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1

Bardet-Biedl syndrome.  

PubMed

This case report describes the presentation of a patient with Bardet-Biedl syndrome. Bardet-Biedl Syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. Cognitive deficit has also been considered part of the syndrome. The historically associated Laurence-Moon syndrome includes spastic paraparesis but not the obesity and polydactyly. They are now considered separate conditions. The most common feature of Bardet-Biedl syndrome is retinal dystrophy. The appearance of the retina in the condition is quite variable with typical retinitis pigmentosa being present in only a minority of cases. The associated optic atrophy can be primary in nature and might play a role in the decreased central vision. Diagnosis of the condition is important for visual prognosis and low vision management. The renal disease often goes undetected until specific radiological testing is done after diagnosis of Bardet-Biedl syndrome. This is significant in that early death often occurs in this condition because of the renal disease. PMID:10831213

Hrynchak, P K

2000-05-01

2

Laurence-Moon-Bardet-Biedl syndrome.  

PubMed

Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. We report a case of Laurence-Moon-Bardet-Biedl syndrome with typical phenotype in conjunction with nonalcoholic steatohepatitis. The diagnosis had been missed until the patient presented at our hospital. PMID:19079403

Sahu, J K; Jain, V

2008-01-01

3

A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis  

PubMed Central

The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis. A 22 years old male patient presented with an acute onset, rapidly progressive, flaccid weakness in all four limbs. An examination revealed a moon shaped face, acanthosis nigricans, lower limb polydactyly, central obesity, small testicular size, absence of the axillary and pubic hairs, severely impaired social adaptive functioning and retinitis pigmentosa. The central nervous system examination showed hypotonia, a grade zero power and absent reflexes. The laboratory reports showed that the patient had hypokalaemia and diabetes mellitus. The literature showed hypokalaemic paralysis as a rare complication of the Bardet-Biedl syndrome. PMID:23905129

Y.M., Prasanth; Ashraf, Mohammed; B.M., Venkatesh; Menezes, Sharol; Mohan, Abraham

2013-01-01

4

Bardet-Biedl syndrome.  

PubMed

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS. The diagnosis is based on clinical findings and can be confirmed by sequencing of known disease-causing genes in 80% of patients. BBS genes encode proteins that localise to the cilia and basal body and are involved in cilia biogenesis and function. Mutations lead to defective cilia accounting in part for the pleiotropic effects observed in BBS. We provide an overview of BBS including the clinical findings, current understanding of cilia biology, and a practical approach to diagnosis, genetic counselling and up-to-date management. PMID:22713813

Forsythe, Elizabeth; Beales, Philip L

2013-01-01

5

Energy metabolism in Bardet–Biedl syndrome  

Microsoft Academic Search

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

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

2003-01-01

6

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

PubMed

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

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

2003-01-01

7

Update on the Genetics of Bardet-Biedl Syndrome  

PubMed Central

Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous, and to date 18 genes (BBS1-18) have been described. Mutations in known BBS genes account for approximately 70-80% of cases, and triallelic inheritance has been suggested in about 5%. Many minor features can be helpful in making the clinical diagnosis. Recently, the use of next-generation sequencing technologies has accelerated the identification of novel genes and causative disease mutations in known genes. This report presents a concise overview of the current knowledge on clinical data in BBS and the progress in molecular genetics research. A future objective will be the development of BBS diagnosis kits in order to offer genetic counseling for families at risk. PMID:24715851

M'hamdi, O.; Ouertani, I.; Chaabouni-Bouhamed, H.

2014-01-01

8

Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome.  

PubMed

The presence of hydrometrocolpos and postaxial polydactyly in a neonate can be caused by two genetic conditions; namely, McKusick-Kaufman syndrome and Bardet-Biedl syndrome. There are no distinct clinical features that allow discrimination between the two syndromes, as the cardinal features of rod-cone dystrophy, obesity, learning disability and renal dysfunction in Bardet-Biedl syndrome are age dependent. McKusick-Kaufman syndrome is characterized by vaginal atresia with hydrometrocolpos, postaxial polydactyly and congenital heart defect. Here we report an unusual presentation of Bardet-Biedl syndrome: a neonate born in a consanguineous family having an older sibling diagnosed with Bardet-Biedl syndrome presenting with postaxial polydactyly and vaginal atresia; the latter causing hydrometrocolpos, hydronephrosis and renal failure. Relief of urinary obstruction by exploratory laparotomy and aspiration of fluid, and vaginal reconstruction gradually reversed the hydronephrosis and renal failure. The patient developed end-stage renal failure towards the end of her first decade, possibly due to underlying renal pathology associated with Bardet-Biedl syndrome. PMID:18644538

Cherian, Mathew Punnachalil; Al-Sanna'a, Nouriya A; Ayyat, Faris M

2008-08-01

9

Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome.  

PubMed

Laurence-Moon-Bardet-Biedl syndome is an autosomal recessive condition characterized by retinal dystrophy, obesity, mental retardation, distal limb anomaly, hypogonadism, and renal dysfunction. The symptoms vary among families and even among affected siblings. Certain clinical signs have been used to identify subgroups of patients with this complex condition. Laurence-Moon syndrome as a distinct entity is rare and features paraplegia in the absence of polydactyly or obesity. Bardet-Biedl syndrome is characterized by distal limb anomaly, obesity, and renal involvement, but neurologic symptoms are very unusual. We report a patient exhibiting characteristic features of Bardet-Biedl syndrome in addition to cerebellar vermis hypoplasia and mega cisterna magna. PMID:12150587

Baskin, Esra; Kayiran, Sinan Mahir; Oto, Sibel; Alehan, Füsun; Agildere, A Muhtesem; Saatçi, Umit

2002-05-01

10

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

Microsoft Academic Search

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

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

2008-01-01

11

Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple  

PubMed Central

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathic human genetic disorder with variable expression that is difficult to diagnose in pregnancy without known risk factors. Homozygosity testing has been shown to be a useful tool in identifying BBS mutations and candidate genes in affected individuals. We present the first case of prenatal diagnosis of BBS in consecutive pregnancies aided by homozygosity testing via SNP microarray analysis. This case demonstrates a novel approach to the evaluation of recurrent echogenic kidneys in consanguineous couple with no significant family history. PMID:23533844

Baker, Tieneka M.; Sturm, Erica L.; Turner, Clesson E.; Petersen, Scott M.

2013-01-01

12

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes  

PubMed Central

McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmentosa (appearing usually between 10 and 20 years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental retardation. Typically, MKKS is diagnosed (and reported) in very young children, whereas the diagnosis of BBS often is delayed to the teenage years.?We report here a series of nine patients diagnosed in infancy with MKKS because of the presence of vaginal atresia and postaxial polydactyly, who later developed obesity and retinal dystrophy, thus turning out to be instances of BBS.?The overlap of BBS and MKKS is a real diagnostic pitfall and its importance has to be stressed, for genetic counselling, for clinical management and follow up, and for molecular approaches. The diagnosis of MKKS should be considered with caution in all published cases described exclusively in the neonatal period and in those with mental retardation. We strongly recommend all children seen in infancy with a diagnosis of MKKS to be re-evaluated for RP and other signs of BBS.???Keywords: Bardet-Biedl syndrome; McKusick-Kaufman syndrome; hydrometrocolpos PMID:10465109

David, A.; Bitoun, P.; Lacombe, D.; Lambert, J.; Nivelon, A.; Vigneron, J.; Verloes, A.

1999-01-01

13

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

PubMed

The primary cilium is a specialized organelle, present at the surface of most eukaryotic cells, whose main function is to detect, integrate and transmit intra- and extra-cellular signals. Its dysfunction usually results in a group of severe clinical manifestations nowadays termed ciliopathies. The latter can be of syndromic nature with multi-organ dysfunctions and can also be associated with a morbid obese phenotype, like it is the case in the iconic ciliopathy, the Bardet Biedl syndrome (BBS). This review will discuss the contribution of the unique context offered by the emblematic BBS for understanding the mechanisms leading to obesity via the involvement of the primary cilium together with identification of novel molecular players and signaling pathways it has helped to highlight. In the current context of translational medicine and system biology, this article will also discuss the potential benefits and challenges posed by these techniques via multi-level approaches to better dissect the underlying mechanisms leading to the complex condition of obesity. PMID:25388586

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

2014-11-01

14

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome  

PubMed Central

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

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

2005-01-01

15

Mutations in a Guanylate Cyclase GCY-35\\/GCY-36 Modify Bardet-Biedl Syndrome–Associated Phenotypes in Caenorhabditis elegans  

Microsoft Academic Search

Ciliopathies are pleiotropic and genetically heterogeneous disorders caused by defective development and function of the primary cilium. Bardet-Biedl syndrome (BBS) proteins localize to the base of cilia and undergo intraflagellar transport, and the loss of their functions leads to a multisystemic ciliopathy. Here we report the identification of mutations in guanylate cyclases (GCYs) as modifiers of Caenorhabditis elegans bbs endophenotypes.

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

2011-01-01

16

Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes  

PubMed Central

Purpose. Bardet-Biedl syndrome (BBS) is genetically heterogeneous with 15 BBS genes currently identified, accounting for approximately 70% of cases. The aim of our study was to define further the spectrum of BBS mutations in a cohort of 44 European-derived American, 8 Tunisian, 1 Arabic, and 2 Pakistani families (55 families in total) with BBS. Methods. A total of 142 exons of the first 12 BBS-causing genes were screened by dideoxy sequencing. Cases in which no mutations were found were then screened for BBS13, BBS14, BBS15, RPGRIP1L, CC2D2A, NPHP3, TMEM67, and INPP5E. Results. Forty-three mutations, including 8 frameshift mutations, 10 nonsense mutations, 4 splice site mutations, 1 deletion, and 20 potentially or probably pathogenic missense variations, were identified in 46 of the 55 families studied (84%). Of these, 21 (2 frameshift mutations, 4 nonsense mutations, 4 splice site mutations, 1 deletion, and 10 missense variations) were novel. The molecular genetic findings raised the possibility of triallelic inheritance in 7 Caucasian families, 1 Arabian family, and 1 Tunisian patient. No mutations were detected for BBS4, BBS11, BBS13, BBS14, BBS15, RPGRIP1L, CC2D2A, NPHP3, TMEM67, or INPP5E. Conclusions. This mutational analysis extends the spectrum of known BBS mutations. Identification of 21 novel mutations highlights the genetic heterogeneity of this disorder. Differences in European and Tunisian patients, including the high frequency of the M390R mutation in Europeans, emphasize the population specificity of BBS mutations with potential diagnostic implications. The existence of some BBS cases without mutations in any currently identified BBS genes suggests further genetic heterogeneity. PMID:21642631

Chen, Jianjun; Smaoui, Nizar; Hammer, Monia Ben Hamed; Jiao, Xiaodong; Riazuddin, S. Amer; Harper, Shyana; Katsanis, Nicholas; Riazuddin, Sheikh; Chaabouni, Habiba; Berson, Eliot L.

2011-01-01

17

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.  

PubMed

Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic neural tube defect (NTD). To date, several MKS-associated genes have been identified whose protein products affect ciliary function. Here we show that mutations in MKS1, MKS3 and CEP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic effect on mutations in known BBS-associated loci. Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. Functional studies in zebrafish showed that mks1 is necessary for gastrulation movements and that it interacts genetically with known bbs genes. Similarly, we found two families with missense or splice mutations in MKS3, in one of which the affected individual also bears a homozygous nonsense mutation in CEP290 that is likely to truncate the C terminus of the protein. These data extend the genetic stratification of ciliopathies and suggest that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum. PMID:18327255

Leitch, Carmen C; Zaghloul, Norann A; Davis, Erica E; Stoetzel, Corinne; Diaz-Font, Anna; Rix, Suzanne; Alfadhel, Majid; Al-Fadhel, Majid; Lewis, Richard Alan; Eyaid, Wafaa; Banin, Eyal; Dollfus, Helene; Beales, Philip L; Badano, Jose L; Katsanis, Nicholas

2008-04-01

18

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort  

PubMed Central

Summary Background and Objectives Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features including obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal abnormalities. The molecular genetic profile of BBS is currently being investigated after the recent identification of 14 BBS genes involved in primary cilia-linked disease. This study aims to characterize the renal and cardiovascular presentations and to analyze possible relationships between genotypes and clinical phenotypes. Design, setting, participants & measurements This clinical study was performed in a national cohort of 33 BBS patients, 22 men and 11 women, all aged >16 years (mean age 26.3 years). Results Renal abnormalities, including impairment of renal function and signs of chronic interstitial nephropathy of dysplastic nature, were documented in 82% of the patients. Cardiovascular evaluations revealed that this group of young patients had significant cardiovascular risk factors. Hypertension was found in >30% of the patients and hyperlipidemia in >60%, and almost 50% had other metabolic abnormalities. Overt diabetes was present in only 6%. With regard to genotype-phenotype correlation, patients with a mutation in the BBS6, BBS10, or BBS12 gene (10 of 33 patients) had more severe renal disease. Conclusions Our study results confirm the frequent occurrence of renal involvement in patients with BBS, underscore the high risk of cardiovascular disease in these patients, and provide new information on a possible genotype-phenotype correlation. PMID:20876674

Imhoff, Olivier; Marion, Vincent; Stoetzel, Corinne; Durand, Myriam; Holder, Muriel; Sigaudy, Sabine; Sarda, Pierre; Hamel, Christian P.; Brandt, Christian; Dollfus, Helene

2011-01-01

19

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

PubMed

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

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

2014-12-01

20

Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation  

PubMed Central

Primary cilia are conserved organelles that play crucial roles as mechano- and chemosensors, as well as transducing signaling cascades. Consequently, ciliary dysfunction results in a broad range of phenotypes: the ciliopathies. Bardet–Biedl syndrome (BBS), a model ciliopathy, is caused by mutations in 16 known genes. However, the biochemical functions of the BBS proteins are not fully understood. Here we show that the BBS7 protein (localized in the centrosomes, basal bodies and cilia) probably has a nuclear role by virtue of the presence of a biologically confirmed nuclear export signal. Consistent with this observation, we show that BBS7 interacts physically with the polycomb group (PcG) member RNF2 and regulate its protein levels, probably through a proteasome-mediated mechanism. In addition, our data supports a similar role for other BBS proteins. Importantly, the interaction with this PcG member is biologically relevant because loss of BBS proteins leads to the aberrant expression of endogenous RNF2 targets in vivo, including several genes that are crucial for development and for cellular and tissue homeostasis. Our data indicate a hitherto unappreciated, direct role for the BBS proteins in transcriptional regulation and potentially expand the mechanistic spectrum that underpins the development of ciliary phenotypes in patients. PMID:22302990

Gascue, Cecilia; Tan, Perciliz L.; Cardenas-Rodriguez, Magdalena; Libisch, Gabriela; Fernandez-Calero, Tamara; Liu, Yangfan P.; Astrada, Soledad; Robello, Carlos; Naya, Hugo; Katsanis, Nicholas; Badano, Jose L.

2012-01-01

21

Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?  

PubMed

Bardet-Biedl Syndrome (BBS) is a multisystemic disorder diagnosed on the basis of a combination of primary and secondary clinical features that include retinal dystrophy, obesity, polydactyly, cognitive dysfunction, and renal malformations. We report a unique case of BBS in a 13-year old girl of African-American descent who presented with retinitis pigmentosa, obesity, polydactyly, learning disabilities, precocious puberty, hypertension, renal cysts, and Hirschprung disease. Further evaluation revealed a history of precocious puberty, which is antithetical to the common manifestations of BBS, while neuroimaging was suggestive of periventricular leukomalacia and neuro-electrophysiologic studies revealed diffuse cerebral disturbance, which may contribute to her neurological abnormalities. The patient was also diagnosed with hydrometrocolpos, a finding typical of McKusick-Kaufman Syndrome (MKKS) but infrequent in other disorders. This observation, together with recent findings in some mouse models of BBS, raises the question of whether hydrometrocolpos should be considered as an additional diagnostic criterion for BBS to be used in females in parallel to the criterion of hypogonadism in males, thereby improving diagnostic sensitivity. PMID:17558852

Toma, Hassanain S; Tan, Perciliz L; McKusick, Victor A; Katsanis, Nicholas; Adams, N A

2007-06-01

22

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

PubMed

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

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

2014-01-01

23

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

PubMed Central

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

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

2014-01-01

24

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

PubMed

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

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

2013-12-01

25

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

PubMed Central

Bardet-Biedl syndrome (BBS) is a pleiotropic, genetically heterogeneous disorder characterized by obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies, as well as hypertension and diabetes. Multiple genes are known to independently cause BBS. These genes do not appear to code for the same functional category of proteins; yet, mutation of each results in a similar phenotype. Gene knockdown of different BBS genes in zebrafish shows strikingly overlapping phenotypes including defective melanosome transport and disruption of the ciliated Kupffer's vesicle. Here, we demonstrate that individual knockdown of bbs1 and bbs3 results in the same prototypical phenotypes as reported previously for other BBS genes. We utilize the zebrafish system to comprehensively determine whether simultaneous pair-wise knockdown of BBS genes reveals genetic interactions between BBS genes. Using this approach, we demonstrate eight genetic interactions between a subset of BBS genes. The synergistic relationships between distinct combinations are not due to functional redundancy but indicate specific interactions within a multi-subunit BBS complex. In addition, we utilize the zebrafish model system to investigate limb development. Human polydactyly is a cardinal feature of BBS not reproduced in BBS-mouse models. We evaluated zebrafish fin bud patterning and observed altered Sonic hedgehog (shh) expression and subsequent changes to fin skeletal elements. The SHH fin bud phenotype was also used to confirm specific genetic interactions between BBS genes. This study reveals an in vivo requirement for BBS function in limb bud patterning. Our results provide important new insights into the mechanism and biological significance of BBS. PMID:18381349

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

2008-01-01

26

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

PubMed Central

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

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

27

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.  

PubMed

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

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

2014-05-01

28

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.  

PubMed

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBS genes have been identified and the majority of them are essential for the function of BBSome, a protein complex involved in transporting membrane proteins into and from cilia. Yet defects in the identified genes cannot account for all the BBS cases. The genetic heterogeneity of this disease poses significant challenge to the identification of additional BBS genes. In this study, we coupled human genetics with functional validation in zebrafish and identified IFT27 as a novel BBS gene (BBS19). This is the first time an intraflagellar transport (IFT) gene is implicated in the pathogenesis of BBS, highlighting the genetic complexity of this disease. PMID:24488770

Aldahmesh, Mohammed A; Li, Yuanyuan; Alhashem, Amal; Anazi, Shams; Alkuraya, Hisham; Hashem, Mais; Awaji, Ali A; Sogaty, Sameera; Alkharashi, Abdullah; Alzahrani, Saeed; Al Hazzaa, Selwa A; Xiong, Yong; Kong, Shanshan; Sun, Zhaoxia; Alkuraya, Fowzan S

2014-06-15

29

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

Microsoft Academic Search

The ciliopathies are an expanding group of disorders caused by mutations in genes implicated in the biogenesis and function of primary cilia. Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by progressive retinal degeneration, obesity, polydactyly, cognitive impairment, kidney anomalies and hypogonadism. Mutations in SDCCAG8(NPHP10) were described recently in patients with nephronophthisis and retinal degeneration (Senior-Loken syndrome; SLS). Given the

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

2010-01-01

30

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

PubMed Central

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

2011-01-01

31

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

PubMed Central

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

2013-01-01

32

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

PubMed

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

Ashkinadze, E; Rosen, T; Brooks, S S; Katsanis, N; Davis, E E

2013-06-01

33

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

PubMed

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

Loktev, Alexander V; Jackson, Peter K

2013-12-12

34

A class III myosin expressed in the retina is a potential candidate for Bardet-Biedl syndrome.  

PubMed

Class III myosins are actin-based motors with amino-terminal kinase domains. Expression of these motors is highly enhanced in retinal photoreceptors. As mutations in the gene encoding NINAC, a Drosophila melanogaster class III myosin, cause retinal degeneration, human homologs of this gene are potential candidates for human retinal disease. We have recently reported the cloning of MYO3A, a human myosin III expressed predominantly in the retina and retinal pigmented epithelium [1]. The map locus of MYO3A is close to, but does not overlap, that of human Usher's 1F [2]. Here we introduce a shorter class III myosin isoform, MYO3B, which is expressed in the retina, kidney, and testis. We describe the cDNA sequence, genomic organization, and splice variants of MYO3B expressed in the human retina. A product of 36 exons, MYO3B has several splice variants containing either one or two calmodulin binding (IQ) motifs in the neck domain and one of three predominant tail variations: a short tail ending just past the second IQ motif, or two alternatively spliced longer tails. MYO3B maps to 2q31.1-q31.2, a region that overlaps the locus for a Bardet-Biedl syndrome (BBS5) linked to markers at 2q31 [3]. PMID:11991710

Dosé, Andréa C; Burnside, Beth

2002-05-01

35

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

PubMed

Ciliopathies are heterogeneous disorders sharing different clinical signs due to a defect at the level of the primary cilia/centrosome complex. Postaxial polydactyly is frequently reported in ciliopathies, especially in Bardet-Biedl syndrome (BBS). Clinical features and genetic results observed in a pair of dizygotic twins with BBS are reported. The following manifestations were present: retinitis pigmentosa, bilateral insertional polydactyly, cognitive impairment and renal dysfunction. X-rays of the hands confirmed the presence of a 4th mesoaxial extra-digit with Y-shaped metacarpal bones. The sequencing of LZTFL1 identified a missense mutation (NM_020347.2: p.Leu87Pro; c.260T>C) and a nonsense mutation (p.Glu260*; c.778G>T), establishing a compound heterozygous status for the twins. A major decrease of LZTFL1 transcript and protein was observed in the patient's fibroblasts. This is the second report of LZTFL1 mutations in BBS patients confirming LZTFL1 as a BBS gene. Interestingly, the only two families reported in literature thus far with LZTFL1 mutations have in common mesoaxial polydactyly, a very uncommon feature for BBS. This special subtype of polydactyly in BBS patients is easily identified on clinical examination and prompts for priority sequencing of LZTFL1 (BBS17). PMID:23692385

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

2014-05-01

36

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

PubMed

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

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

2014-10-15

37

Bardet-Biedl Syndrome  

MedlinePLUS

... and Other Retinal Diseases: Talk to the Expert Videos View All VISIONS 2013 Attendee Videos Seeing Tomorrow ... CALENDAR "); jQuery("#block-views-videos-block h2").html(" VIDEOS "); jQuery("#block-block-19 h2").html(" OUR BLOG - ...

38

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping  

PubMed Central

Purpose Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare multi-organ disorder in which BBS patients manifest a variable phenotype that includes retinal dystrophy, polydactyly, mental delay, obesity, and also reproductive tract and renal abnormalities. Mutations in 14 genes (BBS1–BBS14) are found in 70% of the patients, indicating that additional mutations in known and new BBS genes remain to be identified. Therefore, the molecular diagnosis of this complex disorder is a challenging task. Methods In this study we show the use of the genome-wide homozygosity mapping strategy in the mutation detection of nine Caucasian BBS families, eight of them consanguineous and one from the same geographic area with no proven consanguinity. Results We identified the disease-causing mutation in six of the families studied, five of which had novel sequence variants in BBS3, BBS6, and BBS12. This is the first null mutation reported in BBS3. Furthermore, this approach defined homozygous candidate regions that could harbor potential candidate genes for BBS in three of the families. Conclusions These findings further underline the importance of homozygosity mapping as a useful technology for diagnosis in small consanguineous families with a complex disease like BBS. PMID:20142850

Pereiro, Ines; Pineiro-Gallego, Teresa; Baiget, Montserrat; Borrego, Salud; Ayuso, Carmen; Searby, Charles; Nishimura, Darryl

2010-01-01

39

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

PubMed

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

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

2014-07-01

40

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

PubMed Central

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

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

2013-01-01

41

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstr?m Syndromes  

PubMed Central

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

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

2012-01-01

42

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

PubMed

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

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

2013-10-15

43

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

PubMed Central

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

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

2013-01-01

44

Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 Pedigrees  

PubMed Central

Summary Bardet-Biedl syndrome (BBS) is a genetically heterogeneous recessive disease characterized primarily by atypical retinitis pigmentosa, obesity, polydactyly, hypogenitalism, and mental retardation. Despite the presence of at least five loci in the human genome, on chromosomes 2q, 3p, 11q, 15q and 16q, as many as 50% of the mutations appear to map to the BBS1 locus on 11q13. The recessive mode of inheritance and the genetic heterogeneity of the syndrome, as well as the inability to distinguish between different genetic loci by phenotypic analyses, have hindered efforts to delineate the 11q13 region as a first step toward cloning the mutated gene. To circumvent these difficulties, we collected a large number of BBS pedigrees of primarily North American and European origin and performed genetic analysis, using microsatellites from all known BBS genomic regions. Heterogeneity analysis established a 40.5% contribution of the 11q13 locus to BBS, and haplotype construction on 11q-linked pedigrees revealed several informative recombinants, defining the BBS1 critical interval between D11S4205 and D11S913, a genetic distance of 2.9 cM, equivalent to ?2.6 Mb. Loss of identity by descent in two consanguineous pedigrees was also observed in the region, potentially refining the region to 1.8 Mb between D11S1883 and D11S4944. The identification of multiple recombinants at the same position forms the basis for physical mapping efforts, coupled with mutation analysis of candidate genes, to identify the gene for BBS1. PMID:10577921

Katsanis, Nicholas; Lewis, Richard A.; Stockton, David W.; Mai, Phuong M. T.; Baird, Lisa; Beales, Philip L.; Leppert, Mark; Lupski, James R.

1999-01-01

45

Bardet–Biedl and Jeune Syndromes  

Microsoft Academic Search

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

Aoife M. Waters; Philip L. Beales

46

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

PubMed

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

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

2014-03-01

47

Genetics Home Reference: McKusick-Kaufman syndrome  

MedlinePLUS

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

48

Interaction with the Bardet-Biedl gene product TRIM32/BBS11 modifies the half-life and localization of Glis2/NPHP7.  

PubMed

Although the two ciliopathies Bardet-Biedl syndrome and nephronophthisis share multiple clinical manifestations, the molecular basis for this overlap remains largely unknown. Both BBS11 and NPHP7 are unusual members of their respective gene families. Although BBS11/TRIM32 represents a RING finger E3 ubiquitin ligase also involved in hereditary forms of muscular dystrophy, NPHP7/Glis2 is a Gli-like transcriptional repressor that localizes to the nucleus, deviating from the ciliary localization of most other ciliopathy-associated gene products. We found that BBS11/TRIM32 and NPHP7/Glis2 can physically interact with each other, suggesting that both proteins form a functionally relevant protein complex in vivo. This hypothesis was further supported by the genetic interaction and synergist cyst formation in the zebrafish pronephros model. However, contrary to our expectation, the E3 ubiquitin ligase BBS11/TRIM32 was not responsible for the short half-life of NPHP7/Glis2 but instead promoted the accumulation of mixed Lys(48)/Lys(63)-polyubiquitylated NPHP7/Glis2 species. This modification not only prolonged the half-life of NPHP7/Glis2, but also altered the subnuclear localization and the transcriptional activity of NPHP7/Glis2. Thus, physical and functional interactions between NPHP and Bardet-Biedl syndrome gene products, demonstrated for Glis2 and TRIM32, may help to explain the phenotypic similarities between these two syndromes. PMID:24500717

Ramachandran, Haribaskar; Schäfer, Tobias; Kim, Yunhee; Herfurth, Konstantin; Hoff, Sylvia; Lienkamp, Soeren S; Kramer-Zucker, Albrecht; Walz, Gerd

2014-03-21

49

McKusik Kaufman syndrome.  

PubMed

A 12-years-old male child presented with polydactyly and syndactyly of hands, hypospadias, AND undescended testes. He was a known case of Tetrology of Fallot. One important differential in our case was Bardet-Biedl syndrome, but it was ruled out due to lack of evidence of central obesity, mental retardation and retinitis pigmentosa. At this time, there is no molecular testing available to distinguish these two syndromes. PMID:24397080

Malik, Faisal Raza; Tahir, Awais; Bashir, Huma

2012-01-01

50

Prenatal diagnosis of McKusick-Kaufman/Bardet-Biedl syndrome  

PubMed Central

A 24-year-old primigravid women with no remarkable history and antenatal follow-up was referred to our clinic with the diagnosis of fetal megacystis. Ultrasound examination revealed an oval shaped hypoechoic cystic mass measuring 80×55×50 mm occupying the fetal pelvis in a female fetus. The fluid inside the cyst was heterogeneous giving a two level appearance. A normal looking urinary bladder was visualised separately which was located in normal position. Further sonographic evaluation revealed postaxial polydactyly in both hands. The fetal echocardiography and amniotic fluid index was normal. An obstetrical MRI was done for the suspicion of a hydrometrocolpos and confirmed the diagnosis. The infant was delivered by vaginal route at term. Physical examination of neonate confirmed postaxial polydactyly in hands. After birth a cystoscopy performed by the paediatric surgeons revealed a urogenital sinus and vaginal atresia. A catheter was placed in the uterine cavity to drain it. Nine months later the baby went on a ‘vaginal pull through’ operation to reconstruct the vagina and the urethra. The baby is now 3 years old and doing well. PMID:22699466

Parlakgumus, Ayse; Yalcinkaya, Cem; K?l?cdag, Esra

2011-01-01

51

Prenatal diagnosis of McKusick-Kaufman/Bardet-Biedl syndrome.  

