-01

    Carotid stump syndrome (CSS) is known to be one of the causes of recurrent ipsilateral ischemic stroke following the occlusion of the internal carotid artery (ICA). The present study describes a case of left CSS in a 50-year-old patient presenting with a central retinal artery embolism following internal carotid and middle cerebral artery occlusion. The central retinal artery embolism was believed to be a consequence of microemboli, which originated from the stump of the occluded ICA, passing into the ophthalmic artery due to external carotid-internal carotid anastomotic channels, although the other possible pathophysiological causes of this condition are discussed. Digital subtraction angiography of the patient showed trickle flow in the occluded ICA during the venous phase, by which the stump emboli may have been transported to the ophthalmic artery. The patient was successfully treated with anticoagulation therapy without surgical or endovascular treatment. PMID:26622457

  5. [Post-polio syndrome - a case report].

    PubMed

    Pastuszak, ?anna; Tomczykiewicz, Kazimierz; St?pie?, Adam

    2015-07-01

    Post-polio syndrome occurs 30-40 years after polio virus infection. The main symptoms of PPS are slowly progressive muscle limbs paresis with muscle atrophy, joints pain, paresthesia. In 90% of patients the main symptom is fatigue that leads to physical and mental activity deterioration. The cause of disease remains unknown. Probably it is an effect of motoneurons damage during acute virus polio infection, their overloading and degeneration of remaining ones. In this study we described a case of man who developed PPS 36 years after Heine-Medin disease. The main symptom was intensification of right limb paresis and muscle atrophy. In electromyography there were damage features of muscle clinically affected and unaffected. Changes in lifestyle made possible to continue occupational activity. PMID:26277176

  6. [Hughes-Stovin Syndrome, a case report].

    PubMed

    Pankl, Sonia; Meraldi, Ana; Pegoraro, Paola; Earsman, Geofredo; Bruetman, Julio E; Ceresetto, José; Bosio, Martín; Lyons, Gustavo; Young, Pablo

    2015-01-01

    The Hughes-Stovin syndrome is a rare entity characterized by deep vein thrombosis and pulmonary artery aneurysms of unknown etiology and pathogenesis. Some authors considered a variant of Behcet's disease. Its natural course is usually fatal. The symptoms are cough, dyspnea, hemoptysis, chest pain and fever. The treatment goes from steroids and cytotoxic agents to surgery. We present the case of a 41 year old man who shows dyspnea, hemoptysis, and chest pain leading to the diagnosis of deep venous thrombosis of the right leg, lung thromboembolism and pulmonary artery aneurysms. He was treated with high-dose corticosteroids and 6 cyclophosphamide pulses of 1 gram each per 6 months with complete regression of aneurysms and symptomatology. PMID:25919871

  7. 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

  8. Features of Two Cases with 18q Deletion Syndrome

    PubMed Central

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

    2014-01-01

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

  9. Anesthetic management in a case of antiphospholipid antibody syndrome

    PubMed Central

    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

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

    PubMed Central

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

    1994-01-01

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

  11. 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

  12. A case of neonatal Jeune syndrome expanding the phenotype

    PubMed Central

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

    2014-01-01

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

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

    E-print Network

    Ramakrishnan, Naren

    Modeling to Predict Cases of Hantavirus Pulmonary Syndrome in Chile Elaine O. Nsoesie1 Health, McGill University, Montreal, Canada Abstract Background: Hantavirus pulmonary syndrome (HPS) is a life threatening disease transmitted by the rodent Oligoryzomys longicaudatus in Chile. Hantavirus

  14. Longevity of a Woman with Down Syndrome: A Case Study.

    ERIC Educational Resources Information Center

    Chicoine, Brian; McGuire, Dennis

    1997-01-01

    This case study of an 83-year-old woman with Down syndrome suggests she is the longest surviving person with the condition. Also noted is the lack of decline in mental function and performance of activities of daily living despite the apparently universal presence of the neuropathologic changes of Alzheimer's disease in persons with Down syndrome

  15. Hermann Friedberg's case report: an early description of CLOVES syndrome.

    PubMed

    Alomari, A I; Thiex, R; Mulliken, J B

    2010-10-01

    CLOVES syndrome is a recently described overgrowth disorder with complex vascular anomalies. Careful analysis of the case report by the German physician Hermann Friedberg "gigantism of the right lower limb" published in 1867 revealed that the report probably represents one of the first written accounts of CLOVES syndrome. PMID:21050185

  16. 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

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

    PubMed

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

    2014-01-01

    Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before. PMID:25804017

  18. 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

  19. Ascher syndrome: Review of literature and case report

    PubMed Central

    Ramesh, B. A.

    2011-01-01

    A 13 year old girl presented with aesthetic deformity of upper lip since birth. She also presented with eyelid swelling on and off for 11 months. She was diagnosed to be a rare case of Ascher syndrome. Ascher syndrome commonly presents with double lip and blepharochalasis, sometimes associated with goitre. The deformity of her double upper lip was corrected by appropriate surgery. Because her blepharochalasis is in active stage now, she is under periodic follow up for appropriate intervention. This article describes the management of the patient and brief overview of the syndrome. Ascher syndrome is often missed or misdiagnosed commonly. PMID:21713204

  20. 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

  1. Case report A case of severe hyperkalaemia and compartment syndrome due to

    E-print Network

    Peak, Derek

    Case report A case of severe hyperkalaemia and compartment syndrome due to rhabdomyolysis after of the non-traumatic rhabdomyolysis, which have been related to drug abuse, alcohol, etc. We report on a case of bilateral tibial compartment syndrome, severe hyperkalaemia and rhabdomyolysis after drug abuse. A 35-year

  2. Still's disease, lupus-like syndrome, and silicone breast implants. A case of 'ASIA' (Shoenfeld's syndrome).

    PubMed

    Jara, L J; Medina, G; Gómez-Bañuelos, E; Saavedra, M A; Vera-Lastra, O

    2012-02-01

    In recent years, four conditions, siliconosis, Gulf War syndrome (GWS), macrophagic myofasciitis syndrome (MMF) and post-vaccination phenomena, were linked to a previous exposure to an adjuvant, suggesting a common denominator, and it has been proposed to incorporate comparable conditions under a common syndrome entitled Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA). We report a case of a female who at the age of 11 years was diagnosed with Still's disease. At the age of 22 she underwent silicone breast implants and presented with a transient lupus-like syndrome. Then, at 25 years old she had a severe activation of Still's disease in association with rupture of silicone breast implants. When the prostheses were removed, the clinical picture improved. This case fulfills the criteria for ASIA and complements seven previous reports of Still's disease in association with silicone breast implants. PMID:22235044

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

    PubMed

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

    2012-04-01

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

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

    PubMed Central

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

    2012-01-01

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

  5. 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

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

    PubMed

    Kashyap, Subhash; Shanker, Vinay; Sharma, Neeraj

    2014-10-01

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

  7. 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

  8. Eagle's syndrome: A rare case of young female.

    PubMed

    Baseer, Mohammad Abdul; Alenazy, Mohammed Suliman

    2013-07-01

    Eagle's syndrome is a condition that causes pain in the Craniofacial and cervical region of the neck. Symptoms related to the Eagle's syndrome may be confused with the variety of neuralgias, oral, dental and temporomandibular joint (TMJ) conditions. In this paper, a case of the very young female suffering with the difficulty in swallowing and recurrent dull pain in the throat with restriction of the movement of head to the left side was presented. A thorough past medical and dental history, extra oral and intra oral examination coupled with the panoramic radiographic interpretation were used to diagnose Eagle's syndrome. PMID:24130598

  9. 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

  10. Haemodialysis in 'hepatorenal syndrome': report on two cases.

    PubMed Central

    Keller, F; Wagner, K; Lenz, T; Pommer, W; Hahn, G; Molzahn, M; Krause, P H

    1985-01-01

    We report two patients with hepatorenal syndrome who recovered from oliguria and renal failure after temporary treatment with haemodialysis. Hepatorenal syndrome developed under diuretic treatment in both patients. Volume expansion, dopamine, and prostaglandin I2 did not improve renal function. In the one patient with alcoholic cirrhosis, renal biopsy showed only minimal alterations of glomeruli, tubuli, and arterial vessels. In the other case, the deterioration and improvement in renal function parallelled changes in acute alcohol-toxic hepatic function. We conclude that haemodialysis should be considered for treatment of hepatorenal syndrome in selected patients where reversal of liver failure can be expected. Images Fig. 1 PMID:3967839

  11. Cataract surgery in Knobloch syndrome: a case report

    PubMed Central

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

    2011-01-01

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

  12. 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

  13. 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

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

    PubMed

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

    2015-07-01

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

  15. 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

  16. 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

  17. 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…

  18. 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.…

  19. A Case of Concurrent Proteus Syndrome and Hemophilia A

    PubMed Central

    Hashemieh, Mozhgan; Mansoori, Bahar; Tavakoli, Reza; Sheibani, Koroush

    2012-01-01

    Background Proteus syndrome is a very rare condition with less than 100 confirmed cases reported worldwide. We report a case of Proteus syndrome in a two-year-old male who has hemophilia A comorbidity. Case Presentation A two-year-old male patient was admitted with the chief complaint of severe bleeding in mouth cavity after trauma for two weeks. At admission he was found to have petechiae on buccal mucosa and fecal discoloration due to GI bleeding. We noted multiple abnormalities in his musculoskeletal system and skin. He had lymph edema in left leg, hemihypertrophy, macrodactyly in both foots and macrocephaly. With the history of severe bleeding and recurrent blood product transfusion, we suspected a hemorrhagic disorder. The reduced level of Factor VIII activity confirmed the diagnosis of hemophilia A. Considering patient's various musculoskeletal abnormalities according to the diagnostic criteria and after ruling out similar disorders the diagnosis of Proteus syndrome was established. Conclusion Because of the variability of clinical features, Proteus syndrome can be confused with other disorders of multiple tissue overgrowth. Our case of Proteus syndrome, who had hemophilia A comorbidity outlines the challenges in diagnosis of such rare combination of diseases. PMID:23056896

  20. 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

  1. 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

  2. Syncope as initial symptom for nephrotic syndrome: a case report

    PubMed Central

    Wu, Xuemei; Wang, Guangliang; Feng, Jiachun

    2015-01-01

    Although syncope and nephrotic syndrome are frequently encountered independently in pediatric practice, syncope as the initial symptom for nephrotic syndrome is rarely observed in the pediatric age group. In this report, we present the case of 3-year-old boy with nephrotic syndrome who presented with a history of three episodes of syncope before admission. The syncope occurred after excessive fluid loss or inadequate intake of fluids and was relieved spontaneously. History taking revealed that the early morning palpebral edema, and laboratory tests showed decreased plasma protein levels and elevated serum lipid levels. Nephrotic syndrome was diagnosed, but could not be confirmed histopathologically because the patient’s parent refused consent for biopsy. The patient was managed with fluid expansion, correction of acidosis, and improvement of microcirculation to prevent recurrence of syncope, and glucocorticoids were administered to prevent disease progression. PMID:26629237

  3. [Ectodermal dysplasia, ectrodactyly and clefting syndrome: ocular manifestations of this syndrome in a case report].

    PubMed

    Almeida, Sandra Flávia Fiorentini de; Solari, Helena Parente

    2007-01-01

    A case of ectodermal dysplasia, ectrodactyly and clefting syndrome (EEC), a rare disease with an important ocular impairment and with scarce literature. Patient, 26 years old with complaints of pain, with photophobia and low visual acuity in the left eye for three days. The patient was submitted to a genetic investigation after complete physical and ophthalmologic examinations. EEC syndrome was diagnosed and all systemic and ocular modifications identified. The patient presented a scar in the left eye, with difficulties in healing due to ocular damage caused by the syndrome (lack of tear film, trichiasis, Meibomius gland absence, among others). The ocular modifications in this rare syndrome were described in order to institute preventive treatment and to reduce the risks of low visual acuity in patients who receive this genetic diagnosis. PMID:17505732

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

    PubMed Central

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

    1980-01-01

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

  5. 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

  6. 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

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

    PubMed

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

    2015-07-01

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

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

    PubMed Central

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

    2013-01-01

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

  10. [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

  11. Panayiotopoulos syndrome: a case series from Turkey.

    PubMed

    De?erliyurt, Aydan; Teber, Serap; Bekta?, Omer; Senkon, Gözde

    2014-07-01

    The aim of the study was to evaluate the demographic, clinical, and EEG characteristics of patients with Panayiotopoulos syndrome (PS) and the course of their illness. Thirty-eight patients followed up with a diagnosis of PS between January 2011 and December 2013 were evaluated. We found high rates of personal history of febrile convulsions, breath-holding spells, and family history of febrile convulsions, afebrile convulsion/epilepsy, migraine, and breath-holding spells. Seizures started before the age of eight in 87% of the patients, and the mean age at seizure onset was 4.6 years. Seizures were sleep-related in 81.5%, and autonomic status was seen in a third of the patients. The number of seizures was between 2 and 10 in 66% of the patients. The most common symptoms were ictus emeticus, eye/head deviation, and altered consciousness. Rolandic features were seen in 26% of the patients, and visual symptoms in 5%. Multifocal epileptiform discharges on EEG were identified in 84% of the patients. Two or more antiepileptic drugs were required in only 13% of the patients. Evolution to electrical status epilepticus in sleep and Gastaut-type epilepsy were seen in patients with more than ten seizures. The high rates of febrile convulsions, afebrile convulsions/epilepsy, migraine, and breath-holding spells in the patients and families suggest the importance of genetic factors and, perhaps, a common pathogenesis. However, the high rates of febrile convulsions and breath-holding spells in patients can be related to a misdiagnosis because of the similar symptoms. Despite its disturbing symptoms, PS is a benign epileptic syndrome requiring multiple antiepileptic drug use only in a small proportion of patients. PMID:24840752

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

    PubMed

    Chakrabarti, Subrata

    2015-03-01

    Cronkhite-Canada syndrome (CCS) is an extremely rare non-inherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, weight loss and diarrhoea. The aetiology is probably autoimmune and diagnosis is based on history, physical examination, endoscopic findings of gastrointestinal polyposis, and histology. The disease is very rare; approximately 450 cases of CCS have been reported worldwide. The author reports a case of CCS in an elderly Indian male. PMID:25954656

  13. Popliteal Artery Entrapment Syndrome: Report of 2 Critical Aspects Cases.

    PubMed

    Zaghloul, Rachid; Naouli, Hamza; Bouarhroum, Abdelatif

    2015-11-01

    Popliteal artery entrapment syndrome is a rare and underdiagnosed cause of claudication in young adult. The typical clinical feature is calf claudication; the following case reports describe 2 rare clinical aspects, acute limb ischemia and pulsatile mass revealing a bilateral anatomic entrapment. These cases suggest that an early diagnosis is mandatory to avoid a dramatic clinical outcome and to limit the surgical treatment to a myotomy. PMID:26315789

  14. 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

  15. 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

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

    PubMed

    Russo-Menna, I; Arancibias, C

    2010-02-01

    The HGPS (Hutchinson Gilford Progeria Syndrome) is a rare genetic disorder with an incidence of 1 per 8 million live births. Originally described in 1886, less than 100 cases have been reported. The syndrome is characterized by premature aging with changes in many organs. The diagnosis is usually made by age 2, the mean survival age is 13.4 years and the most common cause of death is myocardial infarction. Recent genetic advances have identified the cause as a defect in the LMNA gene of chromosome 1. PMID:20150858

  17. RETT's syndrome in Korea--report of two cases.

    PubMed

    Choi, Y C; Lee, B I; Huh, K; Kim, G W

    1991-06-01

    Rett's syndrome(RS) is a progressive neurodegenerative disorder characterized by exclusive occurrence in females, autistic behavior, dementia, gait ataxia, loss of purposeful use of the hands with stereotypic hand movement, and seizures. Initially RS was considered to be very rare; however, recent reports suggest that the prevalence is considerably higher and occurrence is world-wide. Because the pathophysiological process remains unknown, the diagnosis of RS is based mainly on its characteristic clinical features and course. We experienced two cases of RS which, to our knowledge, are the first reported in Korea. It is quite possible that many patients with RS not yet being diagnosed in Korea. PMID:1949920

  18. [Maternal incompetence syndrome. Report of three cases (author's transl)].

    PubMed

    Frontera-Izquierdo, P; Pedro-Gil, J

    1978-03-01

    This paper presents three cases of children suffering from repeated diseases and failure to thrive as a consequence of maternal inability in providing health care. Mother's oligophrenia, poverty, and familial unbalance were underlying causes. Authors define maternal incompetence syndrome as the association of mother's incapacity to provide proper health care with direct injury to the child and decreased growth rate. The relationship between this syndrome and the pediatric social illness is discussed. Strategies for treatment should include creation of multidisciplinary teams of social pediatricians, social workers and psychologists, and development of health education programs. PMID:666129

  19. 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

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

    PubMed

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

    2015-10-01

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

  1. 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

  2. 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

  3. Slow onset cauda equina syndrome: a case report *

    PubMed Central

    Crowther, ER

    1993-01-01

    Cauda equina syndrome (CES) is characterized by low back pain, sciatica, lower limb motor weakness and sensory deficits, saddle anaesthesia, bowel and bladder dysfunction and occasionally paraplegia. The syndrome is classified according to onset: rapid or slow. Rapid onset CES, because of its characteristic presentation is easily recognized. The slow, chronic progression and varying presenting signs and symptoms of slow onset CES often mimic mechanical low back pain and makes the diagnosis difficult in its early stages. The case of a 23-year-old female with slow onset cauda equina is presented to illustrate this. A discussion of lumbar spine anatomy as it relates to the clinical presentation of cauda equina syndrome and the influence of associated degenerative factors follows. The most common presenting signs and symptoms are reviewed with special emphasis on those which can help diagnose CES in its early stages. Patients prognosis following surgical decompression is highlighted. ImagesFigure 1aFigure 1bFigure 2

  4. 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

  5. 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

  6. 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

  7. [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

  8. Churg Strauss syndrome associated with montelukast--case report.

    PubMed

    Man, Milena Adina; Alexandrescu, Dana; Pop, Monica; Trofor, Antigona

    2012-01-01

    Churg-Strauss Syndrome (allergic granulomatous angiitis) is a rare systemic and pulmonary vasculitis. We report the case of a 62 years old female, non-smoker, with a 20 years history of moderate persistent asthma treated with Salmeterol/Fluticasone 50/500 microg bid for 5 years and supplemental Montelukast in the past 5 months. The patient was admitted in our hospital with fever, malaise, sensory deficits in the lower extremities, diffuse musculoskeletal and thoracic pain. Blood eosinophil was 38% of her total WBC, thoracic computed tomography evidenced ill-defined groundglass attenuation predominantly involving the lateral segment of the middle lobe. Pulmonary infiltrates with eosinophilia can be used to define eosinophilic lung diseases. We made the differential diagnosis of eosinophilic lung disease: acute or chronic eosinophilic pneumonias, allergic bronchopulmonary aspergillosis, Loffler syndrome, Churg-Strauss syndrome, bronchocentric granulomatousis, idiopathic hypereosinophilic syndromes. Bronchoalveolar lavage showed 14.6% eosinophils. Few days after hospital admission patient experienced nausea, vomiting and diarrhea. She underwent a digestive endoscopy, which showed eosinophilic enteritis according to colon biopsy. Nasal mucosa biopsy found granulomas. Anti-neutrophil cytoplasmatic antibody (ANCA) was positive at 1:20. She displayed more than four American College of Rheumatology (ACR) criteria for Churg-Strauss Syndrome (developed while she was receiving montelukast therapy). Discontinuation of Montelukast and association of oral prednisone (1 mg/kgc) induced rapid improvement of symptoms and rapid decrease of peripheric eosinophils (72 hours). This case report illustrates the importance of early diagnosis of Churg-Strauss syndrome and the possible pathogenic link between leukotriene receptor antagonist use and CSS development. PMID:22783603

  9. 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

  10. 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

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

    PubMed Central

    Ziaee, Vahid; Moradinejad, Mohammad Hassan; Bayat, Reyhaneh

    2013-01-01

    Objective. Overlap of juvenile idiopathic arthritis (JIA) and juvenile systemic lupus erythematosus (JSLE) is a rare clinical condition in children. This condition has been described as RHUPUS syndrome. Prevalence of this syndrome and 3 cases are reported in this paper. Cases Presentation. During 10 years, 3 patients with SLE had chronic arthritis before or after diagnosis of SLE. Prevalence of this disorder in JSLE was 2.5%. Two patients were females and one of them was a male. According to our review, mean delay between chronic joint involvement and JSLE diagnosis was 50.1 months. In our case report, two females had joint erosion and one of them died due to heart failure, but in the literature review, just 45% cases had joint erosion and 70% cases were polyarticulare form. Conclusion. RHUPUS is unusual presentation of lupus in children. It seems that clinical feature and outcome of RHUPUS syndrome are different in children due to difference between RA and JIA. We suggest juvenile RHUPUS for overlap of JIA and JSLE. PMID:23762733

  12. 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

  13. 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

  14. 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.

  15. 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

  16. 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

  17. 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

  18. A Case of Capgras Syndrome Related to Hypothyroidism.

    PubMed

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

    2015-11-01

    Hypothyroidism is commonly associated with a variety of psychiatric conditions, most commonly depression and cognitive impairment, but up to 5% to 15% of symptomatically hypothyroid patients may develop a nonaffective psychosis, classically referred to as "myxedema madness." We report the case of a woman who developed Capgras syndrome in the context of hypothyroidism, and whose psychosis rapidly resolved with levothyroxine supplementation. To date, very few cases of Capgras syndrome related to hypothyroidism have been reported. The pathophysiology of this condition remains unclear but it may be related to global cerebral hypometabolism or possibly to increased cerebral dopamine. Given the robust response of "myxedema madness" to thyroid replacement, psychiatrists should remain vigilant for covert hypothyroidism in patients with psychosis and atypical histories or presentations. PMID:26554328

  19. [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

  20. 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

  1. Duodenojejunal intussusception in Peutz-Jeghers syndrome: Report of a case.

    PubMed

    Aiyappan, Senthil Kumar; Kang, Mandeep; Yadav, Thakur Deen; Das Radotra, Bishan; Khandelwal, Niranjan

    2010-12-01

    Recurrent intussusception is one of the common modes of presentation in patients with Peutz-Jeghers syndrome. This report presents a case of Peutz-Jeghers syndrome with synchronous duodenojejunal and jejunojejunal intussusceptions due to hamartomatous polyps. Very few cases of duodenojejunal intussusception in Peutz-Jeghers syndrome patients have so far been reported in the literature. PMID:21110166

  2. Susac syndrome: a case report and PET imaging findings.

    PubMed

    Dielman, Charlotte; Laureys, Guy; Meurs, Alfred; Bissay, Veronique; Ebinger, Guy

    2009-09-01

    We describe the case of a twenty-year-old woman with subacute encephalopathy, who subsequently developed hearing loss and ophtalmopathy. The clinical triad and typical findings on magnetic resonance imaging and cerebrospinal fluid analysis led to the diagnosis of Susac syndrome. Brain positron emission tomography showed abnormalities which are comparable with other types of central nervous system vasculitis, and distinct from those found in multiple sclerosis. PMID:19902818

  3. Alien Hand Syndrome in Stroke - Case Report & Neurophysiologic Study -

    PubMed Central

    Park, Yong Won; Kim, Chang Hwan; Kim, Myeong Ok; Jeong, Hyung Joon

    2012-01-01

    Alien Hand Syndrome is defined as unwilled, uncontrollable, but seemingly purposeful movements of an upper limb. Two major criteria for the diagnosis are complaint of a foreign limb and complex, autonomous, involuntary motor activity that is not part of an identifiable movement disorder. After a cerebrovascular accident in the corpus callosum, the parietal, or frontal regions, various abnormal involuntary motor behaviors may follow. Although different subtypes of Alien Hand Syndrome have been distinguished, this classification clearly does not cover the wide clinical variety of abnormal motor behaviors of the upper extremity. And there are few known studies about the neurophysiology of this syndrome using transcranial magnetic stimulation (TMS). We recently experienced 2 rare cases of Alien Hand Syndrome which occurred after anterior cerebral artery (ACA) infarction. A 72 year-old male with right hemiplegia following a left ACA infarct had difficulty with voluntarily releasing an object from his grasp. A 47 year-old female with left hemiplegia following a right ACA infarct had a problem termed 'intermanual conflict' in which the two hands appear to be directed at opposing purposes. Both of them had neurophysiologic studies done, and showed reduced amplitude by single pulse MEP and a lack of intracortical inhibition (ICI) by paired pulse TMS. No abnormalities were found in SSEP. PMID:22977783

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

    PubMed Central

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

    2009-01-01

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

  6. 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

  7. 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.

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

    PubMed Central

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

    2015-01-01

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

  9. A case of Sotos syndrome with subduroperitoneal shunt.

    PubMed

    Park, Seoung Woo; Park, Moon Sung; Hwang, Jin Soon; Shin, Yong Sam; Yoon, Soo Han

    2006-01-01

    The authors present a case of Sotos syndrome with increasing severity of subdural hygroma from the age of 5 months, which was managed with a subduroperitoneal shunt at 10 months of age. The patient had been followed up until 30 months of age with continuing improvement of symptoms. The patient initially presented with dolichocephaly accompanied by macrocrania, early tooth development, repeated pneumonia infections and developmental retardation concerning crawling, sitting, walking and speaking at 5 months of age. Magnetic resonance imaging (MRI) demonstrated partial hypoplasia of the corpus callosum and bifrontal subdural hygroma. The patient underwent subduroperitoneal shunting at 10 months of age with partial improvement of symptoms. At 18 months of age, the patient showed increased irritability and sweating, and development of spinal kyphosis, which resulted from shunt malfunction as shown in the shuntogram. The appearance of cervical syringomyelia was also seen in the MRI. After shunt revision, the irritability, sweating and kyphosis improved along with disappearance of the syringomyelia. The authors describe a case of Sotos syndrome with subduroperitoneal shunt that showed syringomyelia which developed with shunt malfunction but disappeared after shunt revision. We emphasize the importance of active management such as subduroperitoneal shunting to drain the cerebrospinal fluid in the Sotos syndrome. PMID:16636621

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

    PubMed Central

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

    2015-01-01

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

  11. 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

  12. 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

  13. 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

  14. 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

  15. A case of idiopathic hypereosinophilic syndrome presenting with acute respiratory distress syndrome.

    PubMed

    Lim, Kyung-Suk; Ko, Jaehoon; Lee, Seong Soo; Shin, Beomsu; Choi, Dong-Chull; Lee, Byung-Jae

    2014-01-01

    Although idiopathic hypereosinophilic syndrome(IHES) commonly involves the lung, it is rarely associated with acute respiratory distress syndrome (ARDS). Here we describe a case of IHES presented in conjunction with ARDS. A 37-year-old male visited the emergency department at Samsung Medical Center, Seoul, Korea, with a chief complaint of dyspnea. Blood tests showed profound peripheral eosinophilia and thrombocytopenia. Patchy areas of consolidation with ground-glass opacity were noticed in both lower lung zones on chest radiography. Rapid progression of dyspnea and hypoxia despite supplement of oxygen necessitated the use of mechanical ventilation. Eosinophilic airway inflammation was subsequently confirmed by bronchoalveolar lavage, leading to a diagnosis of IHES. High-dose corticosteroids were administered, resulting in a dramatic clinical response. PMID:24404401

  16. 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

  17. [Foreign accent syndrome in a case of dissociative (conversion) disorder].

    PubMed

    Tsuruga, Koji; Kobayashi, Toshiyuki; Hirai, Nobuhide; Kato, Satoshi

    2008-01-01

    Psychiatric symptoms are often manifested in verbal expression. Generally, the contents of such expression are pathological. The formal abnormalities of speech are also observed in various mental disorders, as far as quantitative abnormalities are concerned. However, disturbance of intonation, namely disprosody, is more commonly observed in organic disorders of the brain. When the accent of words and the intonation of sentences changes from that of a native speaker, the speech sounds like the broken language of untrained foreigners. Such foreign accent syndrome is usually an issue of neuropsychology. In this paper, the authors report a case of foreign accent syndrome without organic brain syndrome. The patient was a 44-year-old woman, who developed panic disorder about year after her father's death. Then she developed aphonia. After aphonia was resolved, she began to speak haltingly as if a Chinese woman was trying to speak Japanese. Organic brain diseases were subsequently excluded. She had complicated familial conflicts, including a divorce from a violent and faithless husband, interpersonal difficulties with her husband's parents, and her pubertal daughter. We diagnosed her with dissociative (conversion) disorder of ICD-10. Our patient is clinically interesting, because case reports of dysprosody are unusual and often involve organic brain diseases. We suppose that foreign accent syndrome in our patient is a variant of aphonia, and the patient unconsciously assigned the symptom two ambivalent rolls: to snow that she cannot speak well, and to express her meaning. In addition, she had a Chinese-speaking aunt-in-law who was her ideal role model. We surmise that her symptom signifies identification with her aunt-in-law. PMID:18416192

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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

  3. [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

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

    PubMed Central

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

    2014-01-01

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

  5. 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

  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. 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…

  8. 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

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

    PubMed Central

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

    2014-01-01

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

  10. [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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. A curious case of acute respiratory distress syndrome.

    PubMed

    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

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

    PubMed Central

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

    2015-01-01

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

  19. Refeeding syndrome in a vegan patient with stage IV gastric cancer: a novel case.

    PubMed

    Brown, Teresa V; Moss, Rebecca A

    2015-03-01

    The refeeding syndrome encompasses the complex physiologic state that occurs in malnourished patients who receive nutrition after a period of decreased oral intake. The hallmark of the syndrome is hypophosphatemia, though other electrolyte imbalances and severe fluid shifts are commonly involved. Patients with newly diagnosed malignancies and those undergoing treatment for malignancies are at increased risk for developing the refeeding syndrome, however there are few reported cases or other data in the oncology literature regarding this syndrome in cancer patients. PMID:25880674

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

    PubMed Central

    2014-01-01

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

  1. 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

  2. Serotonin Syndrome Induced by Fentanyl in a Child: Case Report.

    PubMed

    Robles, Luis A

    2015-01-01

    Serotonin syndrome (SS) is a potentially fatal condition associated with increased serotonergic activity in the central nervous system that can be attributed to certain drugs or interactions between drugs. There are some published articles reporting this syndrome caused by the combination of fentanyl and selective serotonin reuptake inhibitors antidepressants in adult patients; however, there are no reports of SS associated to the use of fentanyl as a single causative agent. The author reports a case of a 7-year-old boy who was admitted to the emergency department with neurological deterioration secondary to an intracerebral hemorrhage. The patient was operated to remove the bleeding. Postoperatively, he experienced a diversity of progressive neurological signs (shivering, tremor, hypertonia, hyperreflexia, clonus, bilateral mydriasis, and intracranial hypertension), which were initially considered to be signs of neurological deterioration, but finally, it was proved that they were part of a SS caused by fentanyl.The absence of concomitant use of another medications known to induce SS and the dramatic improving observed after stopping fentanyl strongly indicates that fentanyl was the causative agent in this case of SS.Fentanyl is a medication used frequently, and therefore, clinicians should be aware of this potential adverse effect when this drug is administered. PMID:26366964

  3. 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

  4. 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

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

    PubMed

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

    2014-10-01

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

  6. 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

  7. 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

  8. Two cases of acute myelitis with idiopathic hypereosinophilic syndrome.

    PubMed

    Tohge, Rie; Warabi, Yoko; Takahashi, Makio; Nagao, Masahiro

    2014-01-01

    Idiopathic hypereosinophilic syndrome (IHES) is characterised by persistent eosinophilia and organ damage after ruling out other causes. IHES is clinically and pathologically heterogeneous, and several disease mechanisms have been described. Although neurological involvement with IHES is extremely rare, we report the first cases of acute myelitis with IHES, which are confirmed using MRI, fulfil the diagnostic criteria of IHES and pathologically reveal eosinophilic tissue infiltration in the liver and skin. Patient 1 had longitudinally extensive transverse myelitis, which developed in the absence of steroid therapy. Patient 2 developed acute myelitis with two short lesions during a 3?mg/day corticosteroid treatment. Both cases had eosinophilia (>1500/mm(3)) at the onset of myelitis. These findings suggest that earlier treatment and a sufficient dose of corticosteroids may prevent the lesional expansion in acute myelitis. Steroid therapy should be initiated early before organ involvement, because permanent neuronal damage with a larger lesion becomes more critical. PMID:24849647

  9. 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

  10. 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

  11. 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

  12. A case report of pornography addiction with dhat syndrome

    PubMed Central

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

    2014-01-01

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

  13. 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

  14. 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

  15. 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.