PubMed

A 24-year-old primigravid women with no remarkable history and antenatal follow-up was referred to our clinic with the diagnosis of fetal megacystis. Ultrasound examination revealed an oval shaped hypoechoic cystic mass measuring 80×55×50 mm occupying the fetal pelvis in a female fetus. The fluid inside the cyst was heterogeneous giving a two level appearance. A normal looking urinary bladder was visualised separately which was located in normal position. Further sonographic evaluation revealed postaxial polydactyly in both hands. The fetal echocardiography and amniotic fluid index was normal. An obstetrical MRI was done for the suspicion of a hydrometrocolpos and confirmed the diagnosis. The infant was delivered by vaginal route at term. Physical examination of neonate confirmed postaxial polydactyly in hands. After birth a cystoscopy performed by the paediatric surgeons revealed a urogenital sinus and vaginal atresia. A catheter was placed in the uterine cavity to drain it. Nine months later the baby went on a 'vaginal pull through' operation to reconstruct the vagina and the urethra. The baby is now 3 years old and doing well. PMID:22699466

Parlakgumus, Ayse; Yalcinkaya, Cem; Kilicdag, Esra

2011-01-01

52

Alström syndrome: insights into the pathogenesis of metabolic disorders  

Microsoft Academic Search

Genetic causes of obesity include the ciliopathies Alström syndrome and Bardet–Biedl syndrome. In these disorders, mutations cause dysfunction of the primary cilium, an organelle involved in intracellular and intercellular sensing and signaling. Alström syndrome is an autosomal-recessive disorder caused solely by mutations in ALMS1. By contrast, Bardet–Biedl syndrome is caused by mutations in at least 14 genes involved in primary

Dorothée Girard; Nikolai Petrovsky

2010-01-01

53

Impaired IGF1GH axis and new therapeutic options in Alström Syndrome patients: a case series  

Microsoft Academic Search

BACKGROUND: Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration. Alström syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs

Cristina Maria Mihai; Doina Catrinoiu; Marius Toringhibel; Ramona Mihaela Stoicescu; Negreanu-Pirjol Ticuta; Hancu Anca

2009-01-01

54

Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies  

Microsoft Academic Search

Primary cilia are almost ubiquitously expressed in eukaryotic cells where they function as sensors relaying information either from the extracellular environment or between two compartments of the same cell, such as in the photoreceptor cell. In ciliopathies, a continuously growing class of genetic disorders related to ciliary defects, the modified primary cilium of the photoreceptor, also known as the connecting

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

2011-01-01

55

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

E-print Network

) is an inherited ciliopathy generally associated with severe obesity, but the underlying mechanism remains of adipogenesis par- ticipates to the pathogenesis of obesity in BBS. adipogenesis primary cilium ciliopathy is an emblematic ciliopathy with 12 genes identified to date (BBS1­BBS12), of which BBS1, BBS10, and BBS12

Paris-Sud XI, Université de

56

Patients with Bardet-Biedl syndrome have an odd combination of symptoms. The first signs  

E-print Network

, at least in part, through cilia. Cilia, it seems, can serve not only as pro- pellers but also as a sort. Scientists are now contemplating whether ciliary defects have a broader role in obesity, high blood pressure to con- nect with the surrounding environ- ment. "We hear, see, and smell with cilia," says cell

Lycan, Deborah E.

57

A case of McKusick-Kaufman syndrome  

PubMed Central

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS. PMID:21829414

Son, Se-Hyung; Kim, Yoon Joo; Kim, Eun Sun; Kim, Ee-Kyung; Kim, Han-Suk; Kim, Beyong Il

2011-01-01

58

Screening for hormonal, monogenic, and syndromic disorders in obese infants and children.  

PubMed

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

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

2014-09-01

59

McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.  

PubMed

McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. We report such a case diagnosed just before birth with a favourable outcome. From this case we describe and discuss all the prenatal sonographic signs which are not always present. On the genetic side, the gene has recently been localized together with the mutation responsible for MKKS. The phenotypic relationship between MKKS which has a good prognosis and Bardet-Biedl syndrome (BBS) with a worse prognosis requires great caution before diagnosing MKKS and a long follow-up is necessary to recognize obesity, growth retardation and pigmentary retinitis. PMID:12424774

Gaucherand, Pascal; Vavasseur-Monot, Chantal; Ollagnon, Elizabeth; Boisson, Catherine; Labaune, Jean-Marc; Basset, Thierry; Yared, George

2002-11-01

60

A Class III Myosin Expressed in the Retina Is a Potential Candidate for Bardet-Biedl Syndrome  

Microsoft Academic Search

Class III myosins are actin-based motors with amino-terminal kinase domains. Expression of these motors is highly enhanced in retinal photoreceptors. As mutations in the gene encoding NINAC, a Drosophila melanogaster class III myosin, cause retinal degeneration, human homologs of this gene are potential candidates for human retinal disease. We have recently reported the cloning of MYO3A, a human myosin III

Andréa C. Dosé; Beth Burnside

2002-01-01

61

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

Microsoft Academic Search

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

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

62

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

E-print Network

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

63

Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth  

Microsoft Academic Search

Necdin and Magel2 are related proteins inactivated in Prader-Willi syndrome (PWS), a sporadic chromoso- mal deletion disorder. We demonstrate that necdin and Magel2 bind to and prevent proteasomal degradation of Fez1, a fasciculation and elongation protein implicated in axonal outgrowth and kinesin-mediated trans- port, and also bind to the Bardet-Biedl syndrome (BBS) protein BBS4 in co-transfected cells. The inter- actions

Syann Lee; Christine L. Walker; Barbara Karten; Sharee L. Kuny; Alysa A. Tennese; Megan A. O'Neill; Rachel Wevrick

2005-01-01

64

Syndromic obesity: clinical implications of a correct diagnosis  

PubMed Central

Background Although individual occurrence is rare, syndromic obesity with mental retardation has been reported in conjunction with 140 different diseases. Case presentation The patient was born at term after a pregnancy complicated by threatened miscarriage. A diagnosis of Bardet-Biedl syndrome (BBS; OMIM #209900) was made in another hospital when she was 8 years old, but other clinical problems emerged subsequently. She came to our attention for the first time when she was 14 years old. The clinical picture, characterized by the presence of ophtalmological, renal, endocrinological, and liver disorders associated with a peculiar weight growth pattern, was more suggestive for Alström syndrome (ALMS; OMIM #203800); consequently, a genetic study was performed. Genetic analysis revealed a novel compound heterozygous frameshift mutation on exon 8 of ALMS1 (c. [3251_3258delCTGACCAG] and c. [6731delA]), which has not previously been described. Conclusion Early onset of retinal degeneration associated with obesity represents a diagnostic challenge in paediatric and genetic practice, although the absence of skeletal abnormalities and developmental delay could help in addressing the clinical diagnosis. Confirmation of clinical suspicion by genetic analysis has been diriment in this case, since only a single gene is known to cause ALMS. PMID:24690487

2014-01-01

65

Cep70 and Cep131 contribute to ciliogenesis in zebrafish embryos  

E-print Network

signalling and development. In a number of human diseases, such Bardet-Biedl syndrome, centrosome/cilium proteins are mutated, leading to polycystic kidney disease, situs inversus, and neurological problems, amongst other symptoms. Results We describe...

Wilkinson, Christopher J; Carl, Matthias; Harris, William A

2009-03-02

66

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

PubMed

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

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

2014-01-01

67

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.  

PubMed

Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational analysis of our multiethnic cohort of 83 families (105 cases); 75.9% of them have their mutations identified including 26 novel changes. Comprehensive phenotyping of these patients demonstrate that the spectrum of clinical features is greater than expected and overlapped with the features of other ciliopathies; specifically Alström and McKusick-Kauffman syndromes. PMID:21344540

Deveault, Catherine; Billingsley, Gail; Duncan, Jacque L; Bin, Jenea; Theal, Rebecca; Vincent, Ajoy; Fieggen, Karen J; Gerth, Christina; Noordeh, Nima; Traboulsi, Elias I; Fishman, Gerald A; Chitayat, David; Knueppel, Tanja; Millán, José M; Munier, Francis L; Kennedy, Debra; Jacobson, Samuel G; Innes, A Micheil; Mitchell, Grant A; Boycott, Kym; Héon, Elise

2011-06-01

68

Klinefelter syndrome: Case report  

PubMed Central

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

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

2010-01-01

69

Kabuki syndrome: a case report.  

PubMed

This article reports the case of an 8-year-old female with Kabuki syndrome and the oral/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese population. PMID:17142329

Lung, Z H S; Rennie, A

2006-12-01

70

Apical ballooning syndrome (Takotsubo Syndrome): case report  

PubMed Central

Introduction The apical ballooning syndrome (ABS) is a single reversible cardiomyopathy often triggered by a stressful event. We aimed to present a case report regarding this disorder. Case presentation Here we present the case of a 77-year-old female hypertensive patient, sedentary and non-smoker, diagnosed with apical ballooning syndrome. We describe the clinical signs and symptoms, changes in markers of myocardial necrosis and changes in the electrocardiogram and coronary angiography. Conclusion The course of events patient showed clinical improvement with treatment and support was not necessary to administer specific medications or interventions to reverse the situation. After hemodynamic stabilization coronary angiography showed no obstructive lesions and left ventricle with akinesia of the apex and the middle portion of the left ventricle. PMID:23597307

2013-01-01

71

Genome Biology 2006, 7:R126 commentreviewsreportsdepositedresearchrefereedresearchinteractionsinformation  

E-print Network

and ciliopathy genes in Caenorhabditis elegans through comparative genomics Nansheng Chen*, Allan Mah, Oliver E genes in C. elegans, some of which may be orthologs of unidentified human ciliopathy genes. Results involved in human ciliopathies, including Bardet-Biedl Syndrome (BBS), since the C. elegans orthologs

Swoboda, Peter

72

Delleman (Oculocerebrocutaneous) Syndrome: Case report  

PubMed Central

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

Ortiz-Basso, Tomas; Vigo, Rodolfo; Iacouzzi, Sebastian; Premoli, Jorge

2014-01-01

73

SUBSCAPULARIS SYNDROME: A CASE REPORT  

PubMed Central

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

Donatelli, Robert A.; Bascharon, Randa

2013-01-01

74

Frey's syndrome after condylar fracture: case report  

Microsoft Academic Search

Frey's syndrome is the occurrence of hyperesthesia, flushing and warmth or sweating over the distribution of the auriculotemporal nerve and\\/or greater auricular nerve while eating foods that produce a strong salivary stimulus. Frey's syndrome is also known as auriculotemporal syndrome and gustatory sweating. We present a case of Frey's syndrome after a condylar fracture and its treatment by internal rigid

Cassio Edvard Sverzut; Alexandre Elias Trivellato; Elis Cristina; Souza SERRA; Emanuela Prado FERRAZ

2004-01-01

75

A Case of Blau Syndrome  

PubMed Central

We present a case of systemic granulomatous disorder/Blau syndrome. A patient was seen at our clinic with a diagnosis of Juvenile Idiopathic Arthritis (JIA). He was diagnosed with polyarticular JIA when he was two years old, at that time primary manifestations included inflammation of the hand and wrist joints bilaterally, later he developed ocular symptoms, which were attributed to JIA. He had liver, skin, pulmonary manifestations, and diagnostic workup including biopsy revealed granulomatous inflammation of these sites. During the diagnostic workup, he had worsening of ocular complaints, retinal exam showed panuveitis with multifocal choroiditis. These ocular findings are not seen in JIA, this, along with his other systemic manifestations, led us to revisit the diagnosis. Laboratory testing for genetic mutation for Blau syndrome was done and came back positive. Now all of his systemic findings were placed under one umbrella of systemic granulomatous syndrome/Blau syndrome. Due to worsening of ocular manifestations, he was started on Adalimumab with marked improvement of ocular and systemic manifestations and is followed by team that consists of Rheumatologist, Ophthalmologist, and Gastroenterologist. PMID:24876985

Chauhan, Krati; Michet, Clement

2014-01-01

76

[Fraser syndrome. A case report].  

PubMed

Fraser syndrome is a rare autosomal recessive disorder; the most consistent features are cryptophthalmos, syndactyly of fingers and toes, laryngeal stenosis, and urogenital abnormalities. We report a newborn case at day 1 of life who had multiple abnormalities, born from a consanguineous marriage. Clinically, the newborn had an ankyloblepharon on the left side, a cryptophthalmos on the right side, a syndactyly, anorectal abnormalities with ambiguous genitalia, laryngeal stenosis, and ear malformations. TDM of the cranium and orbits and the transfontanel ultrasound were normal. The abdominal ultrasound showed renal abnormalities. Right eye surgery showed a reduced cornea to an opaque thin plate clinging to the iris without an anterior chamber and a nonindividualized eyeball. The authors discuss the morphological abnormalities, the clinical and paraclinical aspects of this syndrome, its multispecialized clinical management, and the importance of prenatal diagnosis. PMID:16523162

Allali, B; Hamdani, M; Lamari, H; Rais, L; Benhaddou, M; Kettani, A; Lahbil, D; Amraoui, A; Zaghloul, K

2006-02-01

77

A rare case report: SCARF syndrome  

PubMed Central

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

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

2014-01-01

78

Cornelia De Lange Syndrome: A Case Report  

Microsoft Academic Search

Cornelia de Lange syndrome (CdLS) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. The diagnosis of this syndrome is clinical. The patient of the present case report was the second case of CdLS from Iran; only a few cases of CdLS have thus

Mohammad Yousef; Aarabi Moghaddam; Hojatollah Mortezaian; Seyed Reza Miri

79

Apert syndrome with omphalocele: A case report.  

PubMed

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. Birth Defects Research (Part A), 100:726-729, 2014. © 2014 Wiley Periodicals, Inc. PMID:25045033

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

2014-09-01

80

CLINICAL SECTION Kabuki syndrome: a case report  

Microsoft Academic Search

This article reports the case of an 8-year-old female with Kabuki syndrome and the oral\\/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese

Z. H. S. Lung; A. Rennie

81

[HELLP syndrome. Analysis of 2 cases].  

PubMed

HELLP syndrome (Hemolysis, Elevated Liver Enzymes, Low Platelets), one of the gestational diseases of the third trimester of pregnancy associated to eclampsia or preeclampsia, has a varied clinical expression, that include poor symptomatic patterns with malaise and/or dyspepsia, even several patterns with fatal outcome. We show two cases with clinical and laboratory criterion of HELLP syndrome, but with different clinical presentations. It's analyzed the pathogenicity, clinical-pathological expression, course and therapeutics options in HELLP syndrome. PMID:9780803

Rivera, A; Alcaín, G; Camargo, R; Alcántara, R; Fraile, J M; Andrade, R J; Franquelo, E

1998-09-01

82

Williams-Beuren's Syndrome: A Case Report.  

PubMed

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

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

2012-01-01

83

Significance of bifid epiglottis.  

PubMed

Bifid epiglottis is a rare anomaly, which is heterogeneous and is often associated with other anomalies, particularly polydactyly. It has been reported in 40% of patients with Pallister-Hall syndrome and rarely in other syndromes. We report two brothers with bifid epiglottis who also have features suggestive of Bardet-Biedl syndrome. We also review the features seen in 22 patients reported in the literature with bifid epiglottis. No patient had bifid epiglottis as an isolated anomaly. Other malformations include clefts, micropenis, renal abnormalities, anal malformations, hypospadias, hypothalamic hamartomas, hypopituitarism, heart defects, and Hirschprung disease. Bifid epiglottis may be an under-recognized feature of Bardet-Biedl syndrome and should be considered in these patients, particularly if there are airway symptoms. Many of the anomalies associated with bifid epiglottis have potentially serious consequences and thus, a thorough evaluation of the patient with bifid epiglottis is warranted. PMID:15782417

Stevens, Cathy A; Ledbetter, Joel C

2005-05-01

84

Treacher Collins syndrome: a case report.  

PubMed

Treacher Collins syndrome is a rare autosomal dominant disorder of craniofacial development. The fully expressed phenotype exhibits characteristic dysmorphic features involving the face, eyes, mandible and ears. We report a case of a 17-year-old woman presenting with the typical orofacial implications of this syndrome. PMID:23709540

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

2013-01-01

85

Poland syndrome: rare presentation in two cases.  

PubMed

Poland syndrome was first described in 1840 by Alfred Poland while still a medical student and the other components of the syndrome were described at London Guy's Hospital following the dissection of a cadaver's hand, which had hypoplasia and syndactyly. The incidence of Poland syndrome has been reported to be 1 in 30,000 live births. In the present case report, two Poland syndrome patients with ipsilateral hypomastia and a reduction in the axillary/pectoral hairs diagnosed during adulthood are presented; one patient was affected on the left side and had widespread cafe au lait spots, and the other patient had respiratory dysfunction due to multiple rib anomalies. PMID:20927162

Gocmen, Hayrettin; Akkas, Yucel; Doganay, Selim

2010-08-27

86

A new case of MOMO syndrome.  

PubMed

MOMO syndrome, a condition described in three earlier patients, is a constellation of macrosomia, obesity, macrocephaly, and ocular abnormalities as the main findings. We report a 6-year-old child with these findings as well as significant developmental issues, delayed bone age, clavicular pseudoarthrosis, and straight femurs. We believe that this child should be considered as having MOMO syndrome. Careful consideration of his facial features shows some overlap with Kabuki syndrome. Description of this case may help to better elucidate the clinical features of MOMO syndrome. PMID:19996736

Wallerstein, Robert; Sugalski, Rachel D

2010-01-01

87

Restoration of renal function in zebrafish models of ciliopathies  

Microsoft Academic Search

The ciliopathies are a class of rare human genetic disease whose aetioligies lie in defective primary cilia. Typical ciliopathies\\u000a include Bardet–Biedl syndrome (BBS), nephronophthisis (NPHP), Jeune, Joubert, oro-facial-digital (OFD1) and Meckel (MKS) syndromes.\\u000a All ciliopathies have the common denominator of renal disease, often including tubular cysts. In this study, we have modelled\\u000a a range of ciliopathies in zebrafish and shown

Jonathan L. Tobin; Philip L. Beales

2008-01-01

88

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform  

Microsoft Academic Search

Bardet-Biedl Syndrome (BBS) is a heterogeneous syndromic form of retinal degeneration. We have identified a novel transcript of a known BBS gene, BBS3 (ARL6), which includes an additional exon. This transcript, BBS3L, is evolutionally conserved and is expressed predominantly in the eye, suggesting a specialized role in vision. Using antisense oligonucleotide knockdown in zebrafish, we previously demonstrated that bbs3 knockdown

Pamela R. Pretorius; Lisa M. Baye; Darryl Y. Nishimura; Charles C. Searby; Kevin Bugge; Baoli Yang; Robert F. Mullins; Edwin M. Stone; Val C. Sheffield; Diane C. Slusarski

2010-01-01

89

Williams syndrome and psychosis: a case report  

PubMed Central

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

2014-01-01

90

Apert's syndrome: Report of a rare case  

PubMed Central

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

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

2013-01-01

91

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

PubMed Central

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

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

2013-01-01

92

Case series on tropical diabetic hand syndrome.  

PubMed

Tropical diabetic hand syndrome is a term used to describe diabetes complication of the hand affecting people in the tropics. It consists of localized cellulitis with variable swelling and ulceration of the hands, progressive, fulminant hand sepsis and gangrene in extreme cases. This syndrome is not well-recognized and is therefore less frequently reported. The authors describe three different female patients who were known diabetics of varying duration presenting with this syndrome at our tertiary health center and who were successfully managed by both the surgical and medical units. The need for early diagnosis and aggressive management is emphasized. PMID:24909485

Ezeani, I U; Edo, A E

2014-01-01

93

Papillon-Lefevre syndrome: A case report  

PubMed Central

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

Pavankumar, Kalwa

2010-01-01

94

Mazabraud's syndrome: case report and literature review  

PubMed Central

Mazabraud's syndrome is a rare disorder characterized by the association of single or multiple intramuscular myxomas with fibrous dysplasia. Here, we present the first case of Mazabraud's syndrome visualized on 18F-FDG PET/CT with histopathological confirmation of the myxoma. Our case demonstrates a slightly increased FDG uptake (SUVmax 2.1) within the myxomas and a moderately to highly increased tracer uptake (SUVmax 7.0) within the fibrous dysplastic lesions. The typical histological appearance of the intramuscular myxoma confirmed the radiological diagnosis. Further, we discuss the imaging findings and the histopathological features of this rare case with a review of the related literature. PMID:24198959

Munksgaard, Peter Svenssen; Salkus, Giedrius; Iyer, Victor V; Fisker, Rune Vincents

2013-01-01

95

Postaxial acrofacial dysostosis (Miller) syndrome: a new case.  

PubMed

We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain. PMID:1683410

Vigneron, J; Stricker, M; Vert, P; Rousselot, J M; Levy, M

1991-09-01

96

Vanishing Testis Syndrome: Report of Two Cases  

PubMed Central

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

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

2014-01-01

97

New Case of Beemer-Langer Syndrome  

Microsoft Academic Search

We present the case of a male infant born at 37 weeks gestation with multiple congenital anomalies, including hydrops fetalis,\\u000a facial and visceral abnormalities, short ribs, and short limbs without polydactyly. We believe that this represents a further\\u000a case of the Beemer-Langer syndrome, a relatively recently described form of lethal osteochondrodysplasia with an autosomal\\u000a recessive mode of inheritance. This case

Gordan M. Vujani?; Nicholas C. A. Hunt

2000-01-01

98

The eye as a window to rare endocrine disorders  

PubMed Central

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

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

2012-01-01

99

The eye as a window to rare endocrine disorders.  

PubMed

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

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

2012-05-01

100

Apical ballooning syndrome: a case report  

PubMed Central

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

2012-01-01

101

Goldenhar Syndrome: A Report of 3 Cases  

PubMed Central

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

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

2013-01-01

102

Stiff limb syndrome: a case report  

PubMed Central

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

2010-01-01

103

Harlequin syndrome in childhood - Case report*  

PubMed Central

Harlequin syndrome happens in only one side of the face. In the affected half, the face does not sweat or flush even with simulation. Arms and trunk could also be affected. This condition is induced by heat, exercise and emotional factors. The article reports a case of a nine-year-old female with a 3-year history of unilateral flushing and sweating after exercise; a brief literature review is included. Despite the rarity of this syndrome, dermatologists should recognize this condition and refer these patients to ophthalmological and neurological examination. PMID:23197213

Breunig, Juliano de Avelar; Hartmann, Mariana; Freire, Cristiano Firpo; de Almeida Jr, Hiram Larangeira

2012-01-01

104

Goldenhar Syndrome - Review with Case Series  

PubMed Central

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

Sreenivasan, Arathi; Saraswathy, Gopal K

2014-01-01

105

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

E-print Network

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

Stromswold, Karin

106

The first Japanese case of COACH syndrome.  

PubMed

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

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

2009-03-01

107

Amniotic band syndrome: a case report.  

PubMed

Amniotic band syndrome is an uncommon congenital pathological condition that may lead to malformations and foetal-infant death. We report an autoptic case. The patient was a male preterm infant. At 14 weeks of gestation, a routine ultrasonography showed severe craniofacial anomalies and a close contiguity of the foetal head with the amnios. The neonate survived three days, after which an autopsy was carried out. The infant had a frontoparietal meningoencephalocele; a fibrous band was attached to the skin, close to the meningoencephalocele base. Cleft lip and palate, nose deformation and agenesis of the right eye were also present. At the opening of the cranial cavity, occipital hyperostosis was observed. The herniated brain showed anatomical abnormalities that made identification of normal structures difficult. Microscopically, the nervous parenchyma had architectural disorganization and immaturity, and the fibrous band consisted of amniotic membranes. As evident from this case report, amniotic band syndrome may cause severe malformations and foetal-infant death. PMID:21837919

Buccoliero, A M; Castiglione, F; Garbini, F; Moncini, D; Lapi, E; Agostini, E; Fiorini, P; Taddei, G L

2011-02-01

108

A case of multiple synostoses syndrome  

Microsoft Academic Search

Summary A case of multiple synostoses syndrome is reported. The patient was a 20-year-old Japanese female who had bilateral humeroradio-ulnar synostoses, vertebral fusions, calcaneocuboid coalitions, fusions of Lisfranc's joints, symphalangism and, in addition, craniosynostosis. At present, it is not clearly known whether or not the multiple synososes with craniosynostosis and those without craniosynostosis represent different clinical entities. This problem should

Toyoshi Tsuruta; Masaharu Yamazaki; Tamotsu Yamazaki

1980-01-01

109

Stiff-Person Syndrome: Case Series  

PubMed Central

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

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

2014-01-01

110

An atypical case of Foreign Accent Syndrome.  

PubMed

A new case of Foreign Accent Syndrome is described. This American woman presented with a British- or Australian- sounding accent after stroke, which resulted in a lacunar infarct in the left internal capsule. The atypical etiology and apparent changes in lexical use are described. It is hypothesized that an abnormally tense vocal tract posture may account for phonetic changes in vowel quality and a higher average fundamental frequency. PMID:16428232

Ryalls, Jack; Whiteside, Janet

2006-01-01

111

Sipple's syndrome: A case diagnosed preoperatively  

Microsoft Academic Search

A case of familial Sipple's syndrome diagnosed preoperatively is presented. Clinically, thyroid carcinoma and its metastasis\\u000a to the cervical and upper mediastinal lymph nodes were first noticed. The diagnosis of medullary carcinoma was strongly suspected\\u000a on the physical and roentgenologic evidences unique to this variety of thyroid cancer. Clinically pheochromocytomas were asymptomatic,\\u000a but urinary catecholamine study revealed an increased epinephrine

Takao Obara; Yoshihide Fujimoto; Atsushi Oka; Masayuki Fukumitsu

1974-01-01

112

A Pediatric Case of Ramsay Hunt Syndrome  

PubMed Central

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

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

2014-01-01

113

Case report Acquired immune deficiency syndrome in  

E-print Network

The first descriptions of the acquired immune deficiency syndrome (AIDS) were from the USA in 19811-3 although it is probable the first cases occurred in 1979.2 In Great Britain the first case occurred in 1981.4 In both countries there has been an exponential rise in the numbers of cases. The syndrome is defined by the Center for Diseases Control, Atlanta, Georgia, as characterised by opportunistic infections and malignant diseases in patients without a known cause for immunodeficiency.5 There is now little doubt that the disease is caused by a human T cell lymphotrophic virus type III passed by sexual transmission or parenteral infusion of infected blood products.6 The major groups known to be at risk of acquiring the disease in the western world are homosexuals, intravenous drug abusers, haemophiliacs, Haitians, transfusion recipients of infected blood, female sexual partners of affected males and infants of affected mothers.7 The full syndrome is often preceded by a prodromal illness described as the 'AIDS-related complex ' consisting of fatigue, anorexia, weight loss, night sweats and diarrhoea. Examination reveals

Northern Ireland; W W Dinsmore; L Kennedy; D R Mccluskey; G Dalzell; R D Maw

1986-01-01

114

Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation  

PubMed Central

We report a case of Wildervanck syndrome exhibiting Klippel–Feil anomaly, Duane's retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Our case is unique as the triad was associated with frontal sinus hypoplasia, which is very rare association.

Meshram, Suwansh Sukhadeorao; Nikose, Sheetal; Jain, Shraddha; Taksande, Amar

2014-01-01

115

[Fetal Escobar syndrome--a case report].  

PubMed

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

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

2014-08-01

116

A case of atypical hemolytic uremic syndrome.  

PubMed

A 9-year-old boy presented with fever not responding to antibiotic therapy and elevated blood urea and serum creatinine levels. The patient developed microangiopathic hemolytic anemia and thrombocytopenia during the hospital stay. Kidney biopsy confirmed the diagnosis of atypical hemolytic uremic syndrome (HUS). The patient had sufficient urine output, normal blood pressure, and no evidence of peripheral edema during the whole course of his disease. Serum levels of anti-Epstein-Barr virus immunoglobulin M was elevated, indicating the possible role of Epstein-Barr virus infection in inducing atypical HUS in this patient. The patient underwent hemodialysis with dramatic response. He was discharged with normal kidney function after a few days. Kidney function and platelet count were normal 12 months after the initial presentation. This case report shows that atypical hemolytic uremic syndrome could have unusual presentations such as the absence of oliguria, hypertension, and edema, with rapid recovery and good prognosis. PMID:25001143

Fallahzadeh, Mohammad Amin; Fallahzadeh, Mohammad Kazem; Derakhshan, Ali; Shorafa, Eslam; Mojtahedi, Yusof; Geramizadeh, Bita; Fallahzadeh, Mohammad Hossein

2014-07-01

117

Stiff-man syndrome: case report.  

PubMed

Stiff-man syndrome is a rare neurologic disorder characterized by progressive, fluctuating muscle rigidity with painful muscle contractions affecting predominantly the back and proximal extremities. In the ED, the diagnosis can be easily overlooked and misdiagnosed as acute or chronic low back pain and muscle spasm. This syndrome is often associated with diabetes, autoimmune diseases, and cancer. This report describes an illustrative case of a 39-year-old woman who presented to the ED with a two-year history of right leg spasms and low back pain that had become so severe in the preceding two days that she was unable to ambulate. Clues to the patient's proper diagnosis coincide with the diagnostic criteria for stiff-man syndrome: the presence of a slowly progressive stiffness of the axial muscles and proximal limb muscles, making ambulation difficult; hyperlordosis of the lumbar spine; episodic spasms precipitated by jarring or sudden movement; a normal intellectual, sensory, and motor examination when not in spasm; and a marked amelioration of symptoms with the IV administration of diazepam. High-dose oral diazepam is the maintenance drug of choice. PMID:7584754

Kuhn, W F; Light, P J; Kuhn, S C

1995-08-01

118

Perlman syndrome: four additional cases and review.  

PubMed

Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor. PMID:10508986

Henneveld, H T; van Lingen, R A; Hamel, B C; Stolte-Dijkstra, I; van Essen, A J

1999-10-29

119

A case of treacher collins syndrome.  

PubMed

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

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

2013-12-01

120

A Case of Treacher Collins Syndrome  

PubMed Central

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

Ulusal, S; Gurkan, H; Vatansever, U; Kurkcu, K; Tozkir, H; Acunas, BA

2013-01-01

121

Neuroleptic Malignant Syndrome in an Octogenarian: A Case Report  

PubMed Central

Neuroleptic malignant syndrome is a potentially fatal and frequently undiagnosed consequence of the use of neuroleptics. We present a case report of the syndrome in an octogenarian, the second such to appear in the literature. This syndrome is reviewed and its importance in diagnosis and treatment of the elderly is indicated. PMID:21248883

Chapnick, Cary N.; Boustcha, Elizabeth M.

1989-01-01

122

A Case of Sotos Syndrome (Cerebral Gigantism) and Psychosis  

Microsoft Academic Search

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

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

2004-01-01

123

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

PubMed Central

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

Demirdoven, Mehmet; Yazgan, Hamza; Korkmaz, Mevlit; Gebesce, Arzu; Tonbul, Alparslan

2014-01-01

124

A case of Cornelia de Lange syndrome from Sudan  

Microsoft Academic Search

BACKGROUND: Brachmann de Lange syndrome (BDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. CASE PRESENTATION: Here we present for the first time a case of BDLS from Sudan, a 7-month-old female infant, who was referred as a case of malnutrition.

Mona Ellaithi; David Gisselsson; Therese Nilsson; Atif Elagib; Imad Fadl-Elmula; Mashair Abdelgadir

2007-01-01

125

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

PubMed Central

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

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

2014-01-01

126

Asperger syndrome related suicidal behavior: two case studies  

PubMed Central

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

Kocourkova, Jana; Dudova, Iva; Koutek, Jiri

2013-01-01

127

A case of “Tako-Tsubo syndrome” with postoperative shock  

PubMed Central

The “Tako-Tsubo syndrome” is a rare, transient, reversible hypokinesia of distal part of left ventricle, with normal coronary arteries. It was recently described and frequently associated with an extreme stressful event in postmenopausal women. We report a case of “Tako-Tsubo syndrome” following elective surgery for oesophageal malignancy with septic shock. Our report highlights the electrocardiographic changes with the progression of this syndrome and the challenges we faced in managing the case.

Ghatak, Tanmoy; Azim, Afzal; Baronia, Arvind K.

2013-01-01

128

Severe meconium aspiration syndrome: case report.  

PubMed

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

Koigi-Kamau, R; Kungu, E C

2006-08-01

129

Opercular syndrome: A case report and review  

PubMed Central

We present a 9-year-old boy with history of perinatal asphyxia and neonatal seizures; who presented with delayed development of speech, with predominant dysarthria, dysphagia, and drooling of saliva and unable to protrude tongue along with delayed motor and mental milestones. He had complex partial seizures since last 3 years requiring multiple anti-epileptic drugs. He had dysarthria, nasal twang, and drooling of saliva with difficulty in chewing and swallowing. Hearing and understanding were normal. Bilateral trigemino-facio-linguo-pharyngeal palsy was noticed on voluntary movements with normal jaw jerk with preserved automatic and emotional motor movements. Electroencephalography revealed focal left fronto-temporal epileptiform discharges and brain imaging was suggestive of bilateral cortical and subcortical region encephalomalacia, predominantly involving bilateral opercular region. The clinical and neuroimaging features correspond to bilateral opercular syndrome which could have resulted from the perinatal insult in this case. PMID:24082930

Desai, Soaham Dilip; Patel, Dipen; Bharani, Sheela; Kharod, Nikhil

2013-01-01

130

[Gradenigo's syndrome: a case-report].  

PubMed

Acute otitis media is the most common bacterial infection in children. Despite efficient antibiotic therapy, there are still reports of both intratemporal and intracranial complications with potential risk of high morbidity and mortality. Mastoiditis, apical petrositis and labyrinthitis are caused by the extension of purulent middle ear infection into nearby structures. Giuseppe Gradenigo first described the clinical triad of acute otitis media, unilateral pain in the region innervated by the 1 masculine and 2 masculine branches of the trigeminal nerve and ipsilateral abducens nerve paralysis. This is a serious but rare complication of middle ear infection that should be suspected in every patient with unilateral headache and abducens nerve palsy. We report a case of Gradenigo's syndrome in a 6-year-old boy. PMID:20544125

Guedes, Verónica; Gallegos, Paulina; Ferrero, Alexis; García Minúzzi, Mariana; Casanovas, Alejandra; Georgetti, Belén; Potaznik, Javier; Cairoli, Héctor; Schenone, Norma

2010-06-01

131

[Prune-Belly Syndrome: a case report].  

PubMed

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

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

2014-01-01

132

Foix-alajouanine syndrome presenting as acute cauda equina syndrome: a case report.  

PubMed

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

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

2014-12-01

133

Parry Romberg syndrome with localized scleroderma: A case report  

PubMed Central

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

Khan, Mohsin; Khan, Mubeen; Negi, Raju

2014-01-01

134

Parry Romberg syndrome with localized scleroderma: A case report.  

PubMed

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

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

2014-07-01

135

Mouse models of ciliopathies: the state of the art  

PubMed Central

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

Norris, Dominic P.; Grimes, Daniel T.

2012-01-01

136

Mouse models of ciliopathies: the state of the art.  

PubMed

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

Norris, Dominic P; Grimes, Daniel T

2012-05-01

137

Scalp-Ear-Nipple Syndrome: A Case Report  

PubMed Central

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

Morales-Peralta, Estela; Andres, Vivian; Campillo Betancourt, Daine

2014-01-01

138

Hantavirus pulmonary syndrome: Report of four Alberta cases  

PubMed Central

Four Alberta cases of hantavirus pulmonary syndrome are reported. Three cases required intensive care, with one experiencing a fulminant course resulting in death. A fourth case with milder illness was identified after epidemiological investigations. Ribavirin was used in one patient who experienced a successful outcome. A recent open label trial has not supported the efficacy of this drug. The epidemiology of Peromyscus maniculatus, the primary rodent host, and the clinical features of this syndrome are summarized. PMID:22514394

Singh, Ameeta E; Werker, Denise H; Boychuk, Lesia R; Miedzinski, Lilly J

1995-01-01

139

A case of neonatal Jeune syndrome expanding the phenotype  

PubMed Central

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

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

2014-01-01

140

Two Cases of Walker-Warburg Syndrome Complicated by Hydrocephalus  

Microsoft Academic Search

Walker-Warburg syndrome is a very rare autosomal recessive disorder with congenital muscular dystrophy, brain malformations on the basis of a neuronal migration defect and ocular abnormalities. We report our experience in treating two cases of Walker-Warburg syndrome complicated by hydrocephalus with shunting and endoscopic techniques.

M. Preuss; M. Heckmann; M. Stein; U. Nestler

2010-01-01

141

Cooks syndrome: a case report and brief review.  

PubMed

Congenital anonychia is rare, particularly when all 10 toenails are absent. When anonychia is associated with absence of distal phalanges, a diagnosis of Cooks syndrome must be considered. We present a case and discussion of a patient with congenital anonychia, absent distal phalanges, and rudimentary hypoplastic middle phalanges and brachydactyly, consistent with Cooks syndrome. PMID:22329539

Brennan, Christina B; Buehler, Tara; Lesher, Jack L

2013-01-01

142

A case of autism in a child with Apert's syndrome  

Microsoft Academic Search

.   We present the case of a 7-year-old child with Aspert's syndrome who was diagnosed as suffering from childhood autism. As\\u000a far as we are aware this is the first described association between autism and acrocephalosyndactyly syndromes. We discuss\\u000a issues regarding the diagnosis and co-morbidity of the autistic spectrum disorders.

Jaime Morey-Canellas; U. Sivagamasundari; Hilary Barton

2003-01-01

143

Churg-strauss syndrome in childhood: a case report.  

PubMed

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

Albahri, Ziad; Minxová, Lenka; Lukeš, Antonín; Mawiri, Abdul Al; Stefá?ková, Sárka

2014-10-01

144

Sweet's syndrome: histological and immunohistochemical study of 15 cases  

Microsoft Academic Search

Conventional histology and immunoperoxidase staining for fibrin, immunoglobulins, and complement components were used to look for evidence of cutaneous vasculitis and immune complex deposition in Sweet's syndrome. These features were not identified in any of the 15 cases studied. The lack of any vasculitis emphasises the distinctive character of Sweet's syndrome when compared with certain spontaneous and experimentally induced inflammatory

J J Going; S M Going; G W Beveridge

1987-01-01

145

Slit-Ventricle Syndrome: Review of 15 Cases  

Microsoft Academic Search

The slit-ventricle syndrome (SVS) has been the subject of diverse opinions and recommendations during the past 2 decades. In an effort to define the clinical features of SVS and to make recommendations concerning management we have reviewed 15 cases treated by a fairly uniform technique during the past 5 years. The syndrome consists of: (1) intermittent, but self-limiting episodes resembling

Robert L. McLaurin; Alessandro Olivi

1987-01-01

146

Case report on clozapine-associated neuroleptic malignant syndrome  

PubMed Central

Abstract This article summarizes the clinical manifestations of one case of clozapine-associated neuroleptic malignant syndrome and discusses its diagnosis, predisposing factors and treatment based on a literature review. Early identification and treatment is critical to lower the mortality of clozapine-associated neuroleptic malignant syndrome.

Wang, Yanqiong; He, Ruizhe; Zhang, Hui

2012-01-01

147

Clozapine Withdrawal Catatonia and Neuroleptic Malignant Syndrome: A Case Report  

Microsoft Academic Search

Catatonia as a clozapine withdrawal syndrome has not been documented. We report a case of excited catatonia with fever, autonomic instability, and delirium—a picture of malignant catatonia (lethal catatonia) after abrupt clozapine withdrawal. The use of conventional neuroleptics transformed the excited malignant catatonia into a stuporous state resembling neuroleptic malignant syndrome (NMS). Such a transformation of excited lethal catatonia into

Joseph W. Y. Lee; Stephen Robertson

1997-01-01

148

Neuropsychological rehabilitation in a case of Cornelia de Lange syndrome  

Microsoft Academic Search

Cornelia de Lange syndrome is a rare congenital disorder. Symptoms include a characteristic facial structure, pre- and post-natal growth deficiency, hypertrichosis, and visceral and cardiovascular anomalies. Behavioural problems and moderate to severe mental retardation are also present.In this paper, we report a mild case of Cornelia de Lange syndrome. The neuropsychological rehabilitation of this patient is also described. It was

M. C. Cossu; I. Nava; S. Leoni; L. Piccardi

2005-01-01

149

Postaxial acrofacial dysostosis or Miller syndrome. A case report.  

PubMed

A case of postaxial acrofacial dysostosis (Miller syndrome) is presented. This rare syndrome is essentially characterized by a Treacher-Collins-like facial appearance together with absence of the fifth digital ray of all limbs and variable forearm hypoplasia. PMID:2920751

Barbuti, D; Orazi, C; Reale, A; Paradisi, C

1989-02-01

150

NEUROBILOGY OF ASPERGER'S SYNDROME : A CASE STUDY AND OVERVIEW  

PubMed Central

Asperger's syndrome is an autistic spectrum disorder, which has engendered lesser attention in comparison to autism. Recent literature has focused on the involvement of cortical areas of the brain in this syndrome. We report a case of Asperger?s syndrome in which an extensive work-up, including neuropsychological, neurophysiological and neuroimaging procedures, were undertaken. The findings of the various investigative procedures are discussed and literature supporting the neurobiological basis of Asperger's syndrome is highlighted. Finally, we briefly touch upon the ‘Theory of Mind’ construct in autistic spectrum disorders. PMID:21407867

Duggal, Harpreet S.; Dutta, Siddhartha; Sinha, Vinod K.; Basu, Soumya; Pandey, Smita; Nizamie, Haque S.; Nizamie, Alka

2001-01-01

151

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

PubMed

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

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

2013-01-01

152

[Papillon-Lefèvre syndrome: a case report].  

PubMed

Papillon-Lefèvre syndrome (PLS) is a very rare syndrome of autosomal recessive inheritance characterized by palmoplantar hyperkeratosis and a severe destructive periodontitis, leading to premature loss of both primary and permanent dentitions. This article reported a boy who was diagnosed as having PLS. PMID:22332586

Chen, Yuanjiao; Ding, Yi; Liu, Minchuan

2011-12-01

153

[Yunis-Varon syndrome: a case report].  

PubMed

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

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

2012-01-01

154

Opitz trigonocephaly syndrome: Report of two cases  

Microsoft Academic Search

We report two patients with Opitz trigonocephaly syndrome. Both children showed the pattern of abnormal findings characteristic of this syndrome, including trigonocephaly, upslanted palpebral fissures, inner epicanthic folds, broad alveolar ridges, small chin, short neck with loose skin, muscular hypotonia and cardiac defect. An 8-week-old girl had multiple gingival frenula, brachydactyly, syndactyly of toes and anal stenosis in addition, while

S. D. Flatz; A. Schinzel; E. Doehring; D. Kamran; E. Eilers

1984-01-01

155

[Moebius syndrome: therapeutic proposals from 2 cases].  

PubMed

Moebius syndrome is a congenital bilateral palsy of the sixth and seventh cranial nerves. It results a total absence of facial expression and a severe strabismus. Social life is greatly disturbed. Other anomalies may be associated, especially other cranial palsies and Poland syndrome. The etiology of this syndrome isn't clearly established. Stem necrosis secondary to a vascular deficiency is often admitted. We report two observations. We emphasize the importance of a complete maxillo-facial treatment including maxillo-mandibular anomaly. Both patient underwent orthognathic surgery. The first one for class II and the second for class III anomaly. One patient underwent a facial reanimation by temporal muscle transfer. Orthognathic surgery must be realized prior to facial reanimation. A correction of the strabismus is possible. Moebius syndrome is a rare (200 observations) but very severe malformation. Maxillofacial surgery is able to improve the morphological and relational aspect of Moebius syndrome. PMID:9036517

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

1996-12-01

156

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

PubMed Central

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

Firouzi-Marani, Shahram; Khoshbin, Masoud

2014-01-01

157

Mirizzi syndrome in an anomalous cystic duct: A case report  

PubMed Central

Mirizzi syndrome is a rare complication of gallstone disease, and results in partial obstruction of the common bile duct or a cholecystobiliary fistula. Moreover, congenital anatomical variants of the cystic duct are common, occurring in 18%-23% of cases, but Mirizzi syndrome underlying an anomalous cystic duct is an important clinical consideration. Here, we present an unusual case of typeIMirizzi syndrome with an uncommon anomalous cystic duct, namely, a low lateral insertion of the cystic duct with a common sheath of cystic duct and common bile duct. PMID:17907302

Jung, Cheol Woong; Min, Byung Wook; Song, Tae Jin; Son, Gil Soo; Lee, Hong Sik; Kim, Seung Joo; Um, Jun Won

2007-01-01

158

[Normotensive HELLP syndrome: report of one case].  

PubMed

HELLP syndrome (hemolysis, elevated liver enzymes and low platelets) represents a severe form of preeclampsia associated with serious maternal and fetal morbidities and even death. Usually HELLP syndrome appears during the evolution of a severe preeclampsia; however HELLP syndrome can have atypical clinical manifestations. We report a 22-year-old female who consulted at 20 weeks of pregnancy for lumbar pain, dysuria and fever. A urinalysis revealed the presence of white blood cells. The patient was admitted to hospital and treated with antimicrobials. Forty eight hours after admission a proteinuria of 440 mg/24 h was detected. A severe pre eclampsia-HELLP syndrome was diagnosed. However the patient remained with normal blood pressure. An elevation of liver enzymes and creatinine were observed. Five days later fetal death was confirmed and an abortion was induced. The patient required a platelet transfusion. Four days after the abortion, the patient was discharged in good conditions. PMID:24718475

Garrido, María Fernanda; Carvajal, Jorge Andrés

2013-11-01

159

Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.  

PubMed

Early-onset severe retinal dystrophy can be isolated (Leber congenital amaurosis) or the first sign of an underlying systemic ciliopathy, such as Bardet-Biedl syndrome. Early recognition of those children with underlying systemic ciliopathy minimizes morbidity and mortality from later extraocular manifestations, the most common of which is renal disease. We report 2 unrelated children who presented with early-onset severe retinal dystrophy in the context of hypotonia, developmental delay, and a noticeably happy demeanor. Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome. PMID:24698627

Khan, Arif O; Bolz, Hanno J; Bergmann, Carsten

2014-04-01

160

Electrocochleographic study of a case of lermoyez's syndrome.  

PubMed

A case of Lermoyez's syndrome was investigated by tone-burst electrocochleography in both a period of impaired hearing and in a period of almost normal hearing. The changes in threshold values, compound action potential waveforms, input-output curves, and amplitude-latency curves for the compound AP, are described. The electrocochleographic data are compared with the psycho-acoustic data for this case and with electrocochleographic results in a group of 22 Meniere cases. Although the symptoms of vertogo and hearing impairment in Lermoyez's syndrome occur in the reverse sequence, as compared with the classical Menière attack, the data obtained in this case of Lermoyez's syndrome do not differ substantially from those obtained in a group of Menière cases. PMID:1136768

Schmidt, P H; Odenthal, D W; Eggermont, J J; Spoor, A

1975-01-01

161

Motor endplate remodeling in some cases with congenital myasthenic syndrome.  

PubMed

The architecture of motor endplates in three cases with congenital myasthenic syndrome (CMS) was compared with ultrastructure of the normal control neuromuscular junction (NMJ). The remodeling of postsynaptic region was observed in all three individuals. The most conspicuous abnormalities seen in the slow channel syndrome was the vacuolization and disorganization of secondary synaptic clefts which extended for beyoned the border of NMJ. Degenerated postsynaptic nuclei and junctional sarcoplasm were an additional feature of presented syndromes. The quite different feature of NMJ was observed in the DOK-7 deficient syndrome. The appearance of small, pale terminal axons, poorly developed postsynaptic membrane with the sparse secondary synaptic clefts and degenerated postsynaptic nuclei suggested impairment of postsynaptic region maturation. The conjunction of postsynaptic membrane paucity and its degeneration was a specific structural feature observed in the third syndrome with no established genetic defects. PMID:20925004

Fidzia?ska, Anna; Glinka, Zofia

2010-01-01

162

Fahr's Syndrome- An Interesting Case Presentation  

PubMed Central

Fahr’s syndrome refers to a rare syndrome which is characterized by symmetrical and bilateral intracranial calcification. We are presenting a 63 year old male, who complained of progressive dysarthria of 6 months, which was associated with slowness of movements. His neurological examination revealed Parkinsonian features. His CT scan revealed a symmetrical large area of calcification over the basal ganglia, the thalamus and the cerebellum. The secondary causes of the bilateral calcification were ruled out to make the clinical diagnosis of Idiopathic Bilateral Striopallidodentate Calcinosis, which is otherwise called as the Fahr’s syndrome. Deposits of calcium and minerals cannot be linked to a single chromosomal locus and further genetic studies are in progress for identifying the chromosomal locus of the disease. PMID:23634413

Asokan, Athulya Geetha; D'souza, Sydney; Jeganathan, Jayakumar; Pai, Shivananda

2013-01-01

163

Crowned dens syndrome. A case report.  

PubMed

Crystal deposition in the cervical spine around the odontoid process may lead to acute neck pain. This rare condition is called crowned dens syndrome and should be considered in the differential diagnosis of a possible etiology for fever, headache and cervical pain of unknown origin. The syndrome is often overlooked, thus leading to misdiagnosis, invasive and useless investigations (lumbar puncture, biopsy), inappropriate treatment (steroids, antibiotics, antiviral drugs) and prolonged hospitalization. This can be prevented by imaging, based on a cervical CT scan that allows an accurate diagnosis. The disease has a good prognosis and symptoms usually subside within a few weeks. We describe a patient with crowned dens syndrome which manifested with clinical (acute occipital headache) and radiographic (calcium deposits in the alar ligament) features. Our patient recovered in four days with symptomatic therapy. PMID:25196626

Koyfman, Anna; Yaffe, Daniel

2014-09-01

164

A Case of hereditary spherocytosis coexisting with Gilbert's syndrome.  

PubMed

We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones. PMID:23575236

Lee, Min Jae; Chang, Yoon Hwan; Kang, Seung Hwa; Mun, Se Kwon; Kim, Heyjin; Han, Chul Ju; Kim, Jin; Kang, Hye Jin

2013-03-25

165

Glucagonoma syndrome: a case report with focus on skin disorders  

PubMed Central

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

Fang, Sheng; Li, Shuang; Cai, Tao

2014-01-01

166

A newborn with Cornelia de Lange syndrome: a case report.  

PubMed

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early in life, the distinctive craniofacial features in mild de Lange syndrome may be indistinguishable from the severe (classical) phenotype. We present here a case of newborn with CdLs. PMID:19019222

Uzun, Hakan; Senses, Dursun Ali; Uluba, Munevver; Kocabay, Kenan

2008-01-01

167

A rare case of acute compartment syndrome after saphenectomy  

PubMed Central

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

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

2013-01-01

168

Hutchinson - Gilford progeria syndrome: A rare case report  

PubMed Central

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.

Kashyap, Subhash; Shanker, Vinay; Sharma, Neeraj

2014-01-01

169

Thoracic Endometriosis Syndrome: Case Report and Review of the Literature  

PubMed Central

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

Azizad-Pinto, Parisa; Clarke, David

2014-01-01

170

Hutchinson - Gilford progeria syndrome: A rare case report.  

PubMed

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

Kashyap, Subhash; Shanker, Vinay; Sharma, Neeraj

2014-10-01

171

[A case of Noonan syndrome with neurogenic bladder].  

PubMed

We report a case of Noonan syndrome with neurogenic bladder. The patient was a 33-year-old man with a chief complaint of difficulty in urination, urinary frequency, and incontinence of urine. He had also various malformations, as deformities of the face, skull and hard palate, webbed neck, nail abnormality, edema of the lower extremities, contraction of visual field, deafness, malrotation of the intestine and so on. The case was diagnosed as Noonan syndrome because his karyotype of chromosome was 46, XY. Malformations of the urogenital organs were mild malrotation of bilateral kidneys, a right renal cyst, left cryptorchidism and pseudo phimosis. The uroflowmetrogram of the case showed a saw-like and flat pattern, with urination starting by tapping lower abdomen by himself. The cystometry and electromyogram of the external sphincter revealed neurogenic bladder with uninhibited contraction and detrusor-external sphincter dyssynergia. This is the first case of Noonan syndrome with neurogenic bladder. PMID:1479762

Ohashi, H; Okuno, T; Mizuo, T

1992-11-01

172

Cushing's syndrome in a case of thymic carcinoma  

PubMed Central

A 29-year-old gentleman presented with episodic features suggestive of Cushing's syndrome. He was evaluated and diagnosed with ectopic Adrenocorticotropic hormone (ACTH)–dependent Cushing's syndrome due to a thymic tumor. The thymic lesion was excised and histopathology confirmed thymic carcinoma with neuroendocrine differentiation, with local, perineural, and vascular invasion. The postoperative problems and further treatment options have been discussed in this case report. PMID:22029011

Asha, H. S.; Sudeep, K.; Alexander, Manika; Korula, Anila; Gnanamuthu, Birla Roy; Thomas, Nihal

2011-01-01

173

Cushing's syndrome in a case of thymic carcinoma.  

PubMed

A 29-year-old gentleman presented with episodic features suggestive of Cushing's syndrome. He was evaluated and diagnosed with ectopic Adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome due to a thymic tumor. The thymic lesion was excised and histopathology confirmed thymic carcinoma with neuroendocrine differentiation, with local, perineural, and vascular invasion. The postoperative problems and further treatment options have been discussed in this case report. PMID:22029011

Asha, H S; Sudeep, K; Alexander, Manika; Korula, Anila; Gnanamuthu, Birla Roy; Thomas, Nihal

2011-10-01

174

Meckel-Gruber syndrome: Report of two cases.  

PubMed

Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy. PMID:22346195

Panduranga, C; Kangle, Ranjit; Badami, Rajshree; Patil, Prakash V

2012-01-01

175

Hypercalcemia in Pregnancy: A Case of Milk-Alkali Syndrome  

Microsoft Academic Search

Milk-alkali syndrome is a rare cause of hypercalcemia characterized by the triad of hypercalcemia, renal insufficiency, and\\u000a metabolic alkalosis that results from the overconsumption of calcium containing products. In the setting of pregnancy where\\u000a there is a physiologic increase in calcium absorption, milk-alkali syndrome can be potentially life threatening. We report\\u000a a case of a 26-year-old woman in her second

Leanne Kolnick; Bryan D. Harris; David P. Choma; Neesha N. Choma

176

Ehlers Danlos Syndrome - A Case Report  

PubMed Central

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

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

2014-01-01

177

Guillian-Barré Syndrome – a case study  

Microsoft Academic Search

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

C. E. Toft

2002-01-01

178

Ehlers danlos syndrome - a case report.  

PubMed

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

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

2014-03-01

179

[Klinefelter's syndrome: diagnosis and treatment. Case report].  

PubMed

Klinefelter's syndrome affects 1 in 500 men across all ethnic groups but the diagnosis is often delayed because of substantial variations in clinical presentation. A 26 year-old male came to observation for chronic fatigue. His laboratory data and radiological examination were negative. Examination showed eunuchoidal body habitus with sparse facial hair, small and firm testes and no gynecomastia. The patient had heterosexual orientation with regular sexual intercourses but diminished libido. Serum gonadotropin concentrations were raised while serum testosterone concentration was low-normal level. Serum PRL concentration and thyroid function were normal. Seminal analysis revealed azoospermia and peripheral lymphocyte karyotyping showed a 47,XXY karyotype, confirming diagnostic suspicion. Patient was given testosterone enanthate 200 mg intramuscularly every 2 weeks. He noted improvements in fatigue and libido and increase of muscle mass. Since the true prevalence of Klinefelter's syndrome is very high, the diagnosis of this disease should be considered in every men with complaints related to hypogonadism (fatigue, weakness, gynecomastia, infertility, erectile dysfunction, small testis and osteoporosis). Testosterone replacement therapy should be started early to minimize the physical and psychological effects of androgen deficiency. There have been recent advances in the options for the treatment of infertility in patients with Klinefelter's syndrome: however findings that this syndrome may be transmitted by the new assisted reproductive techniques is cause for concern. PMID:11675582

Martini, R

2001-10-01

180

Fetal autopsy of Meckel Gruber syndrome -a case report.  

PubMed

Meckel Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post-axial polydactyly. One such rare case at 28 weeks of gestation was terminated and its case report with the phenotypic features, fetal autopsy and histo-pathological examination are discussed. PMID:23445452

Bolineni, Chandrika; Nagamuthu, Ezhil Arasi; Neelala, Neelaveni

2013-10-01

181

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

PubMed Central

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

Jordan, Harold W.; Howe, Gray

1980-01-01

182

[Case report - Tako-Tsubo Syndrom].  

PubMed

A 69-year-old woman reported that underwent endonasal frontal sinus surgery under general anesthesia. In her medical history the patient reports a multiple occurrence of angina pectoris attacks, especially in stressful situations. Coronary heart disease has so far been excluded. At preoperative presentation of this patient was in good general and nutritional state. Intraoperative hypotension had to be treated with norepinephrine. In the recovery room, the patient developed angina pectoris symptoms and the ECG showed T negativity. The patient was admitted on an ICU. Coronary angiography showed left ventricular apical ballooning with a transient akinesia typical of the left ventricle, as is seen in a Tako-Tsubo syndrome. The symptoms are similar to acute coronary artery disease, but without stenosis of coronary arteries. Physical or emotional stress is known to trigger Tako-Tsubo Syndrome, but the exact etiology or pathophysiology remains somewhat unclear. PMID:22286936

Dersch, Wolfgang; Rolfes, Caroline; Wulf, Hinnerk

2012-01-01

183

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

PubMed Central

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

Saransh, Jain; Vikas, Dwarkanath Mysore

2014-01-01

184

Waardenburg Syndrome type 1: A case report.  

PubMed

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

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

2011-01-01

185

Cornelia de Lange syndrome: A case report  

Microsoft Academic Search

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

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

186

Ganser syndrome: review and case report.  

PubMed

The nosological conception of Ganser syndrome (GS) has evolved as the hysterical etiopathogenesis has been examined against psychosis, malingering, factitious disorders and/or organic lesions. Few articles and little scientific research and theory are available supporting the complicated diagnosis of GS. The similarities and differences between GS and factitious disorders and malingering are examined in depth here. More publications are needed on GS to clarify its nature and investigate its treatment and uncertain prognosis. PMID:22723135

Jiménez Gómez, Belén; Quintero, Javier

2012-01-01

187

The Steven Johnson syndrome. A case study.  

PubMed

Steven Johnson's Syndrome is a serious systemic disorder in which there are vesicobullous lesions involving the skin and mucous membranes. It can result as an immune response to an antigen or as a drug reaction. Most often it is considered as an allergic reaction. It is a self-limiting condition which responds to immediate management or may result in fluid loss, sepsis and death. PMID:10818901

Baby, S; Doris, S

1999-07-01

188

Two extraordinarily severe cases of Treacher Collins syndrome.  

PubMed

Here, we report two extraordinarily severe cases of Teacher Collins syndrome. Initially, amniotic bands and plical fold disruption were considered, but downslanting eyes made us consider severe Treacher Collins syndrome. A TCOF1 mutation in exon 24 was identified in Patient 1 (c.4355_4356ins14, resulting in p.1456Thrfs*18). Patient 2, who expired on day 4, is so similar to Patient 1 that severe Treacher Collins syndrome may be inferred in this instance. Neither the TCOF1 mutation nor the well-known variability in the expression in affected families with Treacher Collins syndrome (?40% of reported cases) can explain the severity of these cases; otherwise, we would be aware of such cases within families from time to time. We are unaware of any recent sporadic cases (?60% of reported cases) exactly like ours either with a single exception in the case reported by Writzl et al. [2008] with a TCOF1 mutation. The case described by Otto in 1841 is spectacular. We propose several hypotheses to be considered in explaining this developmental amplification, including some promoter effect on the gene, some position effect on the gene, a polymorphism elsewhere in the gene, a point mutation elsewhere in the gene, a polymorphism in another gene, or a point mutation in another gene, such as POLR1C (which maps to 6p21.1) or POLR1D (which maps to13q12.2). We also review the etiology and pathogenesis of Treacher Collins syndrome, and discuss several other severe cases from the past. PMID:23401420

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

2013-03-01

189

Kabuki syndrome: a new case associated with Becker nevus.  

PubMed

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

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

2011-01-01

190

Mesothelioma of the testis and nephrotic syndrome: a case report  

PubMed Central

Introduction Paraneoplastic glomerulopathies are rare manifestations of neoplastic disease to be distinguished from iatrogenic renal damage. Solid tumors are preferentially associated with membranous nephropathy, whereas Hodgkin's lymphomas are associated with minimal change disease. Case presentation We report a 63-year-old Caucasian male diagnosed with a mesothelioma of the tunica vaginalis testis who, secondary to this, also presented with a nephrotic syndrome due to minimal change disease. In the present case, the paraneoplastic etiology of the nephrotic syndrome can be discussed on four unusual elements: minimal change lesions were found; the glomerulopathy was very sensitive to corticosteroids; the nephrotic syndrome occurred 11 months after the diagnosis of the primary malignancy, but concomitantly with the recurrence; and the nephrotic syndrome did not decrease with tumor control and did not recur when the mesothelioma escaped treatment. No other etiologies could nevertheless explain this phenomenon. Conclusion Paraneoplastic nephrotic syndrome is often associated with membranous nephropathy in patients with solid tumors, especially in patients with lung and gastrointestinal tract neoplasia. The management of these patients is associated with a symptomatic treatment such as sodium and water restriction, diuretics and ACE inhibitors and a prophylaxis of specific complications of nephrotic syndrome including thromboembolism, infections and lipid abnormalities. Treatment of neoplasia must be undertaken rapidly, treatments must be regularly analyzed and drugs binding to albumin may be used with precaution. PMID:19830148

2009-01-01

191

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

PubMed Central

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

Thakur, Arpita Rai; Naikmasur, Venkatesh G

2014-01-01

192

Piriformis syndrome: a case with non-discogenic sciatalgia.  

PubMed

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

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

2014-01-01

193

Splenic hamartomas in Alagille syndrome: case report and literature review.  

PubMed

Alagille syndrome is a rare autosomal dominant disorder with characteristic findings of paucity of intrahepatic bile ducts, congenital heart disease, and vertebral, ocular, and renal abnormalities. We present a unique autopsy case of an 18-year-old female with Alagille syndrome and splenic hamartomas. Autopsy findings included growth restriction, Tetralogy of Fallot, paucity of intrahepatic bile ducts, end-stage renal disease with mesangiolipidosis, and splenomegaly with two well-circumscribed, splenic tumors. Histologic findings of the splenic tumors revealed disorganized vascular channels lined by cells without cytologic atypia. Immunohistochemical analysis demonstrated CD8(+)CD31(+) endothelial cells, consistent with splenic hamartomas. In summary, Alagille syndrome is a rare genetic disorder characterized by JAG1 mutations and disrupted Notch signaling. Review of the literature highlights the importance of Notch signaling in vascular development and disorders. However, to our knowledge this is the first description of splenic hamartomas in Alagille syndrome. PMID:24865822

James, Aaron W; Nguyen, Alan; Said, Jonathan; Genshaft, Scott; Lassman, Charles R; Teitell, Michael

2014-08-01

194

Unusual clinical manifestations in a case of Alagille syndrome.  