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

    PubMed

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

    2011-07-01

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

  17. 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

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

    PubMed

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

    2012-01-01

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

  19. 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

  20. Sensory Guillain-Barré syndrome: A case report

    PubMed Central

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

    2014-01-01

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

  1. 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

  2. An uncommon case of Marine-Lenhart syndrome.

    PubMed

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

    2014-06-01

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

  3. 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

  4. 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

  5. Idiopathic dilated episcleral vessels (Radius-Maumenee syndrome): case report.

    PubMed

    Stock, Ricardo Alexandre; Fernandes, Natalie Lucas; Pastro, Nathan Lopes; Oliveira, Rafaela Santini de; Bonamigo, Elcio Luiz

    2013-01-01

    Radius-Maumenee syndrome comprises idiopathic dilated episcleral vessels that are usually associated with glaucoma. The case described herein is of a male patient, 69 years old, with chronic dilation of the episcleral vessels and glaucoma in his left eye, with no history of systemic disease. Visual acuity and fundoscopy were normal in both eyes. Tonometry measured 14 mmHg in the right eye and 25 mmHg in the left. Computed tomography angiography (CTA) was negative for carotid-cavernous fistula. The intraocular pressure of the left eye decreased to 20 mmHg with clinical treatment without regression of episcleral venous dilation. Trabeculectomy normalized the intraocular pressure and reduced the vessels. There was choroidal effusion on day 16 of the postoperative period, which resolved with corticosteroids. Although choroidal effusion can occur, the efficacy of trabeculectomy in controlling glaucoma and the reduction of episcleral vessels are clearly demonstrated. PMID:23812528

  6. 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…

  7. 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;…

  8. A case of Ohtahara syndrome with olivary-dentate dysplasia and agenesis of mamillary bodies.

    PubMed

    Trinka, E; Rauscher, C; Nagler, M; Moroder, T; Ladurner, G; Irnberger, E; Sperl, W; Pilz, P

    2001-07-01

    We report a patient with early infantile epileptic encephalopathy (EIEE) with suppression-burst (Ohtahara syndrome) associated with olivary-dentate dysplasia and agenesis of mamillary bodies is reported. Although those with Ohtahara syndrome are a heterogeneous group, virtually all reported cases are secondary to neuronal migrational disorders, sometimes only identified by detailed neuropathologic examination, as in this case report, which describes mamillary body agenesis as a not-yet-recognized anomaly associated with Ohtahara syndrome. All children with Ohtahara syndrome should have high-resolution magnetic resonance imaging (MRI) and detailed postmortem neuropathologic examinations. PMID:11488899

  9. Is Complex Regional Pain Syndrome a Cause of Post-Operative Syndrome in the Lumbar Spine? - A Case Report -

    PubMed Central

    Kim, Tae Kyun; Shim, Dae Moo; Kim, Yeung Jin; Choi, Deok Hwa

    2009-01-01

    Complex regional pain syndrome (CRPS) along with post-operative syndrome in the lumbar spine shows confusing and duplicated symptoms, and this makes it difficult to make a clear differential diagnosis. Therefore, the patient with post-operative syndrome in the lumbar spine suffers losses of time and money, and the surgeon who diagnoses and treats post-operative syndrome in the lumbar spine also agonize from the patient's losses. It is necessary to provide these patients with a multidisciplinary approach to their disease and symptoms. We diagnosed herniation of an intervertebral disc of the lumbar spine (L4/5) and we performed discetomy twice in different hospitals. However, the symptoms did not improve, so we re-operated and performed discetomy along with monosegmental fixation using pedicular screws and interbody cages. There was improvement of pre-operation symptoms, but neurogenic symptoms occurred and then progressed after the surgery. Therefore, we report here on the case of CRPS that was diagnosed with the exclusion of the causes of post-operative syndrome in the lumbar spine, and the patient was finally effectively treated with spinal cord stimulation. Although differentiating post-operative syndrome in the lumbar spine from CRPS is difficult, we recommend suspecting CRPS as the cause of post-operative syndrome in the lumbar spine and taking CRPS as the main interest in order to diagnose and treat CRPS more effectively and accurately. PMID:20404955

  10. Anterior plagiocephaly in an atypical case of apert syndrome.

    PubMed

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

    2013-06-01

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

  11. [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

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

    PubMed

    Jost, Gregory F; Dailey, Andrew T

    2015-04-01

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

  13. 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

  14. [HELLP syndrome: problems in diagnosis and treatment illustrated on the basis of the fully symptomatic case].

    PubMed

    Pajak, J; Heimrath, J; Hirnle, L; Go?ebiowski, T; Dawidowicz, D

    2000-04-01

    HELLP syndrome is a serious complication of Pregnancy-Induced Hypertension (PIH) which is very dangerous for the mother and her foetus. The prognosis depends on early diagnosis and correct treatment. The etiopathogenesis of the syndrome is still investigated but remains unclear. Taking as an example the precisely monitored, fully symptomatic case of the HELLP syndrome, we present review of modern opinions on pathogenesis, recognition and treatment. PMID:10860262

  15. 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

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

    PubMed

    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

  17. [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

  18. Leg ulcer in Werner syndrome (adult progeria): a case report.

    PubMed

    Fumo, Giuseppe; Pau, Monica; Patta, Federico; Aste, Nicola; Atzori, Laura

    2013-01-01

    Werner syndrome (WS; MIM#277700) or adult progeria, is a rare disease, associated with mutations of a single gene (RECQL2 or WRN), located on chromosome 8 (8p12). It codes a DNA-helicase, whose defects cause genomic instability. The highest incidences are reported in Japan and Sardinia (Italy). On this major island of the Mediterranean Basin, the WS cases have been observed in the northern areas. The authors describe the apparently first case reported in southern Sardinia, a 51-year-old woman, who was born in and resides in the province of Cagliari. She presented with a 9-year history of an intractable leg ulcer and other characteristic symptoms, including "bird-like" face, high-pitched voice, premature greying, short stature, abdominal obesity in contrast with thin body type, scleroderma-like legs, decreased muscle mass, diabetes, atherosclerosis, and premature menopause. A specialized genetic Institute of Research (IRCCS-IDI, Rome) confirmed the clinical diagnosis. There is no cure or specific treatment and patients must be periodically screened for an increased risk of cardiovascular and cerebrovascular disease and malignancies. Among the many findings, leg ulcers significantly affect the patient's quality of life. This problem may send the patient to the dermatologist, who finally suspects the diagnosis. Poor response to medical treatment may require aggressive repeated surgery, with poor or temporary results. PMID:23552003

  19. A Case of Leser-Trélat Syndrome Associated with a Renal Cell Carcinoma

    PubMed Central

    Barth, Dietrich; Puhlmann, Silvio; Barth, Joachim

    2015-01-01

    Seborrheic keratoses can often be found in elderly people. In general, they appear gradually. In cases of a sudden eruption with itching it might be paraneoplastic. Although some authors doubt the existence of the paraneoplastic Leser-Trélat syndrome, we present a case of sudden eruption of seborrheic keratoses connected with a newly diagnosed renal cell carcinoma. As far as we know, this is the first case report of a Leser-Trélat syndrome with a malignancy of the kidney. PMID:26500537

  20. 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

  1. 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

  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. 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

  4. 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

  5. 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.…

  6. 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…

  7. 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)

  8. 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

  9. 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

  10. 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

  11. 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

  12. [Anaesthesia for infant with Jarcho Levin syndrome: case report].

    PubMed

    Geze, Sukran; Arslan, Ufuk; Tusat, Mustafa

    2015-01-01

    Jarcho Levin syndrome is a rare disorder. There are various vertebral and costal anomalies. Severe deformities and abnormal fusion of ribs and vertebrae cause respiratory insufficiency and pneumonia. We present anaesthesia in a patient with Jarcho Levin syndrome for vesicoureteral reflux. PMID:26363698

  13. Anaesthesia for infant with Jarcho Levin syndrome: case report.

    PubMed

    Geze, Sukran; Arslan, Ufuk; Tusat, Mustafa

    2015-01-01

    Jarcho Levin syndrome is a rare disorder. There are various vertebral and costal anomalies. Severe deformities and abnormal fusion of ribs and vertebrae cause respiratory insufficiency and pneumonia. We present anaesthesia in a patient with Jarcho Levin syndrome for vesicoureteral reflux. PMID:26323743

  14. 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

  15. 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

  16. 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

  17. A case of hyperimmunoglobulinemia d syndrome successfully treated with canakinumab.

    PubMed

    Tsitsami, Elena; Papadopoulou, Charis; Speletas, Matthaios

    2013-01-01

    Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl whose clinical picture had started before the end of the first year of life. The patient had consistently elevated IgD levels but no mutations were found after a full-length analysis of the MVK gene. The method of MVK mutational analysis is presented in details. Treatment with canakinumab in a final single dose of 4?mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patients' quality of life during a 12-month follow-up period. The drug has been well tolerated, and no side effects were observed. PMID:23691418

  18. A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab

    PubMed Central

    Tsitsami, Elena; Papadopoulou, Charis

    2013-01-01

    Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl whose clinical picture had started before the end of the first year of life. The patient had consistently elevated IgD levels but no mutations were found after a full-length analysis of the MVK gene. The method of MVK mutational analysis is presented in details. Treatment with canakinumab in a final single dose of 4?mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patients' quality of life during a 12-month follow-up period. The drug has been well tolerated, and no side effects were observed. PMID:23691418

  19. "Broken heart" syndrome in an elder abuse case: forensic considerations from the case.

    PubMed

    Assunção, Lino Aranda; Grams, Ana Clara; Ribeiro, Cristina Silveira; Magalhães, Teresa

    2011-06-01

    "Takotsubo" cardiomyopathy (also known as stress cardiomyopathy or "broken heart syndrome") is a recently recognised transient condition that frequently mimics acute coronary syndrome. It is typically precipitated by acute emotional stress. Elder abuse is the infliction of physical, emotional or psychological harm on an older adult. As in other forms of abuse, elder abuse is a complex problem, easily prone to misconceptions and, therefore, to under-reporting. Herein, the authors present a case of a 76-year-old Caucasian woman, living in a dysfunctional family environment, who presented to her local Emergency Department with acute chest pain following an altercation with her daughter. Diagnostic criteria for "takotsubo" cardiomyopathy were met, namely, ST-segment elevation and T-wave changes, a mild increase of cardiac enzymes, an akinesia of the mid-portion and apex of the left ventricle and no significant epicardial coronary artery disease. The victim was admitted to the Cardiac Department on the second day and her condition improved over the following week. She was discharged and sent home after the situation was reported to competent authorities and subsequently to medico-legal services, who assessed the situation while still in-hospital. The case implications are discussed, as well as the impact that such cases may have when addressing elder abuse management and prevention, with a view to improving the forensic examination of these patients. PMID:21318471

  20. “Nine” syndrome: A new neuro-ophthalmologic syndrome: Report of two cases

    PubMed Central

    Mahale, Rohan R.; Mehta, Anish; John, Aju Abraham; Javali, Mahendra; Abbas, Mirza Masoom; Rangasetty, Srinivasa

    2015-01-01

    “Eight-and-a-half” syndrome is a rare condition involving the ipsilateral abducens nucleus or paramedian pontine reticular formation (PPRF), the ipsilateral medial longitudinal fasciculus (MLF), and the adjacent facial colliculus/facial nerve fascicle. The condition is often caused by a lesion (vascular or demyelinating) in the dorsal tegmentum of the caudal pons. There are new variants of this syndrome caused by extension of lesion to involve new adjacent structures in pontine tegmentum. We report two patients with different etiology presenting with clinical features suggestive of eight-and-a-half syndrome associated with hemiataxia representing “nine” syndrome (8½ + ½ = 9) adding new dimension to “eight-and-a-half” syndrome. PMID:26425014

  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, J P; Lu, X T; Zhao, W H; Hua, Y

    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. 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

  4. Aortic regurgitation and mitral valve prolapse with Down's syndrome: a case-control study.

    PubMed

    Goldhaber, S Z; Brown, W D; Robertson, N; Rubin, I L; Sutton, M G

    1988-08-01

    This case-control study was designed to determine whether aortic regurgitation (AR) and mitral valve prolapse (MVP) are specifically associated with Down's syndrome, or occur in a comparably retarded population without Down's syndrome. The 92 control subjects resided at the same institution as the 131 cases, and had mental retardation attributable to low birth weight or perinatal asphyxia. Mean (+/- SD) ages of the cases and the control group were 41 +/- 11 years compared with 40 +/- 13 years, respectively. The relative risk of AR among the cases (those with Down's syndrome) was 2.9 (95% confidence interval, 0.65-13.2; P = 0.16) and that of MVP was 3.5 (95% confidence interval, 1.2-10.2; P = 0.02). The results showed that these two valvular abnormalities are specifically associated with Down's syndrome in adults. PMID:2975337

  5. 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

  6. Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature.

    PubMed

    Izadi, Farzad; Ahmadi, Aslan; Zobairy, Hosna; Bakhti, Sepideh; Hirbod, Hengameh; Safdarian, Mahdi

    2015-11-01

    Fraser syndrome is a rare genetic disorder characterized by cryptophthalmos, syndactyly and laryngeal atresia. Although laryngeal webs occur uncommonly, they are the main cause of death in the first week of life in these patients. In this paper, we report two cases of Fraser syndrome with laryngeal webs. One of them was a twelve-year-old girl, primarily diagnosed with a supraglottic laryngeal web. In the course of treatment, a second web was also identified at the level of vocal cords, which is to our knowledge the first case of Fraser syndrome with two laryngeal webs in different levels. PMID:26384833

  7. Meigs’ syndrome with elevated CA-125 and HE-4: a case of luteinized fibrothecoma

    PubMed Central

    Danilos, Jaroslaw; Mazurek, Diana; Bednarek, Wieslawa; Kotarski, Jan

    2015-01-01

    Presence of fibrothecoma is not usually accompanied by elevated levels of tumor markers. In recent years, however, there have been isolated reports of fibrothecoma and Meigs’ syndrome, accompanied by an increase in tumor markers. We present a case of fibrothecoma with Meigs’ syndrome and elevated levels of both CA-125 (cancer antigen 125) and HE-4 (human epididymis protein 4). In this paper, we present a case of Meigs’ syndrome associated with an increased CA-125 and HE-4 level due to ovarian fibrothecoma. PMID:26327905

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

    PubMed

    Saxena, Ashok Kumar; Mandhyan, Rajani

    2013-03-01

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

  9. 46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report

    PubMed Central

    2012-01-01

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

  10. Ambras Syndrome: First Reported Case in Bangladesh and its Oral Rehabilitation.

    PubMed

    Khan, M H; Ashrafuzzaman, S M; Taib, A N; Alam, M T; Khan, S H; Goldstein, S K; Rahman, R

    2015-10-01

    People with rare hypertrichosis syndromes became crowd-drawing money-making phenomena in many 19th century sideshow acts. These individuals have been referred to as dog-men, hair-men, and werewolves. In 1993, Baumister et al. described congenital hypertrichosis lanuginose or Ambras syndrome: a distinct form of congenital hypertrichosis characterized by excessive hair growth over the body and face associated with facial and occasional dental anomalies. Much is not known about this syndrome since fewer than 50 cases have been documented worldwide. In this case report, a nine year old girl presented with excessive hair growth throughout her body that was denser along her midline. Furthermore, her face displayed the typical dysmorphic features characteristic of Ambras syndrome: a round tip nose, thickened nasal cartilage, antiverted nares, prominent philtrum with deep groove, and a trapezoid mouth. Oral examination revealed normal oral mucosa with completely missing and unerupted decidious and permanent teeth. Panoramic radiographs confirmed unerupted deciduous teeth. Previous case reports have mentioned the presence of occasional dental anomalies such as retarded first and second dentition and absence of some teeth. However, this is the first reported case of Ambras syndrome presenting with complete anodontia. Prior cytogenetic studies performed on persons with Ambras syndrome have implicated a balanced pericentric inversion of chromosome 8. However, it is likely that dental anomalies are likely a result of a different genetic rearrangement. Further studies are needed to explore the cause of this rare phenotype of Ambras syndrome with complete unerupted dentition. PMID:26620032

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

    PubMed Central

    2012-01-01

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

  12. Proteus Syndrome: Report of a Case with Developmental Glaucoma

    PubMed Central

    Yuksel, Nursen; Sarman, Hakan; Bayramgurler, Dilek

    2014-01-01

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

  13. Proteus syndrome: report of a case with developmental glaucoma.

    PubMed

    Sarman, Zuleyha Sik; Yuksel, Nursen; Sarman, Hakan; Bayramgurler, Dilek

    2014-06-01

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

  14. Basal encephalocele associated with morning glory syndrome: case report.

    PubMed

    Minotto, Ivanete; Abdala, Nitamar; Miachon, Adriana Aparecida Siviero; Spinola e Castro, Angela Maria; Imamura, Paulo; Nogueira, Roberto Gomes

    2007-12-01

    The basal encephaloceles refer to rare entities and they correspond to herniation of brain tissue through defects of skull along the cribiform plate or the sphenoid bone. A rare morning glory syndrome, with characteristic retinal defect has been reported in association with basal encephaloceles. Hypophysis hormonal deficiencies may occur. We accounted for a pituitary dwarfism with delayed diagnosed transsphenoidal encephalocele associated with morning glory syndrome, showing the alterations found in retinography, computed tomography and magnetic resonance imaging. PMID:18094860

  15. Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome.

    PubMed

    Ramappa, Muralidhar; Wilson, M Edward; Rogers, R Curtis; Trivedi, Rupal H

    2014-10-01

    We report a 6-week-old white boy of nonconsanguineous parents who presented with bluish scleral discoloration, thin corneas, and progressive high myopia. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis and prompt measures were taken to manage the condition. Long-term follow-up of children diagnosed with brittle cornea syndrome is important to minimize the risks of corneal rupture and for detecting late-onset systemic conditions. PMID:25266838

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

    PubMed Central

    2014-01-01

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

  17. An uncommon case of abdominal pain: superior mesenteric artery syndrome.

    PubMed

    Felton, Brent M; White, Josh M; Racine, Michael A

    2012-12-01

    Superior mesenteric artery (SMA) syndrome is a rare cause of abdominal pain, nausea and vomiting that may be undiagnosed in patients presenting to the emergency department (ED). We report a 54-year-old male presenting to a community ED with abdominal pain and the subsequent radiographic findings.The patient's computed tomgraphy (CT) of the abdomen and pelvis demonstrates many of the hallmark findings consistent with SMA syndrome, including; compression of the duodenum between the abdominal aorta and superior mesenteric artery resulting in intestinal obstruction, dilation of the left renal vein, and gastric distension. Patients diagnosed with SMA syndrome have a characteristically short distance between the superior mesenteric artery and the aorta (usually 2-8 mm) in contrast to healthy patients (10-34 mm). Our patient's aortomesenteric distance was measured to be approximately 4 mm. Furthermore, the measured angle between the superior mesenteric artery and the aorta is reduced in patients with SMA syndrome from a normal range of 28°-65° to a measurement between 6°-22°. Our patient's aortomesenteric angle was difficult to measure secondary to poor sagittal reconstructions, but appears to be approximately 30°. Following radiographic evidence suggesting SMA syndrome together with our patient's constellation of presenting symptoms, a diagnosis of SMA syndrome was made and the patient was admitted to the general surgery service. However, our patient decided to leave against medical advice owing to improvement of his symptoms following the emptying of two liters of gastric contents via nasogastric tube evacuation. PMID:23358897

  18. Successful Use of Valproate in Kleine-Levin Syndrome: A Case Report and Review of Cases Reported from India

    PubMed Central

    Nebhinani, Naresh; Avasthi, Ajit; Modi, Manish

    2015-01-01

    Kleine-Levin syndrome (KLS) is characterized by recurrent episodes of hypersomnia and other symptoms and it is a really challenging for the physician, since its causes are not yet clear, and available treatment options are not having adequate support. Here, we are reporting a case with successful use of valproate in KLS and also reviewing the cases reported from India.

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

    PubMed

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

    2015-01-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

    2013-01-01

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

  2. Operative Management of OSAS in a Complex Case of Proteus Syndrome

    PubMed Central

    Cantone, Elena; Cavaliere, Michele; Castagna, Giovanni; Marino, Anna; Del Vecchio, Luigi; Iengo, Maurizio

    2015-01-01

    Obstructive sleep apnea syndrome (OSAS) is a common disorder in childhood with high prevalence in syndromic subjects with craniofacial malformations. Proteus Syndrome (PS) is a rare hamartoneoplastic disorder associated with disproportionate and asymmetric overgrowth of body parts and hypertrophy or malformation of lymphatic tissues, such as palatine tonsils. We report a case of a 12-year-old boy diagnosed with Proteus Syndrome (PS) and suffering from OSAS due to asymmetric palatine tonsillar hypertrophy, treated with partial resection of left tonsil. To avoid the risk of a general anesthesia and remove only the obstructive portion of the palatine tonsil bipolar radiofrequency-induced thermotherapy (RFITT) under local anesthesia was performed. Recovery of the obstructive respiratory disease was obtained. To our knowledge, this is the first case reported in the literature of partial tonsillar resection performed in a patient with PS suffering from OSAS under local anesthesia. PMID:26199778

  3. A Case of Horner's Syndrome following Ultrasound-Guided Infraclavicular Brachial Plexus Block

    PubMed Central

    Walid, Trabelsi; Mondher, Belhaj Amor; Mohamed Anis, Lebbi; Mustapha, Ferjani

    2012-01-01

    Horner's syndrome results from paralysis of the ipsilateral sympathetic cervical chain (stellate ganglion) caused by surgery, drugs (mainly high concentrations of local anesthetics), local compression (hematoma or tumor), or inadequate perioperative positioning of the patient. It occurs in 100% of the patients with an interscalene block of the brachial plexus and can also occur in patients with other types of supraclavicular blocks.In this case report, we presented a case of Horner's syndrome after performing an ultrasound-guided infraclavicular brachial plexus block with 15?mL of bupivacaine 0.5%. It appeared 40 minutes after the block with specific triad (ptosis, miosis, and exophtalmia) and quickly disappears within 2 hours and a half without any sequelae. Horner's syndrome may be described as an unpleasant side effect because it has no clinical consequences in itself. For this reason anesthesiologists should be aware of this syndrome, and if it occurs patients should be reassured and monitored closely. PMID:22957277

  4. Oromandibular Limb Hypogenesis Syndrome Type IIB: Case Report of Hypoglossia-Hypodactyly

    PubMed Central

    Meundi, Manasa Anand; Nair, Gopakumar R.; Sreenivasan, Prathima; Raj, A. C.

    2013-01-01

    Hypoglossia-hypodactyly is a rare congenital anomaly affecting the tongue and the limbs. Hall in 1971 classified it under a complex group of disorders called oromandibular limb hypogenesis syndromes. It is an extremely rare condition with around 40 cases reported in the world literature. The cause of the syndrome is unknown. Some type of intrauterine trauma is the most widely accepted etiology. The characteristic features of the syndrome are hypoglossia, limb anomalies of variable degree, and micrognathia of the mandible. This unique case report of hypoglossia-hypodactyly was observed in a patient with normal mandible. In addition, patient also had pulmonary regurgitation. His parents and other siblings were normal. Positive prenatal history of maternal hyperthermia was obtained suspecting it to be the cause of the syndrome. PMID:23431477

  5. Case of Fitz-Hugh-Curtis syndrome in male without presentation of sexually transmitted disease

    PubMed Central

    Yi, Haram; Shim, Chan Sup; Kim, Gyu Won; Kim, Jung Seok; Choi, In Zoo

    2015-01-01

    Fitz-Hugh-Curtis syndrome is a type of perihepatitis that causes liver capsular infection without infecting the hepatic parenchyma or pelvis. Fitz-Hugh-Curtis syndrome is known to occur commonly in women of childbearing age who do not use oral contraceptives and have sexual partners older than 25 years of age. However, the syndrome has been reported to occur rarely in males. The clinical symptoms are right upper quadrant pain and tenderness, and pleuritic right sided chest pain. The clinical presentation is similar in male and female. We experienced a case of Fitz-Hugh-Curtis syndrome in a 60-year-old man with the chief complaint of right upper quadrant abdominal pain. Despite a previous history of gonorrhea, we have also described our experiences of improved symptoms and recovery with allopathic medicines and have thereby reported the present case with a literature review. PMID:26601101

  6. Evaluating the biomechanics of the pediatric foot in Turner syndrome: a case report.

    PubMed

    Morrison, Stewart C; Izod, Alexander; Mahaffey, Ryan

    2012-01-01

    Turner syndrome is a genetic disorder that can present clinically with multiple concurrent comorbidities. This case report describes a 12-year-old girl with Turner syndrome who was referred for podiatric medical assessment and explores the application of optoelectronic stereophotogrammetry in the biomechanical assessment of the foot and lower limb. A four-segment kinematic foot model using 14-mm reflective markers was applied to the foot and lower limb of the patient to track motion at the tibia, rearfoot, forefoot, and hallux. Kinematic results presented in this case study illustrate evidence of excessive foot pronation throughout the stance phase of gait. Whether excessive pronation is a general characteristic of foot function in Turner syndrome remains to be confirmed, but the findings presented suggest that a comprehensive evaluation of foot biomechanics in patients with Turner syndrome may be warranted. PMID:22659771

  7. A confirmed case of toxic shock syndrome associated with the use of a menstrual cup

    PubMed Central

    Mitchell, Michael A; Bisch, Steve; Arntfield, Shannon; Hosseini-Moghaddam, Seyed M

    2015-01-01

    Menstrual cups have been reported to be an acceptable substitute for tampons. These flexible cups have also been reported to provide a sustainable solution to menstrual management, with modest cost savings and no significant health risk. The present article documents the first case of toxic shock syndrome associated with the use of a menstrual cup in a woman 37 years of age, using a menstrual cup for the first time. Toxic shock syndrome and the literature on menstrual cups is reviewed and a possible mechanism for the development of toxic shock syndrome in the patient is described. PMID:26361491

  8. Superior vena cava syndrome due to metastasis from urothelial cancer: A case report and literature review.

    PubMed

    Wakeda, Hironobu; Hamasuna, Ryoichi; Asada, Yujiro; Kamoto, Toshiyuki

    2013-10-01

    Superior vena cava (SVC) syndrome is caused by compression or obstruction of the SVC. We report here in a case of SVC syndrome due to lymph node metastasis from urothelial cancer to the mediastinum and lung. The origin of metastasis was determined by computed tomography (CT)-guided biopsy of metastases. After radiotherapy to the mediastinum with glucocorticoid failed, anticancer pharmacotherapy including paclitaxel, gemicitabine, and cisplatin proved effective and SVC syndrome resolved. But patient died from cerebral bleeding from newer brain metastases 10 months later. PMID:24311914

  9. Superior vena cava syndrome due to metastasis from urothelial cancer: A case report and literature review

    PubMed Central

    Wakeda, Hironobu; Hamasuna, Ryoichi; Asada, Yujiro; Kamoto, Toshiyuki

    2013-01-01

    Superior vena cava (SVC) syndrome is caused by compression or obstruction of the SVC. We report here in a case of SVC syndrome due to lymph node metastasis from urothelial cancer to the mediastinum and lung. The origin of metastasis was determined by computed tomography (CT)-guided biopsy of metastases. After radiotherapy to the mediastinum with glucocorticoid failed, anticancer pharmacotherapy including paclitaxel, gemicitabine, and cisplatin proved effective and SVC syndrome resolved. But patient died from cerebral bleeding from newer brain metastases 10 months later. PMID:24311914

  10. Diagnosis of megacystis-microcolon intestinal hypoperistalsis syndrome with aplastic desmosis in adulthood: a case report.

    PubMed

    Trebicka, Jonel; Biecker, Erwin; Gruenhage, Frank; Stolte, Manfred; Meier-Ruge, William A; Sauerbruch, Tilman; Lammert, Frank

    2008-04-01

    Megacystis-microcolon intestinal hypoperistalsis syndrome (MMHIS or Berdon syndrome) is an autosomal-recessive disorder characterized by chronic intestinal obstruction. Although the disease is often diagnosed in female infants we describe a man with late diagnosis in adulthood. Our patient presented soon after birth with intestinal obstruction and developed short bowel syndrome after multiple intestinal resections. Of note, the connective tissue net within the muscle layers of the intestinal wall was absent ('aplastic desmosis'). This case illustrates the variable clinical features of MMHIS and aplastic desmosis, which might delay the correct diagnosis of a severe disorder. PMID:18334881

  11. A case of mild ocular manifestations in pregnancy induced hypertension with HELLP syndrome.

    PubMed

    Wenzel, M; Lehnen, H

    1994-06-01

    There is a correlation between the degree of retinal changes and the severity of pregnancy induced hypertension. This correlation does not hold true for a subgroup of these patients with hemolysis, elevated liver enzymes and a low platelet count. This array of findings has been termed HELLP syndrome by Weinstein (1982) and may be present although the clinical picture of severe preeclampsia is absent. Pregnancies complicated by HELLP syndrome are associated with poor maternal and fetal outcome. We report a case in which minor ocular signs led to the diagnosis of a HELLP syndrome. Ophthalmologists should be aware of this rare complication of pregnancy. PMID:7976276

  12. [Acquired hemophagocytic syndrome treated with HLH 94-04 chemotherapy protocol: Report of four cases].

    PubMed

    Beffermann C, Nicole; Pilcante S, Javier; Ocqueteau T, Mauricio; Sarmiento M, Mauricio

    2015-09-01

    Hemophagocytic syndrome is a severe condition of excessive immune activation that has a high mortality in the absence of treatment. The syndrome is classified as primary if associated with congenital or hereditary problems, or secondary/acquired if associated with infectious, autoimmune or oncology diseases. We report four adult cases of the syndrome, one with viral, two with autoimmune and one with idiopathic causes who were successfully treated with HLH 94-04 chemotherapy protocol. Our experience shows that a high index of suspicion, early diagnosis and an opportune therapy are essential in the treatment of this disease. PMID:26530200

  13. Mirror syndrome associated with heart failure in a pregnant woman: a case report

    PubMed Central

    Li, Han; Gu, Wei-Rong

    2015-01-01

    Mirror syndrome is also known as Ballantyne syndrome, maternal hydrops, triple edema and pseudotoxemia. The disease can be difficult to diagnose, is related to pregnancy and can grievously endanger the health of both the mother and fetus. The pathogenesis of the disease has not been fully elucidated, and this disease may be confused with preeclampsia, even though distinguishing features can be identified. In this report case, we describe a pregnant woman who suffered from mirror syndrome associated with heart failure. After delivery, the heart failure symptoms also disappeared. PMID:26629125

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

    PubMed

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

    2015-05-01

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

  15. Carpal tunnel syndrome in patient with hemihypertrophy: case report.

    PubMed

    Shimoe, Takashi; Taniguchi, Yasunori; Yoshida, Munehito

    2013-01-01

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

  16. Pericarditis Epistenocardica or Dressler Syndrome? An Autopsy Case.

    PubMed

    Feola, Alessandro; De Stefano, Noè; Della Pietra, Bruno

    2015-01-01

    Postinfarction pericarditis can be classified as "early," referred to as pericarditis epistenocardica, or "delayed," referred to as Dressler syndrome. The incidence of postinfarction pericarditis has decreased to <5% since the introduction of reperfusion therapies and limitation of infarct size. We report on a 57-year-old man who suffered sudden cardiac death as a result of acute myocardial infarction. Autopsy revealed an area of previous infarction and fibrinous pericarditis related to the previous infarction, leading to a diagnosis of Dressler syndrome. PMID:26240567

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

    PubMed

    Bartosik-Psujek, H; Stelmasiak, Z

    2001-01-01

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

  18. Pericarditis Epistenocardica or Dressler Syndrome? An Autopsy Case

    PubMed Central

    Feola, Alessandro; De Stefano, Noè; Della Pietra, Bruno

    2015-01-01

    Postinfarction pericarditis can be classified as “early,” referred to as pericarditis epistenocardica, or “delayed,” referred to as Dressler syndrome. The incidence of postinfarction pericarditis has decreased to <5% since the introduction of reperfusion therapies and limitation of infarct size. We report on a 57-year-old man who suffered sudden cardiac death as a result of acute myocardial infarction. Autopsy revealed an area of previous infarction and fibrinous pericarditis related to the previous infarction, leading to a diagnosis of Dressler syndrome. PMID:26240567

  19. Laugier–Hunziker syndrome: a report of three cases and literature review

    PubMed Central

    Wang, Wen-Mei; Wang, Xiang; Duan, Ning; Jiang, Hong-Liu; Huang, Xiao-Feng

    2012-01-01

    Laugier–Hunziker syndrome (LHS) is an acquired pigmentary condition affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. There is neither malignant predisposition nor underlying systemic abnormality associated with LHS. Herein, we present three uncommon cases of LHS with possibly new feature of nail pigmentation, which were diagnosed during the past 2 years. We also review the clinical and histological findings, differential diagnosis, and treatment of the syndrome in published literature. PMID:23174847

  20. An Atypical Case of POEMS Syndrome with an Osteolytic Bone Lesion

    PubMed Central

    Rahul, Kumar; Chandrashekhara, SH; Usha, Thingujam; Singh, Anuradha

    2015-01-01

    POEMS syndrome is a rare multisystem disorder with an underlying plasma cell dyscrasia associated with Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy and Skin changes. Usually it is associated with sclerotic bone lesions. It usually manifests in 5th–6th decade of life with a mean survival period of eight years. We report an unusual case of a 28-year-old male diagnosed with POEMS syndrome and had a lytic bone lesion the in sternum. PMID:26266203

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

    PubMed

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

    2002-07-01

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

  2. [Nephrotic syndrome as first presentation of malignant thymoma: description of a clinical case].