PubMed

Alagille syndrome, also known as arteriohepatic dysplasia, is a multisystem autosomal dominant disorder characterized by chronic cholestasis due to a paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis with associated vertebral, ocular, and renal anomalies, and characteristic facies. We report a case of Alagille syndrome in a 3-year-old boy with associated pruritus, follicular keratoses, palmar pits, and keratoderma-like changes over the dorsum of the hands. There have been single isolated case reports of phrynoderma and keratoderma. Palmar pits have not been reported in the literature. PMID:25333075

Gadkari, Reshma; Doshi, Bhavana; Nayak, Chitra; Ghildiyal, Radha; Madke, Bhushan; Ghia, Deepti

2014-01-01

195

A case report of focal dermal hypoplasia-Goltz syndrome  

PubMed Central

Goltz syndrome is a rare multisystem disorder with cutaneous, ocular, dental and skeletal abnormalities. Other mesoectodermal abnormalities are also present. Its hallmark is thinning of the dermis resulting subcutaneous fat herniation. The present case is a 5 year old girl having linear skin atrophy with fat herniation, skeletal abnormalities in the form of polysyndactyly, facial asymmetry, squint with coloboma iris, deformed pinna, abnormal dentition, umbilical hernia along with osteopathia striata of long bones which is consistent with Goltz syndrome. We are presenting this case due to its rarity. PMID:23984248

Bharani, Sheela; Thakkar, Sejal

2013-01-01

196

A case of McKusick-Kaufman Syndrome.  

PubMed

We are reporting a rare case of McKusick- Kaufman Syndrome in a ten-month old female infant from Addis Ababa with difficulty of urination often days duration. Clinical exam revealed supra-pubic mass with tenderness and had left hand postaxial polydactily. Ultrasound and CT scans showed the mass to be hydrometrocolpos posterior to the bladder. Intravenous urography revealed a lower abdomen-pelvic mass displacing and compressing the ureters with bilateral hydronephrosis. Further pelvic exam under anaesthesia revealed hydrometrocolpos with vaginal agenesis. This, to the best knowledge of the authors, is the first ever reported case of the syndrome in Ethiopia. PMID:21991762

Zewdneh, Daniel; Shewarega, Zelalem

2011-07-01

197

Papillon-Lefèvre syndrome: a report of two cases.  

PubMed

Papillon-Lefèvre syndrome is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis, and severe periodontal destruction involving both the primary and permanent dentitions. It is transmitted as an autosomal recessive condition and consanguinity of parents is evident in about one-third of cases. This paper describes two preschool children who presented at the Paediatric Dentistry Department, Sheffield, UK, with progressively loosening teeth and discomfort during eating. The medical history revealed scaling on the hands and feet, which had been medically diagnosed as eczema. Papillon-Lefèvre syndrome was diagnosed in both cases. PMID:15242386

Patel, S; Davidson, L E

2004-07-01

198

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

PubMed Central

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

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

2013-01-01

199

Sj?gren's syndrome associated with antiphospholipid syndrome and fetal myocardial echogenicity: case report  

PubMed Central

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

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

2013-01-01

200

The retinal ciliopathies.  

PubMed

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

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

2007-09-01

201

An unrecognised case of withdrawal neuroleptic malignant syndrome: a case report.  

PubMed

Withdrawal neuroleptic malignant syndrome is a not widely recognised variant of the rare adverse consequence of neuroleptic medication, neuroleptic malignant syndrome (NMS). We present a case to bring the disorder to the attention of clinicians responsible for treating serious mental illness and medical and judicial officers who may be involved in investigating serious untoward incidents occurring within a mental health care setting. PMID:20025106

Ball, Hadrian; de Waal, Hugo; Craig, Ken

2009-10-01

202

Shwachman's syndrome. A review of 21 cases.  

PubMed Central

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

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

1980-01-01

203

Bi-opercular Syndrome: A Case Report and Minireview.  

PubMed

Opercular syndrome is a well known but neglected entity and is quite common, but it is difficult for non-neurologists to diagnose this entity because of lack of awareness. Inability to speak and swallow with dissociation of automatic voluntary movements in the affected muscles are the essential features of this syndrome. The aetiology in most of the reported cases is vascular (thrombosis or embolism) involving branches of middle cerebral artery supplying the opercular area. We are reporting a case of "bilateral opercular syndrome" caused by stroke in a young patient. He had sudden onset of bilateral facial and tongue palsy, inability to speak and swallow, but with preserved automatic functions. He was mute but verbal comprehension was normal. CT head revealed bilateral perisylvian infarcts. PMID:25121016

Praveen-Kumar, S; Pramod, K

2014-06-01

204

Joubert Syndrome: Imaging Features and Illustration of a Case  

PubMed Central

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

Arora, Richa

2014-01-01

205

Diagnosis and treatment of SAPHO syndrome: A case report  

PubMed Central

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

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

2014-01-01

206

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

PubMed Central

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

Kwan, Clara; Mastrine, Lou; Moskovits, Manfred

2013-01-01

207

A case of atypical congenital nephrotic syndrome.  

PubMed

We present a female newborn with the nephrotic syndrome of intrauterine onset and a unique set of extrarenal abnormalities, as well as atypical renal lesions. The extrarenal anomalies comprised a soft tissue hemangioma in the frontotemporal region, unilateral microphthalmia (with persistent hyperplastic corpus vitreous and detachment of the retina), and glaucoma in the other eye. Immature glomeruli and/or glomeruli with large cellular crescents were found in renal biopsy specimens in the 3rd week of life. On autopsy, 7 weeks later, diffuse mesangial sclerosis (DMS) was the predominant type of glomerular lesion. In addition, dilations of tubules, forming microcysts, as well as clusters of infiltrating cells in the interstitium, were found both in renal biopsy and autopsy specimens. Although the symptoms observed in our patient did not match any reported in association with the known forms of the congenital nephrotic syndrome (CNS), the most probable diagnosis seemed to be CNS due to DMS of intrauterine onset, with superimposed drug-related tubulointerstitial nephritis. PMID:14714170

Swietli?ski, Janusz; Maruniak-Chudek, Iwona; Niemir, Zofia I; Wo?niak, Aldona; Wili?ska, Maria; Zacharzewska, Joanna

2004-03-01

208

[Hemophagocytic syndrome. Report of four cases].  

PubMed

Hemophagocytic syndrome (HS) is a severe hyper inflammatory condition whose cardinal symptoms are prolonged fever, cytopenia, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages. The clinical course resembles sepsis, sharing similar physiopathological features. We report four patients with the syndrome. A 61-year-old female presenting with fever and pleuritic pain. During the course of the disease, a pancytopenia was detected and a bone marrow aspiration was suggestive of HS. The patient was treated with cyclosporine and steroids with a good response. A 61-year-old male with fever and pancytopenia and a bone marrow aspirate suggestive of HS. The patient did not respond to treatment and died. A 23-year-old male with fever, pancytopenia and positive Hanta virus antibodies. A bone marrow aspirate was suggestive of HS. The patient recovered without any treatment. A 72-year-old male admitted with the diagnosis of pneumonia, that developed a progressive pancytopenia and bone marrow aspirate was suggestive of HS. A bronchoalveolar lavage showed the presence of Acinetobacter baumanii. Despite treatment with methylprednisolone and gammaglobulin, the patient died. Awareness of the clinical symptoms and of the diagnostic criteria of HS is important to start life-saving therapy in time. PMID:21773661

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

2011-02-01

209

A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.  

PubMed

Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect. PMID:22639003

von Elten, Kelley; Sawyer, Taylor; Lentz-Kapua, Sarah; Kanis, Adam; Studer, Matthew

2013-06-01

210

Consonants in Cri du Chat Syndrome: A Case Study  

ERIC Educational Resources Information Center

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

Kristoffersen, Kristian Emil

2008-01-01

211

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

PubMed

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

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

2012-11-01

212

Chemoradiation-induced superior vena cava syndrome: A case report  

PubMed Central

A case of a 54-year-old man who developed superior vena cava syndrome secondary to vascular fibrosis, 30 months after radical chemoradiation for stage III non-small cell lung cancer, is presented. The literature regarding the etiology, diagnosis and treatment of this rare entity is discussed. PMID:19107246

Castonguay, Mathieu; Rodrigues, George; Vincent, Mark; Malthaner, Richard A; Guo, Lin-Ruo

2008-01-01

213

Liebenberg syndrome: case report and insight into molecular basis.  

PubMed

We report a case of Liebenberg syndrome in a 6-year-old girl, including the clinical, radiological, angiographic, and operative findings. We note that the forearm and hand malformations have similarities to leg and foot anatomy. Our observations may help provide insight into the etiology of this unusual condition. PMID:23395106

Abdel-Ghani, Hisham; Mansour, Ayman; Mahmoud, Mostafa; Ez-Elarab, Magdy

2013-03-01

214

Right subclavian double steal syndrome: a case report  

Microsoft Academic Search

INTRODUCTION: Double-steal syndrome represents a causative factor for blood flow compromise of the cerebral vascular bed with transient neurologic symptoms. We present the case of a patient with innominate artery atherosclerotic occlusion, manifested as blood flow reversal in the vertebral and common carotid arteries. Symptomatic atherosclerotic occlusive disease of the innominate artery is relatively rare and represents less than 2%

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

2008-01-01

215

Lemierre's syndrome after evacuation of the uterus: a case report  

PubMed Central

Key Clinical Message Even minor surgical interventions can have serious complications. Lemierre's syndrome is rare and to our best knowledge never before described after gynecological surgery; however, it should be considered in case of rapidly developing respiratory problems after even simple surgical procedures.

Hedengran, Katrine Kaare; Hertz, Jens

2014-01-01

216

[Popliteal artery entrapment syndrome. Discussion of a case].  

PubMed

The paper reports a case of popliteal artery entrapment syndrome (3rd type) associated with poststenotic aneurysm with a single painful ischemic attack. Diagnosis was made following an accurate anamnesis and clinical examination using invasive and non-invasive instruments. Surgical therapy consisted of resection of the gastrocnemius muscle followed by a graft to the self inverted saphena vein. PMID:1758643

Delemont, M; Ruscalla, L; Ligresti, C; Rossi, R; Farinella, M

1991-09-15

217

Magnetic resonance imaging findings in piriformis syndrome: A case report  

Microsoft Academic Search

Piriformis syndrome (PS) is an unusual cause of sciatica that, because of the lack of strict diagnostic criteria, remains a controversial clinical entity. The diagnosis of PS is still primarily clinical because no diagnostic tests have proven to be definitive. We report the case of a 30-year-old woman, affected by a severe scoliosis, who developed a persistent buttock pain resembling

Paolo Rossi; Patrizio Cardinali; Mariano Serrao; Leoluca Parisi; Federico Bianco; Sergio De Bac

2001-01-01

218

Othello syndrome secondary to ropinirole: a case study.  

PubMed

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

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

2012-01-01

219

Othello Syndrome Secondary to Ropinirole: A Case Study  

PubMed Central

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

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

2012-01-01

220

Case Report: A Behavioral Approach to Tourette's Syndrome  

ERIC Educational Resources Information Center

Tourette's syndrome, which includes the compulsive vocalization of obscene words, has been attributed to both organic and psychological factors. Although no conclusions about the etiology of the behavior could be drawn, the operant nature of the symptoms was demonstrated in the present case study in the manipulation of responses by varying…

Rosen, Marvin; Wesner, Chester

1973-01-01

221

Cornelia de-lange syndrome: a case report.  

PubMed

Cornelia de-Lange syndrome is a congenital anomaly syndrome characterized by distinctive facial dysmorphism, primordial short stature, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small widely spaced teeth and microcephaly. IQ ranges from between 30 and 102 with an average of 53. Many individuals demonstrate autistic and self-destructive tendencies. It is an autosomal dominant disorder caused by specific gene mutations and occurrence is one in 30,000 to 50,000 children. This article describes a report of a classical case of the syndrome of a 10-year-old boy and emphasizes the oral and systemic findings. The role of the pediatric dentist, with his expertize in prevention, skills of behavior management and timely referral to medical speciality, is of paramount importance in the management of children with this syndrome. How to cite this article: Mehta DN, Bhatia R. Cornelia De-Lange Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(2):115-118. PMID:25206204

Mehta, Diana Noshir; Bhatia, Rupinder

2013-05-01

222

Cornelia De-Lange Syndrome: A Case Report  

PubMed Central

ABSTRACT Cornelia de-Lange syndrome is a congenital anomaly syndrome characterized by distinctive facial dysmorphism, primordial short stature, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small widely spaced teeth and microcephaly. IQ ranges from between 30 and 102 with an average of 53. Many individuals demonstrate autistic and self-destructive tendencies. It is an autosomal dominant disorder caused by specific gene mutations and occurrence is one in 30,000 to 50,000 children. This article describes a report of a classical case of the syndrome of a 10-year-old boy and emphasizes the oral and systemic findings. The role of the pediatric dentist, with his expertize in prevention, skills of behavior management and timely referral to medical speciality, is of paramount importance in the management of children with this syndrome. How to cite this article: Mehta DN, Bhatia R. Cornelia De-Lange Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(2):115-118. PMID:25206204

Bhatia, Rupinder

2013-01-01

223

Pituitary stalk interruption syndrome: Case report of three cases with review of literature  

PubMed Central

Pickardt syndrome (Pickardt-Fahlbusch syndrome) is a rare congenital syndrome characterized by tertiary hypothyroidism caused by the interruption of the portal veins between hypothalamus and adenohypophysis. Typical features of this syndrome are tertiary hypothyroidism with low thyroid stimulating hormone, hyperprolactinemia and other pituitary hormone deficiencies. Pituitary stalk interruption syndrome is characterized by a triad of thin or interrupted pituitary stalk, aplasia or hypoplasia of the anterior pituitary and absent or ectopic posterior pituitary (EPP) seen on magnetic resonance imaging (MRI). It is a congenital anomaly of pituitary whose exact prevalence is unknown. In some cases, it is restricted to EPP or pituitary stalk interruption. We are presenting the case history along with MRI finding of three children's who presented with short stature and delayed puberty.

Gutch, Manish; Kumar, Sukriti; Razi, Syed Mohd; Saran, Sanjay; Gupta, Keshav Kumar

2014-01-01

224

Humeroradial synostosis and the multiple synostosis syndrome: case report.  

PubMed

Humeroradial synostosis may occur sporadically or as an extremely rare inheritable disorder. The current classification divides cases into class I (fixed in extension with ulnar ray hypoplasia) or class II (fixed in flexion without hypoplasia). Familial cases of class II synostosis segregate into autosomal recessive and autosomal dominant groups. Autosomal recessive pedigrees are heterogeneous. However, when inherited as an autosomal dominant some cases of humeroradial synostosis demonstrate striking similarities limited to the musculoskeletal system: class II humeroradial synostosis, proximal symphalangism, short first metacarpal and metatarsal bones, carpal and tarsal coalitions and a prominent nasal bridge. We believe that when class II humeroradial synostosis is associated with these features, the primary diagnosis is the multiple synostosis syndrome. Furthermore, a prominent nasal bridge is present in the neonate and may aid diagnosis at this stage. We illustrate these findings with the case of a mother and only child, both demonstrating class II humeroradial synostosis and features characteristic of the multiple synostosis syndrome. PMID:12703033

McIntyre, James D; Brooks, Adam; Benson, Michael K

2003-05-01

225

[Vascular involvement in Cogan's syndrome. A case report].  

PubMed

Vascular manifestations of Cogan's syndrome are rarely reported. We report the case of a young woman followed for typical Cogan's disease. Serious vascular involvement was found only during work-up for arterial hypertension. This case highlights potentially asymptomatic nature of extensive vasculitis affecting large and medium-sized vessels in Cogan's disease. Careful screening is required to prevent life-threatening complications. PMID:22197586

Luong Nguyen, L-B; Warzocha, U; Brillet, P-Y; Abad, S; Larroche, C; Amar, L; Frachet, B; Dhote, R

2012-02-01

226

Cannabinoid hyperemesis syndrome: a case report and review of pathophysiology.  

PubMed

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

Iacopetti, Corina L; Packer, Clifford D

2014-09-01

227

A case of isolated cutaneous Rosai-Dorfman-Syndrome.  

PubMed

Rosai-Dorfman Syndrome (RDD) is a rare, benign, self-limiting disorder which is characterized by the non-malignant proliferation of distinctive histiocytic cell within lymphatic system. RDD has been described as a dynamic entity in the spectrum of histiocytosis with non-Langerhans cell histiocytosis at one end and Langerhans cell histiocytosis at the other. The exact etiology of this disease is uncertain despite widespread search for infectious or immunological reasons. We present a case of purely cutaneous Rosai-Dorfman Syndrome presenting as abdominal wall swelling. Keywords: Rosai-Dorfman Disease, Lymphoma. PMID:23996873

Rizwan, M M; Chhabra, G; Mishra, A; Kapadia, S; Rai, R; Gill, H

2013-07-01

228

Aarskog-Scott Syndrome: A Review and Case Report  

PubMed Central

Abstract This paper reports the treatment and 12-year follow-up of a patient 7 years old who had been diagnosed with Aarskog-Scott syndrome. The patient had a history of premature multiple tooth loss, vertical dimension loss and severe dentoalveolar discrepancy. Orthopedic and orthodontic rehabilitation treatments were performed to improve the patient’s esthetic, functional and psychological condition. How to cite this article: Closs LQ, Tovo M, Dias C, Corradi DP, Vargas IA. Aarskog-Scott Syndrome: A Review and Case Report. Int J Clin Pediatr Dent 2012;5(3):209-212.

Tovo, Maximiano; Dias, Caroline; Corradi, Daniele P; Vargas, Ivana A

2012-01-01

229

Early orthodontic management of Crouzon Syndrome: a case report.  

PubMed

Crouzon Syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Once the sutures become closed, growth potential to those sutures is restricted. However, multiple sutural synostoses frequently extend to premature fusion of skull base causing midfacial hypoplasia, shallow orbit, maxillary hypoplasia and occasional upper airway obstruction.The case of a 7-year-old South African black boy with Crouzon Syndrome is presented. He presented with characteristic triad of cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, cephalometric features and initial orthodontic management of this patient are discussed as part of multidisciplinary management. PMID:23139476

Hlongwa, P

2009-03-01

230

Primary hypogonadism in a case with XLAG syndrome.  

PubMed

Patients with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, microcephaly, and male genotype with ambiguous genitalia. The basis of the ambiguous genitalia in XLAG syndrome is not well-known. We report a case of the fourth child of healthy consanguineous parents who was presented to the hospital because of non-febrile seizures at 2 months of life. On physical examination, microcephaly, some dysmorphic face features, and ambiguous genitalia were determined. The cranial magnetic resonance imaging of the patient showed lissencephaly, agenesis of the corpus callosum, and enlarged ventricles. His karyotype was 46, XY. He had undetectable testosterone levels and elevated gonadotropins. Neither testicular tissue nor any testosterone response to human chorionic gonadotropin stimulation test was observed. These findings suggest that the hypogonadism in this patient with XLAG syndrome is primary hypogonadism due to gonadal agenesis or dysgenesis. PMID:23329764

Özdemir, Özmert M A; Ca?lar, Murat; Koçyi?it, Ali; Dündar, Nihal Olgaç; Sangün, Özlem; Dündar, Bumin

2012-01-01

231

Embryo with XYY syndrome presenting with clubfoot: a case report.  

PubMed

Talipes equinovarus (clubfoot) is a skeletal anomaly of the embryo's legs, with a frequency of 1-3:1000 living born babies. It may occur as an independent anomaly, or as part of a syndrome with concomitant chromosomal abnormalities.XYY syndrome is a quite rare sex chromosomal abnormality with 47, XYY karyotype. Prenatal diagnosis is usually accidental because the syndrome is not associated with increased prevalence of sonographically detectable defects. The possibility of co-existence of skeletal anomalies in embryos with 47, XYY karyotype is scant, with only a few cases reported in the literature.An amniocentesis was performed in an embryo at the 21(st) week of gestation because clubfoot was detected in the 2(nd) trimester scan, and the embryo was found to have abnormal karyotype of 47, XYY. Current opinions and management dilemmas are discussed. PMID:19918427

Athanatos, Dimitrios; Tsakalidis, Christos; Tampakoudis, George P; Papastergiou, Maria N; Tzevelekis, Fillipos; Pados, George; Assimakopoulos, Efstratios A

2009-01-01

232

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

PubMed Central

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

2014-01-01

233

[Case of prolonged recovery from serotonin syndrome caused by paroxetine].  

PubMed

We report a case of serotonin syndrome in a patient being treated with paroxetine for depression. Despite prompt discontinuation of medication, his serotonin syndrome continued for 10 days before full consciousness was restored. The patient was a 48-year-old male with chief complaints of hypobulia and suicidal thoughts. He consulted as a psychiatric outpatient, and oral paroxetine 20 mg/day, etizolam 1.0 mg/day, and brotizolam 0.25 mg/day were immediately started. Upsurge of feeling and disinhibition state were noted the following day, then on treatment day 6 his condition deteriorated to substupor state and he was admitted for further treatment. On admission, change of mental condition (consciousness disturbance), perspiration, hyperreflexia, myoclonus and tremor were seen, and serotonin syndrome caused by paroxetine was suspected. Paroxetine was thus discontinued, and under intravenous drip his condition gradually improved. However, it was not until the 10th hospital day that he became fully alert. In examinations, no infectious, metabolic or organic diseases were detected. The patient's condition often improves with in 24 hours of discontinuation of the causative medication in serotonin syndrome. Symptoms continued for 10 days in this patient, however, perhaps because paroxetine was administered for 6 days before discontinuation. In addition, interaction with other medications may have occurred. Therefore, when serotonin syndrome is suspected, prompt discontinuation of the suspected causative medication, followed by close monitoring of the pharmacokinetics is warranted. PMID:15027311

Ochiai, Yusuke; Katsu, Hisatoshi; Okino, Shinji; Wakutsu, Noriyuki; Nakayama, Kazuhiko

2003-01-01

234

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

PubMed

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

Dahlgren, James; Wardenburg, Marla; Peckham, Trevor

2010-01-01

235

Gorlin and Goltz Syndrome: A Case Report with Surgical Review  

PubMed Central

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

Surendraji Jain, Eesha; P Badole, Gautam

2013-01-01

236

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

PubMed

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

Mendis, Dulani; Haselden, Karen; Costello, Declan

2013-07-01

237

Severe fever with thrombocytopenia syndrome in children: a case report  

PubMed Central

Background Severe fever with thrombocytopenia syndrome (SFTS) is an emerging infectious disease caused by a novel bunyavirus (SFTSV) in China. Humans of all ages living in endemic areas have high risk of acquiring SFTS. Most clinical data so far have been from adults and no clinical study was available from children yet. The present study identified four SFTSV infected children through hospital based surveillance. A prospective observational study was performed to obtain their clinical and laboratory characteristics. Case presentation The patients’ age ranged from 4–15 years old and two were male. On hospitalization, fever, malaise and gastrointestinal syndromes were the most commonly presenting symptoms. Hemorrhagic symptoms or neurological manifestation was not recorded in any of the four pediatric patients. Hematological abnormalities at admission into hospital included leucopenia (4 cases), thrombocytopenia (1 case) and bicytopenia (1 case). The abnormal parameters included elevated aminotransferase (1 case), alanine transaminase (2 case), and lactate dehydrogenase (3 case). Laboratory parameters indicative of renal damage was not observed during the hospitalization. All the patients recovered well without sequelae being observed. Conclusion Compared with adults, pediatric patients with SFTSV infection seem to have less vague subjective complaints and less aggressive clinical course. Thrombocytopenia is suggested to be used less rigorously in recognizing SFTSV infection in pediatric patients, especially at early phase of disease. PMID:24993119

2014-01-01

238

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

PubMed

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

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

2013-10-01

239

Antidepressant-induced Burning Mouth Syndrome: A Unique Case  

PubMed Central

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

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

2014-01-01

240

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

PubMed Central

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

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

2014-01-01

241

The congenital warfarin syndrome: a case report.  

PubMed Central

A case is reported of a baby born with congenital abnormalities due to maternal ingestion of warfarin during pregnancy. Warfarin is known to be teratogenic, producing characteristic abnormalities, namely a hypoplastic nose, stippled epiphyses, and skeletal abnormalities. A variety of ocular abnormalities have been reported. Ophthalmologists should seek a history of maternal warfarin ingestion when seeing a baby with congenital ocular abnormalities. They should also be aware of the possible teratogenic effects when considering warfarin therapy for a woman of childbearing age. Images PMID:7426582

Baillie, M.; Allen, E. D.; Elkington, A. R.

1980-01-01

242

Pathology Case Study: Irritable Bowel Syndrome (IBS)  

NSDL National Science Digital Library

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

Finkelstein, Sidney; Kulich, Scott

2009-08-07

243

Hypoglossia-Hypodactyly Syndrome with Short Stature - A Case Report  

PubMed Central

The Oromandibular Limb Hypogenesis Syndromes (OLHS) comprises a spectrum of disorders involving the tongue, mandible, and the limbs and are characterized by hypoplastic mandible, absence of the lower incisors, hypoglossia, digits and limbs abnormalities ranges from syndactyly to amelia. In this report, we report a case of OLHS with growth hormone deficiency as a cause of short stature, which has not been described previously to the best of our knowledge. PMID:24959494

Goyal, Manisha; Singh, Ankur; Singh, Pratiksha

2014-01-01

244

Crane–Heise syndrome: Two further case reports  

Microsoft Academic Search

Crane–Heise syndrome is a rare lethal and autosomal recessive condition which has been first reported in 1981 in three siblings presenting intrauterine growth retardation, a poorly mineralised calvarium, characteristic facial features comprising cleft lip and palate, hypertelorism, anteverted nares, low-set and posteriorly rotated ears, vertebral anomalies and absent clavicles. Since then, to our knowledge, only one isolated case and two siblings

Florence Petit; Louise Devisme; Annick Toutain; Véronique Houfflin-Debarge; Anne Dieux-Coeslier; Sylvie Manouvrier-Hanu; Joris Andrieux; Muriel Holder-Espinasse

2011-01-01

245

[Mediastinal localization of a growing teratoma syndrome: a case report].  

PubMed

The development of testicular germ cell tumors may be marked by a rare phenomenon: the growing teratoma syndrome. It consists of residual masses, usually retroperitoneal and, more rarely, thoracic, that appear during or after chemotherapy, although the tumor markers are normalized. We report a case of posterior mediastinal localization. This mediastinal localization is very rare, and because of the proximity to intercostal arteries, induces a risk of postoperative paraplegia. PMID:24646785

Ngabou, U D; Dusaud, M; Boddaert, G; Grand, B; Houlgatte, A; Pons, F

2014-08-01

246

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

PubMed

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

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

2014-06-01

247

PLJUA PRI ANTIFOSFOLIPIDNEM SINDROMU ñ PRIKAZ TREH BOLNIKOV LUNGS IN ANTIPHOSPHOLIPID SYNDROME ñ THREE CASE REPORTS  

Microsoft Academic Search

ñ Background. Three patients with antiphospholi- pid syndrome and lung involvement are presented. Except in one case, lung pathology was caused most probably by throm- botic and thrombembolic events in the lung circulation due to antiphospholipid syndrome. In one case however, equivalents of ARDS were observed with two differential diagnostic possi- bilities ñ catastrophic antiphospholipid syndrome and exa- cerbation of

Zlata Remökar

248

The first case of Bruck syndrome associated with gastroschisis.  

PubMed

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

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

2013-01-01

249

Hypercalcemia in pregnancy: a case of milk-alkali syndrome.  

PubMed

Milk-alkali syndrome is a rare cause of hypercalcemia characterized by the triad of hypercalcemia, renal insufficiency, and metabolic alkalosis that results from the overconsumption of calcium containing products. In the setting of pregnancy where there is a physiologic increase in calcium absorption, milk-alkali syndrome can be potentially life threatening. We report a case of a 26-year-old woman in her second trimester of pregnancy who presented with 2 weeks of flank pain, nausea, vomiting, anorexia, headache, and lightheadedness. The history revealed consumption of a large quantity of milk, calcium carbonate antacid, and calcium-containing prenatal vitamins. Her symptoms and hypercalcemia resolved with intravenous fluids and a loop diuretic. With the increased use of calcium carbonate for peptic ulcer disease, gastroesophageal reflux disease, and osteoporosis, milk-alkali syndrome has experienced a resurgence and must be considered in the differential diagnosis of hypercalcemia. In this clinical vignette we review the literature on milk-alkali syndrome in pregnancy and discuss important diagnostic and therapeutic considerations when managing the pregnant patient with hypercalcemia. PMID:21347876

Kolnick, Leanne; Harris, Bryan D; Choma, David P; Choma, Neesha N

2011-08-01

250

Broken Heart Syndrome: A Case Report  

PubMed Central

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

Jenab, Yaser; Taher, Mohamad; Shirzad, Samira

2012-01-01

251

[A case of serotonin syndrome following minimum doses of sertraline].  

PubMed

We report a 75-year-old woman developing serotonin syndrome following minimum doses of sertraline. She showed a depressed mood, insomnia, and general fatigue and was taking sulpiride at 300 mg/day, alprazolam at 1.2 mg/day, zopiclone at 7.5 mg/day, and etizolam at 1 mg/day. As she remained symptomatic, sertraline at 25 mg/day was added. Within 14 hours of starting sertraline, the patient began to experience delirium, impaired coordination, diaphoresis, tremulousness of the upper limbs bilaterally, and agitation. Sertraline was thus discontinued, and all of the above-mentioned symptoms disappeared rapidly. Serotonin syndrome is rarely reported in patients taking sertraline in Japan. To our knowledge, ours is the second case of serotonin syndrome associated with sertraline in Japan. According to Drug in Japan, sertraline must be started at the lowest efficacious dose with slow titration and is contraindicated for patients who are taking pimozide or monoamine oxidase inhibitors (MAOIs). Also, the coadministration of sertraline with other agents such as lithium, tricyclic antidepressants, and triptans necessitates the close observation of symptoms and signs. However, our case didn't take any of these combinations, and she was administered 25 mg/day, the lowest efficacious dose. This report emphasizes that caution is needed when prescribing sertraline to elderly patients and on its coadministration. PMID:19999561

Kan, Rumiko; Endou, Masatoshi; Unno, Yukihiro

2009-01-01

252

Werner’s Syndrome Associated with Malignancies:Five Case Reports with a Survey of Case Histories in Japan  

Microsoft Academic Search

We present 5 cases of Werner’s syndrome associated with malignancies and a survey of 26 cases in the Japanese literature. Though tumors of mesenchymal origin have been reported in Werner’s syndrome, 14 of the 31 cases cited in this paper developed carcinomas. Carcinoma of the thyroid gland was relatively high in frequency. The significance of carcinomas in Werner’s syndrome should

Kazuto Sato; Makoto Goto; Kusuki Nishioka; Kiminobu Arima; Natsuki Hori; Noriko Yamashita; Yoshihide Fujimoto; Hiroko Nanko; Kuniaki Ohara; Kunitoshi Ohara

1988-01-01

253

A case of neuroleptic malignant syndrome induced by perospirone  

PubMed Central

Summary Neuroleptic malignant syndrome (NMS) is a rare but life-threatening condition induced by neuroleptic medications. Its main symptoms include the rapid onset of fever, severe extrapyramidal symptoms, autonomic nervous system dysfunction, and impaired consciousness. In severe cases, acute renal failure and circulatory failure can develop, which can rapidly lead to death. In this case report, we discuss the etiology, pathophysiology and management of this condition in a female patient with NMS induced by perospirone. The case highlights the need for clinicians to be vigilant: rapid identification of NMS and vigorous symptomatic treatment of NMS symptoms is the key to decreasing the case-fatality of this rare but serious adverse reaction to antipsychotic medications. PMID:24991182

Chen, Jing; Zhi, Shengli

2013-01-01

254

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

PubMed

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

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

2014-07-01

255

Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report.  