    PubMed

    Federico, Antonio; Merletti, Maria Giuseppina; Lisi, Eliana; De Finis, Francesco; Trivelli, Giovanni; Sopranzi, Franco

    2010-01-01

    Thymoma is a rare neoplasm originating from thymic epithelial cells. It is associated with paraneoplastic syndromes and a severe form of immunodeficiency. Kidney involvement is rare. We report the case of a 66-year-old woman affected by nephrotic syndrome and kidney failure. A diagnosis of thymoma was made after several months of hemodialysis. Numerous comorbidities made specific treatment impossible and the patient died one year after the diagnosis of thymoma. PMID:21132651

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

    PubMed Central

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

    2015-01-01

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

  4. [A case of overlap syndrome: autoimmune idiopathic hepatitis/pulmonary idiopathic hypertension].

    PubMed

    Bertino, G; Ardiri, A M; Boemi, P M; Ierna, D; Pulvirenti, D; Neri, S

    2007-01-01

    In medical practice we frequently encounter autoimmune syndromes, called "overlap-syndromes," which are of difficult nosographic classification because of the presence of sero-immunologic and clinical features common to various diseases having an autoimmune pathogenesis. Some of these syndromes have already been extensively described in scientific literature such as, for example, the presence of clinical and biohumoral alterations with hepatic and extrahepatic involvement, in the course of viral and autoimmune chronic hepatitis. The described clinical case can be classified as a new "overlap syndrome": Type 1 autoimmune hepatitis (AIH)/Primary pulmonary hypertension (PPH). Although the presence of pulmonary hypertension has been extensively described in the course of various connective tissue diseases (S.L.E., Mixed Connective Tissue Disease, Scleroderma, Hashimoto's Thyroiditis, Sjögren's Syndrome), in recent scientific literature, the association is quite rare. The interest in the described clinical case lies both in the possibility to classify it in the context of a more complex "overlap syndrome" AIH/PPH and in the correlated diagnostic and therapeutic implications. Therefore, in cases of primary pulmonary hypertension, a thorough immunological and hepatic functionality study is always recommended in order to ensure an early diagnosis and a prompt AIH treatment, thus warding off the risk of a rapid progression in cirrhosis. PMID:17953282

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

    ERIC Educational Resources Information Center

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

    2006-01-01

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

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

    ERIC Educational Resources Information Center

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

    1973-01-01

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

  7. Seckel's syndrome: presentation of one case associated with Legg-Calvé-Perthes disease.

    PubMed

    Rubbini, L; Preti, P; Sudanese, A; Brillante, C

    1991-01-01

    The authors present the case of one patient affected with Seckel's syndrome which came to their observation as a result of pain in the hip with limping, diagnosed after Legg-Calvé-Perthes disease. There seems to be an accidental relationship between the two diseases, although Legg-Calvé-Perthes disease is frequently described in all cases of endocrinous dwarfism. PMID:1756680

  8. A Florid Case of Iatrogenic Cushing's Syndrome Induced by Topical Steroid with Osteoporosis and Hypogonadism.

    PubMed

    Sahana, Pranab Kumar; Sarma, Nilendu; Sengupta, Nilanjan; Somani, Prashant Subhash

    2015-01-01

    Here we report a case of a young male who developed full blown iatrogenic Cushing's syndrome after use of superpotent clobetasol propionate cream 0.05% for long duration to suppress psoriatic skin lesions. He also developed osteoporosis and hypogonadism. This case demonstrates that injudicious use of topical steroids can have disastrous consequences. PMID:26288430

  9. A Florid Case of Iatrogenic Cushing's Syndrome Induced by Topical Steroid with Osteoporosis and Hypogonadism

    PubMed Central

    Sahana, Pranab Kumar; Sarma, Nilendu; Sengupta, Nilanjan; Somani, Prashant Subhash

    2015-01-01

    Here we report a case of a young male who developed full blown iatrogenic Cushing's syndrome after use of superpotent clobetasol propionate cream 0.05% for long duration to suppress psoriatic skin lesions. He also developed osteoporosis and hypogonadism. This case demonstrates that injudicious use of topical steroids can have disastrous consequences. PMID:26288430

  10. THE NEUROLEPTIC MALIGNANT SYNDROME : REPORT OF THREE CASES

    PubMed Central

    Sharma, R.C.; Thakur, S.; Sharma, Vijay

    1996-01-01

    Three patients, one male and two females who developed neuroleptic malignant syndrome following exposure to depot and oral neuroleptic are presented. The patients satisfied Levenson?s criteria for diagnosis. Bromocriptine and Electro Convulsive Therapy were found effective whereas trihexyphenidyl proved unsatisfactory in the treatment. All the patients recovered completely without complications. PMID:21584154

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

    ERIC Educational Resources Information Center

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

    2008-01-01

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

  12. The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.

    PubMed

    Pappas, John G

    2015-04-01

    Beckwith-Wiedemann syndrome (BWS) is the most common genetic overgrowth syndrome, and it is frequently clinically recognizable because of characteristic features. These features include macrosomia, hemihypertrophy, macroglossia, facial nevus flammeus, earlobe creases and pits, omphalocele, and organomegaly. The most common molecular cause is hypomethylation of the maternal imprinting control region 2 (ICR2) in 11p15. Other molecular causes include hypermethylation of the maternal ICR1 in 11p15, mutations in CDKN1C, mosaic uniparental disomy 11p15, and chromosomal abnormalities involving 11p15. Some of these abnormalities are testable, and DNA methylation tests of 11p15 confirm about 60% of cases with BWS. The main management issues in pediatrics are hypoglycemia at birth, macroglossia, and surveillance for embryonal tumors, especially Wilms and hepatoblastoma. PMID:25861997

  13. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report.

    PubMed

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-01-01

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous injury and subsequently these were confirmed on surgery.Although it is a rare syndrome, early diagnosis and treatment prevents permanent neurological deficits and improve patient's quality of life. PMID:20076781

  14. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report

    PubMed Central

    2009-01-01

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous injury and subsequently these were confirmed on surgery. Although it is a rare syndrome, early diagnosis and treatment prevents permanent neurological deficits and improve patient's quality of life. PMID:20076781

  15. The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.

    PubMed

    Ergin, Hacer; Semerci, C Nur; Karaku?, Y Tu?rul; Scheffer, Hans; Ergin, Seniz; Koltuksuz, U?ur; Meijer, Rowdy; Satiro?lu-Tufan, N Lale

    2010-01-01

    The p63 gene is a transcription factor and a member of the p53 family. Heterozygote mutation of the p63 gene is suggested in a number of human syndromes including limb development and/or ectodermal dysplasia. The EEC syndrome, consisting of ectrodactyly (E), ectodermal dysplasia (E) and cleft lip (C) with or without cleft palate, is the prototype of these syndromes with the presence of heterozygote mutation in the p63 gene in most of the patients. Nonsyndromic split hand/foot malformation (SHFM) is one of the EEC-like syndromes, and the p63 gene mutation was reported in only a few patients. Five different loci have been mapped to date, but the etiology is yet to be explained in the rest of the patients. Here, we report two cases. Case 1, diagnosed with EEC syndrome, had type 2 urogenital sinus and a new heterozygous mutation of 934G>A (D312N) in exon 8 of the p63 gene. Case 2 was diagnosed as SHFM with no mutation in the p63 gene. Genotype and phenotype correlation of these two cases among the reported patients is discussed in this report. PMID:21434540

  16. Posterior reversible encephalopathy syndrome after depletive lumbar puncture: a case report

    PubMed Central

    2014-01-01

    Introduction Posterior reversible encephalopathy syndrome is a rare entity. Its pathophysiology is still poorly understood. Case presentation We report the case of a 69-year-old White European woman who presented complete and proportional right hemiplegia, confusion, deviation of her head and eyes to the right, cortical blindness, and generalized tonic-clonic seizure 12 hours following a depletive lumbar puncture. Emergency cerebral magnetic resonance imaging showed bioccipital and left-side basal ganglia hyperintensities in the fluid attenuated inversion recovery and the diffusion-weighted images suggesting a radiological diagnosis of posterior reversible encephalopathy syndrome. Conclusions The diagnosis is established on clinical and radiological signs. This is the first report of this kind in the literature. We present a case of posterior reversible encephalopathy syndrome after depletive lumbar puncture and we discuss the pathophysiology. PMID:25063365

  17. Legius syndrome: case report and review of literature.

    PubMed

    Benelli, Elisa; Bruno, Irene; Belcaro, Chiara; Ventura, Alessandro; Berti, Irene

    2015-01-01

    A 8-month-old child was referred to our Dermatologic Unit for suspected Neurofibromatosis type 1 (NF 1), because of the appearance, since few days after birth, of numerous café-au-lait spots (seven larger than 5 mm); no other sign evocative of NF 1 was found. Her family history was remarkable for the presence of multiple café-au-lait spots in the mother, the grandfather and two aunts. The family had been already examined for NF 1, but no sign evocative of the disease was found. We then suspected Legius syndrome, a dominant disease characterized by a mild neurofibromatosis 1 phenotype. The diagnosis was confirmed by the finding of a mutation in SPRED1 gene, a feedback regulator of RAS/MAPK signaling. Here, we discuss the differential diagnosis of cafè-au-lait spots and we briefly review the existing literature about Legius syndrome. PMID:25883013

  18. Slit ventricle syndrome: a case report of intermittent intracranial hypertension.

    PubMed

    Agarwal, Nitin; Vernier, Eric; Ravenscroft, Sheri; Schwartz, Lauren; Oleske, James; Ming, Xue

    2013-06-01

    Slit ventricle syndrome is a rare condition whereby brain compliance is reduced and can be associated with intermittent intracranial hypertension. A 19-year-old male with a ventriculoperitoneal shunt for congenital hydrocephalus presented with a 1-day history of headache and drowsiness-symptoms from which he suffered in many recurrent episodes over the past 5 years. The improvement of headaches without surgical intervention led to the diagnosis of migraine. During this hospitalization, episodes of intermittent intracranial hypertension were documented along with the remission and relapse of the symptoms. While the patient's intracranial pressure was within normal range in over 90% of his monitoring period, which postponed shunting, replacement of his ventriculoperitoneal shut eventually resolved his symptoms. Slit ventricle syndrome with reduced ventricular compliances should be considered in patients with clinical evidence of intermittent intracranial hypertension and small ventricular size. The authors advocate shunt replacement as an appropriate treatment for this condition. PMID:22805245

  19. Case reports and review of Postural Orthostatic Tachycardia syndrome (POTS).

    PubMed

    Carothers, Becky; Schmidt, Lori; Puri, Vinay

    2003-12-01

    Postural Orthostatic Tachycardia Syndrome (POTS) is a type of orthostatic intolerance that is characterized by excessive tachycardia and decreased cerebral blood flow in the upright position. This can result in significant symptoms of dizziness and light-headedness that can eventually lead to syncope. In this review, we describe two patients with POTS that varied in their degree of symptoms and treatment. One patient was able to be treated as an outpatient, while the other required hospitalization and extensive medical therapy. We would like to emphasize with this review that POTS is probably more common than it is diagnosed and is often confused with other conditions, such as chronic fatigue syndrome or functional syncope. It is important to make the correct diagnosis in order to allow appropriate treatment and to improve the quality of life for these patients. PMID:14689686

  20. Guillain–Barré syndrome presenting with Raynaud’s phenomenon: a case report

    PubMed Central

    2014-01-01

    Background Guillain–Barré syndrome is an immune mediated acute inflammatory polyradiculo-neuropathy involving the peripheral nervous system. Commonest presentation is acute or subacute flaccid ascending paralysis of limbs. Rarely autonomic dysfunction can be the presenting feature of Guillain–Barré syndrome. Raynaud’s phenomenon, although had been described in relation to many disease conditions, has not been described in association with Guillain–Barré syndrome up to date. Case presentation We report the first case of Guillain–Barré syndrome presenting with Raynaud’s phenomenon in a 21-year-old previously well boy. New onset Raynaud’s phenomenon was experienced followed by acute ascending flaccid paralysis of lower limbs and upper limbs together with palpitations and postural giddiness. Nerve conduction studies showed acute inflammatory demyelinating polyneuropathy with cerebrospinal fluid cyto-protein dissociation. He was treated with intravenous immunoglobulin and showed a satisfactory clinical recovery of muscle weakness, Raynaud’s phenomenon and autonomic disturbances. Conclusion Guillain–Barré syndrome presenting with Raynaud’s phenomenon is not being reported in literature previously. Although the underlying mechanism is not fully understood, Raynaud’s phenomenon should prompt the physician to consider Guillain–Barré syndrome with a complimentary clinical picture. PMID:25182165

  1. Chanarin Dorfman syndrome: a case report with novel nonsense mutation.

    PubMed

    Gupta, Neerja; Gothwal, Sunil; Satpathy, Amit Kumar; Missaglia, S; Tavian, D; Das, Prasenjit; Timila, Dipsal; Kabra, Madhulika

    2016-01-10

    Chanarin Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. It is inherited as an autosomal recessive manner. It is characterized with congenital ichthyosiform erythroderma and involvement of liver, muscle, and central nervous system. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma leads to the diagnosis. We report a novel ABHD5 truncating variant in a twenty nine month old female child, who presented with icthyosiform erythroderma. PMID:26353074

  2. Refeeding syndrome in Southeastern Taiwan: Our experience with 11 cases

    PubMed Central

    Chen, Li-Ju; Chen, Huan-Lin; Bair, Ming-Jong; Wu, Chia-Hsien; Lin, I-Tsung; Lee, Yuan-Kai; Chu, Cheng-Hsin

    2014-01-01

    AIM: To present our experience with refeeding syndrome in southeastern Taiwan. METHODS: We conducted a retrospective study during a 2-year period at the Mackay Memorial Hospital, Taitung Branch. We enrolled patients with very little or no nutrition intake for more than 10 d, a high risk group of refeeding syndrome, including those suffering from alcohol abuse, cancerous cachexia, chronic malnutrition, and prolonged starvation. RESULTS: A total of 11 patients (7 males, 4 females) with nasogastric feeding were included as having refeeding syndrome. Most of them had the symptoms of diarrhea, lethargy, and leg edema. The initial nutritional supplement was found to be relatively high in calories (1355.1 ± 296.2 kcal/d), high in protein (47.3 ± 10.4 gm/d), low in vitamin B1 (2.0 ± 0.5 mg/d), low in potassium (1260.4 ± 297.7 mg/d), and low in phosphorus (660.1 ± 151.8 mg/d). Furthermore, hypophosphatemia (2.4 ± 0.9 mg/dL) was noted during follow-up. Based on the suggestions of a dietician and a gastroenterologist, the clinical disorders of diarrhea, malaise and leg edema were significantly improved. The level of phosphate was also increased (3.3 ± 0.6 mg/dL). CONCLUSION: Refeeding syndrome is an overlooked and risky disorder that has some potentially fatal complications. Nasogastric feeding in nursing homes is an important risk factor for patients and deserves greater attention based on the initial results of this study. PMID:25132771

  3. LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.

    PubMed

    Ramos-Geldres, T T; Dávila-Seijo, P; Duat-Rodríguez, A; Noguera-Morel, L; Ezquieta-Zubicaray, B; Rosón-López, E; Hernández-Martín, A; Torrelo-Fernández, A

    2015-05-01

    LEOPARD syndrome is an autosomal dominant disease caused by germline mutations in the RAS-MAPK (mitogen-activated protein kinase) pathway. LEOPARD is an acronym for the main manifestations of the syndrome, namely, multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and sensorineural Deafness. None of these characteristic features, however, are pathognomonic of LEOPARD syndrome, and since they are highly variable, they are often not present at the time of diagnosis. We describe 2 cases of LEOPARD syndrome without hearing loss or pulmonary stenosis in which diagnosis was confirmed by identification of a mutation in the PTPN11 gene. Regular monitoring is important for the early detection of complications, as these can occur at any time during the course of disease. PMID:25544017

  4. Chondrosarcoma of the mandibular condyle in a patient with Werner syndrome: a case report.

    PubMed

    Goutzanis, Labros; Kalfarentzos, Evagelos F; Petsinis, Vassilis; Papadogeorgakis, Nick

    2013-10-01

    Werner syndrome, also called progeria of the adult and pangeria is a rare autosomal recessive disorder that affects connective tissue throughout the body. It is associated with premature ageing and an increased risk of cancer and other diseases. The mean survival for patients with Werner syndrome is 47 years. Death usually occurs when patients are aged 30-65 years because of atherosclerosis or malignant tumours. The purpose of this paper is to present a patient with Werner syndrome exhibiting a chondrosarcoma of the left temporomandibular joint and ramus. To the best of our knowledge this is the first case, of a Werner syndrome patient with an associated head and neck chondrosarcoma being reported. The diagnostic procedure followed and management of the patient are outlined in the paper as well. PMID:23357132

  5. A case of 3p deletion syndrome associated with cerebellar hemangioblastoma.

    PubMed

    Suzuki-Muromoto, Sato; Hino-Fukuyo, Naomi; Haginoya, Kazuhiro; Kikuchi, Atsuo; Sato, Hiroki; Sato, Yuko; Nakayama, Tojo; Kubota, Yuki; Kakisaka, Yosuke; Uematsu, Mitsugu; Kumabe, Toshihiro; Md, Shigeo Kure

    2016-02-01

    We described clinical course of a 24-year-old woman with 3p deletion syndrome associated with cerebellar hemangioblastoma at the age of 16years old. She presented dysmorphic facial features, growth retardation and severe psychomotor retardation associated with 3p deletion syndrome. We identified de novo 3p deletion encompassing p25 by using array-based comparative genomic hybridization, where causative gene of von Hippel-Lindau (VHL) disease located. Surgical therapy for cerebellar hemangioblastoma was performed, and histological examination was consistent in cerebellar hemangioblastoma. She showed no other tumors associated VHL disease till 24years old. This is the first case report of a patient with 3p deletion syndrome whose cerebellar hemangioblastoma may be associated with VHL disease. Repeat imaging studies were recommended for the patients with 3p deletion syndrome. PMID:26365017

  6. Proteus syndrome: Clinical diagnosis of a series of cases

    PubMed Central

    Alves, Cresio; Acosta, Angelina X.; Toralles, Maria Betânia P.

    2013-01-01

    Objectives: This paper describes the clinical diagnosis of Proteus syndrome (PS) in children referred for evaluation of asymmetric disproportionate overgrowth. Materials and Methods: Retrospective, descriptive, cross-sectional study conducted from January 1998 to December 2010. Results: During the study period, 2011 new patients were evaluated. Thirteen (0.65%) patients presented features suggestive of PS. These patients were formally evaluated based on the revised diagnostic criteria proposed by Biesecker. The mean age was 6.92 ± 5.1 years. Ten patients (76.9%) were females. All subjects had asymmetric disproportionate overgrowth. Other dysmorphic features were as follows: macrodactily (84.6%); linear epidermal nevus (41.6%); hemangioma (30.7%); and lipoma (23%). Six patients fulfilled the diagnostic criteria for PS. Conclusions: The diagnostic rate of only 46.1% of patients with PS confirms the diagnostic difficulties and the need for continuous monitoring and periodic review of these patients since the clinical manifestations of this syndrome become more evident with aging. Molecular tests may help the differential diagnosis of Proteus syndrome when they became commercially available. PMID:24381883

  7. Mozart's movements and behaviour: a case of Tourette's syndrome?

    PubMed Central

    Ashoori, Aidin; Jankovic, Joseph

    2007-01-01

    In this review, we intend to explore the often asked question: “Did Mozart have Tourette's syndrome?” Although there are numerous reports attributing Mozart's peculiar personality and behaviour to a spectrum of neurobehavioural disorders such as Tourette's syndrome, autistic disorder, Asperger's syndrome, attention deficit hyperactivity disorder, obsessive–compulsive disorder and paediatric autoimmune neuropsychiatric disorders associated with streptococcal infection, the evidence for any of these disorders is lacking. Whether Mozart's behaviour was nothing more than a reflection of his unique personality or a more complex neurological disorder, aggravated later in life by enormous demands by his father and society, his behaviour has been the subject of many biographies. It will also remain unknown to what extent his accomplishments and failures were shaped by his childhood experiences, pressured lifestyle, and his innate genius and extraordinary talent. Lessons from his life may have important implications for other gifted individuals and savants whose special attributes may lead them to succeed or, on the other hand, suppress their emotional growth and make them more vulnerable to stress and failure. PMID:17940168

  8. Intercostal variant of lumbar hernia in lumbocostovertebral syndrome: our experience with 6 cases.

    PubMed

    Sengar, Mamta; Manchanda, Vivek; Mohta, Anup; Jain, Vishesh; Das, Swarup

    2011-10-01

    Lumbocostovertebral syndrome (LCVS) is a rare type of congenital lumbar hernia. Its features include lumbar hernia associated with genitourinary, vertebral, and rib anomalies. Less than 25 cases have been reported to date. We describe the clinical manifestations and associated anomalies in 6 cases of LCVS managed by us. The patients with suspected LCVS syndrome should be evaluated by detailed clinical history, examination, conventional radiography, magnetic resonance imaging spine, ultrasound abdomen, and echocardiography. The defect can be repaired using local tissues in infancy. There is a need for long-term follow-up for possible late recurrence and scoliosis. PMID:22008337

  9. Herlyn–Werner–Wunderlich syndrome: An “early” onset case report and review of Literature

    PubMed Central

    Angotti, R.; Molinaro, F.; Bulotta, A.L.; Bindi, E.; Cerchia, E.; Sica, M.; Messina, M.

    2015-01-01

    Herlyn–Werner–Wunderlich syndrome (HWWS) is a rare congenital mullerian anomaly consisting of uterus didelphys, hemivaginal septum, and unilateral renal agenesis [1,2]. Most authors reported cases of Herlyn–Werner–Wunderlich syndrome with prepuberal or postpuberal onset with cyclical abdominal pain and a vaginal mass (3–8). Only six cases are reported in Literature with early onset of this syndrome under 5 years (9–14). Our case is about 3 years old girl, with all the features of this syndrome who came to our attention for lower abdominal mass. The aim of this article is to share our experience and focus the attention on the importance of high level of suspicion of HWWS in neonatal period to early diagnosis and treatment. The possible early presentation of this syndrome should be suspected in all neonates (females) with renal agenesia confirmed postnatally or with prenatal diagnosis. It is common, in fact, an error of evaluation with planning of removal of mass, that can damage patients in term of chance for a successful reproductive outcome. For all these reasons, our team consider HWWS as differential diagnosis in newborn with prenatal ultrasonography of a cystic mass behind the urinary bladder in the absence of a kidney and plan a pelvic ultrasound (with aim to identify an uterus, normal or dydhelfus, and presence or absence of pelvic mass), an examination under anesthesia and cystoscopy and vaginoscopy, if it is necessary. A high level of suspicion, indeed, is the key to early diagnosis. PMID:25932973

  10. Nutrition in clinical practice-the refeeding syndrome: illustrative cases and guidelines for prevention and treatment.

    PubMed

    Stanga, Z; Brunner, A; Leuenberger, M; Grimble, R F; Shenkin, A; Allison, S P; Lobo, D N

    2008-06-01

    The refeeding syndrome is a potentially lethal complication of refeeding in patients who are severely malnourished from whatever cause. Too rapid refeeding, particularly with carbohydrate may precipitate a number of metabolic and pathophysiological complications, which may adversely affect the cardiac, respiratory, haematological, hepatic and neuromuscular systems leading to clinical complications and even death. We aimed to review the development of the refeeding syndrome in a variety of situations and, from this and the literature, devise guidelines to prevent and treat the condition. We report seven cases illustrating different aspects of the refeeding syndrome and the measures used to treat it. The specific complications encountered, their physiological mechanisms, identification of patients at risk, and prevention and treatment are discussed. Each case developed one or more of the features of the refeeding syndrome including deficiencies and low plasma levels of potassium, phosphate, magnesium and thiamine combined with salt and water retention. These responded to specific interventions. In most cases, these abnormalities could have been anticipated and prevented. The main features of the refeeding syndrome are described with a protocol to anticipate, prevent and treat the condition in adults. PMID:17700652

  11. Melnick-Needles syndrome associated with growth hormone deficiency: a case report.

    PubMed

    Ak?n, Leyla; Adal, Erdal; Ak?n, Mustafa Ali; Kurto?lu, Selim

    2009-01-01

    Melnick-Needles syndrome is an X-linked dominant bone dysplasia characterized by a typical facies (exophthalmos, full cheeks, micrognathia, and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of the lower extremities, irregular constriction in the ribs, and sclerosis of base of the skull. The phenotype of affected individuals varies, even within families. About fifty cases of Melnick-Needles syndrome have been reported to date. Short stature is not a well-known component of the disorder. There is only one reported case of Melnick-Needles syndrome associated with growth hormone deficiency. A six-year-old girl who presented to our clinic with short stature was diagnosed as Melnick-Needles syndrome based upon characteristic clinical and radiological findings. Two different stimulation tests demonstrated growth hormone deficiency. Presenting this second case of Melnick-Needles syndrome associated with growth hormone deficiency, we suggest that this association may be coincidental, but that it may also be a consequence of craniofacial abnormalities or an independent component of the disorder. PMID:21274303

  12. A severe and rapidly progressive case of proteus syndrome in a neonate who presented with unilateral hydrocephalus apart from other typical features of the proteus syndrome.

    PubMed

    Kumar, Rakesh; Bhagat, Puja

    2012-07-01

    Proteus syndrome is a rare hamartomatous disorder affecting multiple tissues and manifesting itself in a variety of ways. The understanding of the complete spectrum of clinical features, the natural clinical course of the disease and the proper management of such a rare but highly variable syndrome depend heavily on experiences gathered by previously reported cases. We present an unusually severely affected and rapidly progressive case of proteus syndrome in a neonate who presented with craniofacial hemihypertrophy, subcutaneous masses, capillary hemangioma, varicose veins, epidermal nevi and macrodactyly. The cranial ultrasonogram revealed unilateral hydrocephalus with partial obstruction of the foramen of monro. PMID:24027714

  13. Acute coronary syndrome: a rare case of multiple endocrine neoplasia syndromes with pheochromocytoma and medullary thyroid carcinoma

    PubMed Central

    Maloberti, Alessadro; Meani, Paolo; Pirola, Roberto; Varrenti, Marisa; Boniardi, Marco; De Biase, Anna Maria; Vallerio, Paola; Bonacina, Edgardo; Mancia, Giuseppe; Loli, Paola; Giannattasio, Cristina

    2015-01-01

    Pheochromocytoma is a tumor arising from neuroectodermal chromaffin tissues in the adrenal gland or extra-adrenal paraganglia (paragangliomas). The prevalence of the tumor is 0.1%-0.6% in the hypertensive population, of which 10%-20% are malignant. Pheochromocytoma produces, stores, and secretes catecholamines, as well as leads to hypertensive crisis, arrhythmia, angina, and acute myocardial infarction without coronary artery diseases. We report a case of acute coronary syndrome (ACS) with a final diagnosis of multiple endocrine neoplasia with pheochromocytoma and medullary thyroid carcinoma (MTC). PMID:26487970

  14. 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

  15. A novel form of ciliopathy underlies hyperphagia and obesity in Ankrd26 knockout mice.

    PubMed

    Acs, Peter; Bauer, Peter O; Mayer, Balazs; Bera, Tapan; Macallister, Rhonda; Mezey, Eva; Pastan, Ira

    2015-05-01

    Human ciliopathies are genetic disorders caused by mutations in genes responsible for the formation and function of primary cilia. Some are associated with hyperphagia and obesity (e.g., Bardet-Biedl Syndrome, Alström Syndrome), but the mechanisms underlying these problems are not fully understood. The human gene ANKRD26 is located on 10p12, a locus that is associated with some forms of hereditary obesity. Previously, we reported that disruption of this gene causes hyperphagia, obesity and gigantism in mice. In the present study, we looked for the mechanisms that induce hyperphagia in the Ankrd26-/- mice and found defects in primary cilia in regions of the central nervous system that control appetite and energy homeostasis. PMID:24633808

  16. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)

    PubMed Central

    2014-01-01

    This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel–Joubert, short rib, Bardet–Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions. PMID:25313840

  17. 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

  18. Cystic Fibrosis and Beckwith-Wiedemann Syndrome: A Case Report

    PubMed Central

    Aguiar, Claudia; Correia-Costa, Liane; Eden, Paulo; Guedes-Vaz, Luisa

    2015-01-01

    Cystic fibrosis (CF) is a hereditary disease of exocrine gland function that involves multiple systems but chiefly results in chronic respiratory infections, the major cause of death, pancreatic enzyme deficiency and severe malnutrition, mostly in untreated patients. The association between CF and other inherited diseases or congenital anomalies is rare. We describe for the first time the association of CF and Beckwith-Wiedemann syndrome (BWS). BWS is a genetic disorder commonly characterized by overgrowth. The most common features of BWS include macrosomia, macroglossia, abdominal wall defects, an increased risk for childhood tumors, kidney abnormalities, hypoglycemia in the newborn period and unusual ear creases or pits. PMID:25584105

  19. A case of perforating folliculitis in association with antisynthetase syndrome.

    PubMed

    Shaw, K C; Kaley, J R; Darling, M D; Patterson, J W; Chokoeva, A A; Lotti, T; Wollina, U; Tchernev, G

    2015-01-01

    Perforating folliculitis (PF) describes the process by which altered dermal material is eliminated from the epidermis through a follicular unit resulting in keratotic, follicular papules that favor hair-bearing regions of the forearms, arms, buttocks, and thighs. Diabetes mellitus (DM) and chronic renal failure (CRF) are commonly associated with PF. The more general term, acquired perforating dermatosis, has been applied to PF as well as Kyrle?s disease and the non-inherited form of perforating collagenosis. In this report, we describe an instance of PF that arose in the setting of preexisting antisynthetase syndrome. PMID:26016976

  20. An Unusual Case of Serotonin Syndrome with Oxycodone and Citalopram

    PubMed Central

    Walter, Clare; Ball, David; Duffy, Mary; Mellor, James D.

    2012-01-01

    A 77-year-old female with recurrent non-small-cell lung cancer presented to a hospital outpatient clinic with tremor, weakness, inability to coordinate motor movements, and confusion. It was suspected that the symptoms were due to possible central nervous system metastases; however, a CT scan of her head was unremarkable. The lung clinic liaison pharmacist took a medication history from the patient, complimented by extra information from the patient's community pharmacy. The pharmacist suspected the rare side effect of serotonin syndrome was responsible for the patient's presenting symptoms caused by the combination of oxycodone and citalopram. The patient's symptoms resolved soon after oxycodone was changed to morphine. PMID:22690346

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

    PubMed Central

    2013-01-01

    Intersection syndrome describes a rare inflammatory condition located at the crossing point between the first dorsal compartment muscles and the radial wrist extensor muscles. It is a repetitive motion injury that affects patients who overuse their wrists. The present report reviews the incidence of the condition as well as the special populations it affects. The anatomy of the wrist is presented and clinical findings and physical examination techniques are reviewed to help the reader reach a quick but correct diagnosis. Finally, the most appropriate treatment approach is presented, incorporating rehabilitative methods designed to ensure a full and prompt functional recovery and resumption of physical activity. PMID:23960708

  2. [Cushing syndrome in a neuroendocrine pancreatic tumor. Clinicopathologic case report].

    PubMed

    Schneider, C; Mittelmeier, H O; Gebhardt, C

    1992-11-01

    A 59-year-old female patient with mild clinical features of a Cushing syndrome underwent surgery for a suspected hormonally active tumor of the left adrenal gland. Surprisingly, the adrenal gland was unremarkable, however, a tumor in the pancreatic tail was found. A left pancreatic resection with splenectomy resulted in curative removal of the tumor. The pathohistological examination of the tumor established the diagnosis of an ACTH-producing pancreatic carcinoid. Morphology and pathogenesis of pancreatic carcinoids which are tumors of the APUD-cell-system are discussed in detail. PMID:1336088

  3. Hemimegalencephalic variant of epidermal nevus syndrome: case report and literature review.

    PubMed

    Pavlidis, Elena; Cantalupo, Gaetano; Boria, Sonia; Cossu, Giuseppe; Pisani, Francesco

    2012-07-01

    The epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. The association of epidermal nevi and neurologic abnormalities was comprehensively described by Schimmelpenning in 1957. Pavone et al. (1991) identified a homogeneous variant of ENS with hemimegalencephaly, gyral malformation, mental retardation, seizures and facial hemihypertrophy. A 13-year-old boy with the neurologic variant of ENS with hemimegalencephaly, facial asymmetry, febrile seizures and mental retardation is reported. Additionally, we performed a literature review using the search terms "epidermal nevus syndrome" and "hemimegalencephaly", including secondary sources of data such as reference lists of articles reviewed. We found 57 previously reported cases with the hemimegalencephalic variant of epidermal nevus syndrome, in which the most frequent associated features are severe epilepsy, in about half of cases with neonatal onset, mental retardation/developmental delay, ocular/visual involvement, and facial abnormalities. PMID:22200538

  4. Rapunzel syndrome: a comprehensive review of an unusual case of trichobezoar.

    PubMed

    Gonuguntla, Veena; Joshi, Divya-Devi

    2009-09-01

    An unusual form of bezoar extending from the stomach to the small intestine or beyond has been described as Rapunzel syndrome. Bezoars are concretions in the gastrointestinal tract that increase in size by continuous accumulation of non-absorbable food or fibers. Most bezoars in children are trichobezoars from swallowed hair from the head, dolls, or brushes. Trichobezoars typically cause abdominal pain and nausea, but can also present as an asymptomatic abdominal mass, progressing to abdominal obstruction and perforation. Trichobezoar with Rapunzel syndrome is an uncommon diagnosis in children with less than 40 cases reported. It is predominantly found in emotionally disturbed or mentally retarded youngsters. We present the youngest case of Rapunzel syndrome in the United States, a 5-year-old girl with mental retardation who presented with abdominal pain, vomiting and a non-tender abdominal mass. PMID:19625498

  5. Erasmus Syndrome in a 42-Year-Old Male: A Rare Case Report

    PubMed Central

    Pan, Koushik

    2015-01-01

    Erasmus syndrome is a rare entity in which systemic sclerosis develops following exposure to silica with or without silicosis. Few case reports are available in literature. We report here a case of Erasmus syndrome in a 42-year-old manual labourer. The patient presented with arthralgia, Raynoud’s phenomenon, skin tightening and microstomia along with features of Interstitial Lung Disease (ILD) and pulmonary arterial hypertension. Evidence of Interstitial Lung Disease (ILD) with mediastinal lymphadenopathy as well as pulmonary arterial hypertension with vascular reactivity was found in appropriate investigations. Serological markers of systemic sclerosis were strongly positive. After a diagnosis of Erasmus syndrome was made, a combination of drugs including Prednisone, Cyclophosphamide and Nifedipine was instituted this led to moderate improvement in his symptoms over 6 months. PMID:26155508

  6. Imaging findings in a case of Gorlin-Goltz syndrome: a survey using advanced modalities

    PubMed Central

    Shakibafar, Ali Reza; Houshyar, Maneli; Nafarzade, Shima

    2011-01-01

    Gorlin-Goltz syndrome is an infrequent multi-systemic disease which is characterized by multiple keratocysts in the jaws, calcification of falx cerebri, and basal cell carcinomas. We report a case of Gorlin-Goltz syndrome in a 23-year-old man with emphasis on image findings of keratocyctic odontogenic tumors (KCOTs) on panoramic radiograph, computed tomography, magnetic resonance (MR) imaging, and Ultrasonography (US). In this case, pericoronal lesions were mostly orthokeratinized odontogenic cyst (OOC) concerning the MR and US study, which tended to recur less. The aim of this report was to clarify the characteristic imaging features of the syndrome-related keratocysts that can be used to differentiate KCOT from OOC. Also, our findings suggested that the recurrence rate of KCOTs might be predicted based on their association to teeth. PMID:22232727

  7. Upper extremity deep vein thrombosis (Paget-Schroetter syndrome) after surfing: a case report.

    PubMed

    Keene, David J

    2015-04-01

    This case report summarises the presentation of a 28-year-old female with signs and symptoms characteristic of thoracic outlet syndrome, but who was later found to have an effort-induced Upper Extremity Deep Vein Thrombosis (UEDVT), otherwise known as Paget-Schroetter syndrome. Effort-induced UEDVT is rare, but the similarity between the signs and symptoms of thoracic outlet syndrome and this type of thrombosis can result in patients with this condition presenting to musculoskeletal therapists. The key features of the case are described, followed by an overview of UEDVT and the importance of recognising this condition in musculoskeletal therapy practice. The role of therapists in referring for early medical diagnostics is key to ensuring management of the thrombosis is instigated early, therefore reducing the risk of life threatening consequences such as pulmonary embolism. PMID:25220111

  8. [A case of Richner-Hanhart syndrome (tyrosinosis with ocular, cutaneous and mental manifestations].

    PubMed

    Goddé-Jolly, D; Larregue, M; Roussat, B; Van Effenterre, G

    1979-01-01

    A case of Richner-Hanhart syndrom with tyrosinemia is being reported. The diagnosis was suggested from clinical manifestations of this syndrom : superficial opacities of the cornea in an infant preceeding hyperkeratosis of the palms and soles and mild mental retardation. It has been confirmed by the high levels of blood tyrosine. The introduction of a diet low in tyrosine and alanine has lead to a rapid improvement and finally a complete cure of the ophthalmological and dermatological symptoms. The normal metabolism of tyrosine is recalled as well as the specific metabolic aberration responsable for this syndrom (deficiency of cytosol tyrosine amino-transferase). This case is being compared with those which have been previously reported. PMID:34642

  9. [The Roux loop syndrome: a postgastrectomy syndrome. Description of 2 clinical cases].

    PubMed

    Sinibaldi, G; Manzini, L; Manicardi, L; Sgarbi, G

    1992-08-01

    The Roux-En-Y operation has been used to control enterogastric reflux occurring after previous distal gastric resection and it has been used extensively in the treatment of alkaline reflux. Recently a postgastrectomy syndrome characterized by chronic abdominal pain, persistent nausea and vomiting that is exacerbated by eating and that develops after the Roux-En-Y operation has been described. It has therefore been postulated that the Roux-En-Y limb acts as a functional obstruction and causes the symptoms. PMID:1407633

  10. Red ear syndrome precipitated by a dietary trigger: a case report

    PubMed Central

    2014-01-01

    Introduction Red ear syndrome is a rare condition characterized by episodic attacks of erythema of the ear accompanied by burning ear pain. Symptoms are brought on by touch, exertion, heat or cold, stress, neck movements and washing or brushing of hair. Diagnosis and treatment of this condition are challenging. The case we report here involves a woman whose symptoms were brought on by a dietary trigger: orange juice as well as stress, causing significant physical and psychological morbidity. Avoidance of triggers resulted in symptomatic improvement. Case presentation A 22-year-old Caucasian woman who was a student presented twice to our department with evolving symptoms, the first time with hyperacusis (abnormal sound sensitivity arising from within the auditory system to sounds of moderate volume), intermittent right tinnitus and subjective hearing difficulties. She presented five years later with highly distressing episodes of erythematous ears, which were associated with burning pain around the ear and temporal areas, and intolerance to noise. After keeping a symptom diary, she identified orange juice and stress as triggers of her symptoms. No local head and neck pathology was present. Investigations and imaging were negative. Avoidance of triggers led to great symptomatic improvement. To the best of our knowledge, dietary triggers have not previously been reported as a trigger for this syndrome. This case shows a direct temporal link to a dietary trigger and supports a primary pathogenesis. Recognition and management of primary headache disorder and simple dietary and lifestyle changes brought about symptomatic relief. Conclusion Red ear syndrome is a little-known clinical syndrome of unknown etiology and management. To the best of our knowledge, our present case report is the first to describe primary red ear syndrome triggered by orange juice. Clinical benefit derived from avoidance of this trigger, which is already known to precipitate migraines, gives some insight into the pathogenesis of red ear syndrome. PMID:25303997

  11. Diode laser photocoagulation in PHACES syndrome hemangiomas: a case series

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Russo, N.; Polimeni, A.; Favia, G.; Lacaita, M. G.; Limongelli, L.; Franco, S.

    2014-01-01

    PHACES syndrome is a pediatric syndrome with cutaneous and extra-cutaneous manifestations, such as Posterior fossa defects, Hemangiomas, Arterial lesions, Cardiac abnormalities/aortic coarctation, Eye abnormalities and Sternal cleft. Facial hemangiomas affect the 75% of patients and may arise on the oral mucosa or perioral cutaneous regions. In this study we treated 26 Intraoral Haemangiomas (IH) and 15 Perioral Haemangiomas (PH) with diode laser photocoagulation using a laser of 800+/-10nm of wavelength. For IH treatment an optical fiber of 320 ?m was used, and the laser power was set ted at 4 W (t-on 200 ms / t-off 400ms; fluence: 995 J/cm2). For PH treatment an optical fiber of 400 ?m at the power of 5 W was used (t-on 100 ms / t-off 300 ms; fluence: 398 J/cm2). IH healed after one session (31%), the other (69%) after two sessions of Laser therapy. In each session, only a limited area of the PH was treated, obtaining a progressive improvement of the lesion. Diode laser photocoagulation is an effective option of treatment for IH and PH in patients affected by PHACE because of its minimal invasiveness. Moreover laser photocoagulation doesn't have side effects and can be performed repeatedly without cumulative toxicity. Nevertheless, more studies are required to evaluate the effectiveness of the therapy in mid and long time period.

  12. A Case of Stiff Person Syndrome: Immunomodulatory Effect of Benzodiazepines

    PubMed Central

    Zdziarski, Przemyslaw

    2015-01-01

    Abstract Stiff person syndrome (SPS) is a rare autoimmune disease. Most patients have high-titer antibodies against glutamate decarboxylase (GADAb), which is without practical value in disease monitoring. Benzodiazepines are the first line drugs, but long-term use is not well characterized. This report demonstrates ineffective benzodiazepine therapy of SPS that prompts tachyphylaxis, loss of responsiveness, and finally benzodiazepine withdrawal syndrome. Convulsion and anxiety correlate with high level of creatine phosphokinase (CK). Although tonus and spasm attacks were successfully controlled by tizanidine, glutamate release inhibitor, the immune response, and autoimmune diabetes development require the plasmapheresis, mycophenolat mofetil, and rituximab therapy that results in a significant decrease of GADAb, impaired glucose tolerance (IGT), lactate dehydrogenase (LDH), and CK normalization. Unfortunately, reintroduction of benzodiazepine was a source of rapid and high increase of CK, LDH, GADAb titer (up to 1:15,000), IGT, and SPS relapse. Contrary to previous publications, we observed IGT that correlated with high anti-GAD level, but without high immunogenetic susceptibility to haplotype human leukocyte antigens-DR3, DQw2. This preliminary observation and the last finding of immunomodulatory properties of peripheral benzodiazepine receptor suggest that increased antigenic stimulation during benzodiazepine therapy and glutamatergic hyperactivity could account for convulsions observed in SPS. Benzodiazepine withdrawal prompted alternative muscle relaxant therapy (tizanidine). Muscular and brain abnormalities observed in SPS indicate that noncardiac CK level may be a useful tool in SPS therapy monitoring. PMID:26061327

  13. Selective IgA deficiency mimicking Churg-Strauss syndrome and hypereosinophilic syndrome: a case report.

    PubMed

    Takahashi, Noriyuki; Kondo, Takeshi; Fukuta, Mamiko; Takemoto, Ayumu; Takami, Yuichiro; Sato, Motoki; Ando, Takafumi; Hashimoto, Naozumi; Suzuki, Tomio; Sato, Juichi; Yamamura, Masahiro; Ban, Nobutaro

    2013-02-01

    Selective IgA deficiency (SIgAD) is the most common type of primary immunoglobulin deficiency. Most individuals with SIgAD are asymptomatic. However, some patients are associated with allergic and autoimmune disease. SIgAD is included in the list of differential diagnoses of eosinophilia. We experienced a patient who initially presented with abdominal pain and eosinophilia. A >1-year follow-up revealed SIgAD, and we had difficulty differentiating it from Churg-Strauss syndrome (CSS) or hypereosinophilic syndrome (HES). A 66-year-old Japanese male presented with a history of recurrent abdominal pain. A diagnostic work-up revealed eosinophilia, eosinophilic gastritis, eosinophilic pneumonia, and SIgAD over 1 year of clinical observation. He also suffered from asthma and sinusitis. Anti-neutrophil cytoplasmic antibody was negative and vasculitis was not detected in the obtained tissue specimens of stomach, lung, nose and skin. The patient showed no evidence of drug ingestion, parasitic infections, or malignant neoplasms. Although we cannot rule out prevasculitic CSS and idiopathic HES, the whole clinical picture in this patient can be explained most consistently by SIgAD. PMID:23544278

  14. Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.

    PubMed

    Gu, Wei-Jun; Zhang, Qian; Wang, Ying-Qian; Yang, Guo-Qing; Hong, Tian-Pei; Zhu, Da-Long; Yang, Jin-Kui; Ning, Guang; Jin, Nan; Chen, Kang; Zang, Li; Wang, An-Ping; Du, Jin; Wang, Xian-Ling; Yang, Li-Juan; Ba, Jian-Ming; Lv, Zhao-Hui; Dou, Jing-Tao; Mu, Yi-Ming

    2015-11-01

    Kallmann syndrome, a form of idiopathic hypogonadotropic hypogonadism, is characterized by developmental abnormalities of the reproductive system and abnormal olfaction. Despite association of certain genes with idiopathic hypogonadotropic hypogonadism, the genetic inheritance and expression are complex and incompletely known. In the present study, seven Kallmann syndrome pedigrees in an ethnic Han Chinese population were screened for genetic mutations. The exons and intron-exon boundaries of 19 idiopathic hypogonadotropic hypogonadism (idiopathic hypogonadotropic hypogonadism)-related genes in seven Chinese Kallmann syndrome pedigrees were sequenced. Detected mutations were also tested in 70 sporadic Kallmann syndrome cases and 200 Chinese healthy controls. In pedigrees 1, 2, and 7, the secondary sex characteristics were poorly developed and the patients' sense of smell was severely or completely lost. We detected a genetic mutation in five of the seven pedigrees: homozygous KAL1 p.R191ter (pedigree 1); homozygous KAL1 p.C13ter (pedigree 2; a novel mutation); heterozygous FGFR1 p.R250W (pedigree 3); and homozygous PROKR2 p.Y113H (pedigrees 4 and 5). No genetic change of the assayed genes was detected in pedigrees 6 and 7. Among the 70 sporadic cases, we detected one homozygous and one heterozygous PROKR2 p.Y113H mutation. This mutation was also detected heterozygously in 2/200 normal controls and its pathogenicity is likely questionable. The genetics and genotype-phenotype relationships in Kallmann syndrome are complicated. Classical monogenic inheritance does not explain the full range of genetic inheritance of Kallmann syndrome patients. Because of stochastic nature of genetic mutations, exome analyses of Kallmann syndrome patients may provide novel insights. PMID:26031747

  15. A case of Munchausen syndrome with claims of trauma and haemophilia.

    PubMed Central

    Park, G; Huang, A; Wright, S

    1996-01-01

    A case of Munchausen syndrome presented with both factitious trauma and factitious haemophilia. He was treated inappropriately with factor VIII concentrate before the history of the presenting complaint could be validated. Clinical suspicion remains the most important aid to diagnosis. Images Figure 1 PMID:8832359

  16. Exploring the Roles and Nature of Science: A Case Study of Severe Acute Respiratory Syndrome

    ERIC Educational Resources Information Center

    Lee, Yeung Chung

    2008-01-01

    The roles of science in society and the nature of science are the focus of many science curricula. Current views about these two aspects of science have largely been informed by the history of scientific development. This article uses the outbreak of severe acute respiratory syndrome--a recent health scare--as a case study to explore the roles of…

  17. Successful Aging in a 70-Year-Old Man with Down Syndrome: A Case Study

    ERIC Educational Resources Information Center

    Krinsky-McHale, Sharon J.; Devenny, Darlynne A.; Gu, Hong; Jenkins, Edmund C.; Kittler, Phyllis; Murty, Vundavalli V.; Schupf, Nicole; Scotto, Luigi; Tycko, Benjamin; Urv, Tiina K.; Ye, Lingling; Zigman, Warren B.; Silverman, Wayne

    2008-01-01

    The authors present a case study of a 70-year-old man with Down syndrome ("Mr. C.") who they followed for 16 years and who does not exhibit declines in cognitive or functional capacities indicative of dementia, despite having well-documented, complete trisomy 21. The authors describe the age-associated changes that occurred over 16 years as well…

  18. Management of F/P+/- hypereosinophilic syndromes: case report and treatment review.

    PubMed

    Kalra, Ankur; Palaniswamy, Chandrasekar; Kalra, Ankit; Wig, Naveet; Sood, Rita

    2012-09-01

    Eosinophilia in clinical practice can occur due to various pathologic processes. Causes of eosinophilia include idiopathic eosinophilia, reactive eosinophilia, idiopathic hypereosinophilic syndrome (HES), chronic eosinophilic leukemia, and other hematopoietic neoplasms (myeloid, lymphatic, or mast cell). We present a case of a 22-year-old man with HES with remarkable clinical manifestations and treatment challenges. PMID:20724910

  19. Cerebral aneurysms and accelerated atherosclerosis in Russell-Silver syndrome: a new subtype? Case report.

    PubMed

    Pülhorn, Heinke; Pesic-Smith, Jonathan; Cowley, Peter; Murphy, Mary

    2015-08-01

    The authors describe the case of a 32-year-old woman known to have Russell-Silver syndrome who presented with repeated aneurysmal subarachnoid hemorrhage. Multiple intracranial aneurysms and advanced peripheral vascular disease were demonstrated. The authors postulate a link between these vascular features and the patient's genetic condition. PMID:25555030

  20. A case of Barber-Say syndrome in a male Japanese newborn

    PubMed Central

    Suga, Kenichi; Shono, Miki; Goji, Aya; Matsuura, Sato; Inoue, Miki; Kawahito, Masami; Kinoshita, Michiyo; Takeda, Misa; Mori, Kazuhiro

    2014-01-01

    Key Clinical Message We reported a case of Barber-Say syndrome (BSS) in a Japanese newborn. Distinctive features of BSS were found; macrostomia, gingival dysplasia, cup-shaped low-set ears, wrinkling redundant skin, and hypertrichosis. Fundus showed subretinal drusenoid deposits, a novel finding of BSS. Genetic analysis is underway using next-generation genome sequencing and microarray analysis. PMID:25614816

  1. Mediating Meaning for Individuals with Down Syndrome: A Phenomenological Case Study

    ERIC Educational Resources Information Center

    McCullough, Michelle J.

    2012-01-01

    The current phenomenological case study, based in part on Vygotsky's sociocultural theory, set out to examine the lived experiences of individuals sharing and mediating meaningful communication with individuals who have Down syndrome. To accomplish this, the researcher interviewed several categories of caregivers who regularly interact with…

  2. Tongue carcinoma in an adult Down's syndrome patient: a case report

    PubMed Central

    Farhat, Fadi S; Geara, Fady; Natout, Mohamed; Serhal, Jamal; Daya, Walid

    2009-01-01

    Background Cancer of the oral cavity is rare and unusual in Down's syndrome patient. The over all risk is similar to that in adult population. Case presentation This case report describes a 27 years old male with Down's syndrome, non-smoker, who developed a poorly differentiated squamous cell carcinoma of the tongue. The patient underwent a hemiglossectomy without neck dissection followed by a postoperative locoregional radiation therapy to a total tumor-bed dose of 56 Gy and 45 Gy to the neck. Three months later, the patient presented with local tongue recurrence and was treated by Docetaxel and Carboplatin chemotherapy with no significant response. The patient died one month later, 9 months after his initial diagnosis. Conclusion To our knowledge, this is the first case of tongue carcinoma arising in a patient with Down's syndrome. This unique case might not be sufficient to make a significant conclusion on the prognosis and survival of these patients but will increase the awareness about this possibility and will help in the appropriate management of Down's syndrome patients. PMID:19261193

  3. How Well Do Young Offenders with Asperger Syndrome Cope in Custody?: Two Prison Case Studies

    ERIC Educational Resources Information Center

    Paterson, Philip

    2008-01-01

    This article is based on a study undertaken in 2005. It was conducted under the supervision of Professor Carolyn Kagan and with the approval of an ethics committee from the department of psychology and speech pathology at Manchester Metropolitan University. Case examples are explored of two male young offender prisoners who have Asperger syndrome

  4. Preoperative splenic artery embolization in klippel-Trenaunay syndrome with massive splenomegaly: A case report.

    PubMed

    Zhang, Zishu; Dasika, Narasimham L; Englesbe, Michael J; Owens, Scott R; Vellody, Ranjith; Novelli, Paula M; Shields, James J

    2014-04-01

    The authors describe a case of Klippel-Trenaunay syndrome (KTS) with massive splenomegaly in a 29-year-old woman. Preoperative splenic artery embolization using the "double embolization technique" (a combination of distal selective splenic artery embolization and proximal splenic artery occlusion) facilitated open splenectomy. PMID:24761383

  5. Boerhaave's Syndrome: A Review of the Initial Management with Illustrative Case History.

    PubMed

    Ping Ng, Khai; Brauer, Sue; Snape, Jeremy

    2007-01-01

    Boerhaave's syndrome is a rare condition on the acute medical 'take' but has a high mortality and significant morbidity if not diagnosed early. This article reviews the approach to management at the 'front door', summarising the initial investigations and treatment. A recent case presenting to our unit is included at the end of the review to illustrate some of the issues raised. PMID:21611594

  6. Omohyoid Muscle Syndrome in a Mixed Martial Arts Athlete: A Case Report.

    PubMed

    Lee, Alexander D; Yu, Alexander; Young, Shayne B; Battaglia, Patrick J; Ho, C John

    2015-09-01

    Omohyoid muscle syndrome is a rare cause of an X-shaped bulging lateral neck mass that occurs on swallowing. This is a diagnostic case report of a 22-year-old mixed martial arts athlete who acquired this condition. PMID:26502424

  7. Hungarian case with Costello syndrome and translocation t(1,22)

    SciTech Connect

    1995-07-03

    The purpose of this short case report is to document the presence of the Costello syndrome in a Hungarian girl. Clinical manifestations include characteristic facial changes, skeletal involvements, mild mental retardation. Chromosome analysis showed a balanced translocation: 46,XX,t(1,22)(q25,q11). 7 refs., 1 fig.

  8. Acoustic and Perceptual Correlates of Foreign Accent Syndrome with Manic Etiology: A Case Study

    ERIC Educational Resources Information Center

    Lewis, Skye; Ball, Laura J.; Kitten, Suzanna

    2013-01-01

    In foreign accent syndrome (FAS), changes in articulation and prosody cause listeners to perceive the speaker as "foreign-sounding." Fewer than 100 cases of FAS have been described in the literature; commonly associated with brain damage, only a handful of these have been analyzed with respect to acoustic measures. Acoustic and…

  9. Thumb Carpometacarpal Joint Stabilization in Ehlers-Danlos Syndrome - Case Report.

    PubMed

    Breahna, Anca Nicoleta; Meads, Bryce Maurice

    2015-10-01

    We report the case of an 18-years-old patient with thumb carpometacarpal ligament laxity due to Ehlers-Danlos syndrome who was treated with trapezial opening wedge osteotomy combined with volar ligaments reconstruction. Two years postoperatively she is pain free and the thumb carpometacarpal joint is stable. PMID:26388011

  10. [Psychotic Disorder and Sheehan's Syndrome: Etiology or Comorbidity?: A Case Report].

    PubMed

    T?k?r, Baise; Göka, Erol; Aydemir, Makbule Çi?dem; Gürkan, ?ahin

    2015-01-01

    Sheehan's Syndrome -also called postpartum hypopituitarism- is a syndrome which characterized by lots of bleeding during or after delivery and necrosis of pituitary gland due to hypovolemic shock. It appears with not only agalactorrhea, amenorrhea, hypoythyroidism and hypoglycemia but also psychiatric disorders like psychosis. In this study, we reported a case presented with psychotic disorder and diagnosed as Sheehan's Syndrome at the same time. 44 year-old, female patient, married. She was admitted for withdrawal, irritability, insomnia, hearing voices -especially insult her- thoughts about that her husband was cheating on her and people would do evil. She was diagnosed as psychotic disorder and she was treated with olanzapine 20 mg/day. She had hypopituitarism symptoms so hormone tests and cranial MRI are done. Sheehan's syndrome was also diagnosed and prednisolone and tyroxine were added to the treatment. Her symptoms were disappeared one months later Olanzapine was stopped after 4 months and her treatment continued with prednisolone and tyroxine. Studies about etiology of psychotic symptoms refer to endocrine and autoimmune systems. In this study, we discussed a case that diagnosed as psychotic disorder and Sheehan's Syndrome -diagnosed 24 years later and etiological aspect with the follow-up period and treatment. PMID:26111291

  11. Case of inappropriate ADH syndrome: Hyponatremia due to polyethylene glycol bowel preparation

    PubMed Central

    Ko, Sun-Hye; Lim, Chul-Hyun; Kim, Jae-Young; Kang, Seung Hun; Baeg, Myong Ki; Oh, Hyun Jin

    2014-01-01

    Colonoscopic screening has been reported to reduce deaths from colorectal cancer. Adequate bowel preparation is essential for this and safety is an important issue in choosing the methods. Polyethylene glycol (PEG) is regarded as a safe method for cleansing, especially compared with oral sodium phosphate. Here, we present a case of hyponatremia caused by the syndrome of inappropriate antidiuretic hormone (ADH) syndrome after PEG precolonoscopic cleansing resulting in generalized tonic-clonic seizures. A 62-year-old women had ingested PEG for precolonoscopic bowel cleansing. While waiting for the colonoscopy, she developed a stuporous mentality and generalized tonic-clonic seizures, which did not correlate with brain magnetic resonance imaging. Her serum sodium level was 113 mEq per liter and laboratory analyses were consistent with inappropriate ADH syndrome. Her thyroid and adrenal functions were normal. There were no malignancies, infections, respiratory disorders or central nervous disorders and she had no history of taking either diuretics or other medications, which might have caused inappropriate ADH syndrome. She was treated with 3% hypertonic saline and showed a complete neurological recovery as her sodium levels recovered. Follow-up visits showed the patient to have a normal sodium level without neurologic deficits. This case shows that inappropriate ADH syndrome can be caused by PEG preparation, which implies that physicians have to be aware of the possible side effects of this colonic cleansing approach and mindful of the possible ensuing symptoms. PMID:25232272

  12. Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case.

    PubMed

    Shigeyasu, Kunitoshi; Tanakaya, Kohji; Nagasaka, Takeshi; Aoki, Hideki; Fujiwara, Toshiyoshi; Sugano, Kokichi; Ishikawa, Hideki; Yoshida, Teruhiko; Moriya, Yoshihiro; Furukawa, Yoichi; Goel, Ajay; Takeuchi, Hitoshi

    2014-10-01

    Lynch syndrome is an autosomal dominant disease associated with a high incidence of colorectal, endometrial, stomach, ovarian, pancreatic, ureter and renal pelvis, bile duct and brain tumors. The syndrome can also include sebaceous gland adenomas and keratoacanthomas, and carcinoma of the small bowel. The lifetime risk for bile duct cancer in patients with Lynch syndrome is approximately 2 %. The present report describes a case of Lynch syndrome with metachronous bile duct cancer diagnosed at an early stage. The patient was a 73-year-old Japanese male who underwent a successful left lobectomy of the liver, and there was no sign of recurrence for 2 years postoperative. However, this patient harbored a germline mutation in MLH1, which prompted diagnostic examinations for noncolorectal tumors when a periodic surveillance blood examination showed abnormal values of hepatobiliary enzymes. Although most patients with bile duct cancer are diagnosed at an advanced stage, the bile duct cancer was diagnosed at an early stage in the present patient due to the observation of the gene mutation and the preceding liver tumor. This case illustrates the importance of continuous surveillance for extracolonic tumors, including bile duct cancer, in patients with Lynch syndrome. PMID:23896635

  13. RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy.

    PubMed

    Nakayama, Tojo; Saitsu, Hirotomo; Endo, Wakaba; Kikuchi, Atsuo; Uematsu, Mitsugu; Haginoya, Kazuhiro; Hino-fukuyo, Naomi; Kobayashi, Tomoko; Iwasaki, Masaki; Tominaga, Teiji; Kure, Shigeo; Matsumoto, Naomichi

    2014-06-01

    Proximal 4p deletion syndrome is characterized clinically by mental retardation, minor dysmorphic facial features, and is occasionally complicated with epilepsy. More than 20 cases of proximal 4p deletion syndrome have been reported, but the causative gene(s) remain elusive. We describe here a 2-year-old female patient with a common manifestation of proximal 4p deletion syndrome and infantile epileptic encephalopathy possessing a de novo balanced translocation t(4;13)(p15.2;q12.13). The patient was diagnosed as infantile spasms at 9 months of age. She presented with dysmorphic facial features and global developmental delay, compatible with proximal 4p deletion syndrome. Using fluorescence in situ hybridization, we determined the translocation breakpoint at 4p15.2 to be within RBPJ. RBPJ is a transcription factor in the Notch/RBPJ signaling pathway, playing a crucial role in the developing human brain, and particularly telencephalon development. Our findings, combined with those of previous studies, strongly suggest that RBPJ is causative for proximal 4p deletion syndrome and epilepsy in this case. PMID:23958593

  14. Capgras Syndrome in a Patient with Parkinson's Disease after Bilateral Subthalamic Nucleus Deep Brain Stimulation: A Case Report

    PubMed Central

    Kyrtsos, Christina Rose; Stahl, Mark C.; Eslinger, Paul; Subramanian, Thyagarajan; Lucassen, Elisabeth B.

    2015-01-01

    Capgras syndrome is a delusional misidentification syndrome (DMS) which can be seen in neurodegenerative diseases such as Lewy body dementia and, to a lesser extent, in Parkinson's disease (PD). Here, we report the case of a 78-year-old man with a history of idiopathic PD who developed Capgras syndrome following bilateral subthalamic nucleus deep brain stimulation (DBS) implantation. As the risk of DMS has been related to deficits in executive, memory, and visuospatial function preoperatively, this case highlights the importance of continuing to improve patient selection for DBS surgery. Capgras syndrome is a rare potential complication of DBS surgery in PD patients with preexisting cognitive decline. PMID:26078747

  15. Construction of a YAC contig in the region of three retinal degeneration genes in 11q13

    SciTech Connect

    Gerhard, J.; Wang, J.

    1994-09-01

    We have previously isolated a large number of bacteriophage clones specific for human chromosome 11. Seventy-two clones map to distal 11q13, a region haboring a number of human disease genes. Among them are genes for Best macular degeneration (BMD), Usher`s syndrome type 1B, autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) and a form of Bardet-Biedl syndrome; all diseases involve retinal degenerations. From the genetic mapping it is clear the BMD and Bardet-Biedl syndrome are located in the proximal portion of the band, while Usher`s syndrome 1B and ADNIV are in the distal portion of 11q13. As the first step towards the cloning of the latter two disease genes, we set out to isolate this region of the chromosome as yeast artificial chromosomes (YACs). The 72 clones, as well as two transcribed genes, were assigned into 4 segregation groups with radiation-reduced somatic cell hybrids. We have shown previously that this high probe density can result in the development of large YAC contigs. We chose to use two complementing strategies to screen three different YAC libraries. The two strategies are: (1) the generation of Alu-primed products from the bacteriophage clones that are then used as probes against filters from individual YAC library pools; (2) the sequencing of the bacteriophage clones, STS development and screening YAC libraries by the method of Green and Olson (1990). The former has the advantage of speed, while the latter of specificity. We have identified a total of 140 YACs from 50 screens. Approximately 50% of the markers are already in small contigs. The largest contig has 10 markers and is {approximately}1 mbp. This approach results in fairly rapid development of YAC contigs without additional application of labor-intensive, locus-specific manipulation. We expect to complete the contig within a year.