PubMed

Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ain-hum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome. PMID:24346921

Corte, Liliam Dalla; Silva, Mariana Vale Scribel da; Oliveira, Carina Flores de; Vetoratto, Gerson; Steglich, Raquel Bissacotti; Borges, Josiane

2013-01-01

256

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

PubMed

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

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

2008-01-01

257

A Challenging Case of an Ectopic Cushing Syndrome  

PubMed Central

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

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

2014-01-01

258

Flatfoot in M?ller-Weiss syndrome: a case series  

PubMed Central

Introduction Spontaneous osteonecrosis of the navicular bone in adults is a rare entity, known as Müller-Weiss syndrome. We report here on our experience with six patients with Müller-Weiss syndrome accompanied by flatfoot deformity, but on a literature search found no reports on this phenomenon. Because the natural history and treatment are controversial, an understanding of how to manage this deformity may be helpful for surgeons when choosing the most appropriate operative procedure. Case presentation Six patients (five women, one man; average age, 54?years) with flatfoot caused by osteonecrosis of the navicular bone were followed up between January 2005 and December 2008 (mean follow-up period, 23.2?months). Conservative treatment, such as physical therapy, and non-steroidal anti-inflammatory drugs were used, but failed. Physical examinations revealed flattening of the medial arch of the involved foot and mild tenderness at the mid-tarsal joint. Weight-bearing X-rays (anterior-posterior and lateral views), computed tomography, and MRI scans were performed for each case. Talonavicular joint arthrodesis was performed in cases of single talonavicular joint arthritis. Triple arthrodesis was performed in cases of triple joint arthritis to reconstruct the medial arch. Clinical outcomes were assessed using the American Orthopaedic Foot and Ankle Society ankle-hindfoot scale; the scores were 63.0 pre-operatively and 89.8 post-operatively. All patients developed bony fusion. Conclusions The reason for the development of flatfoot in patients with Müller-Weiss syndrome is unknown. Surgical treatment may achieve favorable outcomes in terms of deformity correction, pain relief, and functional restoration. The choice of operative procedure may differ in patients with both flatfoot and posterior tibial tendon dysfunction. PMID:22853553

2012-01-01

259

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

PubMed Central

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

2012-01-01

260

[A case of hypothyroidism displaying "dropped head" syndrome].  

PubMed

We describe a patient with hypothyroidism displaying "dropped head" syndrome. A 50-year-old man visited our clinic because he was unable to hold his head in the natural position. He had weakness and hypertrophy of the neck extensor muscles. Tendon reflexes were diminished or absent in all limbs. Mounding phenomena were observed in the bilateral upper extremities. Blood biochemical analysis revealed hypothyroidism, hyperlipidemia, and elevated levels of muscle-derived enzymes. Magnetic resonance imaging (MRI) of the neck demonstrated swelling and hyperintensity of the neck extensor muscles on T2-weighted images. The result of biopsy of the right biceps brachii muscle suggested mild atrophy of type 2 fibers. The diameters of the muscle fibers exhibited mild variation. No inflammatory changes were observed. We diagnosed hin as having "dropped head" syndrome due to hypothyroidism. Administration of thyroid hormone agent gradually improved his condition, and he became able to hold his head in the natural position. Levels of muscle-derived enzymes normalized and his hyperlipidemia remitted. Neck MRI also revealed improvement. Our findings suggest that hypothyroidism should be considered in the differential diagnosis of "dropped head" syndrome, although only a few cases like ours have been reported. PMID:17491334

Furutani, Rikiya; Ishihara, Kenji; Miyazawa, Yumi; Suzuki, Yoshio; Shiota, Jun-Ichi; Kawamur, Mitsuru

2007-01-01

261

Marfan syndrome and symptomatic sacral cyst: Report of two cases  

PubMed Central

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

Arnold, Paul M.; Teuber, Jan

2013-01-01

262

A Case of Hypersensitivity Syndrome to Both Vancomycin and Teicoplanin  

PubMed Central

Drug hypersensitivity syndrome to both vancomycin and teicoplanin has not been previously reported. We describe here a 50-yr-old male patient with vertebral osteomyelitis and epidural abscess who developed hypersensitivity syndrome to both vancomycin and teicoplanin. Skin rash, fever, eosinophilia, interstitial pneumonitis, and interstitial nephritis developed following the administration of each drug, and resolved after withdrawing the drugs and treating with high dose corticosteroids. The vertebral osteomyelitis was successfully treated with 6-week course of linezolid without further complications. Skin patch tests for vancomycin and teicoplanin was done 2 months after the recovery; a weak positive result for vancomycin (10% aq.,+at D2 and +at D4 with erythema and vesicles; ICDRG scale), and a doubtful result for teicoplanin (4% aq.-at D2 and±at D4 with macular erythema; ICDRG scale). We present this case to alert clinicians to the hypersensitivity syndrome that can result from vancomycin and teicoplanin, with possible cross-reactivity, which could potentially be life-threatening. PMID:17179696

Kwon, Hyouk-Soo; Chang, Yoon-Seok; Jeong, Yi-Yeong; Lee, Sang-Min; Song, Woo-Jung; Kim, Hong-Bin; Kim, Yoon-Keun; Cho, Sang-Heon; Kim, You-Young

2006-01-01

263

Capsular block syndrome: a case report and literature review  

PubMed Central

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

Velez, Mauricio; Velasquez, Luis F; Rojas, Sebastian; Montoya, Laura; Zuluaga, Katherine; Balparda, Kepa

2014-01-01

264

[A case report on Waardenburg syndrome with cleft lip].  

PubMed

The syndrome of Waardenburg is a congenital plurimal formatif unit rare described and individualized for the first time by Waardenburg in 1951. It associates in its form most typical dystopie canthale intern, a widening of the base of the nose, disorders of the pigmentation. We wanted brought back this case because of its scarcity. It was about a 18 month old infant without particular antecedents, which was drawn up to us for correction of congenital malformation. The interrogation did not make it possible to find signs functional notable. With the examination it had a general good state. t presented a bilateral iridal hypochromy, a dystopie canthale, a canitie, a bilateral labial slit. The diagnosis of presumption was the Syndrome of Waardenburg because of the description of at least 2 major signs: dystopie canthale and disorders of the pigmentation. The complementary examinations carried out were those of the preoperative assessment which returned normal. The biological diagnosis which rests on the search for change of gene was not made for reasons of technical order and financier. The surgery is centered on the treatment of the labial slit. A chéiloplastie according to Millard was carried out. The continuations were simple. The Syndrome of Waardenburg is a rare, hereditary entity. A neurosensory deafness, musculo-skeletal anomalies, thus qu' a disease of Hirschsprung will have to be systematically required. The surgery of the slit or the télécanthus allows an social integration of the subjects reached. PMID:22766441

Traoré, H; Traoré, D; Ouane, O; Simpara, B; Ongoiba, N

2011-01-01

265

Painful ophthalmoplegia: a case of tolosa-hunt syndrome.  

PubMed

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

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

2014-11-01

266

Cantrell's Syndrome with left ventricular diverticulum: a case report.  

PubMed

Congenital left ventricular diverticulum is a rare condition. When found, it is usually accompanied by other intracardiac malformations, so that again further examination is indicated. Furthermore, it is usually associated with thoracoabdominal wall defect, as seen in the spectrum of Cantrell's pentalogy, a congenital anomaly consisting of a lower sternal defect, diastasis recti, pericardial defect, anterior diaphragmatic hernia and cardiac malformation. This paper reports a case of Cantrell's Syndrome with left ventricular diverticulum. Successful total correction of ventricular diverticulum, ventricular defects and diastasi recti, was performed at two years of age. The clinical features, ambryology and surgical management of these defects are discussed. PMID:23422578

Manieri, S; Adurno, G; Iorio, F; Tomasco, B; Vairo, U

2013-02-01

267

Congenital Bilateral Perislyvian Syndrome: Case Report and Review of Literature  

PubMed Central

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

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

2013-01-01

268

Persistent Mullerian duct syndrome in adult: a case report.  

PubMed

A twenty-eight year old phenotypically and genotypically normal male adult was admitted with a right inguinal hernia, a right retractile testis and left cryptorchidism. During surgery, he was found to have a uterus in the right spermatic cord and a left undescended testis (intra abdominal type). The uterus was excised, left orchidectomy, right orchidoplexy and right herniorrhaphy were performed. This rare case is reported as persistent Mullerian Duct Syndrome (PMDS) which is caused by impaired action of Mullerian Inhibiting Substance (MIS) in regressing the Mullerian duct. PMID:11253897

Sunpaweravong, S; Pripatnanont, C

2000-12-01

269

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

PubMed

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

Grover, Sandeep; Shah, Ruchita; Ghosh, Abhishek

2010-12-01

270

[Silent sinus syndrome (clinical case). New potential for enophthalmos correction].  

PubMed

Silent sinus syndrome (SSS) is a rare condition presenting with spontaneous enophthalmos and hypoglobus caused by volume reduction of maxillary sinus due to centripetal collapse of its walls. A case of SSS manifested during pregnancy in 43 years old patient is presented. In 16 months after manifestation of symptoms endoscopic sinus surgery was performed with no postoperative improvement of ocular symptoms. Intraorbital injection of stabilized hyaluronic acid gel was performed for correction of globe position. In control ultrasound examination color Doppler mapping revealed improvement of regional blood flow on the side of injection. PMID:23879026

Grusha, Ia O; Stoiukhina, A S; Kiseleva, T N

2013-01-01

271

Three cases of focal dermal hypoplasia (Goltz syndrome).  

PubMed

Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females and is characterized by hypoplasia of skin and papillomas. Three cases of focal dermal hypoplasia in infancy with unusual inheritance patterns are reported. Cutaneous features were atrophic reticulated scars involving the trunk and extremities following the lines of Blaschko. Papillomas were present on the genitalia and in a periorificial distribution. Skeletal abnormalities included syndactyly, polydactyly and lobster claw deformities. Ophthalmological examination revealed strabismus and retinal colobomas. PMID:15663499

Sacoor, M F; Motswaledi, M H

2005-01-01

272

Gorlin-goltz syndrome and stroke: a case report.  

PubMed

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

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

2014-09-01

273

A Case Report of Eosinophilic Esophagitis Accompanying Hypereosinophilic Syndrome  

PubMed Central

Hypereosinophilic syndrome is a blood disorder characterized by the overproduction of eosinophils in the bone marrow with persistent peripheral eosinophilia, associated with organ damage by the release of eosinophilic mediators. Although HES can involve multiple organ systems, GI tract involvement is very rare. Few cases of HES presenting with gastritis or enteritis have been reported worldwide. To date, HES presenting with esophagus involvement has only been reported once. Here, we present a 39-year-old Hispanic female patient with history of HES presenting with complaints of dysphagia and generalized pruritus. PMID:22900215

Jawairia, Mahreema; Shahzad, Ghulamullah; Singh, Jaspreet; Rizvon, Kaleem; Mustacchia, Paul

2012-01-01

274

Sonozaki syndrome: case report and review of literature.  

PubMed

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

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

2012-02-01

275

Four Case Histories and a Literature Review of Williams Syndrome and Autistic Behavior.  

ERIC Educational Resources Information Center

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…

Gillberg, Christopher; Rasmussen, Peder

1994-01-01

276

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

ERIC Educational Resources Information Center

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

Sung, Hyunsook; And Others

1997-01-01

277

Coronary-subclavian steal syndrome in a hemodialysis patient, a case report and review of literature.  

PubMed

Dialysis vascular access associated coronary-subclavian steal or hypoperfusion syndrome is an uncommon but potentially life threatening condition. Awareness of this syndrome is important in the management of vascular access in hemodialysis patients. We report a case of dialysis vascular access associated coronary-subclavian steal syndrome and review the literature on its pathogenesis and therapeutic implications. PMID:23458240

Tan, Chieh Suai; Fintelmann, Florian; Joe, Jennifer; Ganguli, Suvranu; Wu, Steven

2013-01-01

278

Stevens Johnson syndrome after carbamazepine and SJS/TEN overlap syndrome after amoxicillin: case reports and a review  

PubMed Central

We present a case of Stevens Johnson syndrome in a child after carbamazepine application and Stevens Johnson/TEN overlap syndrome in an adult after amoxicillin application. On the basis of two reported cases we review the most commonly associated drugs, the postulated pathogenesis, clinical manifestation and management in these severe life-threatening diseases. We especially discuss the controversial systemic corticosteroid therapy. Topical care is also discussed. PMID:22371734

Gocki, Jacek; Placek, Waldemar; Zegarska, Barbara; Krause, Pawe?

2010-01-01

279

Language and Emotional Knowledge: A Case Study on Ability and Disability in Williams Syndrome  

Microsoft Academic Search

Williams Syndrome provides a striking test case for discourses on disability, because the characteristics associated with\\u000a Williams Syndrome involve a combination of “abilities” and “disabilities”. For example, Williams Syndrome is associated with\\u000a disabilities in mathematics and spatial cognition. However, Williams Syndrome individuals also tend to “have a unique strength\\u000a in their expressive language skills”, and are socially outgoing and unselfconscious

Christine A. James

2009-01-01

280

[A case of rigid spine syndrome with rimmed vacuole].  

PubMed

A case of rigid spine syndrome associated with rimmed vacuoles in muscle biopsy is reported. A 36-year-old man was admitted to our hospital because of gait disturbance and limited mortality of the spine. His family was free from any neuromuscular disorders. He was born in normal pregnancy and delivery. His physical development was normal. At age 7, he was unable to run fast. At age 36, he had right hemiparesis and dysarthria. He was diagnosed as cerebral infarction of the left basal ganglia by brain CT. Neurological examination revealed moderate proximal dominant muscular atrophy and weakness. His spine was straight, showing loss of physiological cervical and lumbar lordosis. The neck flexion was limited but the extension was full. And he had contracture of bilateral ankle joint. Laboratory findings were all normal. The electrocardiogram showed negative T wave in V4, V5 and QT interval elongation. The echocardiogram showed diffuse decrease of ventricular wall motion. Respiratory function test revealed decrease of vital capacity. Arterial blood gases on room air showed that the PaO2 and PaCO2 were 70 mmHg and 49 mmHg, respectively. The findings of electromyogram were compatible with myopathic change. Biopsy specimen of the biceps brachii muscle showed marked variation in fiber size, type 1 fiber predominancy and atrophy, and type 2B fiber deficiency. Numerous rimmed vaculoes were found in the same muscle. Four cases of the rigid spine syndrome with rimmed vacuoles have been described. Among them, three patients died in young ages and two suffered from constrictive respiratory failure. In rigid spine syndrome with rimmed vacuole formation, the cardiac and respiratory problems must be taken account intensively. PMID:2205433

Onodera, O; Yamazaki, M; Atsumi, T; Miyatake, T; Izumi, T

1990-05-01

281

Reversible Pisa syndrome associated to subdural haematoma: case-report  

PubMed Central

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

2014-01-01

282

[Genetic syndromes that mimic congenital infections: report of 2 cases].  

PubMed

Genetic syndromes that mimic congenital infections must be recognized because of the associated risk of recurrence. We describe a male infant who was born with the association of intra-uterine growth retardation, microcephaly, intracranial calcifications, white matter abnormalities, microphtalmy, bilateral cataract, and hearing loss. Congenital cytomegalovirus (CMV) infection was suspected, but serologic CMV markers were not decisive (IgG+/IgM-). His half-sister (same father) presented a similar phenotype. Therefore, the diagnosis of congenital CMV infection was questioned and a genetic hypothesis was suggested. In 1983, Baraitser et al. first described two brothers with microcephaly and intracranial calcifications and negative TORCH analysis. Later, a number of authors reported children in whom detailed investigation failed to objectively confirm an intra-uterine infective agent. Clinical features include severe postnatal microcephaly, seizures, and pronounced developmental arrest. These cases have been considered to define a distinct autosomal recessive disorder first named pseudo-Torch syndrome. The family described herein is different from the cases previously described with a suspected autosomal dominant inheritance, severe ophtalmological abnormalities, and unusual brain imaging. PMID:21963371

Thibault, M; Leydet, J; Tournier-Lasserve, E; Crow, Y-J; Rivier, F; Echenne, B; Langlois, C; Daudet, H; Sarda, P; Roubertie, A

2011-12-01

283

Cushing syndrome and adrenal carcinoma: a clinical case.  

PubMed

A 21-year-old girl arrived at our hospital with a short history of hirsutism, facial pletora, amenorrhea, progressive weight gain and hypertension. The clinically suspected Cushing syndrome was then confirmed through chemical pathology. In fact, the results from hemato-chemical exams were: 45.5 Ig/dl cortisol, a DHEA sulphate >8000 ng/ml, 7.2 pg/ml ACTH, 17OH-Progesterone 10.66 ng/ml, Delta-4 Androstenedione 5.2 ng/ml, UFC (Urine Free Cortisol) >1000 mg/24h, FSH 0.8 mUI/ml, LH < 0.1 mUI/ml, Prolactin 13, 17, estradiol 96 pg/ml, and a bonded hypokalaemia, K+ 2,4 mEq/L. The echogram of the complete abdomen reveals, near the superior pole of the left kidney, the presence of a solid mass, not independent from the pole itself about 9.5 centimetres long, diagnosis confirmed to the TC abdomen and pelvis too, with or without mdc. This removed mass resulted, from the histological exam, in an adrenal carcinoma with a general and trabecular structure. Primal adrenal tumours are responsible for about 10% of Cushing syndrome cases. They present an annual incidence of 0.5 - 2.0 cases per million of inhabitants. The prognosis of adrenal ca remains low, with 5 year survival rate for 38% of diagnosed patients. PMID:19537129

Candela, Giancarlo; Varriale, Sergio; Manetta, Fiorenza; Di Libero, Lorenzo; Giordano, Marco; Santini, Luigi

2009-01-01

284

Case of Cronkhite Canada syndrome shows improvement with enteral supplements.  

PubMed

Cronkhite-Canada syndrome (CCS) is a rare nonfamilial syndrome characterized by marked epithelial disturbances in the GI tract and epidermis. Cronkhite and Canada described the first 2 cases in 1955. Since then only about 450 cases have been reported worldwide. Here we report a 33 year old Indian male admitted with history of loose stools and abdominal pain, loose stools associated with weight loss, generalized weakness, significant amount of hair loss as well as hyperpigmentation of his palms and soles. On subsequent days of the stay in the hospital he developed hypogeusia and showed onychodystrophy. Endoscopy of Upper GI and Lower GI tract revealed severe gastroduodenitis with polyp in duodenum and multiple polyps whole throughout the colon respectively. Biopsy report showed eosinophilic gastritis and hamartomatous polyps in colon as well as in duodenum. He was started on high protein supplement, proton pump inhibitors and zinc-vitamin supplement and he showed a complete recovery in symptoms within 5 months of initiation of treatment. Hence, early diagnosis and initiation of appropriate treatment helped the patient to improve in symptoms from such a rare disease. PMID:23029747

Lipin, S P; Paul, Baby; Nazimudeen, E; Jacob, Baiju Sam

2012-04-01

285

[Middle aortic syndrome: a report of three pediatric cases].  

PubMed

The middle aortic syndrome (MAS) is caused by stenosis of the abdominal aorta, often accompanied by concomitant stenosis of the renal or visceral arteries. Although MAS is uncommon (0.5-2%), it is an important cause of hypertension in children and adolescents. It is thought to originate in a failure of the two dorsal aortas to fuse during embryological development, and a high percentage of cases are idiopathic. MAS affects the segment of the aorta between the renal arteries in 54% of cases. Clinically, it courses with symptomatic or asymptomatic arterial hypertension. On physical examination, findings include an abdominal bruit, diminished or absent femoral pulses, and a difference between the arterial pressure of the upper and lower limbs. Angiography is the technique of choice, although noninvasive MR angiography and CT angiography have similar diagnostic accuracy. Ultrasonography is the primary screening technique. Medical treatment consists of a combination of different antihypertensives. Surgical treatment can be curative. PMID:21724214

Martínez León, M I; Alcaide Martín, D; García-Herrera Taillefer, P; Ramos Rodríguez, R

2013-09-01

286

"A forgotten disease": a case of Lemierre syndrome.  

PubMed

Lemierre's syndrome is a rare but a life threatening condition which affects young healthy individuals, was first described by Dr.Andre Lemierre in 1936. Incidence rates are between 0.6 and 2.3 per million population. It is found more commonly in males, with a male to female ratio of approximately 2:1. Its pathogenesis consists of the development of infectious thrombophlebitis in the internal jugular vein or one of its branches caused by a focal sepsis, mostly localized in the oropharynx, leading to generalized multiorgan metastatic infections, generally to the lung. This computerized tomography (CT) neck with intravenous contrast is from a 24 year old female who presented with a two day history of fever, hypotension and respiratory failure. The physical exam was positive for diminished breath sounds bilaterally on lung exam. Complete blood count revealed a leukocytosis of 16,200 u/L with 70% neutrophils and 9% bands, hemoglobin of 13.4mg/dl and severe thrombocytopenia with a platelet count of 34,000 u/L; comprehensive metabolic panel revealed sodium 140mmol/L, potassium 2.9mmol/L, bicarbonate 26mmol/L, blood urea nitrogen (BUN) 16mg/dl, creatinine 0.8mg/dl, calcium 7.2 mg/dl, albumin 2.4g/dl, total bilurubin 3.1mg/dl, AST 81 U/L, ALK 101 U/L, ALT 35U/L. CT chest revealed multiple cavitary opacities in both lungs. Blood cultures were positive for Fusobacterium necrophorum. CT scan neck showed a filling defect of the right internal jugular vein consistent with a thrombus and multiple enlarged cervical lymph nodes. Treatment is medical with intravenous antibiotics and anticoagulation. References: 1. Carlson ER, Bergamo DF, Coccia CT. Lemierre's syndrome: two cases of a forgotten disease. J Oral Maxillofac Surg 1994; 52:74-78. 2. Moore-Gillon J, Lee TH, Eykyn SJ, Phillips I. Necrobacillosis: a forgotten disease. BMJ 1984;288:1526-1527. 3. Jones C, Siva TM, Seymour FK, O'Reilly BJ. Lemierre's syndrome presenting with peritonsillar abscess and VIth cranial nerve palsy. J Laryngol Otol 2006;120:502-504 4. Mohammed Iqbal Syed et al. Lemierre Syndrome: Two Cases and a Review. Laryngoscope, 117:1605-1610, 2007 5. Vohra A, Saiz E, Ratzan KR. A young woman with a sore throat, septicaemia, and respiratory failure. Lancet 1997; 350:928. PMID:19468652

Velagapudi, P; Turagam, Mohit; Are, C; Patel, H; Yekkirala, L

2009-01-01

287

Anticonvulsant hypersensitivity syndrome associated with carbamazepine administration: Case series  

PubMed Central

Hypersensitivity reactions are common adverse drug reactions (ADRs) associated with antiepileptics. Carbamazepine is one of the routinely prescribed drugs for the treatment of epilepsy and neuropathic pain. ADRs due to carbamazepine range from mild maculopapular rash to severe anticonvulsant hypersensitivity syndrome (AHS). AHS is the triad of fever, rash, and internal organ involvement occurring 1-8 weeks after exposure to an anticonvulsant (1 in 1,000 to 10,000 exposures). Spontaneously reported three cases of AHS-drug hypersensitivity reactions induced by carbamazepine are discussed here. Seven to ten days after starting therapy, patients developed maculopapular skin rashes, fever and liver or kidney involvement. The causal relationship between drug and ADR was found to be ‘certain’ in one case and ‘probable’ in other two cases with both WHO-UMC and Naranjo causality assessment scale. All the three cases show category 4a according to Hartwig's severity scale as ADR was the cause for hospital admission. On assessing preventability of ADRs by modified Schumock and Thorntons’ scale, one case was falling into category of ‘definitely preventable’ and other two were ‘not preventable’. AHS is rare but serious reaction with carbamazepine which requires vigilant monitoring by physicians to avoid major consequences. PMID:24554914

Mehta, Maulin; Shah, Jay; Khakhkhar, Tejas; Shah, Rima; Hemavathi, K. G.

2014-01-01

288

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

PubMed Central

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

2014-01-01

289

Group a streptococcal toxic shock syndrome with severe necrotizing fasciitis following hysterectomy — a case report  

Microsoft Academic Search

In the last 10 years an increasing number of cases of group A streptococcal toxic shock syndrome have appeared in various\\u000a clinical settings. The manifestation of this syndrome includes rapidly progressive multiorgan failure and soft-tissue necrosis.\\u000a \\u000a This report presents a case of streptococcal toxic shock syndrome caused by Streptococcus pyogenes with severe necrotizing fasciitis of the abdominal wall following hysterectomy.

M. Loscar; G. Schelling; M. Haller; J. Polasek; C. Stoll; U. Kreimeier; U. Finsterer; J. Briegel; H. O. Steitz; R. Baumeister; R. Kimmig; B. Grabein

1998-01-01

290

A Reversible Case of Klüver-Bucy Syndrome in Association With Shigellosis  

Microsoft Academic Search

The Klüver-Bucy syndrome is characterized by psychic blindness or visual agnosia, blunted affect, hypermetamorphosis, hyperorality, bulimia, and sexual behavioral alterations. To date, there have been fewer than 10 reported cases of Klüver-Bucy syndrome in children, most of them irreversible. We describe here a reversible case of the complete Klüver-Bucy syndrome in a child suffering from Shigella encephalopathy. (J Child Neurol

Judith S. B. Guedalia; Zoli Zlotogorski; Avner Goren; Abraham Steinberg

1993-01-01

291

Wilms' tumor in a case with Möbius' syndrome associated with arthrogryposis and mega cisterna magna.  

PubMed

Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interesting because she developed Wilms' tumor at 21 months of age. To our knowledge, this is the first case of this association reported in the literature. PMID:15032390

Yaris, Nilgun; Aynaci, F Müjgan; Kalyoncu, Mukaddes; Odemi?, Ender; Okten, Aysenur

2004-01-01

292

Bariatric Surgery in Hypothalamic Obesity  

PubMed Central

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

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

2012-01-01

293

Fat Embolism Syndrome After Femur Fracture Fixation: a Case Report  

PubMed Central

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

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

2014-01-01

294

Median and anterior interosseous nerve entrapment syndromes versus carpal tunnel syndrome: a study of two cases  

PubMed Central

Two patients presented with forearm and hand pain, and were initially examined by their medical doctors. The first case was diagnosed as a possible neuralgia due to congenital cervical spinal fusion. The second case had a radiographic study taken of the elbow and hand, which was negative and therefore no conclusive diagnosis or treatment was given. This article will discuss the anatomical path of the median and anterior interosseous nerves in the forearm, the possible areas of neural entrapment or irritation and the resulting symptoms and signs as compared to carpal tunnel syndrome. The patient’s presenting symptoms were found to be the most significant detail when differentiating the type of neurological entrapment. In both cases, the patients presented with a gradual progression of anterior forearm pain, numbness or discomfort that radiated to the hand and fingers. To find the cause of this repetitive type of irritation, the functional movement patterns of the upper extremity kinetic chain was assessed including the cervicothoracic and scapulothoracic regions. Provocative tests were used to confirm the site of irritation. The first case showed pronator quadratus weakness. The second patient’s symptoms were reproduced with resisted elbow flexion and pronation while digital pressure was applied to the median nerve. Acute care was directed at the specific area of irritation/inflammation with electrotherapeusis. The treatment also consisted of spinal and joint manipulation, proprioceptive neuromuscular facilitation techniques, strengthening and endurance rehabilitation exercises aimed at restoring the proper kinematics of the upper extremity

Tchoryk, Jerry

2000-01-01

295

Consonants in Cri du chat syndrome: a case study.  

PubMed

This article reports on a longitudinal case study of consonant productions in one Norwegian girl with Cri du chat syndrome from age 4;6 to age 9;4. It was shown that she had many articulation errors throughout the period of observation. Furthermore, these errors were shown to fall into three main categories: (1) errors of differentiation and tuning, (2) errors of coordination and sequencing, and (3) missing gestures. Also, omissions of segments were reported to be frequent. In sum, the consonant productions by this girl were found to be both delayed and deviant, as compared to normally developing children. The number of errors, however, decreased as she grew older, resulting in more accurate renditions of the target words. PMID:17949737

Kristoffersen, Kristian Emil

2008-01-01

296

Marfan syndrome in an Iranian family: a case series.  

PubMed

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

Davari, Mohammad Hossein; Kazemi, Toba

2014-07-01

297

[Leber's miliary aneurysms associated with vitreomacular traction syndrome: case report].  

PubMed

Retinal telangiectasias are idiopathic vascular abnormalities of the retina characterized by irregular dilatation of the retinal vessels, intraretinal and subretinal exudation. The aim of this article is to describe the uncommon association of Leber's miliary aneurysms and vitreomacular traction syndrome in a female patient. The diagnosis was established with angiofluoresceinography and optic coherence tomography. The patient was treated with focal photocoagulation with argon green laser directed to the perimacular aneurysms and pars plana posterior vitrectomy. The visual acuity showed great improvement after a four-month follow-up. The present report supports the importance of optic coherence tomography in cases where the vitreoretinal interface must be evaluated, including vascular pathologies, which allowed us to offer a better treatment to this patient. PMID:18157318

Násser, Luciano Sólia; Almeida, Herbert Paulo de; Zacarias, Leandro Cabral; Abujamra, Suel; Gomes, André Marcelo Vieira

2007-01-01

298

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

PubMed

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

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

299

Ogilvie's syndrome in a case of myxedema coma  

PubMed Central

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

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

2012-01-01

300

First Case Report of Turcot Syndrome Type 1 in Colombia  

PubMed Central

Turcot syndrome is an autosomal recessive disorder clinically characterized by the occurrence of primary tumors of the central nervous system and adenomatous colonic polyps during the first or second decades of life, with a spectrum of clinical features such as “café-au-lait” spots, axillary freckling, and hyperpigmented spots. Currently its prevalence globally and in Colombia remains unknown. We present the case of a 20-year-old male with a clinical presentation of both glioblastoma multiforme and multiple adenomatous colonic polyps. The molecular genetics study revealed a mutation in KrasAsp12 gene and altered expression of HMSH2 and HMSH6 proteins encoded by the DNA mismatch repair genes in two of the colonic polyps. Even though this clinical presentation may suggest a shorter survival rate, this patient is still alive after seven months of treatment. A literature review complements this report. PMID:23320220

Dora, Vallejo; Diego, Garnica; Rómulo, Bonilla; Natalia, Olaya

2012-01-01

301

Sensory Guillain-Barr? syndrome: A case report  

PubMed Central

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

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

2014-01-01

302

Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.  