  16. Donohue syndrome: a new case with a new complication.

    PubMed

    Odeh, Rasha; Alassaf, Abeer; Al-Qudah, Abdelkarim A

    2015-07-01

    Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million live births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor gene. DS is characterized by pre- and postnatal growth retardation with failure to thrive, lipoatrophy, muscle wasting, acanthosis nigricans, hypertrichosis, and dysmorphic features. Glucose homeostasis is affected with hyperinsulinemia, fasting hypoglycemia, and postprandial hyperglycemia. We report a Jordanian patient with genetically proven DS who had the classical physical features, progressive hypertrophic cardiomyopathy, cholestasis, and hyperglycemia, followed by hypoglycemia. In addition, the patient developed polyuria and uremia despite normal creatinine levels, hypernatremia, and hypertension. To our knowledge, these metabolic derangements were not previously reported in patients with DS. PMID:25741786

  17. Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report

    PubMed Central

    PONTI, GIOVANNI; POLLIO, ANNAMARIA; PASTORINO, LORENZA; PELLACANI, GIOVANNI; MAGNONI, CRISTINA; NASTI, SABINA; FORTUNA, GIULIO; TOMASI, ALDO; SCARRÀ, GIOVANNA BIANCHI; SEIDENARI, STEFANIA

    2012-01-01

    Mutations in the Patched homolog 1 (PTCH1) gene lead to an autosomal dominant disorder known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (GS). Several PTCH1 mutations have been observed in NBCCS associated with keratocystic odontogenic tumors (KCOTs), including non-syndromic KCOTs. The missense mutation c.3277G>C (p.G1093R) in exon 19 of the PTCH1 gene has only been reported in non-syndromic KCOTs. The present study reports for the first time a familial case (father and daughter) of NBCCS and KCOTs, carrying the same c.3277G>C (p.G1093R) germline mutation. This observation suggests that this missense mutation is involved in the pathogenesis of NBCCS as well as in a subset of non-syndromic KCOTs. The identification of a missense mutation may lead to an earlier diagnosis of NBCCS. PMID:22844361

  18. A rare case of oesophageal rupture: Boerhaave's syndrome

    PubMed Central

    2014-01-01

    A 70-year-old patient was referred to our emergency department with severe retrosternal pain after forceful vomiting. Computed tomography (CT) scan revealed a left-sided oesophageal rupture with accompanying pneumomediastinum and bilateral pleural effusions. Conservative treatment with cessation of oral intake, intravenous broad-spectrum antibiotics, parenteral fluids and nutrition and left sided tube thoracostomy was initiated initially. After 5 days, however, the patient deteriorated. Follow-up CT scan demonstrated a mediastinal fluid collection as well as loculated pleural empyema. Open thoracotomy with mediastinal debridement and pleural drainage was performed, after which he made a slow but full recovery. Spontaneous oesophageal rupture due to an abrupt rise in intraluminal pressure caused by vomiting is also known as Boerhaave's syndrome. It is a rare but potentially life-threatening condition. Many patients present with atypical symptoms, and therefore, physicians should have a high index of suspicion in any patient presenting with vomiting and retrosternal pain. When Boerhaave's syndrome is suspected, a CT scan of the thorax and upper abdomen should be performed since treatment depends on clinical and radiological findings. Conservative management (cessation of oral intake, nasogastric decompression, administration of intravenous fluids and parenteral nutrition, intravenous broad-spectrum antibiotics and proton pump inhibitors and tube thoracostomies) may only be considered in patients with a contained rupture without systematic symptoms of infection. In these patients, endoscopic bridging of the tear with a self-expandable stent is also an option. Primary surgical repair (either by thoracotomy or by video assisted thoracoscopy (VATS)) should be considered when patients present with sepsis and/or large non-contained leaks or with severe mediastinal decontamination. PMID:25364474

  19. Copperhead Envenomation Resulting in a Rare Case of Hand Compartment Syndrome and Subsequent Fasciotomy

    PubMed Central

    Brys, Adam K.; Gandolfi, Brad M.; Gerardo, Charles J.

    2015-01-01

    Summary: Copperhead bites account for nearly 40% of all snakebites in the United States. Although common, these bites are rarely severe, and most are treated with supportive care and antivenom. We describe the first reported case of a copperhead envenomation resulting in a hand compartment syndrome with measured elevated compartment pressures that necessitated fasciotomy of the hand. Our case underscores the importance of vigilance in the diagnosis and management of copperhead envenomation. PMID:26090286

  20. [Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity].

    PubMed

    Meza Escobar, Luis Enrique; Isaza, Carolina; Pachajoa, Harry

    2012-10-01

    The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period. The management of each case must be specific and multidisciplinary. PMID:23070194

  1. An autopsy case of hemiconvulsion-hemiplegia-epilepsy syndrome manifesting as cerebral hemiatrophy in an elderly man.

    PubMed

    Iwase, Tamaki; Yoshida, Mari; Mizuno, Tomoyuki; Sato, Shinya; Nokura, Kazuya

    2015-12-01

    We report an autopsy case of hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome in a 79-year-old man. HHE syndrome usually occurs in children younger than 4 years of age. Although most HHE syndrome patients live into adult life, only a few cases of the syndrome have been reported in the elderly. In our case, cerebral hemiatrophy, left mesial temporal sclerosis and crossed cerebellar atrophy were observed. Because this is the oldest case ever reported, we further investigated age-related neuropathological changes and found an interhemispheric difference in amyloid-?-related neuropathologic changes. There were almost no senile plaques or amyloid-laden vessels in the left hemisphere. As far as we know, this is the first report of age-related neuropathology in a brain manifesting HHE syndrome. PMID:26179932

  2. An interesting case of straight back syndrome and review of the literature.

    PubMed

    Soleti, Pavan; Wilson, Bivin; Vijayakumar, Arani Rajabathar; Ignatius Sudhakar Chakravarthi, Paulraj; Reddy, Chilakala Gopinath

    2016-01-01

    Straight back syndrome is characterized by loss of the normal upper thoracic kyphosis, leading to a reduced anteroposterior diameter and squashing of the heart. Most patients are asymptomatic; if symptomatic, chest pain and palpitations are most common. On examination, the abnormal clinical findings simulate organic heart disease that needs to be ruled out by echocardiography and cardiac catheterization. A lateral chest radiograph is diagnostic. This condition is commonly associated with mitral valve prolapse and bicuspid aortic valve. We describe an interesting case of straight back syndrome with all the classic and rarely reported clinical findings. PMID:24906631

  3. A Case of Acute Fulminant Fat Embolism Syndrome after Liposuction Surgery

    PubMed Central

    Byeon, Seong Wook; Ban, Tae Hyun

    2015-01-01

    Fat embolism syndrome (FES) is a clinical manifestation that consists of multiple organ dysfunction due to fat emboli. FES occurs as a complication after trauma or procedures such as surgery. The diagnostic criteria of FES have not yet been established, so clinical criteria are used for its diagnosis. The clinical course of acute fulminant FES can be rapid. Liposuction surgery, in which adipocytes are mechanically disrupted, is one cause of FES. As the number of liposuction surgeries increases, clinicians should be aware of the possibility of FES. This was the first report of a case of acute fulminant FES with severe acute respiratory distress syndrome after liposuction surgery, in Korea. PMID:26508938

  4. Christ-Siemens-Touraine Syndrome: A Case Report and Review of the Literature

    PubMed Central

    Mokhtari, Sepideh; Mokhtari, Saeedeh; Lotfi, Ali

    2012-01-01

    Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Anhidrotic ectodermal dysplasia is the most common type of disease. This rare disorder, also known as Christ-Siemens-Touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. In view of the rarity of this entity, a classical case of anhidrotic ectodermal dysplasia is reported. We have also provided a review of recent investigations in the area of dental abnormalities in this syndrome. PMID:23243521

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

    PubMed

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

    2015-05-01

    A 2-year-old boy suffering from Cornelia de Lange syndrome, presented with mucopurulent ocular discharge and epiphora since birth. Irrigation and probing of the nasolacrimal system revealed and successfully treated bilateral nasolacrimal duct obstructions. Cornelia de Lange syndrome is characterized not only by typical facial features, visceral and urogenital anomalies but also by ophthalmological manifestations in 99% of cases. The most common ophthalmological disorders are synophrys, blepharitis, epiphora, hypertrichosis of the eyebrows and eyelashes, myopia, ptosis and nasolacrimal duct obstruction. PMID:25566737

  6. Subarachnoid and intracerebral hemorrhage in patients with churg-strauss syndrome: two case reports.

    PubMed

    Go, Myeong Hoon; Park, Jeong Un; Kang, Jae Gyu; Lim, Yong Cheol

    2012-09-01

    Churg-Strauss syndrome (CSS) is a systemic necrotizing vasculitis of the small and medium vessels, associated with extravascular eosinophilic granulomas, peripheral eosinophilia, and asthma. The exact etiology of CSS is unknown. This syndrome commonly affects the lungs, peripheral nerves, skin, heart, and gastrointestinal tract, but rarely the central nervous system. Subarachnoid and intracerebral hemorrhage in CSS patients is extremely rare; however, clinicians should consider that CSS may be a cause of intracranial hemorrhage and its high rate of mortality and morbidity. The authors report on two cases of subarachnoid and intracerebral hemorrhage with CSS and discuss a brief review of CSS. PMID:23210058

  7. [Platypnea-orthodeoxia syndrome: A case of hypoxemia associated with a patent foramen ovale].

    PubMed

    Diaconu, C; Abdou, V; Safar, B; Monsel, F; Amara, W

    2015-11-01

    Platypnea-orthodeoxia syndrome is a rare disease characterized by dyspnea and oxygen desaturation in the upright position with improvement in the supine position. We report a case of an 87-year-old woman with a recent history of traumatic hip, spine deformity and vertebral compression fracture, referred due to dyspnea oxygen desaturation. Thoracic tomodensitometry excluded the diagnosis of pulmonary embolism. Transthoracic echocardiography, with intravenous administration of agitated saline contrast solution, revealed the presence of atrial septal defect associated with a right to left shunting and mild enlargement of aortic root. Surgical closure of atrial septal defect resulted in resolution of the syndrome. PMID:26482634

  8. A case of Goldenhar-Gorlin syndrome with unusual association of hypoplastic thumb

    PubMed Central

    Ray, Biswarup; Das, Debabrata; Das, Somnath

    2008-01-01

    A case of Goldenhar-Gorlin syndrome in a seven-month-old male infant presented with the features of epibulbar dermoid, microtia and hemifacial microsomia associated with thumb defect. The dermoid was bilateral and microtia was unilateral. Preauricular appendages and pits were double and single respectively on both the sides. Hemifacial microsomia was unilateral and was associated with cleft lip, macrostomia, dental misalignment, large tongue and high arched palate. The association of hypoplastic thumb with Goldenhar-Gorlin syndrome has not been documented in the past. PMID:18292629

  9. General Anesthesia for a Child With Landau-Kleffner Syndrome, a Case Report

    PubMed Central

    Ghosh, Biswajit; Carsten, David

    2010-01-01

    Landau-Kleffner syndrome is a rare, epileptiform disorder with a pathognomonic sudden aphasia, epilepsy, and electroencephalographic abnormalities. It was first described in 1957. No case reports are included in the anesthesia literature. This case report describes a 9-year-old male who was treated for dental caries while under intubated general anesthesia. The case was successful and uneventful, with multiple precautions taken to prevent seizures or other complications. The authors hope that this report will provoke communication and additional case reports. PMID:20843226

  10. An intensive care approach to posterior reversible encephalopathy syndrome (PRES): An analysis of 7 cases

    PubMed Central

    Demirel, ?smail; Kavak, Burçin Salih; Özer, Ay?e B.; Bayar, Mustafa K.; Erhan, Ömer L.

    2014-01-01

    Objective The aim of this study was to retrospectively evaluate the intensive care unit treatments applied to obstetrics patients with a diagnosis of posterior reversible encephalopathy syndrome (PRES). Material and Methods The cases of 7 pregnant patients who had been diagnosed with PRES between July 2011 and July 2013 were retrospectively reviewed. The patients’ clinical data, brain magnetic resonance imaging (MRI) images before and after treatment, and neuropsychological tests were evaluated. Results Five out of 7 patients had eclampsia, 1 patient had severe preeclampsia, and 1 patient developed HELLP syndrome secondary to PRES. Calcium channel blockers and ?-blockers were used as antihypertensive treatment. All patients were treated with parenteral magnesium sulfate. In addition, sodium thiopental was given to control sedation and convulsions in all patients except 1. The neurological and radiological findings of all cases treated in the intensive care unit improved. Conclusion Posterior reversible encephalopathy syndrome is a clinical condition with a multifactorial etiology and can result in different clinical findings. Radiological imaging techniques can be used for the diagnosis of PRES. Pregnancy and the postpartum period often lead to this syndrome. In some cases, PRES can cause irreversible neurological deficits or death. For patients with severe radiological findings, early diagnosis and thiopental infusion, in addition to treatment with antihypertensive agents and magnesium sulfate, may lead to quicker and more effective recovery from clinical manifestations. We suggest supplementation of standard treatment with early thiopental infusion. PMID:25584029

  11. A case of Schnitzler's syndrome with nodular regenerative hyperplasia of the liver.

    PubMed

    Lauwers, A; Chouvy, V; Mosnier, J F; Misery, L; Alexandre, C

    1999-05-01

    Schnitzler's syndrome is a rare condition of urticaria, macroglobulinemia, and sclerotic bone lesions. We report a case in a 70-year-old man in whom inflammatory polyarthralgia was followed by a nonpruritic urticarial eruption with a moderate decline in general health. Laboratory tests showed inflammation and a modest isolated peak of monoclonal IgM kappa. There was no evidence of Waldenström macroglobulinemia. Schnitzler's syndrome was considered. However, an ultrasound scan of the abdomen done because of mild gamma-glutamyl-transferase elevation disclosed multiple hepatic lesions. The liver histology showed incipient nodular regenerative hyperplasia. Only about 30 cases of Schnitzler's syndrome have been reported since the seminal description in 1972. Hepatic involvement was a common but nonspecific finding, and we found no cases with nodular regenerative hyperplasia. However, this abnormality is often found in patients with autoimmune or hematological disorders. The pathogenesis of Schnitzler's syndrome remains unknown, but the possibility of progression to a hematological malignancy requires prolonged follow-up. PMID:10380261

  12. Different clinical presentation of the hyperimmunoglobulin D syndrome (HIDS) (four cases from Turkey).

    PubMed

    Tas, D?dem Arslan; D?nkc?, Suzan; Erken, Eren

    2012-05-01

    Hyperimmunoglobulin D syndrome (HIDS) is one of the autoinflammatory syndromes which are characterized by febrile attacks. Duration and frequency of the febrile attacks, as well as typical organ involvements vary greatly. Recently, it is possible to reach more reliable data by the possibilities that are opened up by molecular genetics in order to highlight the aetiopathogenesis of this group of diseases. Typical patients with HIDS have an onset of disease in the first year of life. Here, we report four Turkish HIDS cases; three of whom, the symptoms started at a later age. The diagnoses were made by relevant clinical symptoms along with MVK mutations detected by DNA sequencing method. As summarised in this article, HIDS could be presented with a broad spectrum of symptoms. Although most of the HIDS patients are reported from Europe and especially Dutch ancestry, case reports are presented from all over the world. For this reason, HIDS should be kept in mind for the differential diagnosis of periodic fever syndromes or before accepting an FMF patient as colchichine resistant. We suppose that the phenomenon of "later-onset HIDS" should shed light into unresolved clinical problems of patients with periodic fever. Especially in countries that FMF is more frequent such as Turkey, even though the symptoms start later than classic cases, HIDS should be kept in mind for differential diagnosis of periodic fever syndromes. PMID:22246419

  13. Bronchiolitis Obliterans Associated with Stevens-Johnson Syndrome: A Case Report

    PubMed Central

    Park, Hyungchul; Ko, Young Bo; Kwon, Hyouk-Soo

    2015-01-01

    We report a case of bronchiolitis obliterans associated with Stevens-Johnson syndrome. A 59-year-old man presented with respiratory distress that gradually worsened over 3 months. He had been diagnosed with Stevens-Johnson syndrome 3 months before admission. He had no history of previous airway disease. On physical examination, expiratory breathing sounds were not audible, and a chest X-ray revealed a hyperinflated lung. A pulmonary function test indicated a severe obstructive pattern. Computed tomography scans of inspiratory and expiratory phases of respiration showed oligemia and air trapping, and both were more prominent on expiration view than on inspiration view. The pathogenesis of bronchiolitis obliterans associated with Stevens-Johnson syndrome is largely unknown. PMID:25684012

  14. Bronchiolitis obliterans associated with Stevens-Johnson syndrome: a case report.

    PubMed

    Park, Hyungchul; Ko, Young Bo; Kwon, Hyouk-Soo; Lim, Chae-Man

    2015-03-01

    We report a case of bronchiolitis obliterans associated with Stevens-Johnson syndrome. A 59-year-old man presented with respiratory distress that gradually worsened over 3 months. He had been diagnosed with Stevens-Johnson syndrome 3 months before admission. He had no history of previous airway disease. On physical examination, expiratory breathing sounds were not audible, and a chest X-ray revealed a hyperinflated lung. A pulmonary function test indicated a severe obstructive pattern. Computed tomography scans of inspiratory and expiratory phases of respiration showed oligemia and air trapping, and both were more prominent on expiration view than on inspiration view. The pathogenesis of bronchiolitis obliterans associated with Stevens-Johnson syndrome is largely unknown. PMID:25684012

  15. Birt-hogg-dubé syndrome, a rare case in Korea confirmed by genetic analysis.

    PubMed

    Shin, Won Woong; Baek, Yoo Sang; Oh, Tae Seok; Heo, Young Soo; Son, Soo Bin; Oh, Chil Hwan; Song, Hae Jun

    2011-10-01

    Simple benign tumors can present as part of a syndrome with substantial mortality. Fibrofolliculomas are benign skin tumors most often associated with the Birt-Hogg-Dubé syndrome (BHDS). The most life-threatening complication of this syndrome is renal cancer and other major features include multiple lung cysts and spontaneous pneumothorax. We present the case of a 54 year-old man with multiple flesh-colored papules on his face confirmed histologically as fibrofolliculomas. He had a history of recurrent pneumothorax and chest computed tomography showed multiple lung cysts. To confirm the diagnosis of BHDS, we conducted gene analysis that revealed a single nucleotide duplication in the folliculin (FLCN) gene (Exon 11, C.1285dupC). BHDS confirmed by the FLCN gene mutation is rarely reported in Korea. Appropriate investigation is recommended whenever a patient with benign skin tumors is encountered. PMID:22148048

  16. Birt-Hogg-Dubé Syndrome, a Rare Case in Korea Confirmed by Genetic Analysis

    PubMed Central

    Shin, Won Woong; Baek, Yoo Sang; Oh, Tae Seok; Heo, Young Soo; Son, Soo Bin; Oh, Chil Hwan

    2011-01-01

    Simple benign tumors can present as part of a syndrome with substantial mortality. Fibrofolliculomas are benign skin tumors most often associated with the Birt-Hogg-Dubé syndrome (BHDS). The most life-threatening complication of this syndrome is renal cancer and other major features include multiple lung cysts and spontaneous pneumothorax. We present the case of a 54 year-old man with multiple flesh-colored papules on his face confirmed histologically as fibrofolliculomas. He had a history of recurrent pneumothorax and chest computed tomography showed multiple lung cysts. To confirm the diagnosis of BHDS, we conducted gene analysis that revealed a single nucleotide duplication in the folliculin (FLCN) gene (Exon 11, C.1285dupC). BHDS confirmed by the FLCN gene mutation is rarely reported in Korea. Appropriate investigation is recommended whenever a patient with benign skin tumors is encountered. PMID:22148048

  17. A case of erythema nodosum and serositis associated with myelodysplastic syndrome.

    PubMed

    Choi, Jung-Hye; Ahn, Myung-Ju; Park, Yong-Wook; Oh, Ho-Suk; Lee, Young-Yeul; Kim, In-Soon

    2005-06-01

    Myelodysplastic syndrome (MDS) is a heterogenous group of stem cell disorders usually characterized by progressive refractory cytopenias, which could progress to acute myeloid leukemia. MDS may be associated with a wide spectrum of skin lesions, including neoplastic cell infiltration, Sweet's syndrome, pyoderma gangrenosum, erythema elevatum diutinum, vasculitis, and panniculitis. However, erythema nodosum is rarely associated with MDS. Unusual rheumatologic manifestations in patients with MDS also have been reported, which range from asymptomatic serological abnormalities to classic connective tissue disorders such as Sjögren's syndrome, relapsing polychondritis, systemic lupus erythematosus, rheumatoid arthritis and mixed connective tissue disease. However, concurrent erythema nodosum and serositis has rarely been reported. We describe a case of MDS with erythema nodosum and immune-mediated pericardial effusion in a 34-year-old woman. PMID:16134776

  18. Reverse or inverted apical ballooning in a case of refeeding syndrome

    PubMed Central

    Robles, Pablo; Monedero, Isabel; Rubio, Amador; Botas, Javier

    2015-01-01

    Takotsubo cardiomyopathy is characterized by the development of transient left ventricular regional wall motion abnormalities, in the absence of significant coronary artery obstruction. This syndrome usually occurs in women and is frequently associated with an intense emotional or physical stress. It usually involves apical segments, but in the recent years atypical forms have been described. Inverted or reverse Takotsubo is a variant in which the basal and midventricular segments are hypokinetic, sparing contractile function of the apex. In this report we describe the case of a 54-year-old woman, with chronic malnutrition, initially admitted because of hypoglycemia and severe electrolyte disturbance due to a refeeding syndrome. Within the next hours she experienced acute cardiac symptoms and developed heart failure with low cardiac output. Electrocardiogram (ECG), elevation of troponin and echocardiographic findings were consistent with inverted Takotsubo cardiomyopathy. To the best of our knowledge, this is the first incidence reported of inverted Takotsubo triggered by refeeding syndrome. PMID:26131342

  19. A rare case of Ramsay Hunt syndrome following temporomandibular joint surgery.

    PubMed

    Lehman, H; Rushinek, H

    2015-08-01

    Surgical approaches to the temporomandibular joint (TMJ) have been designed specifically to minimize injury to the temporal branch of the facial nerve. In spite of this, facial nerve dysfunction occurs in 1-32% of patients undergoing TMJ surgery. Ramsay Hunt syndrome is characterized by peripheral facial paralysis that often involves other cranial nerves, mostly cranial nerve VIII. The pathology is attributed to the reactivation of latent varicella zoster virus in the geniculate ganglion. The diagnosis is based mostly on history and physical findings. Surgical procedures have been known to reactivate varicella zoster virus, but Ramsay Hunt syndrome subsequent to TMJ surgery has not been described yet. This report describes a case of Ramsay Hunt syndrome associated with TMJ surgery. Because of the relatively high incidence of facial nerve dysfunction associated with TMJ surgery, patients with varicella zoster virus reactivation may initially be misdiagnosed with iatrogenic facial palsy, or vice versa. PMID:25864001

  20. The Dermatological Manifestations of Postural Tachycardia Syndrome: A Review with Illustrated Cases.

    PubMed

    Huang, Hao; Hohler, Anna DePold

    2015-10-01

    Postural tachycardia syndrome (POTS) is a syndrome of excessive tachycardia with orthostatic challenge, and relief of such symptoms with recumbence. There are several proposed subtypes of the syndrome, each with unique pathophysiology. Numerous symptoms such as excessive tachycardia, lightheadedness, blurry vision, weakness, fatigue, palpitations, chest pain, and tremulousness are associated with orthostatic intolerance. Other co-morbid conditions associated with POTS are not clearly attributable to orthostatic intolerance. These include chronic headache, fibromyalgia, functional gastrointestinal or bladder disorders, cognitive impairment, and sleep disturbances. Dermatological manifestations of POTS are also common and wide ranging, from livedo reticularis to Raynaud's phenomenon, from cutaneous flushing to erythromelalgia. Here, we provide three illustrative cases of POTS with dermatological manifestations. We discuss the potential pathophysiology underlying such dermatological manifestations, and how such mechanisms could in turn help guide development of management. PMID:26242228

  1. Juvenile polyposis with macrocephaly and mental retardation (? Ruvalcava-Myhre-Smith syndrome)--a case report.

    PubMed

    Nandini, N M; Singh, Th Bipin; Kumar, Anil; Nandeesh

    2004-07-01

    A male child aged one and a half years with a history of rectal bleeding, on examination was found to have severe degree of anaemia with grade -III protein-energy-malnutrition and pneumonia. Colonoscopy revealed features of colonic polyposis. An upper gastro-intestinal endoscopy showed a duodenal polyp while barium meal follow-through did not reveal any polyps in the small intestine. Total colectomy and ileo-rectal anastomosis was done. Following histopathological study, the diagnosis of Juvenile polyposis syndrome was made, a very rare entity and is known to lead to adenocarcinoma of the gastrointestinal tract. In addition the child was found to have macrocephaly and mental retardation. The rarity and importance of the diagnosis of juvenile polyposis syndrome associated with macrocephaly and mental retardation (?Ruvalcava-Myhre-Smith syndrome) prompted the documentation of this case. PMID:16295443

  2. Spontaneously resolving cerebellar syndrome as a sequelae of dengue viral infection: a case series from Sri Lanka.

    PubMed

    Weeratunga, Praveen N; Caldera, H P Manjula C; Gooneratne, I Kishara; Gamage, Ranjanie; Perera, W Sujith P; Ranasinghe, Gayan V; Niraj, Mahboob

    2014-06-01

    Sri Lanka is hyperendemic for dengue viral infection. Dengue has a wide spectrum of neurological manifestations including previously reported Sri Lankan cases with a 6th nerve palsy and a cerebellar syndrome from a co-infection with dengue and Epstein-Barr virus. This series describes a spontaneously resolving cerebellar syndrome following a dengue viral infection. Dengue is potentially an important cause of cerebellar syndromes in countries hyperendemic for the disease; patients need further studies to identify the responsible serotypes. PMID:23840070

  3. Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature

    PubMed Central

    Carlson, M; Silberbach, M

    2007-01-01

    Girls and women with Turner syndrome are at risk for catastrophic aortic dissection and rupture, but the clinical profile for those at risk is not well described. In addition to reporting two new cases, we performed an electronic search to identify all reported cases of aortic dissection associated with Turner syndrome. Particular attention was paid to the reporting of systemic hypertension (HTN) and congenital heart disease (CHD) which are known risk factors for aortic disease in the general population. In total, 85 cases of aortic dissection in TS were reported between 1961 and 2006. Dissection occurred at a young age, 30.7 (range 4–64)?years, which is significantly earlier than its occurrence in the general female population (68?years). Of the cases for which HTN and CHD were explicitly assessed, 15% had HTN alone, 30% had CHD alone and 34% had both. Importantly, in 11% of the cases, neither HTN nor CHD were identified, suggesting that TS alone is an independent risk factor for aortic dissection; however, the cases where no risk factors were identified were very poorly documented. Dissection in women with TS undergoing assisted reproductive techniques (ART) frequently resulted in death. The literature on aortic dissection in TS is sparse and most cases are poorly documented, making it difficult to establish firm guidelines regarding monitoring and treatment. A TS aortic dissection registry has been established to better determine the natural history and risk factors (http://www.tssus.org/readweb.asp?wid?=?3092). PMID:17873120

  4. Minimally invasive surgery for superior mesenteric artery syndrome: A case report.

    PubMed

    Yao, Si-Yuan; Mikami, Ryuichi; Mikami, Sakae

    2015-12-01

    Superior mesenteric artery (SMA) syndrome is defined as a compression of the third portion of the duodenum by the abdominal aorta and the overlying SMA. SMA syndrome associated with anorexia nervosa has been recognized, mainly among young female patients. The excessive weight loss owing to the eating disorder sometimes results in a reduced aorto-mesenteric angle and causes duodenal obstruction. Conservative treatment, including psychiatric and nutritional management, is recommended as initial therapy. If conservative treatment fails, surgery is often required. Currently, traditional open bypass surgery has been replaced by laparoscopic duodenojejunostomy as a curative surgical approach. However, single incision laparoscopic approach is rarely performed. A 20-year-old female patient with a diagnosis of anorexia nervosa and SMA syndrome was prepared for surgery after failed conservative management. As the patient had body image concerns, a single incision laparoscopic duodenojejunostomy was performed to achieve minimal scarring. As a result, good perioperative outcomes and cosmetic results were achieved. We show the first case of a young patient with SMA syndrome who was successfully treated by single incision laparoscopic duodenojejunostomy. This minimal invasive surgery would be beneficial for other patients with SMA syndrome associated with anorexia nervosa, in terms of both surgical and cosmetic outcomes. PMID:26668518

  5. Minimally invasive surgery for superior mesenteric artery syndrome: A case report

    PubMed Central

    Yao, Si-Yuan; Mikami, Ryuichi; Mikami, Sakae

    2015-01-01

    Superior mesenteric artery (SMA) syndrome is defined as a compression of the third portion of the duodenum by the abdominal aorta and the overlying SMA. SMA syndrome associated with anorexia nervosa has been recognized, mainly among young female patients. The excessive weight loss owing to the eating disorder sometimes results in a reduced aorto-mesenteric angle and causes duodenal obstruction. Conservative treatment, including psychiatric and nutritional management, is recommended as initial therapy. If conservative treatment fails, surgery is often required. Currently, traditional open bypass surgery has been replaced by laparoscopic duodenojejunostomy as a curative surgical approach. However, single incision laparoscopic approach is rarely performed. A 20-year-old female patient with a diagnosis of anorexia nervosa and SMA syndrome was prepared for surgery after failed conservative management. As the patient had body image concerns, a single incision laparoscopic duodenojejunostomy was performed to achieve minimal scarring. As a result, good perioperative outcomes and cosmetic results were achieved. We show the first case of a young patient with SMA syndrome who was successfully treated by single incision laparoscopic duodenojejunostomy. This minimal invasive surgery would be beneficial for other patients with SMA syndrome associated with anorexia nervosa, in terms of both surgical and cosmetic outcomes. PMID:26668518

  6. Mining temporal data sets: hypoplastic left heart syndrome case study

    NASA Astrophysics Data System (ADS)

    Kusiak, Andrew; Caldarone, Christopher A.; Kelleher, Michael D.; Lamb, Fred S.; Persoon, Thomas J.; Gan, Yuan; Burns, Alex

    2003-03-01

    Hypoplastic left heart syndrome (HLHS) affects infants and is uniformly fatal without surgery. Post-surgery mortality rates are highly variable and dependent on postoperative management. The high mortality after the first stage surgery usually occurs within the first few days after procedure. Typically, the deaths are attributed to the unstable balance between the pulmonary and systemic circulations. An experienced team of physicians, nurses, and therapists is required to successfully manage the infant. However, even the most experienced teams report significant mortality due to the extremely complex relationships among physiologic parameters in a given patient. A data acquisition system was developed for the simultaneous collection of 73 physiologic, laboratory, and nurse-assessed variables. Data records were created at intervals of 30 seconds. An expert-validated wellness score was computed for each data record. A training data set consisting of over 5000 data records from multiple patients was collected. Preliminary results demonstratd that the knowledge discovery approach was over 94.57% accurate in predicting the "wellness score" of an infant. The discovered knowledge can improve care of complex patients by development of an intelligent simulator that can be used to support decisions.

  7. Floppy iris syndrome with oral imipramine: a case series.

    PubMed

    Gupta, Arvind; Srinivasan, Renuka

    2012-01-01

    Intraoperative floppy iris syndrome (IFIS) has commonly been seen with long-term use of ?1-adrenoceptor blocking agents. We observed IFIS in three patients during phacoemulsification due to oral imipramine therapy. The three patients took imipramine for 25 years, 10 months and 1 year, respectively. However, only the first patient was on oral therapy at the time of surgery, while the other two patients had stopped 4 months and 2 months prior to undergoing phacoemulsification. The first and third patients developed complete IFIS features, while the second had only partial IFIS characteristics. Phacoemulsification could be completed in all three patients without any complication. None of these patients had history of taking any of the ?1-adrenoceptor blocking agents. This is the first anecdotal report of IFIS with the oral use of imipramine and hence further evidences are required to ascertain the association of oral imipramine therapy and IFIS. However, ophthalmologists undertaking phacoemulsification on patients on imipramine therapy should be alert for the occurrence of IFIS. PMID:22446911

  8. Neurological Manifestations in Parry–Romberg Syndrome: 2 Case Reports

    PubMed Central

    Vix, Justine; Mathis, Stéphane; Lacoste, Mathieu; Guillevin, Rémy; Neau, Jean-Philippe

    2015-01-01

    Abstract Parry–Romberg syndrome (PRS) is a variant of morphea usually characterized by a slowly progressive course. Clinical and radiological involvement of the central nervous system may be observed in PRS. We describe 2 patients with PRS and neurological symptoms (one with trigeminal neuralgia associated with deafness, and the second with hemifacial pain associated with migraine without aura) in conjunction with abnormal cerebral MRI including white matter T2 hyperintensities and enhancement with gadolinium. Despite the absence of specific immunosuppressive treatments, both patients have presented stable imaging during follow-up without any clinical neurologic progression. We have performed a large review of the medical literature on patients with PRS and neurological involvement (total of 129 patients) Central nervous system involvement is frequent among PRS patients and is inconsistently associated with clinical abnormalities. These various neurological manifestations include seizures, headaches, movement disorders, neuropsychological symptoms, and focal symptoms. Cerebral MRI may reveal frequent abnormalities, which can be bilateral or more often homolateral to the skin lesions, localized or so widespread so as to involve the whole hemisphere: T2 hyperintensities, mostly in the subcortical white matter, gadolinium enhancement, brain atrophy, and calcifications. These radiological lesions do not usually progress over time. Steroids or immunosuppressive treatments are controversial since it remains unclear to what extent they are beneficial and there is often no neurological progression. PMID:26181554

  9. [Non-surgical treatment in case of obstructive sleep apnea syndrome in children. Report of a case].

    PubMed

    Avila Castañón, Lourdes; Alvidrez, Rafael; Espinola Reyna, Gerardo; Sienra Monge, Juan José Luis; del Río Navarro, Blanca

    2003-01-01

    Consequences of obstructive sleep apnea syndrome in children include reduced performance during day, behaviour problems, diurmal hypersomnia, psychomotor development delay, severe forms of cor pulmonale, systemic hypertension, growing delay and death. This paper describes the clinical case of a 3-year-old girl with perennial symptoms of nasal obstruction characterized by nocturnal snoring, oral breathing, nasal voice, sleep apnea, nasal pruritus and rhinorrhea. Her treatment is also described. PMID:14968987

  10. A Report of an Adult Case of Tubulointerstitial Nephritis and Uveitis (TINU) Syndrome, with a Review of 102 Japanese Cases

    PubMed Central

    Matsumoto, Keiichiro; Fukunari, Kenichi; Ikeda, Yuji; Miyazono, Motoaki; Kishi, Tomoya; Matsumoto, Ryoko; Fukuda, Makoto; Ichiumi, Saori; Yoshizaki, Mai; Nonaka, Yasunori; Kanaya, Akiko

    2015-01-01

    Patient: Female, 44 Final Diagnosis: Tubulointerstitial nephritis • uveitis syndrome Symptoms: — Medication: Loxoprofen sodium hydrate Clinical Procedure: Renal biopsy Specialty: Nephrology Objective: Rare disease Background: Although TINU syndrome is characterized by idiopathic TIN with bilateral anterior uveitis, few reports have provided a comprehensive summary of the features of this disorder. Previous reports have suggested that many Japanese patients had HLA-A2 and -A24 (7), but there is no evidence. Case Report: A 44-year-old female was referred to our hospital due to renal dysfunction in March 2012. After admission, her symptoms improved spontaneously without medication within 2 weeks. In the outpatient clinic, she was diagnosed with idiopathic bilateral anterior uveitis in May, and her renal dysfunction relapsed in November. A renal biopsy showed diffuse TIN. We made a diagnosis of TINU syndrome because we could not explain the origin, and treated her with a systemic corticosteroid. Her renal function and ocular symptoms have been improving. The patient had HLA-A24, -B7, -DR1, -C*07: 02 and -DQB1*05: 01: 01. We collected 102 Japanese cases in PubMed, Ovid MEDLINE, and the Japanese Medical Abstracts Society and compared our case with the previous cases. Conclusions: This disorder affects primarily young females (median age, 14 years), and the most common symptom is fever (44/102 cases). We conducted a statistical analysis using contingency table and Pearson’s chi-square test, for HLA-A2 and A24, and calculated the odds ratio (OR). There are no significant differences (A2 was present in 7/22 cases and in 19/50 controls, p value (P) 0.61, OR 0.76 (95% confidence interval (CI)) 0.27–2.2; A24 was present in 10/22 cases and in 33/50 controls, P 0.10, OR 0.43, CI 0.16–1.2). PMID:25725230

  11. [Difficulties in diagnosis of frontal syndrome in epileptic children: clinical, diagnostic, physiopathological aspects. Apropos of 6 cases].

    PubMed

    Septien, L; Brenot, M; Giroud, M; Gras, P; Nivelon, J L; Dumas, R

    1992-01-01

    The authors report 6 cases of acute frontal syndrome following severe seizures of frontal origin. The study of the 6 cases shows the place of disorders in affectivity, behavior, judgement and motor activity; such features changing over time. The relationship between the frontal syndrome and epilepsy is suggested by the fact that the frontal syndrome appears after an increased frequency of frontal seizures, with prolonged discharges of generalized or frontal spikes. The frontal syndrome disappears slowly with the epileptic discharges, and no frontal lesion is found on CT-Scan. Such cases suggest that the frontal syndrome is functional, linked to the localization of the epileptic discharges; it may be regarded as a post-critic deficit, and must be differentiated from a post-critic delirium or a psychotic state. PMID:1329013

  12. Two cases with HSS/DRESS syndrome developing after prosthetic joint surgery: does vancomycin-laden bone cement play a role in this syndrome?

    PubMed

    Güner, Müberra Devrim; Tuncbilek, Semra; Akan, Burak; Caliskan-Kartal, Aysun

    2015-01-01

    We report two cases of hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms (HSS/DRESS) syndrome following systemic and local (via antibiotic laden bone cement (ALBC)) exposures to vancomycin. Both cases developed symptoms 2-4?weeks after the initiation of treatment. They responded to systemic corticosteroid treatment and were cured completely. Various drug groups may cause HSS/DRESS syndrome, and vancomycin-related cases do not exceed 2-5% of the reported cases. Almost all of these cases developed the syndrome following systemic exposure to vancomycin. ALBC seems to be the safer antibiotic administration method, as systemic antibiotic levels did not reach a toxic threshold level. However, local administration may not always be sufficient for bone-related/joint-related infections; these infections may require systemic antibiotics as well. As HSS/DRESS syndrome can mimic infectious diseases, it must be considered during differential diagnosis before suspecting failure of treatment and initiation of a different antibiotic course. PMID:26021379

  13. Novel Loci for Non-Syndromic Coarctation of the Aorta in Sporadic and Familial Cases

    PubMed Central

    Dittrich, Sven; Rüffer, André; Ekici, Arif B.; Toka, Okan

    2015-01-01

    Backround Coarctation of the aorta (CoA) accounts for 5-8% of all congenital heart defects. CoA can be detected in up to 20% of patients with Ullrich-Turner syndrome (UTS), in which a part or all of one of the X chromosomes is absent. The etiology of non-syndromic CoA is poorly understood. In the present work, we test the hypothesis that rare copy number variation (CNV) especially on the gonosomes, contribute to the etiology of non-syndromic CoA. Methods We performed high-resolution genome-wide CNV analysis using the Affymetrix SNP 6.0 microarray platform for 70 individuals with sporadic CoA, 3 families with inherited CoA (n=13) and 605 controls. Our analysis comprised genome wide association, CNV burden and linkage. CNV was validated by multiplex ligation-dependent probe amplification. Results We identified a significant abundance of large (>100 kb) CNVs on the X chromosome in males with CoA (p=0.005). 11 out of 51 (~ 22%) male cases had these large CNVs. Association analysis in the sporadic cohort revealed 14 novel loci for CoA. The locus on 21q22.3 in the sporadic CoA cohort overlapped with a gene locus identified in all familial cases of CoA (candidate gene TRPM2). We identified one CNV locus within a locus with high multipoint LOD score from a linkage analysis of the familial cases (SEPT9); another locus overlapped with a region implicated in Kabuki syndrome. In the familial cases, we identified a total of 7 CNV loci that were exclusively present in cases but not in unaffected family members. Conclusion Of all candidate loci identified, the TRPM2 locus was the most frequently implicated autosomal locus in sporadic and familial cases. However, the abundance of large CNVs on the X chromosome of affected males suggests that gonosomal aberrations are not only responsible for syndromic CoA but also involved in the development of sporadic and non-syndromic CoA and their male dominance. PMID:25984793

  14. Gingival fibromatosis and growth hormone deficiency syndrome--report of a rare case and review of literature.

    PubMed

    Radhakrishnan, S; Rajan, P

    2003-01-01

    Oikarinen et al in 1989 reported a syndrome associated with generalized gingival fibromatosis and growth hormone deficiency. This is a case report of a 15-year-old female patient who presented to the Government Dental College, Chennai with generalized gingival fibromatosis and growth hormone deficiency. Interestingly, the histopathology of the excised gingival overgrowth showed dense collagenous connective tissue in which were strewn calcified structures that resembled cementum. This syndrome is being reported for the second time after its first case report in 1989 by Oikarinen et al. We are herewith reporting this case for its rarity with a brief review of literature of syndromes associated with generalized gingival fibromatosis. PMID:15164660

  15. The thalassemia syndromes: lessons from molecular medicines index case.

    PubMed

    Benz, E J

    1996-01-01

    The thalassemia syndromes were the first of human diseases to become thoroughly examined for the underlying molecular lesions by the application of molecular genetic strategies and recombinant DNA methods. Students of thalassemia have now enjoyed over two decades of experience with this research paradigm. These experiences reveal both the awesome power and the limitations of the "reductionist, deterministic" approach of gene cloning and analysis. Incredibly precise and abundant information about the exact molecular lesions responsible for various forms of thalassemia were rapidly obtained by the use of molecular genetic approaches. The mechanisms by which these mutations deranged globin gene expression could be documented with extraordinary precision and efficiency. Precise, powerful methods for detecting disease early in fetal life were rapidly developed, made practical for field use, and disseminated widely. This resulted in a dramatic reduction in the incidence of new births of patients with homozygous beta thalassemia. These experiences demonstrate the extraordinary impact that recombinant DNA technology has upon our ability to understand disease processes, to detect disease long before its phenotypic expression is apparent, and to influence the prevalence of the abnormal alleles in the population. Experience with the antenatal diagnosis of the thalassemias also demonstrates, and should alert us to, the relative ease with which genetic information can be applied to societal and governmental initiatives to alter the reproductive behavior of individuals. While the benefits of reducing the incidence of beta thalassemia are clearcut, application of the strategies that were applied in this narrow situation to broader aspects of disease or genetic manipulation does raise concerns. The thalassemia syndromes demonstrate that genetic information does have more than a theoretical potential to have a major impact upon society. The struggles of many investigators to develop effective pharmacologic agents for the treatment of hemoglobinopathies have also revealed some of the limitations of an isolated molecular approach to the understanding of disease. The tortuous course by which a class of reagents has been identified for stimulation of HbF synthesis illustrates an important point. The application of recombinant DNA methods revealed an entirely new array of pathophysiologic facts that stimulated new hypotheses about the regulation of gene expression and opportunities to manipulate that regulation therapeutically. However, practical application and proper understanding of the molecular information were achieved only when those data were placed in the context of cell biology, tissue and organ-based clinical pathophysiology, and clinical pharmacology. Progress was possible only because of the productive interaction of talented individuals with expertise in these different fields. Our two decades of experience with the thalassemias illustrate very clearly the fact that biology and disease are extraordinarily complex, non-deterministic processes. They will be understood and treated properly only if thriving centers exist within which individuals with diverse interests, expertise, and perspectives about basic science and clinical medicine can exist, interact, and have sufficient time to employ their imaginations to the fullest benefit. PMID:8725557

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

    PubMed Central

    Brooke, H.; Gibson, A.; Tappin, D.; Brown, H.

    1997-01-01

    OBJECTIVE: To investigate the relation between routine infant care practices and the sudden infant death syndrome in Scotland. METHODS: National study of 201 infants dying of the sudden infant death syndrome (cases) and 276 controls by means of home interviews comparing methods of infant care and socioeconomic factors. RESULTS: Sleeping prone (odds ratio 6.96 (95% confidence interval 1.51 to 31.97) and drug treatment in the previous week (odds ratio 2.33 (1.10 to 4.94)) were more common in the cases than controls on multivariate analysis. Smoking was confirmed as a significant risk factor (odds ratio for mother and father both smoking 5.19 (2.26 to 11.91)). The risk increased with the number of parents smoking (P < 0.0001), with the number of cigarettes smoked by mother or father (P = 0.0001), and with bed sharing (P < 0.005). A new finding was an increased risk of dying of the syndrome for infants who slept at night on a mattress previously used by another infant or adult (odds ratio 2.51 (1.39 to 4.52)). However, this increased risk was not established for mattresses totally covered by polyvinyl chloride. CONCLUSIONS: Sleeping prone and parental smoking are confirmed as modifiable risk factors for the sudden infant death syndrome. Sleeping on an old mattress may be important but needs confirmation before recommendations can be made. PMID:9169398

  17. Acute intussusception and polyp with malignant transformation in Peutz-Jeghers syndrome: A case report

    PubMed Central

    YU, JUAN; JIANG, WEI

    2015-01-01

    Intussusception is one of the most frequent complications of Peutz-Jeghers syndrome, and has been well described in previous studies. More attention has been paid to malignancy, which is another complication of Peutz-Jeghers syndrome and which leads to increased mortality. Few cases of intussusception combined with malignant polyps in Peutz-Jeghers syndrome have been reported to date. In the present study, we report a case of intussusception and malignant polyps occurring in various parts of the small intestine in a 43-year-old male. In addition to repair of the intussusception and partial resection of the small intestine with malignant polyps, we also simultaneously performed polypectomy of as many polyps as possible without resection of the small intestine. Our aim is to make clinicians aware of intussusception and malignant polyps coexisting in Peutz-Jeghers syndrome when performing emergency surgery. Prophylaxis and polypectomy of the entire small bowel is an effective way to reduce the frequency of laparotomies in patients with this disease.

  18. A Case Report of Klinefelter Syndrome with Schizophrenia-Like Psychosis and Seizure Disorder

    PubMed Central

    Jayaraman, Anu Rita; Poguri, Maithreyi; Siva, Nambi

    2015-01-01

    Klinefelter syndrome is a disorder of variation of sex chromosome, the most common karyotype being 47XXY. Multiple case reports and articles have been published linking the increased prevalence of psychiatric disorders like Schizophrenia, Schizophreniform psychosis, Attention deficit hyperkinetic disorder, Learning disorder, etc. and seizure disorder in Klinefelter syndrome than in general population, attributing to the extra X chromosome. Here is a case of a 45-year-old gentleman with Klinefelter syndrome with schizophrenia-like psychosis and seizure disorder. He was diagnosed as Klinefelter syndrome 15 years back by genetic testing (47XXY) when he was investigated for infertility. His luteinizing hormone (LH) (32.04 mIU/ml) and follicle-stimulating hormone (FSH) (50.70 mIU/ml) levels were high and his testosterone level was low (1.76 ng/ml). He had four episodes of seizures in 2004 for which he was started on phenytoin and sodium valproate, and was seizure-free for past 10 years. He was brought to our hospital in July 2014 with complaints of talking and laughing to self, suspicion, hearing voices and aggressive behaviour, which were persistent mildly for past 15 years and aggravated for past 6 months. He was not going for work for past 15 years, does not mingle with relatives or friends. PMID:26664093

  19. One-stage surgical treatment for Cantrell syndrome without repairing the left ventricular diverticulum: a case report.

    PubMed

    Yang, Yang; Jiang, Zhaolei; Ding, Fangbao

    2016-01-01

    Cantrell syndrome includes the defects of the heart, pericardium, diaphragm, abdominal wall, and sternum. The operative mortality is usually high. We report here a one-stage surgical correction in a case of Cantrell syndrome with left ventricular diverticulum. PMID:25880315

  20. Restless Legs Syndrome: A Unique Case and Essentials of Diagnosis and Treatment

    PubMed Central

    Agarwal, Pinky; Griffith, Alida

    2008-01-01

    Restless legs syndrome (RLS) is a common, poorly understood movement disorder that can cause significant sleep disruption. RLS is characterized by uncomfortable sensations deep in the legs, relieved only by voluntary movement. Differential diagnosis includes peripheral neuropathy, leg cramps, and akathesia. Although RLS is familial in 50% of cases, secondary etiologies can be medically important, such as iron deficiency anemia and renal failure. We report a rare case of RLS associated with hyperparathyroidism. To our knowledge, only 1 other case of hyperparathyroid-related RLS has been described. PMID:19242602

  1. [Kikuchi-Fujimoto's syndrome in ENT: a case report].

    PubMed

    Fernández Pérez, A; Fernández Nogueras Jiménez, F; Moreno León, J A; Rubí Uría, J; Fernández Sánchez, A; Bolívar Núñez, J C

    1995-01-01

    Kikuchi-Fujimoto disease (KFD) is a rare entity of uncertain cause which commonly presents as a lymphoadenopathy unresponsive to antibiotic therapy. Although usually it follows a benign self-limited course KFD has been repeatedly misdiagnosed as lymphoma. With this new case data about the etiology and clinical trend of KFD are added. Review of the literature. PMID:7710013

  2. Van der Woude syndrome: A review of 11 cases seen at the Lagos University Teaching Hospital

    PubMed Central

    James, Olutayo; Adeyemo, Wasiu L.; Emeka, Christian I.; Ogunlewe, Mobolanle O.; Ladeinde, Akinola L.; Butali, Azeez

    2014-01-01

    Background Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits and is caused by mutations in interferon regulatory factor six gene. It is reported to be the most common syndromic cleft worldwide. Non-penetrance for the lip pit phenotype is found in at least 10% of affected individuals and those without the pits are phenocopies for non-syndromic clefting. The aim of this study is to present the phenotypic characteristic of VWS seen at the Lagos University Teaching Hospital (LUTH) cleft clinic. Materials and Methods A review of cases of patients with VWS that attended the cleft lip and palate clinic at the LUTH Idi-Araba, Lagos, from January 2007 to December 2012 was conducted. Data analyses included sex of affected patients, types of cleft, presence of lower lip pits and history of lower lip pits/cleft in the family. Results A total of 11 cases were seen during the period (male = 4; female = 7). Age at presentation ranged between 1 week and 12 years, with majority (n = 10) less than 2 years of age. Bilateral cleft lip and palate (BCLP) was seen in six patients, isolated soft palatal cleft (n = 3) and unilateral cleft lip and alveolus (n = 1) and cleft of hard and soft palate (n = 1). Bilateral lower lips were presented in 10 out of the 11 cases. The mother of the only patient without lip pits presented with bilateral lower lip pits. No family history of cleft/lip pits was elicited in 10 other cases. Conclusion Most of the cases of VWS presented with BCLP and lower lip pits. Non-penetrance for the lip pits was seen in one out of 11 cases. Our study emphasizes the need to screen family members in all cleft cases, especially clinically diagnosed non-syndromic cases who may be VWS with no lip pits. Future studies are required to investigate the genetic causes of this syndrome in our population. PMID:24647295

  3. Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis.

    PubMed

    Marlin, S; Ducou Le Pointe, H; Le Merrer, M; Portnoi, M F; Chantot, S; Jonard, L; Mantel-Guiochon, A; Siffroi, J P; Garabedian, E N; Denoyelle, F

    2010-06-01

    Cerebral, ocular, dental, auricular, skeletal syndrome (CODAS, OMIM 600373) is a very rare congenital malformation syndrome. This clinical entity is highly distinctive and associates mental retardation, cataract, enamel abnormalities, malformations of the helix, epiphyseal and vertebral malformations, and characteristic dysmorphic features. Since 1991, only three affected children have been reported. The etiology and pattern of inheritance of CODAS syndrome still remain unknown. We describe a new sporadic case presenting with all the characteristic features of CODAS syndrome associated with previously unreported malformations of the heart, larynx, and liver. All investigations such as karyotype, metabolic screening and array CGH were normal. PMID:20503327

  4. Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*

    PubMed Central

    Zhou, Xiao-Ping; Woodford-Richens, Kelly; Lehtonen, Rainer; Kurose, Keisuke; Aldred, Micheala; Hampel, Heather; Launonen, Virpi; Virta, Sanno; Pilarski, Robert; Salovaara, Reijo; Bodmer, Walter F.; Conrad, Beth A.; Dunlop, Malcolm; Hodgson, Shirley V.; Iwama, Takeo; Järvinen, Heikki; Kellokumpu, Ilmo; Kim, J. C.; Leggett, Barbara; Markie, David; Mecklin, Jukka-Pekka; Neale, Kay; Phillips, Robin; Piris, Juan; Rozen, Paul; Houlston, Richard S.; Aaltonen, Lauri A.; Tomlinson, Ian P. M.; Eng, Charis

    2001-01-01

    Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were identified, JPS could easily be confused with other inherited hamartoma syndromes, such as Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Cowden syndrome (CS). Germline mutations of MADH4 (SMAD4) have been described in a variable number of probands with JPS. A series of familial and isolated European probands without MADH4 mutations were analyzed for germline mutations in BMPR1A, a member of the transforming growth-factor ?–receptor superfamily, upstream from the SMAD pathway. Overall, 10 (38%) probands were found to have germline BMPR1A mutations, 8 of which resulted in truncated receptors and 2 of which resulted in missense alterations (C124R and C376Y). Almost all available component tumors from mutation-positive cases showed loss of heterozygosity (LOH) in the BMPR1A region, whereas those from mutation-negative cases did not. One proband with CS/CS-like phenotype was also found to have a germline BMPR1A missense mutation (A338D). Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype. PMID:11536076

  5. Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases

    PubMed Central

    Kroes, I.; Janssens, S.; Defoort, P.

    2014-01-01

    Objective: To determine and list the variety of the predominant appeal signs leading to referral and their accompanying features found during specialized ultrasound evaluation in foetuses with trisomy 13 and trisomy 18. Materials and Methods: In a period of thirty years, 1110 cases of foetal malformations were detected during specialized echographic evaluation. 47 Of these cases were foetuses with trisomy 13 or trisomy 18. We evaluated the predominant signs leading to referral, the difference and overlap in presenting signs between both syndromes and when the data were available, we also compared the echographic signs with the foetal pathology. Results: In foetuses with trisomy 13 the most common malformations were craniofacial defects, cerebral malformations and genitourinary tract anomalies. The most common malformations associated with trisomy 18 were limb abnormalities and intrauterine growth restriction. Most malformations were predominant in trisomy 18, except for genitourinary tract anomalies. In most cases the sonographic signs correlated with the pathology findings. Conclusion: Trisomy 13 as well as trisomy 18 are characterized by a number of various malformations in the foetus. Most of the ultrasound features were predominant in foetuses with trisomy 18. Mostly the foetal pathology correlated with the sonographic evaluation. PMID:25593701

  6. [Lyell'a syndrome--two case presentations].

    PubMed

    K?os-Rola, Justyna; Mackiewicz, Jerzy; Zagórski, Zbigniew

    2009-01-01

    Clinical symptoms of toxic epidermal necrosis (TEN) include massive epidermolysis within skin and mucous membranes. Similar to extensive stage II burns, this may be a life-threatening condition. Patients with TEN are usually treated in specialized burn centers andlor surgery departments. Here we present and discuss 2 case reports of patients with ocular complications of TEN. The aim of this study is to emphasize the necessity of ophthalmic control and treatment during the early and late phase of TEN. PMID:21033418

  7. A pediatric case of severe fever with thrombocytopenia syndrome in Zhejiang Province, China.

    PubMed

    Ma, T; Sun, J M; Chen, L F; Shi, X G; Liu, K; Gong, Z Y; Chen, J; Zhang, R; Ren, J P; Jiang, J M

    2015-11-01

    This report describes a pediatric case of severe fever with thrombocytopenia syndrome (SFTS), which is an emerging disease that is caused by a novel bunyavirus. Interestingly, the previously reported SFTS cases typically involved elderly patients, while our case involved a 5-year-old child from Zhejiang Province, China. In this report, we describe our investigation of the clinical and epidemiological characteristics of this case, to improve our understanding of this emerging disease. Our principle finding was that the present case's clinical symptoms were milder than those that have been reported in adult cases of SFTS. Therefore, we recommend more careful screening of pediatric patients who present with mild symptoms that are consistent with SFTS. PMID:26469738

  8. Groin pain syndrome: an association of different pathologies and a case presentation

    PubMed Central

    Bisciotti, Gian Nicola; Auci, Alessio; Di Marzo, Francesco; Galli, Roberto; Pulici, Luca; Carimati, Giulia; Quaglia, Alessandro; Volpi, Piero

    2015-01-01

    Summary Background groin pain affects all types of athletes, especially soccer players. Many diseases with different etiologies may cause groin pain. Purpose offer a mini review of groin pain in soccer accompanied by the presentation of a case report highlighting the possible association of more clinical frameworks into the onset of groin pain syndrome, in order to recommend that clinical evaluations take into account possible associations between bone, muscle and tendon such as inguinal canal disease. Conclusion the multifactorial etiology of groin pain syndrome needs to be examined with a comprehensive approach, with standardized clinical evaluation based on an imaging protocol in order to evaluate all possible diseases. Study design Mini review- Case report (Level V). PMID:26605198

  9. The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

    PubMed

    Gurrieri, F; Pomponi, M G; Pietrobono, R; Lucci-Cordisco, E; Silvestri, E; Storniello, G; Neri, G

    2011-01-01

    The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later neoplasia. Psychomotor development is usually normal. The syndrome is caused by mutation/deletion of the X-linked gene GPC3. We describe a new case of SGBS, that led to the discovery of an extended family segregating a GPC3 mutation and, ultimately, of an affected relative forgotten, but not lost, in an anatomical museum, where he was classified as a macrosomic newborn, who was born probably around 1940 and died neonatally of unknown cause. This baby boy becomes the oldest case of SGBS on record. PMID:21204223

  10. Cardiovocal Syndrome (Ortner's Syndrome) Associated with Chronic Thromboembolic Pulmonary Hypertension and Giant Pulmonary Artery Aneurysm: Case Report and Review of the Literature

    PubMed Central

    Heikkinen, Jaakko; Milger, Katrin; Alejandre-Lafont, Enrique; Woitzik, Christian; Litzlbauer, Detlef; Vogt, Julia-Franziska; Klußmann, Jens Peter; Ghofrani, Ardeschir; Krombach, Gabriele A.; Tiede, Henning

    2012-01-01

    Cardiovocal syndrome or Ortner's syndrome is hoarseness due to left recurrent laryngeal nerve palsy caused by mechanical affection of the nerve from enlarged cardiovascular structures. Chronic thromboembolic pulmonary hypertension is extremely rarely found to cause this syndrome. We describe a case of a 56-year-old patient with sudden onset of hoarseness. The patient had known long standing severe pulmonary hypertension. Fiberoptic laryngoscopy showed left vocal cord palsy. Computed tomography of the neck and chest revealed extensive enlargement of the pulmonary arteries and excluded a malignant tumor. The diagnosis of cardiovocal syndrome was retained. It is important for the radiologist to be aware of this possible etiology causing left recurrent laryngeal nerve palsy and to understand its mechanism. PMID:23424588

  11. A syndromal and an isolated form of uterine arteriovenous malformations: two case-reports.

    PubMed

    Geerinckx, I; Willemsen, W; Hanselaar, T

    2001-12-10

    Uterine arteriovenous malformations are rare lesions with a considerable risk potential. Clinical presentation varies from no signs over various degrees of menorrhagia to massive life threatening vaginal bleeding. This is the first report of congenital uterine arteriovenous malformations in two patients with primary infertility. In one case, the uterine lesions were found in conjunction with other congenital malformations suggesting the diagnosis of hemihyperplasia/lipomatosis syndrome. Etiology, symptoms, diagnostic and therapeutic work-up are discussed; pathological findings are illustrated. PMID:11728664

  12. A Case of Solitary Fibrous Pleura Tumor Associated with Severe Hypoglycemia: Doege-Potter Syndrome

    PubMed Central

    Jang, Jong Geol; Hong, Kyung Soo; Ahn, June Hong; Lee, Jae Young; Jo, Jae Ho; Lee, Dong Won; Shin, Kyeong Cheol; Lee, Kwan Ho; Kim, Mi Jin; Lee, Jung Cheul; Lee, Jang Hoon; Lee, Jae Kyo

    2015-01-01

    Solitary fibrous tumor of the pleura (SFTP) is a rare primary intrathoracic tumor that arises from mesenchymal tissue underlying the mesothelial layer of the pleura. It usually has an indolent clinical course. The hypoglycemia that accompanies SFTP was first described by Doege and Potter independently in 1930, hence the eponym Doege-Potter syndrome (DPS). The incidence of DPS is reported to be ~4%. In this report, we present a typical case of DPS that was cured through complete surgical resection. PMID:25861346

  13. A Case of Upper Limb Compartment Syndrome following Snake Envenomation: Measure Twice, Cut Once.

    PubMed

    Thomas, D K; Budhoo, E J; Mencia, M M; Ali, T F; Santana, D

    2014-08-01

    We report a case of a 16-year old male patient who sustained a poisonous bite from a mapepire balsain snake on the dorsum of his left hand. The subject presented within one hour of envenomation and subsequently developed clinical features of acute compartment syndrome in the involved upper limb. Early diagnosis and emergency fasciotomy effectively treated his condition. Aggressive physiotherapy coupled with this ensured best functional outcome. PMID:25429488

  14. A Case of Upper Limb Compartment Syndrome following Snake Envenomation Measure Twice, Cut Once

    PubMed Central

    Thomas, DK; Budhoo, EJ; Mencia, MM; Ali, TF; Santana, D

    2014-01-01

    We report a case of a 16-year old male patient who sustained a poisonous bite from a mapepire balsain snake on the dorsum of his left hand. The subject presented within one hour of envenomation and subsequently developed clinical features of acute compartment syndrome in the involved upper limb. Early diagnosis and emergency fasciotomy effectively treated his condition. Aggressive physiotherapy coupled with this ensured best functional outcome. PMID:25429488

  15. Steven's Johnson syndrome with toxic epidermal necrolysis due to thalidomide in a case of multiple myeloma

    PubMed Central

    Das, Anupam; Sil, Amrita; Mishra, Vivek; Das, Nilay Kanti

    2014-01-01

    Thalidomide developed in 1954 for morning sickness had proven to be a teratogen and hence was withdrawn from market. Resurgence of thalidomide began as an immunomodulator when it was shown to be effective in the management of multiple myeloma and many conditions like erythema nodosum leprosum, graft versus host disease, recurrent aphthous ulcers etc. We report a case of Stevens Johnson syndrome-toxic epidermal necrolysis developing in an elderly male who was prescribed thalidomide after being diagnosed with multiple myeloma. PMID:25298592

  16. Zika virus infection complicated by Guillain-Barre syndrome--case report, French Polynesia, December 2013.

    PubMed

    Oehler, E; Watrin, L; Larre, P; Leparc-Goffart, I; Lastere, S; Valour, F; Baudouin, L; Mallet, Hp; Musso, D; Ghawche, F

    2014-01-01

    Zika fever, considered as an emerging disease of arboviral origin, because of its expanding geographic area, is known as a benign infection usually presenting as an influenza-like illness with cutaneous rash. So far, Zika virus infection has never led to hospitalisation. We describe the first case of Guillain-Barré syndrome (GBS) occurring immediately after a Zika virus infection, during the current Zika and type 1 and 3 dengue fever co-epidemics in French Polynesia. PMID:24626205

  17. Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report.