PubMed

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

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

2013-01-01

303

Marfan Syndrome in an Iranian Family: A Case Series  

PubMed Central

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

Davari, Mohammad Hossein; Kazemi, Toba

2014-01-01

304

A case of hemolytic uremic syndrome preceded by intussusception  

PubMed Central

Hemolytic-uremic syndrome (HUS) is the most common cause of acute renal failure in young children. It is classically characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and uremia. Further, not only is intussusception one of the differential diagnoses of HUS but it may also become a complication during disease progression. We report a case of HUS preceded by intussusception in a previously healthy 17-month-old boy. The patient presented at the emergency department with bloody stools that developed the day after reduction of intussusception. HUS was diagnosed 4 days after the reduction of intussusception. The patient was provided only supportive care and his laboratory test findings were normal at discharge. PMID:21738552

Ko, Eun Young; Kim, Joo Young; Lee, Hye Jin; Lee, Hyun Seung; Han, Ji Whan; Kim, Young Hoon; Kim, Jin Tack; Cheong, Hae Il

2011-01-01

305

Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report  

PubMed Central

Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection. Case presentation A 33-year-old Chinese Han man underwent small bowel resection leaving only 40 cm of bowel, without an ileocecal valve, 12 years previously. At that time he was weaned from total parenteral nutrition and had a normal diet. He later developed features of severe malnutrition, and when parenteral nutrition was given, he developed re-feeding syndrome. Conclusion Although re-feeding syndrome is a common complication in patients with any kind of nutritional support, and known to us for many years, high risk patients still need more attention and monitoring. Re-feeding syndrome in this case was not only a macronutrients deficiency but also a micronutrient deficient, and prompt supplement therapy and organ function support proved to be successful. PMID:22647322

2012-01-01

306

Embryo with XYY syndrome presenting with clubfoot: a case report  

Microsoft Academic Search

Talipes equinovarus (clubfoot) is a skeletal anomaly of the embryo's legs, with a frequency of 1-3:1000 living born babies. It may occur as an independent anomaly, or as part of a syndrome with concomitant chromosomal abnormalities. XYY syndrome is a quite rare sex chromosomal abnormality with 47, XYY karyotype. Prenatal diagnosis is usually accidental because the syndrome is not associated

Dimitrios Athanatos; Christos Tsakalidis; George P Tampakoudis; Maria N Papastergiou; Fillipos Tzevelekis; George Pados; Efstratios A Assimakopoulos

2009-01-01

307

Case for diagnosis: (Ectodermal dysplasia: Christ-Siemens-Touraine syndrome).  

PubMed

Christ-Siemens-Touraine syndrome (hypohidrotic ectodermal dysplasia) is a rare syndrome characterized by the triad of absent or reduced sweating, hypotrichosis, and defective dentition. The prominent forehead, saddle nose, thick lower lip and pointy chin produce a distinctive facies. The full syndrome only occurs in men as it is an X-linked recessive condition. PMID:19503990

Succi, Isabella Brasil; Fontenelle, Elisa

2009-01-01

308

[Case of hemophagocytic syndrome associated with active dermatomyositis].  

PubMed

We report a case of dermatomyositis (DM) with hemophagocytic syndrome (HPS). The patient is a 60 year old male admitted to our hospital with muscle weakness, high fever, weight loss and pancytopenia. On physical examination, proximal muscle weakness and skin rash on the back were noted. Laboratory data revealed elevated serum levels of muscle enzymes, lactate dehydrogenase and ferritin. Serum levels of M-CSF, TNF-alpha, soluble IL 2 receptor were remarkably increased. Bone marrow aspiration showed histiocytosis of 7 to 10% with prominent hemophagocytosis. Gastroendoscopic examination revealed II-a gastric cancer. He was treated with methylprednisolone (m-PSL) pulse theraphy (1 g/ day x 3 days) followed by 60 mg/day oral prednisolone. He quickly responded to the treatment and laboratory data returned to normal in 20 days despite the remaining gastric cancer which was removed successfully 3 months later. HPS is a rare complication of DM and only three cases have been documented so far in the literature. Augmented cytokine in his serum is considered to be closely related to HPS in this case. PMID:16583741

Sugihara, Takahiko; Imai, Yasuhumi; Sakurai, Tetsushi

2002-08-01

309

Dissociations in mathematical knowledge: case studies in Down's syndrome and Williams syndrome.  

PubMed

A study is reported of mathematical vocabulary and factual mathematical knowledge in PQ, a 22 year old with Down's syndrome (DS) who has a verbal mental age (MA) of 9 years 2 months and ST, a 15 year old with Williams syndrome (WS) who has a verbal MA of 9 years 6 months, matched to typically developing controls. The number of mathematical words contained within PQ's lexical stores was significantly reduced as reflected by performance on lexical decision. PQ was also impaired at both naming from descriptions and describing mathematical words. These results contrast with normal lexical decision and item descriptions for concrete words reported recently for PQ (Robinson and Temple, 2010). PQ's recall of mathematical facts was also impaired, whilst his recall of general knowledge facts was normal. This performance in DS indicates a deficit in both lexical representation and semantic knowledge for mathematical words and mathematical facts. In contrast, ST, the teenager with WS had good accuracy on lexical decision, naming and generating definitions for mathematical words. This contrasted with the atypical performance with concrete words recently reported for ST (Robinson and Temple, 2009). Knowledge of addition facts and general knowledge facts was also unimpaired for ST, though knowledge of multiplication facts was weak. Together the cases form a double dissociation and provide support for the distinct representation of mathematical and concrete items within the lexical-semantic system during development. The dissociations between mathematical and general factual knowledge also indicate that different types of factual knowledge may be selectively impaired during development. There is further support for a modular structure within which mathematical vocabulary and mathematical knowledge have distinct representations. This supports the case for the independent representation of factual and language-based knowledge within the semantic system during development. PMID:22208902

Robinson, Sally J; Temple, Christine M

2013-02-01

310

Papillon-Lefèvre syndrome: report of three cases in the same family.  

PubMed

Papillon-Lefèvre syndrome is a rare autosomal recessive disorder caused by cathepsin C gene mutation leading to the deficiency of cathepsin C enzymatic activity. The disease is characterized by palmoplantar hyperkeratosis, periodontopathy and precocious loss of dentition, and increased susceptibility to infections. Pyogenic liver abscess is an increasingly recognized complication. Three cases of Papillon-Lefevre syndrome in the same family are presented here. Two of the three siblings presented with characteristic manifestations of the syndrome. The third case had died previously due to liver abscess prior to a diagnosis of Papillon-Lefèvre syndrome. PMID:22734305

Keskin-Yildirim, Zuhal; Sim?ek-Derelio?lu, Sera; Kantarci, Mecit; Yilmaz, Yücel; Büyükavci, Mustafa

2012-01-01

311

Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up.  

PubMed

Genitopatellar syndrome is one of the syndromes described in the last decade. It is characterized by agenesis of the corpus callosum, absent or hypoplastic patellae, extremity contractures, skeletal anomalies, urogenital anomalies, and facial dysmorphic features. While writing this report, only 15 cases have been reported in the literature. The etiology, clinical features, management, and natural history of this syndrome are not yet well established. Past reports in the literature have not been able to identify the exact genetic etiology but it somewhat coincides with nail patella syndrome and short patella syndrome. We would like to introduce this terminology to the orthopedic community and highlight the clinical features of the genitopatellar syndrome. To the best of our knowledge, this is a single case report with the longest follow-up of 11 years in the literature. PMID:22568963

To, Michael; Negandhi, Rajiv; Cheung, Kenneth; Cheung, Wai Yuen; Chow, Wang

2013-07-01

312

Hallermann-Streiff syndrome without cataract: case report from Kosova.  

PubMed

Hallermann-Streiff syndrome is a rare congenital disorder characterized as a complex association of developmental anomalies involving structures of ectodermal origin (the face, the scull, the hair, the skin, the eyes, the teeth) and overall growth and development. Ophthalmic abnormalities included bilateral congenital cataract. Glaucoma is uncommon. We report a case with Hallermann-Streiffsyndrome having all the main features of the syndrome, however associated with juvenile glaucoma and without congenital cataract. An 16 year-old-boy was admitted in our hospital for surgical treatment of juvenile glaucoma. His ophthalmic features included microphthalmos, enophthalmos, short upper lid, and thin conjunctiva, edematous corneas with fine epithelial bulla, atrophic-colobomatous iris in the left eye, slightly dilated pupils and clear lenses. The right optic disc was pale and cupped (0.9-1). The left optic disc was pale. The IOP was 70 mmHg in the right eye and 62 mmHg in the left eye. There was no light perception on the right eye and 1/60 in the left improving to 0.1 with +7.0 Dsph. Antiglaucomatous therapy failed to reduce the pressure and a left trabeculecthomy was carried out. Protective eye shields during sleep were recommended to protect the corneas from dryness because of the short upper lids. In the left eye the IOP has fallen to within normal limits and the vision has improved 0.3-0.4 with +7.0 Dsph. The medical therapy was continued in the right eye but the pressure still remains high (40 mmHg). PMID:24601178

Daka, Qendresë; Miftari, Adem; Vuciterrna, Afrim; Shiroka, Laura; Bucinca, Suzana; Capuni-Brestovci, Meshqyre

2013-01-01

313

[Case of toxic shock-like syndrome affecting the neck].  

PubMed

Toxic shock-like syndrome (TSLS) is a form of rapidly progressing septic shock that can lead to multiple organ failure and has a high mortality rate of 30%. We report a rare case of TSLS affecting the head and neck. A 40-year-old man complained of redness and swelling of the neck with vomiting and diarrhea. His blood pressure dropped, and multiple organ failure occurred. Streptcoccus pyogenes, Group A, was identified in a blood culture, and he was diagnosed as having TSLS. He was treated with high-dose carbapenem, clindamysin, and gamma globulin. Continuous hemodiafiltration (CHDF) and PMX-DHP was applied to prevent sepsis and multiple organ failure. Debridement of the neck was performed on day 16. He recovered gradually and was discharged from hospital on day 45. A total resection is required to treat TSLS, but such a procedure is difficult to perform in the head and neck region. Our case improved without resection but after debridement and general control. TSLS should be first treated by medication and then by surgery, consisting of either debridement or resection. PMID:17025221

Saka, Naoki; Seo, Toru; Kashiba, Keiko; Nishida, Takaya

2006-09-01

314

Systemic capillary leak syndrome under general anesthesia: a case report  

PubMed Central

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

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

2014-01-01

315

[Radiculopathy in patients with Heerfordt's syndrome: two case presentations and review of the literature].  

PubMed

As a subtype of the clinical presentations associated with sarcoidosis, the combination of uveitis, parotid gland swelling, and facial nerve palsy is known as Heerfordt's syndrome. This syndrome is an extremely rare disorder that has been estimated to affect only 4.1-5.6% of patients with sarcoidosis. We present 2 cases of Heerfordt's syndrome associated with radiculopathy in the trunk. The 2 patients experienced unilateral or bilateral radiculopathy in the trunk and in the trigeminal nerve area associated with Heerfordt's syndrome. Radiculopathy is also a rare manifestation in patients with neurosarcoidosis. A literature review revealed that only 51 cases of radiculopathy associated with sarcoidosis have been documented. A diagnosis of Heerfordt's syndrome was observed in 7 out of these 51 cases. Together with our 2 cases, 9 out of 53 patients with radiculopathy associated with sarcoidosis have been diagnosed as having Heerfordt's syndrome (estimated frequency, 16.9%). In conclusion, radiculopathy is a common neurological manifestation in patients with Heerfordt's syndrome. On the basis of our experience, we suggest that physicians consider the possibility of Heerfordt's syndrome in cases of radiculopathy with unknown cause. PMID:23917502

Fukuhara, Kousuke; Fukuhara, Aika; Tsugawa, Jun; Oma, Shinji; Tsuboi, Yoshio

2013-08-01

316

Mondini deformity in a case of Turner syndrome. A radiological finding.  

PubMed

Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. PMID:21529720

Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel

2012-01-01

317

Acute carpal tunnel syndrome secondary to iatrogenic hemorrhage. A case report  

Microsoft Academic Search

Carpal tunnel syndrome is a common compression neuropathy of the median nerve. Acute carpal tunnel syndrome (aCTS) is rare,\\u000a associated with a variety of conditions. In this case report we present a patient who developed aCTS and volar forearm compartment\\u000a syndrome after a radial artery line placement, while receiving intravenous heparin. The patient underwent immediate forearm\\u000a fasciotomy and surgical release

George Kokosis; Gert Blueschke; Matthew Blanton; Howard Levinson; Detlev Erdmann

2011-01-01

318

[Cryptorchidism with didymo-epididymal dissociation and Robinow's syndrome: 2 case reports].  

PubMed

Two brothers of normal not consanguineous parents, with bilateral intrabdominal cryptorchidism, were admitted to our Institution. Both children had short stature, limb and hand malformations and craniofacial patterns of Robinow syndrome. During the orchidopexy, bilateral epididymal and vasal abnormalities were found in both of them. This anomaly associated with Robinow syndrome has never been reported before. These two cases provides the Authors with the opportunity of reviewing clinical features, genetics and radiological patterns of this rare syndrome. PMID:9312747

Fabbro, M A; D'Agostino, S; Costa, L; Musi, L; Cappellari, F

1997-01-01

319

Sick sinus syndrome associated with hypopituitarism: a case report and literature review  

PubMed Central

Abstract Though an association between autoimmune diseases and sick sinus syndrome has been reported, there has been no report on the association of hypopituitarism and sick sinus syndrome. Herein, we provide the first case report of hypopituitarism accompanying sick sinus syndrome in a 51-year-old woman presented to our hospital with syncope due to cardiac arrest. The patient was successfully managed by pacemaker installation and hormone replacement therapy. PMID:25332716

Zhao, Dongsheng; Zhang, Qing; Lu, Jingping; Zhang, Gang; Lu, Huihe; Huang, Jianfei; Shan, Qijun

2014-01-01

320

Clear otorrhea: a case of Munchausen syndrome in a pediatric patient  

PubMed Central

This paper reports a case of Munchausen syndrome in a pediatric patient. An 11-year-old girl presented with the complaint of clear fluid otorrhea. She underwent numerous investigations with deception of the physicians. The literature with respect to Munchausen syndrome in the pediatric patient is reviewed. Diagnosis of Munchausen syndrome is difficult especially during the initial assessment, although suspicion might be aroused by inconsistencies in the patient’s history and discrepancies between signs and symptoms. PMID:18030485

Ozmen, Omer Afsin; Y?lmaz, Taner

2007-01-01

321

Colonic diverticulitis in adolescents: an index case and associated syndromes  

Microsoft Academic Search

Diverticular disease of the colon, a common problem among adults, is diagnosed rarely in children. We report an adolescent\\u000a patient with sigmoid diverticulitis who required operative treatment. Pediatric patients with the complications of diverticula\\u000a typically have conditions that result in genetic alterations affecting the components of the colonic wall. Our patient had\\u000a Williams–Beuren syndrome, although Ehlers–Danlos syndrome, Marfan syndrome, and

Brian J. Santin; Vinay Prasad; Donna A. Caniano

2009-01-01

322

Gradenigo's syndrome: is fusobacterium different? Two cases and review of the literature.  

PubMed

Gradenigo's syndrome is a rare but life threatening complication of acute otitis media (AOM), which includes a classic triad of otitis media, deep facial pain and ipsilateral abducens nerve paralysis. The incidence of Fusobacterium necrophorum infections has increased in recent years. We describe two cases of Gradenigo's syndrome caused by F. necrophorum. Additional four cases were identified in a review of the literature. Gradenigo's syndrome as well as other neurologic complications should be considered in cases of complicated acute otitis media. F. necrophorum should be empirically treated while awaiting culture results. PMID:24315216

Heshin-Bekenstein, Merav; Megged, Orli; Peleg, Uri; Shahroor-Karni, Sarit; Bass, Roman; Benifla, Moni; Bar-Meir, Maskit

2014-01-01

323

[Crohn's disease and the SAPHO syndrome during treatment with infliximab: a case report and review of literature].  

PubMed

We report the case of a 40 year-old Turkish woman with severe ileal Crohn's disease associated with palmoplantar pustulosis and aseptic spondylitis, also known as the SAPHO syndrome. However, in the present case, the syndrome developed three months after starting infliximab (Remicade) therapy, which is generally used to treat the SAPHO syndrome. This case-report discusses the unclear relationship between Crohn's disease, the appearance of a SAPHO syndrome and treatment with infliximab. PMID:17646788

Van Den Eynde, Marc; Lecluyse, Katrien; Chioccioli, Cristiano; Brouckaert, Marie; Caussin, Emmanuelle; Lammens, Pierre

2007-01-01

324

Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy—a case report  

Microsoft Academic Search

Williams-Beuren syndrome is a genetic disorder caused by a heterozygous deletion at 7q11.23. The present report describes a female patient with Williams-Beuren syndrome combined with caudal regression syndrome and two forms of coagulopathy. Besides the typical developmental abnormalities such as mental and growth retardation, a distinctive facial appearance, and cardiovascular anomalies, our patient showed fusion of fourth and fifth lumbar

Georg Singer; Johannes Schalamon; Herwig Ainoedhofer; Erwin Petek; Peter M. Kroisel; Michael E. Höllwarth

2005-01-01

325

Dropped head syndrome induced by chemoradiotherapy for nasopharyngeal carcinoma: a case report.  

PubMed

'Dropped head syndrome' (DHS) is characterized by severe weakness of the muscles of the back of the neck, resulting in chin-on-chest deformity. Dropped head syndrome induced by radiotherapy is very rare. We report a case of DHS following chemoradiotherapy with a total of 64.8 Gy in 36 fractions for nasopharyngeal carcinoma. PMID:22914321

Hashimoto, Yaichiro; Maebayashi, Katsuya; Izumi, Sachiko; Motegi, Atsushi; Mitsuhashi, Norio

2012-11-01

326

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

ERIC Educational Resources Information Center

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

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

1999-01-01

327

Grammatical Constructions in Cri du Chat Syndrome--Findings from a Case Study  

ERIC Educational Resources Information Center

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.…

Kristoffersen, Kristian Emil

2009-01-01

328

Intraoperative dynamic angiography to detect resolution of Bow Hunter's syndrome: technical case report  

Microsoft Academic Search

BackgroundBow Hunter's syndrome is a rare form of vertebrobasilar insufficiency that may be successfully treated by surgical intervention. Use of intraoperative dynamic transcranial Doppler ultrasound for surgical treatment of vertebrobasilar insufficiency has been described in literature. However, this technique was inconsistent and unreliable in some patients. We present a case of a patient with Bow Hunter's syndrome treated surgically and

Gregory J. Velat; John F. Reavey-Cantwell; Arthur J. Ulm; Stephen B. Lewis

2006-01-01

329

Persistent Sexual Arousal Syndrome: A Case Report and Review of the Literature  

Microsoft Academic Search

This article describes a case of persistent sexual arousal syndrome (PSAS) seen by the Gynecology Consult Service of the National Institutes of Health. This syndrome was first described in 2001 and is characterized by excessive and unrelenting sexual arousal in the absence of desire. PSAS has only recently come to the attention of the health care community, and its prevalence

Sheila Mahoney; Carlos Zarate Jr

2007-01-01

330

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

PubMed Central

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

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

2013-01-01

331

Case report of MR perfusion imaging in Sinking Skin Flap Syndrome: growing evidence for hemodynamic impairment  

Microsoft Academic Search

BACKGROUND: The syndrome of the sinking skin flap (SSSF) with delayed sensorimotor deficits after craniectomy is not well known and often neglected. Among various postulated causes, there is evidence that disturbed brain perfusion may be related to the observed symptoms, and that cranioplasty reliably alleviates these symptoms. We report a case of sinking skin flap syndrome (SSFS) with recovery from

Andre Kemmling; Thomas Duning; Lars Lemcke; Thomas Niederstadt; Jens Minnerup; Heike Wersching; Martin Marziniak

2010-01-01

332

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

Microsoft Academic Search

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

NEIL SMITH; BEATE HERMELIN; IANTHI TSIMPLI

333

Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature  

PubMed Central

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable phenotypic expression. It presents with characteristic facial appearance enabling it to be easily recognizable. A case of a 10-year-old girl having TCS is briefly described in this article. A review of the etiology, clinical features, differential diagnosis, and treatment options are also discussed.

Renju, Raj; Varma, Balagopal R.; Kumar, Suresh J.; Kumaran, Parvathy

2014-01-01

334

Correction of severe sleep apnea in a case of Treacher-Collins syndrome  

Microsoft Academic Search

Among many manifestations of Treacher Collins syndrome, obstructive sleep apnea is of particular significance because it may sometimes lead to life-threatening complications. A case of Treacher Collins syndrome accompanied by severe sleep apnea is presented. Horizontal and segmental osteotomies of the mandible were effective in treatment of the sleep apnea.

K. Ueda; S. Tajima; Y. Tanaka; K. Imai; S. Byun; M. Byun

1996-01-01

335

Salvage surgery of the limb with severe pseudoamniotic band syndrome: case report and literature review.  

PubMed

Pseudoamniotic band syndrome is a rare iatrogenic complication of twin-to-twin transfusion syndrome treated with foetoscopic procedures. We report a severe pseudoamniotic band syndrome in the recipient monochorionic diamniotic twin pregnancy with twin-to-twin transfusion syndrome following a selective foeticide procedure. A male newborn with a severe circumferential amniotic band in the left leg was treated by single-stage excision of the ring and arterio-venous decompression. No complications were encountered. A microsurgical approach to improve the circulation together with ring excision may be useful in some cases. PMID:24777463

Çölo?lu, H; Özkan, B; Çölo?lu, Ö; Yalç?nkaya, C; Uysal, A Ç; Borman, H

2014-04-01

336

An analysis of the flexor synovium in idiopathic carpal tunnel syndrome: report of 625 cases.  

PubMed

This study was undertaken to determine the presence or absence of tenosynovitis in persons with idiopathic carpal tunnel syndrome. Eight hundred thirty-five consecutive operations for carpal tunnel syndrome were retrospectively reviewed, and 625 cases of idiopathic carpal tunnel syndrome were identified. Of these 96% (601) had a synovial tissue histologic diagnosis of benign fibrous tissue without inflammation, 4% (23) showed chronic inflammation, and 0.2% (1) revealed evidence of acute inflammation. We believe that tenosynovitis is not a part of the pathophysiologic process in chronic idiopathic carpal tunnel syndrome. Further histologic analysis of the flexor synovium for pathologic changes other than inflammation is needed. PMID:1430930

Kerr, C D; Sybert, D R; Albarracin, N S

1992-11-01

337

A case of pituitary adrenocorticotropin-dependent Cushing's syndrome in the horse.  

PubMed

In the horse, a syndrome of hirsutism, hyperglycemia, glucosuria, polydipsia, polyuria, polyphagia, and progressive debilitation has been recognized. Most often the syndrome has been associated with adenomas of the pars intermedia of the pituitary and bilateral adrenal hyperplasia or nodular hyperplasia involving primarily the zona fasciculata. Previously, the syndrome has been ascribed to compression of the hypothalamus by an expanding but functionally inactive pituitary neoplasm. In the present case, with RIA determination of plasma ACTH concentrations, the syndrome was ascribed to pituitary ACTH-dependent hyperadrenocorticism and likened to human Cushing's disease. PMID:220013

Moore, J N; Steiss, J; Nicholson, W E; Orth, D N

1979-03-01

338

Behavioral aspects of Angelman syndrome: a case control study.  

PubMed

Angelman syndrome (AS) is a rare congenital disorder characterized by impairments in intellectual, neurological and motor functioning and a postulated behavioral profile. This study compared behavioral characteristics of 62 individuals with genetically confirmed AS and 29 individuals with presumed AS from clinical features, with a control group of young persons with intellectual disability (ID) derived from an Australian epidemiological register. Twelve behavioral items from the developmental behavior checklist (DBC) were used for this comparison. The groups were matched for chronological age, gender, and level of ID. In the AS group, significant differences were found for 10 behaviors, with poor attention span and impulsivity being less common, and overactivity/restlessness, chewing or mouthing objects, eating non-food items, gorging food, food fads, fascination for water, hand flapping and sleep disturbance being more common. Interestingly, there was no difference in prevalence of unprovoked laughter. Comparison of the results of the genetically confirmed with the genetically unconfirmed AS cases showed no significant differences between individual behavior prevalence. These findings show that a "behavioral phenotype" of AS can be distinguished from others of similar level of ID, but it is different from that hitherto published. Abnormal food related behaviors, hyperactivity, fascination for water, hand flapping, and sleep disturbance should be included in a "behavioral phenotype" for AS. Apart from hyperactivity, "ADHD-type" behaviors are not more characteristic of AS than in ID generally. Therefore, the Consensus Criteria for the diagnosis of AS need to be reviewed. PMID:15578589

Barry, Raymond J; Berry, Raymond J; Leitner, Robert P; Clarke, Adam R; Einfeld, Stuart L

2005-01-01

339

Cervical carcinoma following myelodysplastic syndrome: A case report  

PubMed Central

Solid tumors following myelodysplastic syndrome (MDS) are rare and have no uniform treatment guidelines. The current study presents a rare case of a 47-year-old female diagnosed with cervical cancer (International Federation of Gynecology and Obstetrics stage IIIB) with an eight-year history of MDS. A multidisciplinary treatment discussion was organized and a rigorous treatment plan was developed. With injection of granulocyte colony-stimulating factor and interleukin-11 factor, transfusion of red blood cell suspension and close monitoring of the blood count, the patient was administered radiotherapy, specifically intensity modulated radiation therapy. However, a degree IV bone marrow suppression repeatedly assaulted, leading to interruption of the radiotherapy treatment. Eventually, the total dose received by point A (2 cm above the cervical os marker and 2 cm perpendicular to the uterine axis along the plane of the uterus) was 51 Gy. One month later, a gynecological examination and magnetic resonance imaging of the pelvis revealed that the treatment resulted in a complete remission. In conclusion, radiation therapy can still be implemented to obtain satisfactory local control when the hematopoietic function of the bone marrow is weakened due to long-term MDS. PMID:24959223

MENG, DU; CHAI, YAN-LAN; HE, YIN-FANG; HU, HONGLIAN; LIU, RUI; LIU, ZI

2014-01-01

340

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

PubMed

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

Kobayashi, M; Ito, M; Hotchi, M

2000-01-01

341

Delayed retroperitoneal bleeding causing acute abdominal compartment syndrome: case report.  

PubMed

Delayed acute abdominal compartment syndrome (ACS) due to retroperitoneal bleeding is rare. Herein, we report the clinical management of such a rare case. A 46-year-old male who fell from a height of 12 meters was admitted to Al-Ain Hospital. He was hemodynamically stable. His abdomen was soft and not distended. Abdominal computed tomography (CT) was normal on admission. On day 7, the patient tolerated enteral feeding. On day 15, he became suddenly hypotensive. CT of the abdomen showed a large retroperitoneal hematoma compressing the inferior vena cava (IVC) associated with contrast blush indicating active bleeding. The abdomen became distended and tense. The patient developed respiratory failure and severe acidosis, increased airway pressure and reduced urine output. A clinical diagnosis of ACS was made. There was dramatic improvement in the hemodynamic and respiratory function directly after laparotomy. Exploration of the retroperitoneal hematoma showed an actively bleeding ligated ileocolic vessel. The abdomen was temporarily closed using saline IV bags sandwiched between two layers of Steri-Drape. The abdomen was closed primarily on day 6. The patient was discharged home on day 50. Life-threatening delayed retroperitoneal bleeding may occur suddenly two weeks after trauma causing ACS. PMID:21644100

Abu-Zidan, Fikri M; Jawas, Ali; Boraie, Mustafa; Ahmed, Misbah U

2011-03-01

342

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

ERIC Educational Resources Information Center

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

Gillberg, Christopher

1985-01-01

343

Metabolic syndrome in ischemic stroke: A case control study  

PubMed Central

Introduction: The metabolic syndrome has known as an independent risk factor of stroke. The occurrence of this syndrome is due to genetic factors and lifestyle. This study was performed on the frequency of metabolic syndrome prevalence in ischemic stroke patients compare to control. Materials and Methods: one hundred ischemic stroke patients and 100 controls (with the same age and sex) were evaluated for this study. Result: 62% of patient and 34% of controls had metabolic syndrome criteria according to National Cholesterol Education Program (NCEP) {OR: 3.2; 95% CI (1.9–9.7), P=0.001} Prevalence of metabolic syndrome in women was more than men (52% vs. 44%) {OR: 0.72; 95% CI (0.4, 1.3)}. Beside of metabolic syndrome, prevalence of metabolic syndrome components was significantly higher in stroke patients compare to controls. Conclusion: metabolic syndrome prevalence are more common in stroke patients compare to controls, but it should be noticed that the controls are in a risk of future stroke so they need special treatment to prevent it. PMID:23264792

Ashtari, Fereshteh; Salari, Mehri; Aminoroaya, Ashraf; Deljoo, Behnaz Khademi; Moeini, Mina

2012-01-01

344

Papillon- Lefèvre Syndrome: Report of a case and its management.  

PubMed

Papillon-Lefèvre Syndrome (PLS) is a rare autosomal recessive disorder first described by two French physicians, Papillon and Lefèvre in 1924. The disorder is characterized by diffuse palmoplantar keratoderma and precocious aggressively progressing periodontitis, leading to the premature loss of deciduous and permanent teeth at a very young age. The cutaneous lesions are usually manifested simultaneously with the intra-oral presentations and include keratotic plaques on the palms and soles varying from mild psoriasiform scaly skin to overt hyperkeratosis. The etiopathogenesis of the syndrome is relatively obscure and immunologic, genetic or possible bacterial etiologies have been proposed. Due to the vast degree of periodontal breakdown involved at such an early age, the dental surgeon is often the first to diagnose the syndrome. This paper presents a clinical presentation a 15 year old male diagnosed with Papillon- Lefèvre Syndrome. Key words:Papillon-Lefèvre Syndrome, palmoplantar keratoderma, rapidly progressing periodontitis. PMID:24558530

Sachdeva, Shabina; Kalra, Namita; Kapoor, Pranav

2012-02-01

345

Confusional State in HaNDL Syndrome: Case Report and Literature Review  

PubMed Central

The syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis (HaNDL syndrome) is a self-limited condition. Confusional states are uncommonly reported as a clinical manifestation of this syndrome. Here, I report a 76-year-old female who presented with headache, confusion, and agitation with a mild CSF lymphocytosis. Other workup to determine the cause of her altered mental status was otherwise negative. The literature available in the English language on HaNDL syndrome is reviewed, including its history, pathophysiology, possible associations with migraine and stroke, and previously reported cases of confusional states in this syndrome. While HaNDL syndrome has been a described entity since the 1980s, its pathophysiology has yet to be clearly defined. PMID:23991343

Nelson, Sarah

2013-01-01

346

Hypercalcemia and Alkalosis Due to the Milk-Alkali Syndrome: A Case Report and Review  

E-print Network

At one time, when antacids were the primary medical means of treating peptic ulcer disease, the milk-alkali syndrome was not an uncommon cause of hypercalcemia. The simultaneous occurence of hypercalcemia, alkalosis, and renal failure, in conjunction with the appropriate history of ingestion fof antacids, was suggestive of the syndrome. With the advent of antisecretory therapy, however, the milk-alkali syndrome has become an uncommon diagnosis. I report a case of milk-alkali syndrome and review the hisory of this syndrome as reported in the medical literature. Contemporary reports have focused on understanding the pathophysiology of the syndrome. Recent series have indentified a shifting demographic profile, as increasing numbers of elderly women consume calcium carbonate as an anti-osteoporosis measure.