    PubMed

    Malvankar, Dipali D; Sacchidanand, S; Mallikarjun, M

    2012-02-01

    Ectrodactyly, Ectodermal dysplasia, and Cleft lip-cleft palate (EEC) syndrome is a rare ectodermal dysplasia presenting with various combinations of its three components. It is an autosomal dominant disorder with variable expression and penetrance. Patients have features of ectodermal abnormalities and a split hand/foot deformity of the limbs. We report a case of this rare disorder in a 40-year-old male who had ectrodactyly, ectodermal dysplasia, but no clefting of lips or palate. PMID:22398226

  18. Parry-Romberg syndrome: findings in advanced magnetic resonance imaging sequences - case report*

    PubMed Central

    de Paula, Rafael Alfenas; Ribeiro, Bruno Niemeyer de Freitas; Bahia, Paulo Roberto Valle; Ribeiro, Renato Niemeyer de Freitas; de Carvalho, Laís Balbi

    2014-01-01

    Parry-Romberg syndrome is a rare disease characterized by progressive hemifacial atrophy associated with other systemic changes, including neurological symptoms. Currently, there are few studies exploring the utilization of advanced magnetic resonance sequences in the investigation of this disease. The authors report the case of a 45-year-old patient and describe the findings at structural magnetic resonance imaging and at advanced sequences, correlating them with pathophysiological data. PMID:25741077

  19. Acute coronary syndrome in young Sub-Saharan Africans: A prospective study of 21 cases

    PubMed Central

    2013-01-01

    Background Coronary heart disease remains the leading cause of death in developed countries. In Africa, the disease continues to rise with varying rates of progression in different countries. At present, there is little available work on its juvenile forms. The objective of this work was to study the epidemiological, clinical and evolutionary aspects of acute coronary syndrome in young Sub-Saharan Africans. Methods This was a prospective multicenter study done at the different departments of cardiology in Dakar. We included all patients of age 40 years and below, and who were admitted for acute coronary syndrome between January 1st, 2005 and July 31st, 2007. We collected and analyzed the epidemiological, clinical, paraclinical and evolutionary data of the patients. Results Hospital prevalence of acute coronary syndrome in young people was 0.45% (21/4627) which represented 6.8% of all cases of acute coronary syndrome admitted during the same period. There was a strong male predominance with a sex-ratio (M:F) of 6. The mean age of patients was 34?±?1.9 years (range of 24 and 40 years). The main risk factor was smoking, found in 52.4% of cases and the most common presenting symptom was chest pain found in 95.2% of patients. The average time delay before medical care was 14.5 hours. Diagnosis of ST- elevation myocardial infarction in 85.7% of patients and non-ST-elevation myocardial infarction in 14.3% was made by the combination electrocardiographic features and troponin assay. Echocardiography found a decreased left ventricular systolic function in 37.5% of the patients and intraventricular thrombus in 20% of them. Thrombolysis using streptokinase was done in 44.4% of the patients with ST- elevation myocardial infarction. Hospital mortality was 14.3%. Conclusion Acute coronary syndrome is present in young Sub-Saharan Africans. The main risk factor found was smoking. PMID:24330283

  20. A case of severe ectopic ACTH syndrome from an occult primary – diagnostic and management dilemmas

    PubMed Central

    Griffin, Katherine; Amer, Saima

    2015-01-01

    Summary Resection of primary tumour is the management of choice in patients with ectopic ACTH syndrome. However, tumours may remain unidentified or occult in spite of extensive efforts at trying to locate them. This can, therefore, pose a major management issue as uncontrolled hypercortisolaemia can lead to life-threatening infections. We present the case of a 66-year-old gentleman with ectopic ACTH syndrome from an occult primary tumour with multiple significant complications from hypercortisolaemia. Ectopic nature of his ACTH-dependent Cushing's syndrome was confirmed by non-suppression with high-dose dexamethasone suppression test and bilateral inferior petrosal sinus sampling. The primary ectopic source remained unidentified in spite of extensive anatomical and functional imaging studies, including CT scans and Dotatate-PET scan. Medical adrenolytic treatment at maximum tolerated doses failed to control his hypercortisolaemia, which led to recurrent intra-abdominal and pelvic abscesses, requiring multiple surgical interventions. Laparoscopic bilateral adrenalectomy was considered but decided against given concerns of technical difficulties due to recurrent intra-abdominal infections and his moribund state. Eventually, alcohol ablation of adrenal glands by retrograde adrenal vein approach was attempted, which resulted in biochemical remission of Cushing's syndrome. Our case emphasizes the importance of aggressive management of hypercortisolaemia in order to reduce the associated morbidity and mortality and also demonstrates that techniques like percutaneous adrenal ablation using a retrograde venous approach may be extremely helpful in patients who are otherwise unable to undergo bilateral adrenalectomy. Learning points Evaluation and management of patients with ectopic ACTH syndrome from an unidentified primary tumour can be very challenging.Persisting hypercortisolaemia in this setting can lead to debilitating and even life-threatening complications and hence needs to be managed aggressively.Bilateral adrenalectomy should be considered when medical treatment is ineffective or poorly tolerated.Percutaneous adrenal ablation may be considered in patients who are otherwise unable to undergo bilateral adrenalectomy. PMID:26649179

  1. A hepatic cancer patient with Guillain-Barré syndrome during the perioperative period of partial hepatectomy: a case report

    PubMed Central

    Zeng, Su-Dan; Ye, Bin; Liang, Zhi-Jian

    2015-01-01

    We reported a case of hepatic cancer patient with Guillain-Barré syndrome during the perioperative period of partial hepatectomy in the present study. We analyzed the clinical data and described the characteristics of this patient. PMID:26550403

  2. A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all?

    PubMed

    Chiu, Yvonne E; Drolet, Beth A; Duffy, Kelly J; Holland, Kristen E

    2011-01-01

    Ectodermal dysplasias are diseases with abnormal development of ectodermally derived tissues such as skin, hair, teeth, and nails. Mutations in the transcription factor p63 have been linked to several syndromes characterized by ectodermal, orofacial, and limb defects. We present the case of an infant with ankyloblepharon, cleft palate, scalp dermatitis, and ectrodactyly. She is unique for having a novel p63 mutation that has not been previously reported. Her case also points to the significant overlap between the p63-associated ectodermal dysplasias and challenges the traditional diagnostic schema for these rare syndromes. PMID:19793345

  3. Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports

    PubMed Central

    2013-01-01

    Introduction Bloom syndrome is a rare, autosomal recessive, chromosomal instability disorder caused by mutations in the BLM gene that increase the risk of developing neoplasias, particularly lymphomas and leukemias, at an early age. Case presentation Case 1 was a 10-year-old Brazilian girl, the third child of a non-consanguineous non-Jewish family, who was born at 36 weeks of gestation and presented with severe intrauterine growth restriction. She had Bloom syndrome and was diagnosed with a unilateral Wilms’ tumor at the age of 3.5 years. She responded well to oncological treatment and has remained disease-free for the last 17 years. Case 2 was a 2-year-old Brazilian girl born to non-Jewish first-degree cousins. Her gestation was marked by intrauterine growth restriction. She had Bloom syndrome; a unilateral stage II Wilms’ tumor was diagnosed at the age of 4 years after the evaluation of a sudden onset abdominal mass. Surgical removal, neoadjuvant chemotherapy and radiotherapy were not sufficient to control the neoplasia. The tumor recurred after 8 months and she died from clinical complications. Conclusion Our study reports the importance of rapid diagnostics and clinical follow-up of these patients. PMID:24377487

  4. Unilateral Cataract and Vitreoretinopathy in a Case with Klippel-Trenaunay Syndrome

    PubMed Central

    Olcaysu, Osman Okan; Olcaysu, Elif; Marz?o?lu Ozdem?r, Ebru; Dem?r, Berrin

    2014-01-01

    Purpose. We present a case with Klippel-Trenaunay (KT) syndrome that had unilateral mature cataract and vitreoretinopathy. Case Report. A 17-year-old boy with KT syndrome presented to the clinic of ophthalmology for low vision in the right eye. His best corrected visual acuity (BCVA) was hand motion in the right eye and 20/20 in the left eye. Anterior segment examination revealed mature cataract in the right. During the physical examination, port-wine stains were noted over right side of his face, ankle, and toes. He had asymmetric face and his head was larger on the right side. Leg lengths were symmetrical, although he had skin hypertrophy. Cranial magnetic resonance imaging studies showed cortical atrophy discordant to his age, asymmetric vascular dilatations in the right hemisphere, hypertrophy in the right periorbital soft tissue, and choroidal plexus. The patient received an uncomplicated cataract surgery. His BCVA in the right eye improved to 20/200 after the surgery. After removing cataractous lens, we were able to examine the fundus that revealed severe vitreoretinopathy and choroidal hemangioma. Conclusion. This case emphasizes the importance of prompt ophthalmic examination in patients with KT syndrome. PMID:25031878

  5. Unilateral cataract and vitreoretinopathy in a case with klippel-trenaunay syndrome.

    PubMed

    Olcaysu, Osman Okan; Altun, Ahmet; Olcaysu, Elif; Marz?o?lu Ozdem?r, Ebru; Dem?r, Berrin

    2014-01-01

    Purpose. We present a case with Klippel-Trenaunay (KT) syndrome that had unilateral mature cataract and vitreoretinopathy. Case Report. A 17-year-old boy with KT syndrome presented to the clinic of ophthalmology for low vision in the right eye. His best corrected visual acuity (BCVA) was hand motion in the right eye and 20/20 in the left eye. Anterior segment examination revealed mature cataract in the right. During the physical examination, port-wine stains were noted over right side of his face, ankle, and toes. He had asymmetric face and his head was larger on the right side. Leg lengths were symmetrical, although he had skin hypertrophy. Cranial magnetic resonance imaging studies showed cortical atrophy discordant to his age, asymmetric vascular dilatations in the right hemisphere, hypertrophy in the right periorbital soft tissue, and choroidal plexus. The patient received an uncomplicated cataract surgery. His BCVA in the right eye improved to 20/200 after the surgery. After removing cataractous lens, we were able to examine the fundus that revealed severe vitreoretinopathy and choroidal hemangioma. Conclusion. This case emphasizes the importance of prompt ophthalmic examination in patients with KT syndrome. PMID:25031878

  6. Two cases of delayed diagnosis of postpartal streptococcal toxic shock syndrome.

    PubMed Central

    Schummer, Wolfram; Schummer, Claudia

    2002-01-01

    BACKGROUND: Puerperal sepsis due to group A beta-hemolytic streptococcal (GAS) toxic shock syndrome is associated with very high morbidity and mortality. Luckily it is now rare, but diagnosis is not always easy. This report demonstrates the problem of recognizing this disease, and summarizes the current knowledge on the pathomechanism and management of streptococcal toxic shock syndrome. CASE: Two cases of postpartum streptococcal toxic shock syndrome due to GAS are described. In both cases the correct diagnosis was delayed for several days. The first patient was sent home with the diagnosis of German measles; the second patient was transferred to our neurological intensive care unit with the diagnosis of meningitis. Both patients were admitted to the intensive care unit in profound shock, both developed multiple organ failure, and one patient died. CONCLUSIONS: GAS may produce virulence factors that cause host tissue pathology. Besides aggressive modern intensive care treatment, early diagnosis and correct choice of anti-streptococcal antibiotics are crucial. A possible adverse effect of non-steroidal anti-inflammatory agents requires confirmation in a multicenter study. PMID:12648316

  7. [Uncommon neonatal case of hypoglycemia: ACTH resistance syndrome].

    PubMed

    Delmas, O; Marrec, C; Caietta, E; Simonin, G; Morel, Y; Girard, N; Roucher, F; Sarles, J; Chabrol, B; Reynaud, R

    2014-12-01

    Monitoring of blood glucose is usually reported to reduce the risk of hypoglycemia in term newborns with high risk factors and for prematurity in neonatal intensive care unit patients. Differential diagnosis has rarely been discussed. In the eutrophic term newborn, hypoglycemia remains rare and an etiological diagnosis must be made. Intensive management of neonatal hypoglycemia is required to prevent neurodevelopmental defects. Without evident cause or if hypoglycemia persists, a systematic review of possible causes should be made. We report isolated glucocorticoid deficiency diagnosed in an infant at 10 months of age. This boy had neonatal hypoglycemia and mild jaundice that had not been investigated. During his first 9 months of life, he presented frequent infections. At 10 months of age, febrile seizures occurred associated with shock, hypoglycemia, hyponatremia, mild hyperpigmentation, and coma. He was diagnosed with hypocortisolemia and elevated ACTH levels. Brain injury was revealed by MRI after resuscitation, with hypoxic-ischemic and hypoglycemic encephalopathy. The molecular studies demonstrated the presence of p.Asp107Asn and previously unreported frameshift p.Pro281GlnfsX9 MC2R gene mutations. A substitutive hormone therapy was provided and during a follow-up of 12 months no adrenal crisis was noted. We report an unusual case of familial glucocorticoid deficiency with severe neurological injury. This case demonstrates the importance of an appropriate etiological diagnosis in neonatal hypoglycemia. PMID:25445127

  8. Rett syndrome

    MedlinePLUS

    Rett syndrome occurs almost always in girls. It may be diagnosed as autism or cerebral palsy. Most Rett syndrome cases are due to a problem in the gene called MECP2. This gene is on the X chromosome. Females ...

  9. Bilateral Pneumothoraces Following BiV ICD Placement: A Case of Buffalo Chest Syndrome

    PubMed Central

    Rali, Aniket S.; Manyam, Harish

    2015-01-01

    Patient: Female, 73 Final Diagnosis: Buffalo chest syndrome Symptoms: — Medication: — Clinical Procedure: Bi-ventricular ICD Specialty: Cardiology Objective: Rare disease Background: Contralateral pneumothorax following device implantation on the left side has been reported in a few cases. The majority of contralateral pneumothoraces showed evidence of atrial perforation on computed tomography (CT), echocardiography, or chest x-rays and required lead revision. To the best of our knowledge there is only 1 other reported case of contralateral pneumothorax without evidence of macro-displacement of the atrial lead. In that case the patient experienced a right-sided pneumothorax on day 1 after undergoing repositioning of the atrial lead. Case Report: The current case is unique on several accounts, including timing of the contralateral pneumothorax and no evidence of associated atrial lead perforation on device interrogation or CT imaging. Furthermore, the appearance of contralateral pneumothorax within 8 hours of clamping of the ipsilateral chest tube argues in favor of a pleuro-pleural fistula. Conclusions: The term ‘buffalo chest’ refers to a single pleural space, with no anatomical separation of the 2 hemithoraces, as seen in an American buffalo or bison. We believe this to be a case of buffalo chest syndrome. PMID:26431396

  10. POEMS syndrome with vascular transformation of the lymph node sinuses: A case report

    PubMed Central

    WANG, XIAOQING; YU, XIAOWEN; ZHU, DESHENG; ZHANG, SHEQING; ZHOU, XIAJUN; LIU, MINGYUAN; GUAN, YANGTAI

    2015-01-01

    POEMS syndrome is a rare multisystem disorder associated with the clinical signs of polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes. However, there is often a delay in the diagnosis due to a lack of overall consideration of the symptoms collectively. For this reason, POEMS syndrome is frequently mistaken for other diseases, such as chronic inflammatory demyelinating polyneuropathy. The present study reports the case of a 40-year-old female patient, who presented with a progressive lack of strength in the lower limbs and a unilateral cervical lump. The patient's enlarged cervical lymph nodes were mistaken for local hemangioma. However, subsequently POEMS syndrome with vascular transformation of the lymph node sinuses (VTS) was diagnosed. The patient received glucocorticoid treatment (20 mg prednisone acetate, daily), which is ongoing. The most recent follow-up examination revealed that the patient's strength had improved and at the time of writing the patient remained alive. The study discusses the clinical manifestations, auxiliary examinations and reason for the misdiagnosis. Hematoxylin and eosin staining and cluster of differentiation 31 immunostaining were adopted to identify the VTS. To the best of our knowledge, this is the first report of POEMS syndrome with VTS. PMID:26622751

  11. Visual neglect as a disconnection syndrome? A confirmatory case report.

    PubMed

    Ciaraffa, Francesca; Castelli, Gianmarco; Parati, Eugenio Agostino; Bartolomeo, Paolo; Bizzi, Alberto

    2013-08-01

    Visual neglect has classically been associated with right hemisphere injury in parietal, frontal, or temporal cortex, in the basal ganglia or in the thalamus. More recently, visual neglect has been associated with injury extended into fronto-parietal white matter tracts. However, in most published cases white and gray matter injuries were associated. We present the anatomo-clinical study of a patient presenting with severe acute left visual neglect due to ischemic infarct limited to the right cerebral hemisphere white matter. Magnetic resonance diffusion tensor imaging tractography was instrumental to accurately localize the injury to the right arcuate fasciculus that is a component of the large-scale networks controlling visuo-spatial attention. These results add to a growing appreciation that neglect may result from disruption of a distributed attentional network. PMID:22551209

  12. The ‘Inextricabilis Syndrome’: a case with no solution

    PubMed Central

    Khachatryan, Tigran; Beigel, Roy; Arsanjani, Reza

    2014-01-01

    Summary We describe a case of a 58-year-old man with cardiogenic shock who underwent triple vessel coronary artery bypass and a left ventricular assist device (LVAD) implantation. His course was complicated by stroke, worsening mitral regurgitation, aortic regurgitation, and multiple cardiac thrombi while on the device. We provide the details of the patient's hospital course, management, and echocardiographic findings. We also discuss the utility of echocardiography before LVAD insertion and its role for continued monitoring after insertion. Learning points Ventricular assist devices (VADs) are used as bridge to decision, transplant, recovery, or destination therapy in patients with advanced heart failure and cardiogenic shock.VADs improve survival and the quality of life but have significant associated complications.Echocardiography plays an essential role before VAD insertion and for postoperative cardiac monitoring. Information provided by echocardiography is used in device selection, consideration for corrective surgical interventions, and device explantation.

  13. [Gonosomal trisomy syndrome. Five case reports and review of literature].

    PubMed

    Schwemmle, C; Jungheim, M; Ptok, M

    2013-11-01

    Gonosomal trisomies (GT) or so called sex chromosome trisomies (SCTs) are the most common chromosomal abnormalities in humans. The addition of extra X and/or Y chromosomes leads to neurodevelopmental differences, with increased risk for developmental delays, cognitive impairments, executive dysfunction, and behavioural and psychological disorders. Attentional problems, hyperactivity, autistic spectrum disorders and impulsivity are commonly described. Rates of language and communication problems are high in all 3 trisomies. Especially in cases of language impairment ENT specialists may be the main contact to rule out hearing loss. Here, we present 5 patients with SCT. In 2 boys and a young man, SCT was already known (47,XXY; 47,XYY; 47,XYY), in 2 cases we initiated genetic investigation (47,XXX; 47,XXY). Main symptom of the 4 children was a language delay; the young man reported had a history of mild language and motor coordination delay, too. Main complaints of the adult patient were problems with speech-in-noise perception. Furthermore 2 of the patients had mild facial dysmorphic features. The prognosis of the development in patients with SCT is variable, depending on severity of the manifestations and on quality and timing of treatment. Furthermore, in children with motor development/language delay a chromosomal analysis may be initiated at least at the request of the parents to clarify the etiology of developmental abnormalities. If the suspicion of hearing impairment as the cause of problems is not confirmed in a patient, ENT specialists should also consider SCA as a possible cause in the differential diagnosis. PMID:23929211

  14. Lemierre's Syndrome Caused by Klebsiella pneumoniae in a Diabetic Patient: A Case Report and Review of the Literature

    PubMed Central

    Chuncharunee, Alan

    2015-01-01

    Lemierre's syndrome is characterized by an oropharyngeal infection with internal jugular vein thrombosis followed by metastatic infections in other organs. This infection is usually caused by Fusobacterium spp. In this report, we present a rare case of Klebsiella pneumoniae-associated Lemierre's syndrome in a patient with poorly-controlled diabetes mellitus. The infection was complicated by septic emboli in many organs, which led to the patient's death, despite combined antibiotics, anticoagulant therapy, and surgical intervention. Therein, a literature review was performed for reported cases of Lemierre's syndrome caused by Klebsiella pneumoniae and the results are summarized here. PMID:26279962

  15. Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh

    PubMed Central

    Sayeed, Md. Zahidus; Salam, Md. Abdus; Haque, Md. Zahirul; Islam, A.K.M. Monwarul

    2014-01-01

    Brugada syndrome is an inherited cardiac arrhythmia that follows autosomal dominant transmission and can cause sudden death. We report a case of Brugada syndrome in a 55-year-old male patient presented with recurrent palpitation, atypical chest pain and presyncope. ECG changes were consistent with type 1 Brugada. Gene analysis revealed a novel missense mutation in SCN5A gene with a genetic variation of D785N and a nucleotide change at 2353G-A. One of his children also had the same mutation. To our knowledge this is the first genetically proved case of Brugada syndrome in Bangladesh. PMID:24581105

  16. A Case of Secondary Leukemia Subsequent to Myelodysplastic Syndromes Successfully Treated with Azacitidine

    PubMed Central

    Kumode, Takahiro; Fukui, Ayano; Eguchi, Go; Yamaguchi, Terufumi; Maeda, Yasuhiro

    2014-01-01

    Elderly patients with secondary acute myeloid leukemia (AML) following myelodysplastic syndrome (MDS) are often medically unfit for or resistant to chemotherapy, and their prognosis is dismal. In the present paper, we reported a case of secondary leukemia following MDS in an 80-year-old male patient who was deemed unfit for chemotherapy owing to his old age and poor physical condition. Despite a high tumor burden, treatment with AZA exerted a remarkable response, leading to an immediate cytoreduction in our case. Our results suggest that AZA can be an attractive therapeutic option for elderly MDS or AML patients, offering adequate efficacy and high tolerability. PMID:24799912

  17. Postdural Puncture Superior Sagittal Sinus Thrombosis in a Juvenile Case of Clinically Isolated Syndrome

    PubMed Central

    Michel, Miriam; Haberlandt, Edda; Baumann, Matthias; Entenmann, Andreas; Wagner, Michaela; Rostasy, Kevin

    2015-01-01

    Background. The causes of cerebral venous thrombosis (CVT) are manifold as is its clinical presentation. Case. We report the case of a CVT following lumbar puncture and intravenous glucocorticosteroid therapy in a female adolescent with a clinically isolated syndrome and risk factors for thrombosis. Conclusion. In adolescent patients with acute inflammatory disease undergoing lumbar puncture followed by intravenous high-dose glucocorticosteroid therapy, one should be aware of the elevated risk for thrombosis. A persistent headache with change in the headache pattern and loss of a postural component might be a sign for CVT, requiring emergency imaging of the brain. PMID:26558127

  18. Point-of-care Ultrasound to Identify Distal Ulnar Artery Thrombosis: Case of Hypothenar Hammer Syndrome

    PubMed Central

    Ken, Jonathan; Khangura, Darshan; Stickles, Sean P.

    2015-01-01

    Hypothenar hammer syndrome (HHS) is a rare condition of distal ulnar artery injury and thrombosis secondary to repetitive blunt trauma to the hypothenar area. We present a case of HHS for which point-of-care ultrasound (POCUS) was used as the initial means of imaging, prompting management and disposition without further imaging studies ordered in the emergency department (ED). This case demonstrates the utility of POCUS to aid the Emergency Physician in the diagnosis and management of patients with extremity vascular issues in the ED, and details a rarely seen clinical entity in the ED. PMID:26265969

  19. Propofol infusion syndrome resuscitation with extracorporeal life support: a case report and review of the literature

    PubMed Central

    2013-01-01

    We report a case of propofol infusion syndrome (PRIS) in a young female treated for status epilepticus. In this case, PRIS rapidly evolved to full cardiovascular collapse despite aggressive supportive care in the intensive care unit, as well as prompt discontinuation of the offending agent. She progressed to refractory cardiac arrest requiring emergent initiation of venoarterial extracorporeal membrane oxygenation (ECMO) during cardiopulmonary resuscitation (CPR). She regained a perfusing rhythm after prolonged (>8 hours) asystole, was weaned off ECMO and eventually all life support, and was discharged to home. We also present a review of the available literature on the use of ECMO for PRIS. PMID:24059786

  20. Crowned Dens Syndrome: A Case Report and Review of the Literature

    PubMed Central

    Lee, Gwang Soo; Park, Hyung Ki; Chang, Jae Chil

    2014-01-01

    The crowned dens syndrome (CDS), also known as periodontoid calcium pyrophosphate dehydrate crystal deposition disease, is typified clinically by severe cervical pain, neck stiffness and atlantoaxial synovial calcification which could be misdiagnosed as meningitis, epidural abscess, polymyalgia rheumatica, giant cell arthritis, rheumatoid arthritis, cervical spondylitis or metastatic spinal tumor. Crystalline deposition on cervical vertebrae is less well known disease entity and only a limited number of cases have been reported to date. Authors report a case of CDS and describe the clinical feature. PMID:24891867

  1. Hereditary angioedema presenting as irritable bowel syndrome: a case of early closure

    PubMed Central

    Benrajab, Karim M.; Singh, Gurkeerat; Obah, Eugene

    2015-01-01

    Abdominal pain is one of the most common reasons for outpatient and emergency department visits. We present one such case of early closure in a 32-year-old male with recurrent abdominal pain who was diagnosed with irritable bowel syndrome (IBS). Family history was suspicious for hereditary angioedema (HAE). The HAE workup came back positive, and the patient was started on prophylactic therapy, which led to an improvement in symptoms and quality of life. The purpose of this case is to create awareness among physicians to test for HAE in patients diagnosed with IBS who, based on their history or physical examination, have clinical suspicion for HAE. PMID:26486119

  2. Postdural Puncture Superior Sagittal Sinus Thrombosis in a Juvenile Case of Clinically Isolated Syndrome.

    PubMed

    Michel, Miriam; Haberlandt, Edda; Baumann, Matthias; Entenmann, Andreas; Wagner, Michaela; Rostasy, Kevin

    2015-01-01

    Background. The causes of cerebral venous thrombosis (CVT) are manifold as is its clinical presentation. Case. We report the case of a CVT following lumbar puncture and intravenous glucocorticosteroid therapy in a female adolescent with a clinically isolated syndrome and risk factors for thrombosis. Conclusion. In adolescent patients with acute inflammatory disease undergoing lumbar puncture followed by intravenous high-dose glucocorticosteroid therapy, one should be aware of the elevated risk for thrombosis. A persistent headache with change in the headache pattern and loss of a postural component might be a sign for CVT, requiring emergency imaging of the brain. PMID:26558127

  3. [Diagnostic pitfalls of pseudo-foster kennedy syndrome - a case report].

    PubMed

    Michalec, M; Vlková, E; Matušková, V; Vysloužilová, D; Michalcová, L

    2014-12-01

    To the outpatient facility of the Department of Ophthalmology, Faculty Hospital Brno, Czech Republic, E.U., was in June 2013 referred a 24 years old man with the suspicion of Foster Kennedy syndrome. On the fundus examinations, the findings were in correlation with the symptoms of this syndrome: slightly pale optic disc of the right eye and edema with the anterior extension of the optic nerve head of the left eye. The perimetric examination revealed bilateral visual fields defects, mainly in the nasal parts of the visual fields which is not typical for this syndrome. The native magnetic resonance imaging (MRI) examination was negative. Due to the suspicion of pathologic finding in the visual pathway area, the blood levels of pituitary gland hormones were examined and revealed elevated prolactin levels. In the indicated MRI examination with contrast, in the revised reading, a suspicious microadenoma of the pituitary gland was detected. Due to the atypical changes in the perimetric examinations, other possible causes of visual fields defects as coincidence of multiple, each other independent pathologies (neuritis or neuropathy of the optic nerve, neuromyelitis optica (Devic disease), Lebers hereditary optic neuritis (LHON) etc.) to exclude or to confirm the Pseudo-Foster Kennedy syndrome were taken into account. The patient is regularly followed up at our outpatient facility as well as at the outpatient facility of the Department of Neurosurgery, where, until now, the follow up only was recommended. The diagnosis of this case was, until now, set as Pseudo- Foster Kennedy syndrome, with unclarified cause of the clinical findings. PMID:25640236

  4. A Case of Myelodysplastic Syndrome with Intestinal Behçet's Disease-Like Symptoms Treated by Prednisolone and Azacitidine.

    PubMed

    Endo, Masatsugu; Sekikawa, Akira; Tsumura, Takehiko; Maruo, Takanori; Osaki, Yukio

    2015-01-01

    BACKGROUND Intestinal Behçet's disease-like symptoms are rare complications of myelodysplastic syndrome and are often refractory to immunosuppressive therapies. We described a case of myelodysplastic syndrome complicated by Behçet's disease-like symptoms treated with prednisolone and azacitidine. CASE REPORT A 68-year-old Japanese woman was admitted to our hospital because of persistent high fever and lower abdominal pain. Oral ulcerations developed after admission, and multiple ulcers were found in her terminal ileum by endoscopic examination. She was diagnosed with myelodysplastic syndrome with trisomy 8 by bone marrow examination. Her symptoms diminished after administration of prednisolone, but relapsed afterwards. She began azacitidine therapy and her symptoms have been controlled for at least 10 months. CONCLUSIONS This case might suggest the possibility of azacitidine as a treatment option for myelodysplastic syndrome complicated by Behçet's disease-like symptoms. PMID:26590106

  5. Prader-Willi syndrome, excessive daytime sleepiness, and narcoleptic symptoms: a case report

    PubMed Central

    2014-01-01

    Introduction Sleep abnormalities, including narcolepsy and cataplexy, are a common feature of Prader-Willi syndrome. Long-term treatment with the central nervous system stimulant modafinil has not been reported. In this case report we present a longitudinal perspective of sleep abnormalities in a nine-year-old Caucasian girl with Prader-Willi syndrome from age two to age nine, and detail the response to treatment with the central nervous system stimulant modafinil. Case presentation Our patient presented at two years of age with hypersomnia and narcoleptic episodes with cataplectic features. Initial polysomnograph testing revealed adequate sleep efficiency, but increased sleep fragmentation especially during rapid eye movement sleep. The narcoleptic episodes continued and a repeat polysomnograph at age five years confirmed features consistent with narcolepsy. Further sleep studies at six years, including a multiple sleep latency test, demonstrated signs of excessive daytime sleepiness. Treatment with modafinil was initiated at age seven years six months due to persistent hypersomnia and narcoleptic symptoms. Two polysomnograph studies were performed following treatment with modafinil, at age eight years six months and nine years three months. These studies showed excellent sleep efficiency and improvement of rapid eye movement sleep parameters, supporting the beneficial effects of long-term modafinil therapy. Conclusions Long-term modafinil therapy may ameliorate the sleep disturbances of Prader-Willi syndrome and should be the focus of future clinical trials. PMID:24742112

  6. Atypical Hemolytic-Uremic Syndrome: A Case Report and Literature Review

    PubMed Central

    Rafiq, Arsalan; Tariq, Hassan; Abbas, Naeem; Shenoy, Roopalekha

    2015-01-01

    Patient: Female, 59 Final Diagnosis: Atyipcal hemolytic uremic syndrome Symptoms: Delirium • headache Medication: — Clinical Procedure: — Specialty: Hematology Objective: Rare disease Background: Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by hemolysis, thrombocytopenia, and renal dysfunction. It is a disease related to genetic mutations in the alternative complement pathway and has a distinct pathophysiology but is difficult to differentiate from other thrombotic microangiopathies. Case Report: We present a case of a 59-year-old female patient who presented with accelerated hypertension, acute renal failure, hemolysis, and encephalopathy. She was managed with antihypertensive medication, but her encephalopathy did not improve. Evaluation resulted in our impression of the disease being atypical hemolytic-uremic syndrome. The patient continued to be managed with good blood pressure control and later was started on eculizumab, but evaluation of response to therapy was hindered by the patient’s non-compliance with therapy and follow-up appointments. Conclusions: We have a very limited understanding of the genetics and epidemiology of atypical HUS, and the overlapping clinical features sometimes delay diagnosis and initiation of appropriate treatment of this rare disease. PMID:25708146

  7. Proteus syndrome: a case report and a case study review in China

    PubMed Central

    Zhang, Xi-Bao; Li, Chang-Xing; He, Yu-Qing; Zhang, San-Quan; Cai, Yan-Xia

    2010-01-01

    Proteus syndrome (PS) is a rare and sporadic disorder characterized by overgrowth of multiple tissues and a propensity to develop particular neoplasms. The clinical manifestations of PS include macrodactyly, vertebral abnormalities, asymmetric limb overgrowth and length discrepancy, hyperostosis, abnormal and asymmetric fat distribution, asymmetric muscle development, connective tissue nevi, and vascular malformations. We report a 16-year old female patient who manifested a number of these complications and review the Chinese literature about the diagnosis, natural history, and management of PS. PMID:25386239

  8. Gorlin–Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature

    PubMed Central

    Lata, Jeevan; Verma, Nitin; Kaur, Amandeep

    2015-01-01

    Objective: In Indian scenario, Gorlin–Goltz syndrome (nevoid basal cell carcinoma syndrome [NBCCS]) has been rarely reported. The clinical, radiological, and histopathological findings and major and minor criteria in five cases of NBCCS in North Indian population have been presented along with a discussion of the role of gene mutation analysis in early diagnosis of syndrome. Materials and Methods: The diagnostic findings of Gorlin–Goltz syndrome in 5 patients were compared with other reports in Indian population and with reports of this syndrome in other parts of the world. Results: The most common features seen were keratocystic odontogenic tumors (100%), calcifications of falx cerebri (60%), palmar-plantar pits (80%), rib anomalies (80%), macroencephaly (60%), ocular hypertelorism (80%), and frontal bossing (60%) in our series. Retained deciduous teeth seen in 80% patients whose association has not been previously reported has been presented. None of our patients had basal cell carcinoma, syndactyly or polydactyly, pectus deformity, bridging of sella turcica, pigmented nevi, or family history of this syndrome in contrast to such findings in other Indian patients. Medulloblastoma has not been reported in any Indian patient so far compared to this finding in other studies conducted worldwide. Conclusions: Combining the features of 48 patients in 38 cases of NBCCS being published in Indian literature with five cases of our series and on comparison with other studies in the world, a wide disparity in different ethnic groups and a wide variation in presentation of syndrome within the same population is suggested. PMID:26604574

  9. Grammatical constructions in Cri du chat syndrome--findings from a case study.

    PubMed

    Kristoffersen, Kristian Emil

    2009-12-01

    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. The theoretical framework is construction grammar. Data for the study were collected in a diary by the author over a period of 4 months and make up a corpus of 552 utterances. These utterances are described in terms of MLU, diversity of argument structure constructions, proportion and types of complex utterances, use of auxiliaries, as well as deviant word order patterns, types of omissions, and use of prefabricated units. The primary aim of the study is to identify strengths and weaknesses in syntactic skills, which provide the basis for future research on grammatical skills in persons with CCS. PMID:20001303

  10. Two days with a broken knife blade in the neck – an interesting case of Horner's syndrome

    PubMed Central

    Dubois-Marshall, S; De Kock, S

    2010-01-01

    A 25-year-old man presented to the Emergency department in a rural South African hospital after a left, submental neck stab with a knife. Examination was deemed unremarkable, and the patient was discharged, but re-attended 2 days later complaining of a painful, swollen neck. Further examination identified Horner's syndrome, and further investigation revealed that the blade of the knife had remained in the patient's neck. This was successfully removed in theatre. This case illustrates the importance of careful history, examination and diagnostic imaging in the management of penetrating neck injuries. Horner's syndrome can be easily missed in a busy Emergency department and may indicate life-threatening pathology in the context of neck trauma. The difficulties in assessing and managing this type of injury are discussed. PMID:22766569

  11. Do the physiotherapy results make us happy in a case with ‘happy puppet’ (Angelman) syndrome?

    PubMed Central

    Kara, Ozgun Kaya; Mutlu, Akmer; Gunel, Mintaze Kerem; Haliloglu, Goknur

    2010-01-01

    This study aimed to investigate the benefits of physiotherapy programme in a patient with Angelman syndrome (AS) during a follow-up of 3 years. Assessments included: disability level with gross motor function classification systems, gross motor function with gross motor function measurement (GMFM), balance with Berg Balance Scale, motor performance with gross motor performance measurement (GMPM) and tonus assessment with Modified Ashworth Scale. Physiotherapy programme was performed during 36 months, 3 days per week by physical therapist according to Neurodevelopmental Treatment approach. During the 36 months, GMFM increased from 11.46% to 70.82% and GMPM increased from 1.25% to 70.25%. This case report is the first study about the effectiveness of physiotherapy with medium-term follow-up in a child with AS. Physiotherapy results make us happy in this particular patient with ‘happy puppet’ syndrome. PMID:22802472

  12. Churg-Strauss Syndrome as an Unusual Cause of Dysphagia: Case Report

    PubMed Central

    Park, Jihye; Moon, Su-Jin; Park, Geun-Young; Jang, Yongjun; Kim, Yeonjin

    2015-01-01

    Systemic vasculitis is a rare disease, and the diagnosis is very difficult when patient shows atypical symptoms. We experienced an unusual case of dysphagia caused by Churg-Strauss syndrome with lower cranial nerve involvement. A 74-year-old man, with a past history of sinusitis, asthma, and hearing deficiency, was admitted to our department for evaluation of dysphagia. He also complained of recurrent bleeding of nasal cavities and esophagus. Brain magnetic resonance imaging did not show definite abnormality, and electrophysiologic findings were suggestive of mononeuritis multiplex. Dysphagia had not improved after conventional therapy. Biopsy of the nasal cavity showed extravascular eosinophilic infiltration. All these findings suggested a rare form of Churg-Strauss syndrome involving multiple lower cranial nerves. Dysphagia improved after steroid therapy. PMID:26161355

  13. Hajdu-Cheney Syndrome: A case report with review of literature

    PubMed Central

    Palav, Shailesh; Vernekar, Jeevan; Pereira, Sweta; Desai, Ankush

    2014-01-01

    Hajdu-Cheney syndrome is a very rare connective tissue disorder. It has autosomal dominant inheritance or may occur due to spontaneous de novo mutation. Recent research suggests that it is caused by heterozygous mutation of terminal exon of NOTCH 2. Most characteristic findings include transverse band of acro-osteolysis involving the phalanges of both hands and feet and osteoporosis and deformities involving skull, mandible, spine and other bones. Patient may progressively develop kyphoscoliosis, basilar invagination, and bone fractures due to bone softening. Treatment is symptomatic. In this case report we present clinical and radiological features of a 43-year-old female patient who presented with features of Hajdu-Cheney syndrome. PMID:25426244

  14. Ulnar Impaction Syndrome: A case series investigating the appropriate diagnosis, management, and post-operative considerations

    PubMed Central

    Woitzik, Erin; deGraauw, Chris; Easter, Brock

    2014-01-01

    Ulnar sided wrist pain is a common site for upper extremity disability. Ulnar impaction syndrome results in a spectrum of triangular fibrocartilage complex (TFCC) injuries and associated lunate, triquetrum, and ligamentous damage. Patients commonly present with insidious ulnar sided wrist pain and clicking, and a history of trauma or repetitive axial loading and rotation. In this case series, three patients presented to a sports chiropractor for evaluation and were subsequently diagnosed with ulnar impaction syndrome. Treatment strategies consist of conservative management, arthroscopic debridement or repair, arthroscopic wafer procedure, or ulnar shortening osteotomy. For the athlete, intervention should be individualized and sport-specific, considering athletic priorities, healing potential, return to play, and long-term health concerns. PMID:25550665

  15. Seventh-day syndrome: a catastrophic event after liver transplantation: case report.

    PubMed

    Pereira, M; Ferreira, I; Gandara, J; Ferreira, S; Lopes, V; Coelho, A; Vizcaino, R; Marinho, A; Daniel, J; Miranda, H P

    2015-05-01

    Seventh-day syndrome (7DS) is an early serious complication of liver transplantation, characterized by sudden failure of a previously normally functioning liver graft ?1 week after the surgery. Although it is an uncommon event, it has major associated mortality. As its etiology is yet to be recognized, the only currently available treatment is retransplantation. We present 3 cases of orthotopic liver transplantation recipients who had an initial uneventful recovery after surgery followed by a dramatic rise of serum liver enzyme levels ?7 days later and hepatic failure with subsequent graft loss and death despite high-dose immunosuppressive therapy. Histologic findings showed massive centrolobular hemorrhage and hepatocellular necrosis with reduced inflammation. It is essential to review and accumulate more clinical and laboratory information to better understand this syndrome and to better prevent and treat it. PMID:26036518

  16. [Pure primitive dysautonomia or Bradbury-Eggleston syndrome. Report of 3 cases].

    PubMed

    Marouene, H; Bellassoued, M; Mnif, M; Rekik, N; Chouayakh, F; Zouari, N; Abid, M

    2001-01-01

    The primary autonomic failure (Bradbury-Eggleston syndrome) is rare. We report three cases (two females and one male) who are 55 year old with orthostatic hypotension, tachycardia, and other signs of dysautonomia. They hadn't a pyramidal, extrapyramidal or cerebellar syndromes. The other causes of postural hypotension are excluded. The autonomic dysfunction was confirmed by autonomic reflex tests and by evaluating of cardiac reflex function; these included heart rate responses to deep breathing and to the valsalva maneuver. Hypotension occurs in a variety of clinical setting; ascertainment of the cause is by non means easy. Primary autonomic failure remains a diagnostic category based on exclusion; its pathophysiology isn't well know and its treatment is only symptomatic. PMID:11771436

  17. A case of probable korsakoff's syndrome: a syndrome of frontal lobe and diencephalic structural pathogenesis and a comparison with medial temporal lobe dementias.

    PubMed

    Spiegel, David R; Lim, Kheng-Jim

    2011-06-01

    Korsakoff's Syndrome is an amnestic disorder that involves both anterograde and retrograde amnesia. Traditionally associated with longstanding alcohol misuse, thiamine deficiency has been long posited in its pathogenesis, as has dienecephalic lesions. Yet, through this case report, we highlight similarities (and differences) with medial temporal lobe memory disorders and the role of frontal lobe dysfunction in its retrograde amnesia. PMID:21779537

  18. [Two cases of acute respiratory distress syndrome related to zinc fumes and zinc dust inhalation].

    PubMed

    Ishimoto, Hiroshi; Yatera, Kazuhiro; Oda, Keishi; Kawanami, Toshinori; Soda, Hiroshi; Kohno, Shigeru; Mukae, Hiroshi

    2014-06-01

    Two cases of acute respiratory distress syndrome related to zinc fume inhalation and zinc powder inhalation are presented. Case 1 demonstrated acute respiratory symptoms during the work of distortion correction of iron boards, coated with a rust preventative including rich zinc using an acetylene gas burner. Case 2 occurred after the work of applying a rust preventative that included zinc powder, mainly using an airless compressor. Since both were working in a boathouse, without using protective equipment, the possible causes of Case 1 and 2 were inhalation exposure to zinc fumes and zinc powder, respectively. The two patients showed similar clinical courses, including favorable treatment outcomes, mimicking acute respiratory failure complicated by a metal fume fever. PMID:24930880

  19. A Study of Eclampsia Cases Associated with Posterior Reversible Encephalopathy Syndrome

    PubMed Central

    Bembalgi, Shobha; Shruthi, K.R.

    2015-01-01

    Objectives Incidence of eclampsia is 1 in 2000 to 3250 deliveries in developed countries and 1 to 5% in India. Posterior reversible encephalopathy syndrome (PRES) is a constellation of symptoms caused by reversible ischaemia mostly of the posterior cerebral vasculature. PRES has been associated with preeclampsia-eclampsia and acute renal injury. We present a study of patients in whom eclampsia was complicated with PRES. Our aim was to study the clinico-radiological profile, associated complications and outcome of patients who had eclampsia with PRES. Materials and Methods A retrospective study was done of all pregnancies diagnosed as eclampsia with PRES syndrome over a four year period from August 2010 to July 2014 managed at Karnataka institute of medical sciences, Hubli, India. Results Eleven patients had eclampsia with PRES syndrome of the 36,094 patients delivered in the institution over the study period. Nine of these were primigravidas, 8 were of 20-25 years age group, 10 presented with multiple seizure episodes. In eight patients seizures were controlled only with MgSo4. Perinatal mortality was seen in three patients. There were no maternal deaths in these cases. Conclusion Incidence of eclampsia with PRES syndrome was 0.03% amongst the patients delivered in Karnataka institute of medical sciences. The incidence of PRES was more amongst cases of postpartum eclampsias as compared to antepartum eclampsias. PRES was more common in primigravidas and younger age group (20 to 25 years). Signs of imminent eclampsia like headache, epigastric pain and blurring vision were uncommon in these patients. In the majority of the patients seizures were controlled with MgSo4 alone. Prognosis of eclamptic patients with PRES was favourable. PMID:26393169

  20. An atypical case of fragile X syndrome caused by a deletion that includes FMRI gene

    SciTech Connect

    Quan, F.; Zonana, J.; Gunter, K.; Peterson, K.L.; Magenis, R.E., Popovich, B.W.

    1995-05-01

    Fragile X syndrome is the most common form of inherited mental retardation and results from the transcriptional inactivation of the FMR1 gene. In the vast majority of cases, this is caused by the expansion of an unstable CGG repeat in the first exon of the FMR1 gene. We describe here a phenotypically atypical case of fragile X syndrome, caused by a deletion that includes the entire FMR1 gene and {ge}9.0 Mb of flanking DNA. The proband, RK, was a 6-year-old mentally retarded male with obesity and anal atresia. A diagnosis of fragile X syndrome was established by the failure of RK`s DNA to hybridize to a 558-bp PstI-XhoI fragment (pfxa3) specific for the 5{prime}-end of the FMR1 gene. The analysis of flanking markers in the interval from Xq26.3-q28 indicated a deletion extending from between 160-500 kb distal and 9.0 Mb proximal to the FMR1 gene. High-resolution chromosome banding confirmed a deletion with breakpoints in Xq26.3 and Xq27.3. This deletion was maternally transmitted and arose as a new mutation on the grandpaternal X chromosome. The maternal transmission of the deletion was confirmed by FISH using a 34-kb cosmid (c31.4) containing most of the FMR1 gene. These results indicated that RK carried a deletion of the FMR1 region with the most proximal breakpoint described to date. This patient`s unusual clinical presentation may indicate the presence of genes located in the deleted interval proximal to the FMR1 locus that are able to modify the fragile X syndrome phenotype. 36 refs., 7 figs.

  1. Thrombosis of the persistent median artery as a cause of carpal tunnel syndromecase study

    PubMed Central

    Multan, Aleksandra; Konarzewska, Aleksandra

    2012-01-01

    Carpal tunnel syndrome is the most frequent neuropathy of the upper extremity, that mainly occurs in manual workers and individuals, whose wrist is overloaded by performing repetitive precise tasks. In the past it was common among of typists, seamstresses and mechanics, but nowadays it is often caused by long hours of computer keyboard use. The patient usually complains of pain, hypersensitivity and paresthesia of his hand and fingers in the median nerve distribution. The symptoms often increase at night. In further course of the disease atrophy of thenar muscles is observed. In the past the diagnosis was usually confirmed in nerve conduction studies. Nowadays a magnetic resonance scan or an ultrasound scan can be used to differentiate the cause of the symptoms. The carpal tunnel syndrome is usually caused by compression of the median nerve passing under the flexor retinaculum due to the presence of structures reducing carpal tunnel area, such as an effusion in the flexor tendons sheaths (due to overload or in the course of rheumatoid diseases), bony anomalies, muscle and tendon variants, ganglion cysts or tumors. In some cases diseases of upper extremity vessels including abnormalities of the persistent median artery may also result in carpal tunnel syndrome. We present a case of symptomatic carpal tunnel syndrome caused by thrombosis of the persistent median artery which was diagnosed in ultrasound examination. The ultrasound scan enabled for differential diagnosis and resulted in an immediate referral to clinician, who recommended instant commencement on anticoagulant treatment. The follow-up observation revealed nearly complete remission of clinical symptoms and partial recanalization of the persistent median artery. PMID:26676173

  2. A 63-year-old man with recurrent pulmonary infections: a case of Swyer-James Macleod syndrome.

    PubMed

    Desai, Neeraj R; Palomino, Jaime; Hayek, Hafez; Shames, Jay; Simeone, Francesco

    2010-01-01

    Swyer-James Macleod syndrome is a rare disorder that leads to recurrent respiratory infections. The fibrosis and obstruction of the terminal and respiratory bronchioles, likely caused by respiratory infections in early childhood, prevents normal development of the alveolar bud. Organisms that have been associated with this syndrome include adenovirus, measles, bordetella pertussis, mycobacterium spp, influenza A and mycoplasma. The syndrome is an acquired cause of unilateral emphysema. The diagnosis of the syndrome can be made in infancy or early childhood, but in asymptomatic individuals can be delayed until adulthood and rarely in the elderly. Chest radiographs and computed tomographic (CT) scan can confirm the diagnosis and exclude other possibilities. A case of Swyer- James Macleod syndrome diagnosed at age 63 in a patient with recurrent respiratory infections and a history of childhood pertussis is presented. PMID:21294492

  3. Frey's Syndrome Consequent to an Unusual Pattern of Temporomandibular Joint Dislocation: Case Report with Review of Its Incidence and Etiology

    PubMed Central

    Kamath, Rajay A. D.; Bharani, Shiva; Prabhakar, Suhas

    2013-01-01

    Frey's syndrome was first described in the 18th century. Recognizing it as a nonspecific condition, the symptom of gustatory sweating in patients with parotid gland inflammation was described by Duphenix and Baillarger. However, as a specific diagnostic entity, gustatory sweating, following trauma to parotid glands, was first described by Polish neurologist Lucie Frey, in 1923, and hence he proposed the term auriculotemporal syndrome. The condition is characterized by sweating, flushing, a sense of warmth, and occasional pain in the preauricular and temporal areas, following the production of a strong salivary stimulus. Several etiologies of Frey's syndrome have been mentioned in the literature; however, none attribute dislocation of the “intact” mandibular condyle as a cause of the syndrome. Reviewing its pathophysiology, etiology, and incidence in detail, we describe a case of Frey's syndrome subsequent to superolateral dislocation of the intact mandibular condyle following fracture of the anterior mandible. Its management and prevention are also discussed in brief. PMID:24436729

  4. Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion.

    PubMed

    Di Stefano, C; Lombardo, B; Fabbricatore, C; Munno, C; Caliendo, I; Gallo, F; Pastore, L

    2015-04-01

    Oculo-facio-cardio-dental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental and cardiac systems. The syndrome is an X-linked dominant trait and it might be lethal in males. This syndrome is usually caused by mutations in the BCL6 interacting co-repressor gene (BCOR). We described a female child with mild phenotype of oculo-facio-cardio-dental syndrome. Array-comparative genomic hybridization (a-CGH) analysis revealed a de novo heterozygous deletion in the Xp11.4 region of approximately 2.3 Mb, involving BCOR and ornithine carbamoyl-transferase (OTC) genes. The deletion observed was subsequently confirmed by real time PCR. In this study we report a first case with co-occurrence of BCOR and OTC genes completely deleted in OFCD syndrome. PMID:25620158

  5. Castleman disease variant of POEMS syndrome complicated with multiple cerebral infarction: a rare case report and review of literature.

    PubMed

    Yu, Hang; Yao, Fang; Li, Yue; Li, Jian; Cui, Quan-Cai

    2015-01-01

    POEMS syndrome is a rare hematological disorder associated with plasma cell dyscrasia characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes. Castleman disease is a lymphoproliferative disorder that can be present in POEMS patients, which can be defined as Castleman disease variant of POEMS syndrome. Herein, we described a 24-year-old male patient diagnosed with this syndrome and also suffered from multiple cerebral infarctions. This patient showed no evidence of monoclonal gammopathy and failed to have electromyography examined. The final diagnosis was established with the help of the axillary lymph node biopsy. As a rare case of POEMS syndrome without evidence fulfilling the major mandatory diagnostic criteria and with cerebrovascular involvement, its characteristics was discussed with a brief literature review in order to facilitate further understanding of the POEMS syndrome. PMID:26722578

  6. Castleman disease variant of POEMS syndrome complicated with multiple cerebral infarction: a rare case report and review of literature

    PubMed Central

    Yu, Hang; Yao, Fang; Li, Yue; Li, Jian; Cui, Quan-Cai

    2015-01-01

    POEMS syndrome is a rare hematological disorder associated with plasma cell dyscrasia characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes. Castleman disease is a lymphoproliferative disorder that can be present in POEMS patients, which can be defined as Castleman disease variant of POEMS syndrome. Herein, we described a 24-year-old male patient diagnosed with this syndrome and also suffered from multiple cerebral infarctions. This patient showed no evidence of monoclonal gammopathy and failed to have electromyography examined. The final diagnosis was established with the help of the axillary lymph node biopsy. As a rare case of POEMS syndrome without evidence fulfilling the major mandatory diagnostic criteria and with cerebrovascular involvement, its characteristics was discussed with a brief literature review in order to facilitate further understanding of the POEMS syndrome. PMID:26722578

  7. Clinical and oral findings in an Afro-Brazilian family with Gorlin-Goltz syndrome: case series and literature review.

    PubMed

    da Silva Pierro, Viviane Santos; Marins, Marcello Roter; Borges de Oliveira, Renata Cabral; Cortezzi, Wladimir; Janini, Maria Elisa; Maia, Lucianne Cople

    2015-01-01

    Gorlin-Goltz syndrome (GGS) seems to be unusual in black persons. The authors present an Afro-Brazilian family case report of GGS. The main complaint of the index case was a painless swelling of the left mandible, which was diagnosed as an odontogenic keratocyst. Further classical features of the Syndrome were present in this patient. Other two family members were diagnosed as cases of GGS and one of them presented 11 clinical findings characteristic of the syndrome. From the three cases reported, two of them presented five major diagnostic criteria for the GGS, and the diagnosis was only made because of an oral complaint. This case series emphasizes the importance of carefully examining the patient and close relatives for signs of GGS, even if they belong to an ethnic group in which this diagnosis is unusual. PMID:25039802

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

    PubMed Central

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

    2014-01-01

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

  9. Zinsser-Cole-Engmann syndrome: A rare case report with literature review.

    PubMed

    Chalkoo, Altaf H; Kaul, Vibhuti; Wani, Lateef A

    2014-07-01

    Zinsser-Cole-Engmann syndrome, more commonly known as Dyskeratosis Congenita, is a heritable genodermatosis having an estimated incidence of 1 in 1 million people. It is important for an oral physician to be aware of this condition as oral leukoplakia occurs in this condition as part of a classic triad along with reticulate skin pigmentation and nail dystrophy. Besides these, there may be myriad multisystem involvement as well. These individuals have a high predilection for developing malignancies as well as other grave life-threatening conditions. Timely diagnosis and management of these cases may help improve their morbidity and mortality, for which oral physicians can play a major role in recognizing the cases. This will only be possible when more of such cases are reported in dental literature. Here we present a case report of a 30 year old male patient who reported to our department with all the characteristic features of the triad and a few additional findings concordant to the disease as well. Key words:Zinsser-Cole-Engmann syndrome, Dyskeratosis Congenita, leukoplakia, genodermatosis, skin pigmentation, nail dystrophy, progeria, hematological disturbances. PMID:25136436

  10. Psychosocial Factors Associated with Polycystic Ovary Syndrome: a Case Control Study

    PubMed Central

    Sayyah-Melli, Manizheh; Alizadeh, Mahasti; Pourafkary, Nosratollah; Ouladsahebmadarek, Elaheh; Jafari-Shobeiri, Mehri; Abbassi, Jaleh; Kazemi-Shishvan, Maryam alsadat; Sedaghat, Kamran

    2015-01-01

    Introduction: Polycystic ovary syndrome (PCOS) is a disorder in women of reproductive age. Psychosocial factors can play a role in PCOS. Methods: To determine the psychosocial factors associated with PCOS in a case control study, 742 PCOS cases were compared to 798 women without PCOS for psychiatric disorders and social conditions. The data were collected using a validated questionnaire of the Minnesota Multiphasic Personality Inventory (MMPI). The Primary Care Evaluation of Mental Disorders. Patient Health Questionnaire (DSM-IV) was used to diagnose major psychopathological disorders and other depressive and anxiety syndromes. The suspected psychopathology was evaluated by a clinical psychiatrist. Results: There was a significant difference between cases and controls in education level (71.8% vs. 80.4%; (P<0.001), and employment status (60% vs. 53%; P=0.01) (respectively). Chronic anxiety (35.7% vs. 26.8%; P<0.001), depression (18.9% vs. 7.9 %; P<0.001), anxiety disorders (7.7% vs. 3.3%; P<0.001), and personality disorders (2.9% vs. 1.7%; P=0.01), were higher in the PCOS patients compared controls, respectively. Conclusion: The results showed that chronic anxiety and depression were the most pscycologic pattern in PCO patients. Lower educational level and unemployment were higher in the cases than controls. PMID:26464839

  11. Down syndrome

    MedlinePLUS

    Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. ... In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. ...

  12. Treatment considerations in hutchinson-gilford progeria syndrome: a case report.

    PubMed

    Hazan-Molina, H; Dror, Aizenbud D

    2015-01-01

    Hutchinson-Guilford progeria syndrome is an extremely rare condition classified as one of the premature ageing syndromes. This case presents a 16-year-old Israeli female patient, suffering from a variant of Hutchinson-Guilford progeria with a history of treatment with oral biphosphnates. The patient presented with typical cranial and facial features of the syndrome including delayed teeth eruption and root development probably due to insufficient jaw growth and severs retrognatic position of the maxilla and mandible. Orthodontic treatment considerations are described along with those required in light of the previous treatment by oral biphosphonates.All primary teeth were extracted in three appointments while creating as minimal trauma as possible to the surrounding tissue and alveolar bone. For now, the patient refuses to begin the orthodontic treatment course. There are no limitations to conduct any dental procedures in progeria patients, however, extreme caution must be exercised during oral surgery due to the inelasticity of tissues and dermal atrophy. Orthodontic procedure commencement should be early enough to manage the delayed development and eruption of teeth. Patients taking oral biphosphonates should be advised of this potential complication. If orthodontic treatment is considered appropriate, plans should be assessed and modified to include compromises. PMID:25823488

  13. Rheumatoid myositis leading to acute lower extremity compartment syndrome: a case-based review.

    PubMed

    Jo, Daniel; Pompa, Tiffany; Khalil, Ambreen; Kong, Frank; Wetz, Robert; Goldstein, Mark

    2015-10-01

    Muscle pain and weakness in a rheumatoid arthritis (RA) patient has a broad differential, and myositis should be considered early in the disease course as serious limb and life-threatening sequelae may occur. A 55-year-old woman with a past medical history of methotrexate-controlled RA presented with right leg pain for 4 days. The patient suffered sensory loss in the right foot and decreased strength in the toes. Lab tests revealed elevated creatine kinase, ESR, and anti-rheumatoid factor antibody titers. CT scan revealed myositis of posterior compartment muscles. Progressive edema, pain, and neuromuscular deficits persisted despite steroid and antibiotic therapy, so the patient was taken for urgent fasciotomy for acute compartment syndrome. The muscle biopsy showed diffuse mononuclear cell infiltration as well as perivascular and perineural involvement consistent with rheumatoid myositis (RM). The patient did well post-op on a prednisone taper. This case underlines the systemic nature of RA and exemplifies the severity of inflammation that may lead to grave consequences such as compartment syndrome. The histopathology is diagnostic when there is evidence of mononuclear cell infiltration; however, this is not entirely specific. Early, aggressive therapy with immunosuppressives is warranted in such patients. RM has not, to our knowledge, been recorded to cause acute compartment syndrome. Clinicians should be aware of this uncommon manifestation of RA keeping the various presentations of rheumatoid disease in mind when faced with these patients. PMID:24810700

  14. Locked jaw syndrome in dogs and cats: 37 cases (1998-2005).

    PubMed

    Gatineau, Matthieu; El-Warrak, Alexander O; Marretta, Sandra Manfra; Kamiya, D; Moreau, Maxime

    2008-03-01

    A consecutive series of cases of dogs and cats with locked jaw syndrome (inability to open or close the mouth) are reported in this study. Dogs were significantly overrepresented (84.0%) and adult dogs were more frequently affected (81.0%). Temporomandibular joint ankylosis due to fracture was the most common cause (54.0%) of locked jaw syndrome. Additional potential causes of locked jaw syndrome are masticatory muscle myositis, neoplasia, trigeminal nerve paralysis and central neurological lesions, temporomandibular joint luxation and dysplasia, osteoarthritis, retrobulbar abscess, tetanus, and severe ear disease. Treatment of locked jaw is directed towards the primary cause. It is important to treat the tonic spasm in order to minimize periarticular fibrosis. Surgical intervention is recommended for temporomandibular joint ankylosis. Masticatory muscle myositis treatment is initiated by gradually opening the mouth, with medical treatment based on immunosuppressive therapy. Fracture and masticatory muscle myositis are associated with a relatively good prognosis in regard to short-term outcome as compared to animals with central neurologic lesions or osteosarcoma which have a poor prognosis. PMID:18512621

  15. Nonarteritic anterior ischemic optic neuropathy associated with chronic anemia: a case series of myelodysplastic syndrome patients

    PubMed Central

    Brouzas, Dimitrios; Charakidas, Antonios; Ladas, Ioannis; Apostolopoulos, Michael

    2009-01-01

    Introduction: We report on three cases of visual loss due to nonarteritic anterior ischemic optic neuropathy that developed during the course of refractory anemia, a subtype of myelodysplastic syndrome. Patients and methods: Patients underwent fundus, visual field examination, and fluorescein angiography. A thrombophilic tendency investigation including prothrombin time, partial thromboplastin time, protein C, free protein S, and antithrombin III, polymerase chain reaction and hybridisation to allele-specific oligonucleotide probes and a bone marrow biopsy were also performed. Results: Relative recovery of visual function was noted in two patients, a 58-year-old man and a 67-year-old woman, whereas the vision of the third patient, a 62-year-old man, showed only marginal improvement during the follow-up period. Two patients received vigorous blood transfusion during hospitalization, while dosage adjustment of the erythropoietin infusion was decided for the third one. Thrombophilic tendency was not identified in any patient. Discussion: Chronic anemia, as presented in myelodysplastic syndrome’s refractory anemia subtype, probably in the presence of additional factors, such as hypotension, is likely to be complicated by optic neuropathy, possibly through a mechanism of anemic hypoxia and/or microvascular insufficiency. PMID:19668557

  16. Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report.

    PubMed

    Alves, Daniel Berretta; Silva, Juliana Melo; Menezes, Tatiany Oliveira; Cavaleiro, Rosely Santos; Tuji, Fabrício Mesquita; Lopes, Marcio Ajudarte; Zaia, Alexandre Augusto; Coletta, Ricardo Della

    2014-03-16

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. HGPS has an estimated incidence of one in four million to one in eight million births. The main clinical features of HGPS include short stature, craniofacial dimorphism, alopecia, bone fragility, and cardiovascular disorders. The most frequent cause of death is myocardial infarction at a mean age of 13 years old. Dental manifestations include delayed development and eruption of teeth, discoloration, crowding and rotation of teeth, and displaced teeth. Cone beam computed tomography images revealed the absence of the sphenoid, frontal, and maxillary sinus, flattening of the condyles and glenoid fossa, and bilateral hypoplasia of the mandibular condyles. The disease is caused by mutations in lamin A/C (LMNA). Here, we present a case report of an 11-year-old boy with classical features of HGPS, which was caused by a de novo germ-line mutation (C1824T, G608G) in exon 11 of the LMNA gene. Some uncommon HGPS-associated features in our patient, such as alterations in the facial sinuses and hypoplasia of the condyles, contributed to the expansion of the phenotypic spectrum of this syndrome from a dentomaxillofacial perspective. PMID:24653988

  17. An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment.

    PubMed

    Harada, Tatsuhiko; Ishimatsu, Yuji; Nakashima, Shota; Miura, Shiro; Tomonaga, Masaomi; Kakugawa, Tomoyuki; Hara, Shintaro; Sakamoto, Noriho; Yoshii, Chiharu; Mukae, Hiroshi; Kawabata, Yoshinori; Kohno, Shigeru

    2014-01-01

    Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder, the most common complication of which influencing the prognosis is pulmonary fibrosis. In the present report, we describe an autopsy case of a Japanese woman with HPS. The patient was diagnosed at 50 years of age based on the presence of oculocutaneous albinism, hemorrhagic diathesis, ceroid-lipofuscin accumulation and pulmonary fibrosis. Although systemic steroids, immunosuppressants and pirfenidone were administered for pulmonary involvement, she died from respiratory failure two years later. Obtaining an early diagnosis and taking into consideration the need for lung transplantation is necessary in order to improve the prognosis of HPS. We herein report this very rare Japanese case of HPS with a review of the treatment approaches for HPS complicated with pulmonary fibrosis. PMID:25447654

  18. Imaging diagnosis for left ventricular thrombosis in idiopathic hypereosinophilic syndrome: two case reports.

    PubMed

    He, Yu-Quan; Zhao, Ya-Nan; Zhu, Jin-Ming; Zhang, Meng-Chao; Liu, Lin; Zeng, Hong; Yang, Ping

    2014-10-01

    Idiopathic hypereosinophilic syndrome (IHES) is a rare disease that is frequently associated with cardiac thrombosis and endocardial wall thickness. This case report describes 2 patients who had IHES associated with left ventricular (LV) thrombi. The patients' symptoms are atypical. Peripheral blood and bone marrow tests showed markedly elevated eosinophils. Electrocardiography showed ischemic changes in both patients. Negative computed tomography (CT) angiography excluded coronary artery stenosis. Transthoracic echocardiography (TTE), conventional multislice spiral CT, gemstone spectral CT, and cardiac magnetic resonance imaging were used to identify the LV intraluminal thrombus and endocardial thickening, and the diagnostic values of each imaging method were analyzed and compared. These patients were clinically diagnosed as "IHES, LV thrombosis, NYHA heart function classification I." Both patients received oral prednisone and warfarin therapy. At 5 month follow-up, TTE rechecks showed that the size of the LV thrombotic lesion was reduced in the first case but substantially increased in the second case. PMID:25275526

  19. Immune responses associated with chronic fatigue syndrome: a case-control study.

    PubMed

    Mawle, A C; Nisenbaum, R; Dobbins, J G; Gary, H E; Stewart, J A; Reyes, M; Steele, L; Schmid, D S; Reeves, W C

    1997-01-01

    An exploratory case-control study was conducted to assess whether the many reported differences in the immune function of chronic fatigue syndrome (CFS) patients are detectable in rigorously defined cases of CFS. Although many studies have reported differences between cases and controls in various measures of immune function, none of these differences were found in all studies. In this study, no differences were found in white blood cell numbers; immune complex, complement, or serum immunoglobulin levels; delayed type hypersensitivity and allergic responses; NK cell function; and proliferative responses to mitogens and antigens. Marginal differences were detected in cytokine responses and in cell surface markers in the total CFS population. However, when the patients were subgrouped by type of disease onset (gradual or sudden) or by how well they were feeling on the day of testing, more pronounced differences were seen. PMID:8985207

  20. Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder.

    PubMed

    Yasuda, Eriko; Fushimi, Kazunari; Suzuki, Yasuyuki; Shimizu, Katsuji; Takami, Tsuyoshi; Zustin, Jozef; Patel, Pravin; Ruhnke, Kristen; Shimada, Tsutomu; Boyce, Bobbie; Kokas, Terry; Barone, Carol; Theroux, Mary; Mackenzie, William; Nagel, Barbara; Ryerse, Jan S; Orii, Kenji E; Iida, Hiroki; Orii, Tadao; Tomatsu, Shunji

    2013-07-01

    Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase, which results in systemic accumulation of glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. Accumulation of these GAGs causes characteristic features as disproportionate dwarfism associated with skeletal deformities, genu valgum, pigeon chest, joint laxity, and kyphoscoliosis. However, the pathological mechanism of systemic skeletal dysplasia and involvement of other tissues remain unanswered in the paucity of availability of an autopsied case and successive systemic analyses of multiple tissues. We report here a 20-year-old male autopsied case with MPS IVA, who developed characteristic skeletal features by the age of 1.5 years and died of acute respiratory distress syndrome five days later after occipito-C1-C2 cervical fusion. We pathohistologically analyzed postmortem tissues including trachea, lung, thyroid, humerus, aorta, heart, liver, spleen, kidney, testes, bone marrow, and lumbar vertebrae. The postmortem tissues relevant with clinical findings demonstrated 1) systemic storage materials in multiple tissues beyond cartilage, 2) severely vacuolated and ballooned chondrocytes in trachea, humerus, vertebrae, and thyroid cartilage with disorganized extracellular matrix and poor ossification, 3) appearance of foam cells and macrophages in lung, aorta, heart valves, heart muscle, trachea, visceral organs, and bone marrow, and 4) storage of chondrotin-6-sulfate in aorta. This is the first autopsied case with MPS IVA whose multiple tissues have been analyzed pathohistologically and these pathological findings should provide a new insight into pathogenesis of MPS IVA. PMID:23683769