Anthony S. Fiorinoa

1996-01-01

347

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

PubMed

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

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

2014-06-01

348

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

Microsoft Academic Search

INTRODUCTION: Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. CASE PRESENTATION: We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and hyperaldosteronism. The patient's evolution

Cristina Maria Mihai; Doina Catrinoiu; Marius Toringhibel; Ramona Mihaela Stoicescu; Anca Hancu

2009-01-01

349

Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report  

PubMed Central

Introduction Thrombocytopenia with absent radii is a rare congenital defect with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia that may have additional anomalies. We report the case of a girl baby with thrombocytopenia and absent radii syndrome and bilateral congenital cataract. This anomaly has not been previously reported in the children of a non- consanguineous marriage. Case presentation This case report describes a two-day-old girl baby of Arab origin with thrombocytopenia and absent radii syndrome and bilateral congenital cataract. Conclusions This report describes a finding of bilateral congenital cataract associated with thrombocytopenia and absent radii syndrome that has been reported only once before in the literature. This case report highlights a new ocular manifestation in one of the bone marrow failure syndromes. PMID:22742195

2012-01-01

350

Brainstem auditory evoked potentials in a case of 'Manto syndrome', or spasmodic torticollis with thoracic outlet syndrome.  

PubMed

A case of spasmodic torticollis with thoracic outlet syndrome observed for over 18 months is presented and discussed. Maximal head rotation (determining backward gaze) was associated with compression of the brachial plexus between the scaleni muscles and motor, sensory and trophic troubles in the hand. This new syndrome is called after the diviner Manto, quoted by Dante Alighieri in his 'Divina Commedia' (Inferno, XX, 52-56). The etiology was ascribed to subacute toxic effects of methylparathion. Brainstem Auditory Evoked Potentials (BAEPs) demonstrated severe brainstem involvement, maximal in the mesencephalic structures. Clinical and neurophysiological data improved on treatment with L-5-hydroxytryptophan. Finally, BAEPs returned to normal. PMID:6984700

Disertori, B; Ducati, A; Piazza, M; Pavani, M

1982-12-01

351

Crossing the other side of the algorithm: a challenging case of adrenal Cushing's syndrome  

PubMed Central

The diagnosis of endogenous Cushing’s syndrome and its aetiology involved documenting the hypercotisolism and then determining whether that hypercortisolism is adrenocorticotropic hormone-dependent (ACTH-dependent) or not. Hence, following the algorithm, an undetected ACTH level points to an adrenal Cushing’s while a detectable or elevated ACTH level points to either a pituitary or ectopic Cushing’s syndrome. The authors present a case of florid adrenal Cushing’s syndrome initially presenting with a normal ACTH level, which led to the investigation for an ACTH-secreting tumour. Adding to the confusion, a MRI done showed an intrasellar focus. Knowledge of how ACTH-dependent (versus ACTH-independent) Cushing’s syndrome manifests clinically, supported by results of repeat laboratory tests, led to the true diagnosis. This case illustrates that a detectable ACTH does not rule out an adrenal Cushing’s syndrome nor does a positive pituitary imaging confirm Cushing’s disease. PMID:22674941

Antonio, Imelda Digna Soberano; Sandoval, Mark Anthony Santiago; Lantion-Ang, Frances Lina

2011-01-01

352

A case of late-onset allgrove syndrome presenting with predominant autonomic dysfunction  

PubMed Central

Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of spontaneous morning erections for six months. He was having nocturnal diarrhea and recurrent postural dizziness for three months. He was found to have hyperpigmentation at pressure points, postural hypotension and other features of autonomic dysfunction. Laboratory investigations and imaging studies revealed hypoadrenalism, achalasia, alacrima and peripheral neuropathy. Autonomic neuropathy-related features persisted even after correction of hypoadrenalism. Based on clinical features and investigation he was diagnosed as a case of 4A syndrome presenting with autonomic dysfunction. Allgrove or 4A syndrome should be considered as a rare differential diagnosis of someone presenting with features of autonomic neuropathy. PMID:23956580

Sanyal, Debmalya; Bhattacharjee, Shakya

2013-01-01

353

Rett syndrome with colon cancer presented with sigmoid volvulus: Report of a case  

PubMed Central

INTRODUCTION Rett syndrome is a progressive neurodevelopment disorder in which MECP gene mutations are responsible and might be related to cancer. PRESENTATION OF CASE A 22 year-old girl with Rett syndrome was hospitalized for abdominal distention and shock. Abdominal tenderness and distention were revealed in physical examination. Radiological investigations revealed sigmoid volvulus and colonic obstruction. Sigmoid volvulus, sigmoid colon perforation due to sigmoid cancer with liver metastasis were observed at laparotomy. Hartman procedure performed. The patient died on the second postoperative day. DISCUSSION Rett syndrome has several gastrointestinal pathologies related with inadequate parasympathetic control. Genetic mutations in methyl-CpG-binding protein 2 (MECP2) which has role in several cancer mechanisms is the reason of Rett syndrome. Colon cancer with the underlying gastrointestinal pathologies complicated our case. CONCLUSION Rett syndrome patients need a high level of concern for gastrointestinal emergencies with cancer risk. PMID:25108072

Yilmaz, Tonguc Utku; Gunes, Abdullah; Posteki, Gokhan; Okay, Erdem

2014-01-01

354

Ellis-van Creveld syndrome in an Indian child: a case report  

PubMed Central

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

Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth

2011-01-01

355

Proteus syndrome: report of a case with developmental glaucoma.  

PubMed

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

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

2014-06-01

356

Hashimoto's thyroiditis associated Evans syndrome: A rare case report on the clustered autoimmune disease triad  

PubMed Central

Evans syndrome is a rare combination of autoimmune hemolytic anemia and immune thrombocytopenia. Their association with autoimmune thyroid diseases has been reported by few authors; however, a sequential development of the Evans syndrome in cases of Hashimoto's thyroiditis is extremely rare. The clustering of these autoimmune diseases might share a common pathogenic pathway. We present the fourth such case in world literature, of a 34-year-old female diagnosed with Hashimoto's thyroiditis in 2006, who has been taking synthetic thyroid hormone since then. Her condition is now clinically complicated with the development of the Evans syndrome. PMID:23961497

Koti, Kalyan; Thumma, Rayapa Reddy; Nagarajan, Swathanthra; Mathi, Atchyuta

2013-01-01

357

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

PubMed

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

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

2014-04-01

358

Definition of a non-alert downer cow syndrome and some case histories.  

PubMed

The clinical, blood biochemical and autopsy findings on a cow affected by a 'non-alert downer cow syndrome' are described in detail and compared with brief clinical and biochemical details from six similar cases attended elsewhere. The significance of the biochemical observations is discussed in relation to the observations from many other clinical milk fever cases in a dairy practice in Victoria. This syndrome developed in 1.9 per cent of 584 cases of milk fever. The essential findings in the syndrome were that all cows had an initial clinical episode suggestive of milk fever but showed an unsatisfactory clinical response to calcium borogluconate therapy. After a day or two all cows became laterally recumbent, some exhibited expiratory moaning and all developed mucoid faeces which, in many cases contained spots of blood. All cases had significantly lower erythrocyte and plasma potassium concentrations than those in milk fever cases which responded to treatment. PMID:3962113

Fenwick, D C; Kelly, W R; Daniel, R C

1986-02-01

359

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

PubMed Central

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

2013-01-01

360

The Cri-Du-Chat Syndrome: A Case Study.  

ERIC Educational Resources Information Center

The developmental history of a 14-year-old girl with Cri-Du-Chat Syndrome (a genetic disorder characterized by a distinctive cry and severe physical and intellectual disabilities) is reported. (Author/DB)

Sykes, Stewart C.; Christie, Margarette A.

1987-01-01

361

A case of caudal regression syndrome: walking or sitting?  

PubMed Central

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

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

2014-01-01

362

Successful treatment of SAPHO syndrome with adalimumab: a case report  

Microsoft Academic Search

SAPHO syndrome is a disorder involving the skin, bone and joints. The underlying causes of SAPHO are poorly understood, and\\u000a treatment is, therefore, directed towards the individual symptoms. However, many patients are refractory to treatment, and\\u000a new treatment options are needed. Herein, we describe a 28-year-old patient with SAPHO syndrome and palmoplantar pustulosis\\u000a seen at our hospital. Treatment was initiated

Ivan Castellví; Maria Bonet; Jose A. Narváez; Jose C. Molina-Hinojosa

2010-01-01

363

Sonozaki syndrome: case report and review of literature  

Microsoft Academic Search

Sonozaki syndrome—pustulotic arthro-osteitis (PAO) is a relatively rare, chronic illness. This disease belongs to the group\\u000a of psoriatic arthritis (psoriasis arthropatica, artropatia psoriatica) which in turn belongs to the group of seronegative\\u000a arthritis. Sonozaki syndrome includes palmoplantar pustulosis, PPP as well as arthro-osteitis. Clinically, symmetrically localised\\u000a pustulae are observed on feet and hands. Effected joints are painful, swollen with a

Beata Bergler-Czop; Anna Lis-?wi?ty

364

Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases  

Microsoft Academic Search

An in depth study on growth, bone age, cranial CT scans and plasma somatomedin activity (SM-act) was made of 22 children with Sotos syndrome. In addition to the known characteristics of the syndrome, thin and brittle nails were found in three adolescent patients. The mean body stature, expressed as standard deviation score, increased from 2.2–2.8 in the 1st year of

J. M. Wit; F. A. Beemer; P. G. Barth; J. W. E. Oorthuys; P. F. Dijkstra; J. L. Van den Brande; N. J. Leschot

1985-01-01

365

Successful early surgical treatment in neonatal compartment syndrome: case report.  

PubMed

Neonatal compartment syndrome is rare, and the diagnosis is often missed or delayed because other ischemic diseases can mimic clinical signs observed on the skin. A premature newborn infant presented with skin lesions during the first hours of life that were recognized as the sentinel finding in compartment syndrome of the newborn. We restored normal function by emergency surgery. The authors highlight the importance of effective collaboration between pediatricians and surgeons to improve the management of this neonatal condition. PMID:23664365

Plancq, M C; Buisson, P; Deroussen, F; Krim, G; Collet, L M; Gouron, R

2013-06-01

366

Early orthodontic management of Crouzon Syndrome: a case report  

Microsoft Academic Search

Crouzon Syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French\\u000a neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the fibroblast growth factor\\u000a receptor 2 (FGFR2) gene. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins\\u000a in the first year of

P. Hlongwa

2009-01-01

367

A newborn with Cornelia de Lange syndrome: a case report  

Microsoft Academic Search

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early

Hakan Uzun; Dursun Senses; Munevver Uluba; Kenan Kocabay

2008-01-01

368

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report  

PubMed Central

Introduction Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds. Case presentation We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome. Conclusion Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments. PMID:21272302

2011-01-01

369

Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report  

PubMed Central

Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management. PMID:22620685

2012-01-01

370

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

PubMed Central

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

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

2014-01-01

371

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

PubMed Central

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

2014-01-01

372

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.  

PubMed

Hydrometrocolpos and polydactyly diagnosed in the prenatal period or early childhood may raise diagnostic dilemmas especially in distinguishing McKusick-Kaufman syndrome (MKKS) and the Bardet-Biedl syndrome (BBS). These two conditions can initially overlap. With time, the additional features of BBS appearing in childhood, such as retinitis pigmentosa, obesity, learning disabilities and progressive renal dysfunction allow clear differentiation between BBS and MKKS. Genotype overlap also exists, as mutations in the MKKS-BBS6 gene are found in both syndromes. We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling. PMID:21044901

Schaefer, Elise; Durand, Myriam; Stoetzel, Corinne; Doray, Bérénice; Viville, Brigitte; Hellé, Sophie; Danse, Jean-Marc; Hamel, Christian; Bitoun, Pierre; Goldenberg, Alice; Finck, Sonia; Faivre, Laurence; Sigaudy, Sabine; Holder, Muriel; Vincent, Marie-Claire; Marion, Vincent; Bonneau, Dominique; Verloes, Alain; Nisand, Israël; Mandel, Jean-Louis; Dollfus, Hélène

2011-01-01

373

[Two cases with dropped head syndrome caused by hypokalemic myopathy].  

PubMed

We reported two women (78 and 85 years of age) with dropped head syndrome caused by hypokalemic myopathy restricted to the posterior cervical muscles. Both presented with relatively rapid onset of severe neck extensor weakness. Needle EMG demonstrated myogenic changes in the cervical paraspinal muscles and there were high intensity signals in the posterior cervical muscles on the neck MRI. Dropped head syndrome resolved in both patients as potassium normalized. One of the patients relapsed 11 months later with recurrent hypokalemia, but recovered rapidly with supplementation of potassium. Focal myopathy localized in the posterior cervical muscles due to hypokalemia should be considered as one of the possible causes of dropped head syndrome. PMID:21404610

Taniguchi, Koichiro; Okino, Iwao; Yamamoto, Nobuaki; Matsumoto, Shinichi; Tachibana, Naoko; Hamano, Toshiaki

2011-02-01

374

The pseudoborderline syndrome. A proposal based on case studies.  

PubMed

The term pseudoborderline syndrome refers to a form of atypical, masked depression with the symptomatology of borderline personality disorder. In contrast to what have been previously described as "subaffective disorders," the condition presented here develops later in life, after a premorbid history of high social function and after long-lasting stresses or multiple losses before onset. Long-term course is that of an affective disorder, sometimes ending in suicide if not treated. It is also suggested that these patients undergo a process of regression under the influence of a chronic exposure to stress. The condition was initially observed among Eastern European immigrant patients but may also occur among individuals in high-stress jobs. The name "pseudoborderline syndrome" is proposed and it is speculated that masked affective disorders may appear in the form of "pseudo-syndromes"--pseudodementia, pseudomania, pseudohypochondriasis, pseudoborderline. PMID:3944598

Novac, A

1986-02-01

375

A case of Lynch syndrome with advanced jejunal cancer.  

PubMed

A woman in her 80s had two episodes of ileus, which led to the diagnosis of advanced jejunal cancer. She was diagnosed with Lynch syndrome when she was in her 60s, for which she underwent annual follow-up with computed tomography for 8 years. Unfortunately, she died from the recurrence of jejunal cancer and liver metastases. Jejunal cancer is relatively rare in Lynch syndrome, and no surveillance strategy has been established for small bowel cancer. In patients with unexplained abdominal complaints, small bowel cancer should be considered. PMID:25373375

Nagao, Tomoko; Koizumi, Koichi; Tabata, Taku; Kuwata, Go; Horiguchi, Shinichiro; Hishima, Tsunekazu; Arai, Masami

2014-11-01

376

MSX1 Mutation in Witkop Syndrome; A Case Report  

PubMed Central

The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in the proband. The parents of the patient had no dental and nail anomalies. PMID:24031111

Ghaderi, Faezeh; Hekmat, Somaye; Ghaderi, Reza; Fardaei, Majid

2013-01-01

377

A case of ocular hypertension complicated by SUNCT syndrome.  

PubMed

We report a 53-year-old woman with laser iridotomy (LI)-resistant angle-closure and conjunctival injection, which was thought to be the cause of ciliochoroidal effusion associated with short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT) syndrome. LI had no effect on any of the symptoms except for intraocular pressure. The symptoms disappeared after a subsequent procedure for SUNCT syndrome. MRI of the left eye showed ciliochoroidal effusion at paroxysm and was normalized upon relief. PMID:21138147

Murakami, Junko; Kim, Akio; Sugiyama, Takeshi; Inoue, Keiji; Matsumoto, Chota; Shimomura, Yoshikazu

2010-01-01

378

Sweet's syndrome with pulmonary involvement: Case report and literature review?  

PubMed Central

A 74 year old female presented with fever, associated with papules and plaque in her upper and lower extremities. Exams revealed blood leukocytosis and a positive urine culture. Antibiotic therapy was initiated with no clinical response. After 1 week, chest X-ray showed right upper lobe alveolar infiltrate. A skin biopsy of the lesion showed infiltration by neutrophils, consistent with Sweet's Syndrome. Patient's condition progressively worsened, requiring oxygentherapy. Bronchoscopy and bronchoalveolar lavage were normal, transbronchial biopsies suggested lung involvement of Sweet 's syndrome. Antibiotic therapy was stopped. Corticosteroid were started. Therapy resulted in rapid clinical and radiological improvement.

Fernandez-Bussy, S.; Labarca, G.; Cabello, F.; Cabello, H.; Folch, E.; Majid, A.

2012-01-01

379

Sodium fusidate in Guillain-Barr? syndrome: a case report  

PubMed Central

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

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

1998-01-01

380

[Posterior reversible encephalopathy syndrome: 5 chemotherapy related cases].  

PubMed

Posterior reversible encephalopathy syndrome, previously known as Reversible posterior leukoencephalopathy syndrome, is a clinical-radiological condition characterized by headache, altered mental functioning, seizures and visual alterations, with the magnetic resonance imaging showing cerebral edema, predominantly in the white matter with posterior distribution. Multiple clinical conditions can act as triggers. We present five oncology patients, four of them with acute lymphoblastic leukemia, receiving chemotherapy when they presented with this pathology. A prompt diagnosis, an appropriate therapy for hypertension, and a rapid control of the seizures are the keys to avoiding sequelae. PMID:23786801

San Martín García, I; Urabayen Alberdi, R; Díez Bayona, V; Sagaseta de Ilúrdoz Uranga, M; Esparza Estaun, J; Molina Garicano, J; Berisa Prado, S

2014-02-01

381

SAPHO Syndrome Diagnosis and Treatment: Report of Five Cases and Review of the Literature  

PubMed Central

Background: The term “SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) syndrome” includes a variety of musculoskeletal disorders associated with skin conditions; Osteitis is the most prominent skeletal lesion, whereas palmoplantar pustulosis and acne are the main skin lesions. Diagnosing SAPHO syndrome is difficult, because this syndrome is often confused with suppurative osteomyelitis, which has similar clinical and pathologic findings. SAPHO diagnosis is even more difficult when atypical sites are involved and there are no skin lesions. Patients and Methods: This case series presents five patients (3 women, 2 men), ages 27 to 44 years, who came to the Orthopaedic Department outpatient clinic for evaluation of pain in the humerus, clavicle, sacroiliac joints, and/or distal radius, and were diagnosed with SAPHO syndrome. Clinical and radiologic findings, treatment and outcome data, with up to 4 years of follow-up are presented. An extensive discussion of the clinical presentation, published literature, treatment options and outcome of SAPHO syndrome is also included. Results: Once the diagnosis of SAPHO syndrome was established, treatment with antibiotics (clindamycin) and non steroid anti-inflammatory drugs (lornoxicam) was remarkably effective. All patients did well and remained symptom free for up to four years, after a 3-8 month course of treatment. Interpretation: SAPHO syndrome should be included in the differential diagnosis when evaluating patients with lytic, sclerotic, or hyperostotic bone lesions and pain. Prompt SAPHO syndrome recognition, followed by appropriate therapy with antibiotics and NSAIDs can produce rapid symptom resolution, while avoiding unnecessary procedures and longterm antibiotic therapy. PMID:19997538

Matzaroglou, Ch; Velissaris, D; Karageorgos, A; Marangos, M; Panagiotopoulos, E; Karanikolas, M

2009-01-01

382

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

PubMed Central

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

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

2014-01-01

383

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

PubMed

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

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

2012-01-01

384

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

PubMed

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

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

2013-01-01

385

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

PubMed Central

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

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

2013-01-01

386

Yunis-Varón syndrome: the first report of two Iranian cases.  

PubMed

The Yunis-Varón syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles (cleidocranial dysplasia), absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, growth retardation and poor outcome. The molecular genetic basis is unknown. Here, we report an 8 months old girl with Yunis-Varón syndrome, born to a consanguineously married, with normal parents. She had micrognathia, wide fontanels, prominent eyes, poor sucking, congenital heart diseases, asymmetric face, ambiguous genitalia, reduction anomaly in right hand including thumb, and hypoplastic distal phalanges of 3th fingers, and hypo plastic clavicles. She has glaucoma and lenses opacity. There is another similar case in her family. Karyotype is normal. She is the first Iranian known case of Yunis-Varón syndrome. PMID:24658994

Hadipour, Zahra; Shafeghati, Yousef; Hadipour, Fatemeh

2014-01-01

387

Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report.  

PubMed

We report a case of the Antley-Bixler syndrome in an 11-year-old girl. She presented with bilateral proximal femoral focal deficiency, right clubfoot, left radiohumeral synostosis, bilateral ear hypoplasia, cleft palate, tongue tie, missing teeth, congenital heart disease, a pelvic kidney with hydronephrosis, and mental retardation. Proximal femoral focal deficiency has never been reported before as a manifestation of Antley-Bixler syndrome. Her mother was exposed to radiation during an intravenous urogram done in the first trimester of pregnancy. Exposure to radiation has not been implicated as a cause of Antley-Bixler syndrome. PMID:17429125

Sulaiman, A R; Nawaz, H; Munajat, I; Sallehudin, A Y

2007-04-01

388

Prosthodontic management of a patient with Gardner's syndrome: A clinical case report  

PubMed Central

Gardner's syndrome is a genetic condition demonstrating an autosomal dominant trait and characterized by the multiple colonic polyps (familial adenomatous polyposis coli) with sebaceous cysts and jaw osteomas. Various dental abnormalities present in patient's suffering with this syndrome includes multiple impacted or unerupted teeth, supernumerary teeth, hypodontia, compound odontomes and dentigerous cyst. In this case report, a patient with Gardner's syndrome who suffered from functional and psychological problems owing to multiple impacted, unerupted teeth and hypodontia was presented. Patient was treated with a maxillary conventional overdenture opposing mandibular custom bar supported overdentures. PMID:24932202

Singh, Kunwarjeet; Singh, Abhishek; Kumar, Prince; Gupta, Nidhi

2014-01-01

389

[Hoarding as the core symptom of the Diogenes Syndrome. A case study].  

PubMed

The subject of this case study is a 69-year-old woman with the Diogenes syndrome. Hoarding, the major symptom of this syndrome, has been investigated more thoroughly in the literature than the syndrome itself. However, so far no consensus has been reached about the pathogenesis. Selective serotonin reuptake inhibitors or antipsychotics can be useful as treatment, depending on the underlying aetiology. Non-pharmacological forms of treatment such as behavioural and environmental interventions may also be required. The limited information about the prognosis is not encouraging. PMID:17370226

Koeck, A; Bouckaert, F; Peuskens, J

2007-01-01

390

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

PubMed

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

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

2013-10-01

391

The clinical features and their impact on the prosthodontic management in a case of Gardner's syndrome.  

PubMed

Gardner's syndrome is a variant of Familial Adenomatous Polyposis (FAP), a condition that manifests as hundreds of colorectal polyps likely to undergo malignant change by the fourth decade. Early diagnosis of this condition has the potential to be life saving for individuals and due to its inherited nature other family members can often also be affected. Additional features of Gardner's Syndrome include multiple jaw osteomas with missing teeth that can make prosthodontic treatment a challenge. This case report highlights the presenting features and the prosthodontic problems faced when treating a patient with Gardner's syndrome. PMID:24922993

Cunliffe, S; Milosevic, A

2014-03-01

392

Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature.  

PubMed

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, recurrent pyogenic infections (skin, mucosa and respiratory system), and neurologic deficit. The hallmark of this syndrome is the presence of abnormal intracytoplasmic giant granules in all granule containing cells including leukocytes in blood and bone marrow. A majority (85 %) of patients with CHS develop an accelerated phase consisting of a lymphoproliferative syndrome with hemophagocytosis and infiltration of most tissues. This phase is characterized by fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia and neurological abnormalities. In this paper, we report a case of CHS presented as accelerated phase in a 9-month-old girl child. PMID:25332584

Bouatay, Amina; Hizem, Sondes; Tej, Amel; Moatamri, Wided; Boughamoura, Lamia; Kortas, Mondher

2014-09-01

393

Down syndrome with microgranular variant of acute promyelocytic leukemia in a child: a case report  

PubMed Central

Background Acute promyelocytic leukemia (APL) accounts for less than 10% of pediatric AML. Cases of APL in Down syndrome (DS) have been described in the literature rarely and it is rarer still to find the microgranular variant (M3v) of APL in trisomy 21 patients. Case presentation We present a case of a five-year-old female with Down syndrome diagnosed with acute promyelocytic leukemia (APL). She came to our hospital with bleeding manifestations. Blood and bone marrow examination revealed promyelocytes showing a few fine granules and occasional Auer rods. Based on this morphology and cytochemistry, a diagnosis of APL microgranular variant (M3v) was made. Conclusion This case report emphasizes the importance of a high index of suspicion in the diagnosis of acute promyelocytic leukemia microgranular variant in Down syndrome. PMID:18036234

Jain, Deepali; Singh, Tejinder; Arora, Prerna

2007-01-01

394

Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report.  

PubMed

Meckel-Gruber syndrome (MKS) is a fatal, autosomal recessive disorder characterized by malformation of central nervous system, particularly occipital encephalocele, bilateral renal dysplasia, and polydactyly. However, the clinical findings of this syndrome encompass various organ abnormalities as a result of genetic heterogeneity. The associated heart anomaly in MKS is inconstant. Its prevalence is rare and no striking or specific cardiac defects have been documented. We present a case of MKS with combined cor triatriatum sinistrum (left atrium divided into upper and lower compartment by a thin membrane) and hypoplastic left heart syndrome (underdeveloped mitral valve, left ventricle, and aorta) in a 33-week male fetus that was ultrasonographically detected and confirmed by autopsy. In addition to the cardiac defects, the patient was found to have postaxial polydactyly of 4 extremities, Dandy-Walker malformation, bilateral renal cystic dysplasia, and hepatic plate malformation. To the best of our knowledge, this is the first time that a combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in MKS has been reported in the literature. PMID:19358626

Taweevisit, Mana; Treetipsatit, Jitsupa; Tantbirojn, Patou; Thorner, Paul Scott

2009-01-01

395

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

Microsoft Academic Search

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

Hazel Brooke; Angus Gibson; David Tappin; Helen Brown

1997-01-01

396

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

PubMed Central

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

Flamini, Stefano; Persi, Emanuele; Calvisi, Vittorio

2008-01-01

397

Popliteal entrapment syndrome. A systematic review of the literature and case presentation  

PubMed Central

Summary Popliteal artery entrapment syndrome (PAES) is rare in young adults. Claudication of the young patient, which is often overlooked, is a very rare symptom for orthopedic surgeons. In elder patients, the physician might expect atherosclerotic claudication, however in young patients, popliteal artery entrapment syndrome (PAES) should be considered as a possibility in the cases of claudication. Here, an unusual presentation of an uncommon disease that is not widely known by orthopedic surgeons is reported. PMID:25332925

Gokkus, Kemal; Sagtas, Ergin; Bakalim, Tamer; Taskaya, Ertugrul; Aydin, Ahmet Turan

2014-01-01

398

Milk alkali syndrome associated with excessive ingestion of Rennie: case reports.  

PubMed

Milk alkali syndrome is a cause of hypercalcaemia, renal failure and alkalosis, and is potentially reversible if detected early and the calcium and alkali source withdrawn. It was originally described in patients ingesting large amounts of calcium containing milk for the treatment of peptic ulcer disease. We present a modern day version of the syndrome in three cases which were associated with excessive intake of Rennie, a calcium carbonate containing antacid. PMID:18498570

Irtiza-Ali, Ayesha; Waldek, Stephen; Lamerton, Elizabeth; Pennell, Ashley; Kalra, Philip A

2008-06-01

399

Exogenous Cushing’s syndrome due to topical corticosteroid application: case report and review literature  

Microsoft Academic Search

Prolonged use of topical corticosteroids causes systemic adverse effects including Cushing’s syndrome and hypothalamic–pituitary–adrenal\\u000a (HPA) axis suppression, which is less common than that of the oral or parenteral route. At least 43 cases with iatrogenic\\u000a Cushing syndrome from very potent topical steroid usage (Clobetasol) in children and adult have been published over the last\\u000a 35 years particularly in developing countries. In

Therdpong Tempark; Voraluk Phatarakijnirund; Susheera Chatproedprai; Suttipong Watcharasindhu; Vichit Supornsilchai; Siriwan Wananukul

2010-01-01

400

Rusty pipe syndrome, a cause of bloody nipple discharge: case report.  

PubMed

Abstract Breastfeeding has universally known advantages to the mother and child that include nutritional and immunological benefits but also involve reasons of ecological and economic order. Initiation and maintenance of breastfeeding can be associated with common problems. The beginning of milk production may course with bloody nipple discharge, which, after exclusion of pathological entities, concerns a self-resolving physiological syndrome called rusty pipe. We present a case of rusty pipe syndrome and discuss the implications. PMID:24964086

Silva, Joana Raquel; Carvalho, Rita; Maia, Catarina; Osório, Marta; Barbosa, Marta

2014-10-01

401

Laugier-Hunziker syndrome: a report of three cases and literature review  

PubMed Central

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

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

2012-01-01

402

Physiopathogenic Investigations in a Case of Familial Stiff-Skin Syndrome  

Microsoft Academic Search

Background: Stiff-skin syndrome (SSS) is a rare cutaneous syndrome characterized by stony-hard skin and limitation of joint mobility. Its cause is still unknown. Objective: Biological investigations were performed in a new case of SSS. Methods: Collagen production and DNA biosynthesis were studied from fibroblast culture. Proinflammatory cytokines (TNF-?, IL-6 and TGF-?2) were measured in the patient’s serum. Results were compared

M. A. Richard; J. J. Grob; N. Philip; J. Rey; A. Chamson; J. L. Mege; L. Andrac; F. Faure; N. Basseres; J. J. Bonerandi

1998-01-01

403

Touraine-Soulente-Gol? Syndrome: A Rare Case Report and Review of the Literature  

PubMed Central

Touraine-Soulente-Golé Syndrome (TSG) or pachydermoperiostosis is a rare disorder characterized by pachydermia, periostosis & digital clubbing. Herein, we report a case of a 27 year old male, with the looks of a 47 year old. He presented with excessive wrinkling on his face since past 8 years. TSG syndrome was suspected and examined by histopathological, endocrinological and radiological studies for the confirmation of clinical diagnosis. PMID:24003280

Sidhu, Sandeep; Mahajan, Bharat Bhushan

2013-01-01

404

Dysfluency and Phonic Tics in Tourette Syndrome: A Case Report.  

ERIC Educational Resources Information Center

This study investigated the disfluencies and phonic tics in an 18- year-old male with Tourette syndrome before and after a 3-week period of speech therapy. The subject's speech pattern did not completely conform to the classic pattern of stuttering but bore more resemblance to cluttering. A limited number of therapy sessions resulted in a…

Van Borsel, John; Vanryckeghem, Martine

2000-01-01

405

Gilles de la Tourette Syndrome: A Case Study.  

ERIC Educational Resources Information Center

Describes a Montessori teacher's experience with a sufferer of Tourette's syndrome, a dysfunction characterized by motor and vocal tics. Studies the progress over a school year, including work on academic skills utilizing the Montessori method and behavior. Shares research, successes, and failures in trying to reach the child. (SD)

Hallenberg, Harvey

1997-01-01

406

The Passive in Adolescents with Down Syndrome: A Case Study  

ERIC Educational Resources Information Center

This paper shows that some individuals with Down syndrome are capable of producing, imitating (repeating) and comprehending passive sentences, even though group studies indicate that this is not the norm. Experimental tests of elicited production, repetition and comprehension of passive and active sentences applied in ten adolescents with Down…

Rubin, Maraci Coelho de Barros Pereira

2006-01-01

407

Case Report A Surgical Report of Bland White Garland Syndrome  

Microsoft Academic Search

We report a 22-year-old mother of 2 who presented to us with exertional chest pain for 3 years. On coronary angiography she was diagnosed to be suffering from Bland White Garland syndrome (BWGS). She had a giant and grossly tortuous right coronary artery (RCA) form- ing collaterals with the left coronary artery (LCA), which was draining into the pulmonary artery

Raja Parvez Akhtar; Abdul Waheed; Abdul Rehman Abid; Muhammad Tahir Mohyuddin; Zia Faruqui; Jawad Sajid Khan

408

Short QT syndrome: a case report and review of literature.  

PubMed

The short QT syndrome has been recently recognised as a genetic ion channel dysfunction. This new clinical entity is associated with an incidence of sudden cardiac death, syncope, and atrial fibrillation in otherwise healthy individuals. The distinctive ECG pattern consists of an abnormally short QT interval, a short or even absent ST segment and narrow T waves. A 30-year-old resuscitated woman with short QT syndrome is described together with an example of the classic ECG characteristics. A short-coupled variant of torsade de pointes was reveal on Holter recordings. The implantable cardioveter defibrillator seems to be the therapy of choice to prevent from sudden cardiac death. Quinidine proved to be efficient in prolonging the QT interval and rendering ventricular tachyarrhythmias non-inducible in patients with a mutation in KCNH2 (HERG). Our preliminary data suggest amiodarone combined with beta-blocker may be helpful in treating episodes of polymorphic ventricular tachycardia for patients with an unknown genotype. Because the short QT syndrome often involves young patients with an apparently normal heart, it is imperative for physicians to recognize the clinical features of the short QT syndrome in making a timely correct diagnosis. PMID:16942825

Lu, Li Xiong; Zhou, Wei; Zhang, Xingyu; Cao, Qin; Yu, Kanglong; Zhu, Changqing

2006-10-01

409

Hypnotherapy and Refractory Irritable Bowel Syndrome: A Single Case Study  

Microsoft Academic Search

The current study describes the successful administration of hypnotherapy with a subject suffering from refractory Irritable Bowel Syndrome (IBS) and Generalized Anxiety Disorder (GAD). The subject had suffered from IBS for 30 years and had unsuccessfully pursued multiple psychological treatments, both traditional and non-traditional. He was referred to the Center for Stress and Anxiety Disorders and commenced hypnotherapy directed primarily

Tara E. Galovski; Edward B. Blanchard

2002-01-01

410

A Diagnostic Profile of Gerstmann's Syndrome: A Case Study  

ERIC Educational Resources Information Center

The authors present a diagnostic profile of Gerstmann's syndrome, the subject being a girl, aged 10 years 3 months, right-handed, and at the time of this study in her fourth school year (Grade 4). The subject's verbal and non-verbal IQ scores and additional assessment data were analyzed and summative responses given. The Senior South African…

Naude, H.; Pretorius, E.

2003-01-01

411

Repeated mandibular lengthening in Treacher Collins syndrome: a case report  

Microsoft Academic Search

A patient with mandibular hypoplasia associated with Treacher Collins syndrome was treated by bilateral distraction osteogenesis. Since less than optimal length was provided by the first distraction, a second corticotomy was performed in the newly formed bone 6 months after the first distraction. Thus, bone gained by distraction osteogenesis was subjected to distraction once again. New bone formation occurred after

Oya Kocabalkan; Gürsel Leblebicio?lu; Yücel Erk; Ayhan Enacar

1995-01-01

412

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

ERIC Educational Resources Information Center

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

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

1973-01-01

413

A case series of patients with Tourette's syndrome in the United Kingdom treated with aripiprazole  

Microsoft Academic Search

Objective These cases illustrate that a new neuroleptic, aripiprazole, may be an effective treatment for the motor and vocal tics of Tourette Syndrome (TS), even in younger people. Method A case series of 11 consecutive patients with TS (age range 7-50 years; M ¼ 7) who were felt to require neuroleptic medication, were treated with aripiprazole, the majority of whom

Lisa Davies; Jeremy S. Stern; Niruj Agrawal; Mary M. Robertson

2006-01-01

414

Infectious Diseases Presentations of Mmchausen Syndrome by Proxy: Case Report and Review of the Literature  

Microsoft Academic Search

Munchausen syndrome by proxy is a form of abuse, usually of a child by a parent, in which a factitious illness is reported or produced in the child, resulting in unnecessary medical evaluations and treatments. A dramatic case of a 17-month-old infant with recurrent polymicrobial bacteremia prompted a review of cases diagnosed by the Pediatric Infectious Diseases consultation service at

Johanna Goldfarb; Kathleen W. Lawry; Rita Steffen; Camille Sabella

1998-01-01

415

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

ERIC Educational Resources Information Center

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

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

2006-01-01

416

Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.  

PubMed

The planar cell polarity (PCP) signaling pathway governs collective cell movements during vertebrate embryogenesis, and certain PCP proteins are also implicated in the assembly of cilia. The septins are cytoskeletal proteins controlling behaviors such as cell division and migration. Here, we identified control of septin localization by the PCP protein Fritz as a crucial control point for both collective cell movement and ciliogenesis in Xenopus embryos. We also linked mutations in human Fritz to Bardet-Biedl and Meckel-Gruber syndromes, a notable link given that other genes mutated in these syndromes also influence collective cell movement and ciliogenesis. These findings shed light on the mechanisms by which fundamental cellular machinery, such as the cytoskeleton, is regulated during embryonic development and human disease. PMID:20671153

Kim, Su Kyoung; Shindo, Asako; Park, Tae Joo; Oh, Edwin C; Ghosh, Srimoyee; Gray, Ryan S; Lewis, Richard A; Johnson, Colin A; Attie-Bittach, Tania; Katsanis, Nicholas; Wallingford, John B

2010-09-10

417

Cri du chat syndrome: a series of five cases.  

PubMed

The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial deletion of the short (p) arm of chromosome 5. We describe five children who were diagnosed to have CdCS by conventional cytogenetic analysis. The deletion was at 5p15 in four patients, whereas the fifth had a larger, more proximal deletion at 5p14. Fluorescence in situ hybridization (FISH) analysis confirmed the deletion of the CdCS critical region at 5p15.2. All five children had global developmental delay and dysmorphism with microcephaly. The other clinical features were variable. Since the clinical diagnosis of CdCS may not always be evident because of the phenotypic heterogeneity, cytogenetic analysis is necessary to establish the diagnosis and confirm that the deletion involves the CdCS critical region. This will enable early intervention which plays an important role in improving the outcome. PMID:23455788

Dangare, Harsha M; Oommen, Samuel P; Sheth, Amisha N; Koshy, Beena; Roshan, Reeba; Thomas, Maya M; Danda, Sumita; Srivastava, Vivi M

2012-01-01

418

Successful treatment of SAPHO syndrome with adalimumab: a case report.  

PubMed

SAPHO syndrome is a disorder involving the skin, bone and joints. The underlying causes of SAPHO are poorly understood, and treatment is, therefore, directed towards the individual symptoms. However, many patients are refractory to treatment, and new treatment options are needed. Herein, we describe a 28-year-old patient with SAPHO syndrome and palmoplantar pustulosis seen at our hospital. Treatment was initiated with non-steroidal anti-inflammatory drugs, but clinical improvement was poor. The addition of sulfasalazine and oral alendronate also failed to alleviate symptoms. We subsequently commenced treatment with adalimumab 40 mg every 15 days and suspended bisphosphonates. Following 4 weeks' treatment with adalimumab, there was clear articular improvement and disappearance of palmoplantar pustulous lesions. Nocturnal inflammatory lumbar pain and global disease assessment were also improved. To our knowledge, this is the first report on the use of adalimumab for SAPHO. More studies are required to confirm our findings. PMID:20446011

Castellví, Ivan; Bonet, Maria; Narváez, Jose A; Molina-Hinojosa, Jose C

2010-10-01

419

Moyamoya syndrome in a known case of pulmonary tuberculosis  

PubMed Central

We report an unusual association of pulmonary tuberculosis with moyamoya syndrome in a 30-year-old Filipino female who was admitted to our hospital with a 1-week history of fever and cough. Chest X-ray showed widespread bilateral consolidation with cavity, whereas sputum was positive for acid fast bacilli (AFB). Two weeks after starting antituberculous treatment, the patient developed two episodes of loss of consciousness, which were unwitnessed. Urgent brain computed tomography (CT) showed multiple infarctions, suggesting vasculitis. The electroencephalogram showed epileptic discharges. Magnetic resonance angiography showed a picture consistent with moyamoya disease. Brain CT angiography was performed and it showed the same pictures. The patient was diagnosed with pulmonary tuberculosis-associated moyamoya syndrome. On the following days, she was discharged on antituberculous medications, antiepileptic and oral hypoglycemic treatment. After 1 year, the patient was seen in the clinic, she was well and seizure-free. PMID:21808515

Khan, Fahmi Yousef; Kamal, Hussain; Musa, Rania; Hayati, Ahmed

2010-01-01

420

Role of ultrasound in posteromedial tarsal tunnel syndrome: 81 cases.  

PubMed

Posteromedial tarsal tunnel syndrome is a disorder affecting the tibial nerve or its branches. Diagnosis is established on the basis of physical examination and can be confirmed by electrophysiological evidence. However, diagnostic imaging is always required to identify the possible site of compression. High-resolution ultrasound (US) is playing an increasingly important role in the study of the nerves thanks to a series of advantages over magnetic resonance imaging, such as lower costs and widespread availability, high spatial resolution, fast examination using axial scans, dynamic and comparative studies, possibility of carrying out a study with the patient in the standing position, US Tinel sign finding, and the contribution of color/power Doppler US. We present the results obtained in a series of 81 patients who underwent US imaging between 2008 and 2013 due to posteromedial tarsal tunnel syndrome. PMID:24883135

Fantino, Olivier

2014-06-01

421

Congenital pancreatic cyst with Ivemark II syndrome: a rare case.  

PubMed

An infant with congenital pancreatic cyst with Ivemark II syndrome is reported because it is a rare association. The infant had associated situs inversus, asplenia, and complex congenital heart disease. The pancreatic cyst was successfully managed by cystoduodenostomy because of connection to the biliary tract. The infant succumbed as a result of heart failure at age 2 months. Prognosis depends on the presence of life-threatening malformations. PMID:22424375

Chahed, Jamila; Mekki, Mongi; Aloui, Sameh; Hidouri, Saida; Ksia, Amine; Krichène, Imed; Maazoun, Kais; Sahnoun, Lassaad; Belghith, Mohsen; Salem, Randa; Njim, Leila; Nouri, Abdellatif

2012-03-01

422

Refeeding syndrome in Southeastern Taiwan: Our experience with 11 cases  

PubMed Central

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

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

2014-01-01

423

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

PubMed Central

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

Ashoori, Aidin; Jankovic, Joseph

2007-01-01

424

A case of congenital myasthenic syndrome with episodic apnea  

PubMed Central

Congenital myasthenic syndrome is difficult to diagnose, especially in the neonate when classic myasthenic signs may not be present. Congenital myasthenic syndrome with episodic apnea is a rare cause of recurrent apnea in infancy. We present an infant with nine severe episodes of apnea in the first six months of life who underwent a prolonged evaluation before ptosis was observed, leading to the diagnosis of choline acetyltransferase deficiency, a form of congenital myasthenic syndrome. Midazolam appeared to resolve the apnea on five occasions. The diagnosis was supported by edrophonium testing and repetitive nerve stimulation. Mutation analysis demonstrated compound heterozygous p. T354M and p. A557T mutations, the latter of which is novel. The patient’s respiratory status stabilized on pyridostigmine, and she is ambulatory at 3 years. Pyridostigmine is the primary therapy for choline acetyltransferase deficiency, but the observation of the efficacy of midazolam during this patient’s episodes of apnea is interesting, and bears further study. PMID:19520274

Mallory, Leah A.; Shaw, James G.; Burgess, Stephanie L.; Estrella, Elicia; Nurko, Samuel; Burpee, Tyler M.; Agus, Michael S.; Darras, Basil T.; Kunkel, Louis M.; Kang, Peter B.

2009-01-01

425

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

PubMed Central

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

2014-01-01

426

Cancer of the supernumerary ovary in Mayer-Rokitansty-Küster-Hauser Syndrome: A case report  

PubMed Central

Mayer-Rokitansty-Küster-Hauser (MRKH) syndrome is a Müllerian anomaly that presents with varying degrees of uterovaginal aplasia and is secondarily associated with cervicothoracic, auditory and skeletal anomalies. However, MRKH syndrome patients have normal and functional ovaries. A supernumerary ovary is an extremely rare form of an ectopic ovary and there are no reported cases of MRKH syndrome with cancer of the supernumerary ovary in the current literature. A 31-year-old female with a history of MRKH syndrome that was diagnosed 4 years previously presented with abdominal pain and a suspected malignant pelvic mass was identified. During the staging surgery, both ovaries were separated from the main mass, observed and removed. A third ovary was discovered in the pelvic mass and the diagnosis of primary ovarian cancer from the third ovary was confirmed by immunohistochemistry. We report the first known case of cancer of the supernumerary ovary in a patient with MRKH syndrome. Although both ovaries were confirmed to be normal in the patient with MRKH syndrome, we propose that an ovarian neoplasm should be considered in the diagnosis of a pelvic mass. PMID:23420814

BAE, HYO SOOK; RYU, MIN JI; KIM, IN SUN; KIM, SUN HAENG; SONG, JAE YUN

2013-01-01

427

Management of Klippel-Feil syndrome combined with Turner syndrome: a case report.  

PubMed

A 12-year-old female with Klippel-Feil syndrome (KFS) combined with Turner syndrome (TS) and a submucous cleft palate (CP) was presented. The patient reportedly had TS and had received growth hormone (GH) therapy. Because of her skeletal Class III pattern with a steep mandibular plane angle, facial asymmetry, and fused cervical vertebrae, the effects of the GH on her craniofacial complex needed to be considered at the start of orthopedic/orthodontic treatment. To manage submucous CP with severe maxillary deficiency, a rigid external distraction (RED) device was used. The total active treatment time was 34 months including distraction osteogenesis (DO). Treatment improved both her occlusion and facial appearance. PMID:23729137

Park, Jae Hyun; Tai, Kiyoshi; Sato, Yasumori

2013-01-01

428

Freeman Sheldon syndrome with marked kyphoscoliosis at birth: a case report.  

PubMed

Freeman sheldon syndrome or Whistling face syndrome is a disorder involving face and the musculoskeletal system. There are three basic abnormalities like microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers and talipes equinovarus. Other associated less specific abnormalities are short broad neck, kyphoscoliosis. Most of the features are due to increased muscle tone. Here we are presenting a newborn with multiple congenital anomaly like microstomia with pouting lips, H like dimple of the chin, hypoplastic alae nasi, plug like nostrils, short and broad neck. Bilateral talipes equinovarus, gibbus, contracture of both upper and lower limbs with ulnar deviation of the fingers of the hand was noted. On radiological evaluation kyphoscoliosis and oar blade shaped ribs arranged in centrifugal fashion was found. The patient was diagnosed as a case of Freeman Sheldon syndrome (whistling face syndrome) on the basis of minimal diagnostic criteria, unique clinical and radiological features. She received both medical and orthopaedic management and improved. PMID:23416834

Naher, B S; Hossain, A; Islam, S T; Ali, M A

2013-01-01

429

Torticollis as the main presentation in a child with russell-silver syndrome: a case report.  

PubMed

Russell-Silver syndrome is a genetic disorder the inheritance pattern of which is mostly sporadic. Some of the features of the syndrome are present at birth, and others appear in later years. The main clinical features include low birth weight, poor growth postnatally, short height, and discrepancies in size between the two sides of the body Abu-Amera et al. (2008), Binder et al. (2011). There is no statistical significant difference in prevalence between males and females. We report a case of Russell-Silver syndrome with intrauterine and postnatal growth retardation, triangular face, and body asymmetry, in addition to torticollis as a novel manifestation. In neck sonography, we found asymmetry of sternocleidomastoid muscles. In conclusion, we describe torticollis as a presentation of Russell-Silver syndrome. PMID:23198234

Javadzadeh, Mohsen; Saneifard, Hedieh; Hosseini, Amir Hossein

2012-01-01

430

Challenges in the management of a patient with Cowden syndrome: case report and literature review.  

PubMed

We would like to present a patient with a classical phenotype of a rare disorder - Cowden syndrome, its diagnostics and management challenges. A breast surgeon has to be aware of this rare condition when treating a patient with breast manifestations of Cowden syndrome and has to refer the patient to a clinical geneticist for further evaluation. Sequencing of the PTEN gene showed the Asp24Gly mutation. According to the latest literature data, the lifetime risk of breast cancer for Cowden syndrome patients is 81% and surgery is a justified option to reduce the risk of breast cancer. Bilateral risk-reducing mastectomy with immediate reconstruction was performed to eliminate further risk of breast cancer. 3 years after the risk-reducing breast surgery the patient is satisfied with the outcome. This is to our best knowledge the first reported Cowden syndrome case with follow-up data after risk-reducing measures have been taken. PMID:22503188

Melb?rde-Gorkuša, Inga; Irmejs, Arv?ds; B?rzi?a, Dace; Strumfa, Ilze; Aboli?š, Arnis; Gardovskis, Andris; Subatniece, Signe; Trofimovi?s, Gen?dijs; Gardovskis, J?nis; Miklaševi?s, Edv?ns

2012-01-01

431

Report of a case with 19 supernumerary teeth in a non-syndromic patient  

PubMed Central

Supernumerary teeth occur frequently in human dentition, but presence of multiple supernumerary teeth in patients without any associated syndrome or systemic disorder is a rare phenomenon. Presence of supernumerary teeth in itself is not a problem and may not require removal in all cases but in certain conditions, they may be associated with several clinical complications and require removal. Here, we present a 14 year old female who complained of non emergence of permanent teeth. Orthopantomogram initially showed presence of fifteen impacted supernumerary teeth distributed in all quadrants, but later, cone-beam computed tomography further revealed four additional teeth, totaling to nineteen supernumerary teeth. Consultation with concerned specialists ruled out any syndromes or systemic disorders which led us to the diagnosis of “non-syndromic multiple supernumerary teeth” and this probably is the highest number of supernumerary teeth reported in a single non-syndromic patient till date.

Yan, Lei; Yu, Long Wang; Bhandari, Kishor; Shan, Chang Li

2014-01-01

432

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

PubMed

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

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

2013-10-01

433

Triple X Syndrome with Short Stature: Case Report and Literature Review  

PubMed Central

Background Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. It is mainly derived from maternal nondisjunctional errors during meiosis. To highlight the clinical features and diagnosis of triple X syndrome, we present a rare phenotype of the syndrome. Case Presentation A 5.9 year-old girl was admitted to our hospital because of short stature. Both her height and weight were below the 3rd percentile compared to the normal peers. She was found with mild motor and speech delay. Laboratory investigation showed low level of IGF-1 and zinc, elevated estradiol level and normal result of arginine provocation test. Conclusion Our data suggest that triple X syndrome should also be suspected in patients with short stature, elevated estradiol and low level of IGF-1, even with normal result of arginine provocation test. PMID:23056899

Li, Mingyan; Zou, Chaochun; Zhao, Zhengyan

2012-01-01

434

Sequential Supernumerary Teeth Development in a Non-Syndromic Patient; Report of a Rare Case  

PubMed Central

Isolated impacted supernumerary teeth are quite rare, but they can be seen associated with several syndromes such as cleidocranial dysostosis or Gardner’s syndrome. This article aims to discuss a case of sequential formation of supernumerary teeth with no other associated disease or syndrome. A 17-year-old Iranian male with 8 impacted supernumerary teeth was referred to the department of pediatric dental clinic at Shahid Beheshti Medical University in Tehran with a history of several impacted unerupted teeth. Repeated and periodical clinical and radiographic examinations revealed newly formed teeth buds in unusual dental ages. All extra teeth were associated with generalized enamel hypoplasia to some degree on their relative permanent adjacent teeth. The patient did not have any record of a systemic disease or any syndromic condition to relate his dental problem to. This rare condition involved repeated and continued formation of extra teeth out of the normal numbers and dental age evident in serial radiographs. PMID:24910667

Jafarian, Mohammad; Nazemi, Bahareh; Bargrizan, Majid; Ramezani, Jamileh; Ansari, Ghassem

2013-01-01

435

Syndrome of Hajdu-Cheney: three case reports of orofacial interest.  

PubMed

Hajdu-Cheney syndrome is a rare, probably autosomal dominant connective tissue disorder with a variable expressivity. It is characterized by an osteoporotic skeleton, acro-osteolysis, a proportionate short stature, and distinctive orofacial anomalies. The aim of this article is to focus on the orofacial manifestations in two sporadic cases and one familial case with Hajdu-Cheney syndrome. Several common dental and craniofacial features are described. In contrast to earlier proposed diagnostic features, these patients show persisting deciduous teeth, problematic tooth eruption, and tendency toward a Class III malocclusion. PMID:20500061

Vingerhoedt, E; Bailleul-Forestier, I; Fellus, P; Schoenaers, J; Frijns, J-P; Carels, C

2010-11-01

436

Rare Appendicitis-Like Syndrome: The Case of the Obstructing Broccoli  

PubMed Central

The diagnosis of acute appendicitis can be somewhat obscure in a patient that presents with right lower quadrant abdominal pain. The advancement and ease of imaging have made CT scanning readily available in the emergency department. Management can be challenging when the patient has a high likelihood of appendicitis based on clinical suspicion and negative CT scan. The purpose of this case report is to demonstrate how an obstructing bezoar caused an appendicitis-like syndrome in a patient with negative CT scan and clinical diagnosis of acute appendicitis. This case report will discuss the appendicitis-like syndrome of an obstructing bezoar and an approach at management. PMID:24864147

Jones, Stephen; Narh-Martey, Patrick; Dhaliwal, Amanpreet; Persson, Jessica; Orr, Denis

2014-01-01

437

Three cases of corticosteroid therapy triggering ventricular fibrillation in J-wave syndromes.  

PubMed

We describe three cases of J-wave syndrome in which ventricular fibrillation (VF) was probably induced by corticosteroid therapy. The patients involved were being treated with prednisolone for concomitant bronchial asthma. One of the three patients had only one episode of VF during her long follow-up period (14 years). Two patients had hypokalemia during their VF episodes. Corticosteroids have been shown to induce various types of arrhythmia and to modify cardiac potassium channels. We discuss the possible association between corticosteroid therapy and VF in J-wave syndrome based on the cases we have encountered. PMID:24281399

Sakamoto, Naka; Sato, Nobuyuki; Goto, Masahide; Kobayashi, Motoi; Takehara, Naofumi; Takeuchi, Toshiharu; Talib, Ahmed Karim; Sugiyama, Eitaro; Minoshima, Akiho; Tanabe, Yasuko; Akasaka, Kazumi; Kawabe, Junichi; Kawamura, Yuichiro; Doi, Atsushi; Hasebe, Naoyuki

2014-11-01

438

A nephrotic syndrome of tropical origin: case report and short review of the aetiology.  

PubMed

We present a case of nephrotic syndrome in a 38-year-old man of Ivorian origin. In the search of the cause of his illness an infection with Plasmodium malariae (P. malariae) was diagnosed by serology and by microscopy of a Giemsa thin blood smear which revealed rare gametocytes of P. malariae. Proteinuria significantly diminished within three months after antimalarial treatment. Antibodies against Schistosoma were detected as well. Examination of kidney biopsy revealed a discrete mesangioproliferative glomerulonephritis. This case highlights that a thorough history-taking may be essential and that infectious diseases should be included in the differential diagnostic thinking process when a nephrotic syndrome is diagnosed. PMID:25103593

Halleux, D; Moerman, F; Gavage, P; Carpentier, M; Van Esbroeck, M; Craenen, S; Firre, E; Moonen, M; Warling, X; Masset, C; Radermacher, L

2014-10-01

439

[A case of amnesic syndrome caused by hematoma in the left anterior medial thalamus].  

PubMed

We reported a case of amnestic syndrome caused by a hematoma in the left thalamus. The case was that of a 68-year-old, right-handed man who suddenly showed amnestic syndrome. He had neither motor paresis nor sensory disturbance. Clinical examination showed he had disorientation, anterograde amnesia and mild retrograde amnesia. Immediate recall and remote memory were intact, but recent memory was severely impaired. CT scan revealed a high density area in the anterior medial part of the left thalamus. We concluded that amnesia in this patient was caused by fasciculus mamillothalamicus damage because of a hematoma during thalamic hemorrhage. PMID:8559265

Maeshima, S; Naka, D; Nakai, K; Jianping, L; Itakura, T; Komai, N; Maeshima, E; Fujimoto, A

1996-01-01

440

Currarino syndrome in an adult presenting with a presacral abscess: a case report  

PubMed Central

Introduction Currarino syndrome (Currarino triad) was described in 1981 as a triad syndrome with a common embryogenesis in infants and with three characteristics: anorectal stenosis, a defect in the sacral bone, and a presacral mass. We describe here an unusual case of Currarino syndrome in an adult presenting with a presacral abscess but no meningitis. Case presentation A 32-year-old Japanese man presented with fever, arthralgia and buttock pain. A digital rectal examination showed mild rectal stenosis with local warmth and tenderness in the posterior wall of his rectum. Computed tomography showed a scimitar-shaped deformity of his sacrum and an 8cm presacral mass, which continued to a pedicle of his deformed sacrum. This was diagnosed as Currarino syndrome with a presacral abscess. The abscess was drained by a perianal approach with our patient treated with antibiotics. His symptoms soon disappeared. After three months, an excision was performed through a posterior sagittal approach. His postoperative course was uneventful and he was discharged 10 days after surgery. A histopathological examination revealed an infected epidermoid cyst. He has been free from recurrence as of four years and six months after surgery. Conclusions We report a case of Currarino syndrome in an adult who presented with a presacral abscess but no meningitis. Abscess drainage followed by radical surgery resulted in a successful outcome. PMID:24571710

2014-01-01

441

Reversible cerebral vasoconstriction syndrome in a patient taking citalopram and Hydroxycut: a case report  

PubMed Central

Introduction Reversible cerebral vasoconstriction syndrome presents with thunderclap headaches accompanied by mild neurologic deficits and is characterized by multifocal narrowing of the cerebral arteries that resolves over days to weeks. This syndrome may be idiopathic or occur in special contexts, most often involving adrenergic or serotonergic overactivity. To the best of our knowledge, reversible cerebral vasoconstriction syndrome has not previously been reported in association with Hydroxycut use in the literature. Case Presentation We report the case of a 65-year-old Caucasian woman on longstanding citalopram who developed reversible cerebral vasoconstriction syndrome two weeks after beginning to take the weight-loss supplement Hydroxycut. Conclusion There are sparse data about the safety of herbal supplements such as Hydroxycut, even though the Food and Drug Administration has banned some herbal ingredients, such as ephedra, that were in this preparation in the past. This case highlights the importance of considering herbal supplements and potential drug interactions in the genesis of otherwise unexplained reversible cerebral vasoconstriction syndrome. PMID:22074635

2011-01-01

442

Melnick-Needles Syndrome Associated with Growth Hormone Deficiency: A Case Report  

PubMed Central

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. Conflict of interest:None declared. PMID:21274303

Adal, Erdal; Ak?n, Mustafa Ali; Kurtoglu, Selim

2009-01-01

443

Ulcerative colitis and Sweet's syndrome: a case report and review of the literature.  

PubMed

A 47-year-old man with a history of ulcerative colitis on prednisone and azathioprine was admitted to the hospital with a four-day history of fever, skin rash, arthralgias and leukocytosis. A skin biopsy demonstrated neutrophilic infiltration of the dermis that was consistent with Sweet's syndrome. He improved after several days with an increase in his prednisone and azathioprine. Sweet's syndrome is a rare cutaneous manifestation of inflammatory bowel disease, with approximately 40 cases reported in the literature. In a previously reported case of a patient with ulcerative colitis-associated Sweet's syndrome who was on azathioprine at the time of the skin eruption, the azathioprine was stopped, raising the possibility of drug-induced Sweet's syndrome. In the present case, the azathioprine was actually increased with complete resolution of the skin manifestations. This would support the theory that immunosuppressive therapy is the mainstay of therapy for this condition. In conclusion, Sweet's syndrome is a neutrophilic dermatosis that is rarely associated with ulcerative colitis. It may occur while on immunosuppressive therapy and responds to an intensification of immunosuppression. PMID:18354759

Ali, M; Duerksen, D R

2008-03-01

444

Intersection Syndrome in a Handcyclist: Case Report and Literature Review  

PubMed Central

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

2013-01-01

445

A Case of Neuromyelitis Optica Masquerading as Miller Fisher Syndrome  

PubMed Central

A 22-year-old woman presented with double vision that she had experienced since an infection 2 weeks previously. A neurological examination showed limited bilateral eye abduction, mimicking Miller Fisher syndrome. However, T2-weighted magnetic resonance imaging of her brain revealed hyperintense areas in the tegmentum of the pons, including the abducens nucleus, and her serum anti-aquaporin-4 antibody test was positive. She was finally diagnosed with neuromyelitis optica. Intravenous high-dose steroid therapy immediately improved the patient's abduction palsy, but bilateral optic neuritis manifested during the treatment. Subsequent treatment with plasma exchange improved her optic neuritis symptoms. PMID:25408664

Furutani, Yuka; Hata, Masayuki; Miyamoto, Kazuaki; Moribata, Yusaku; Yoshimura, Nagahisa

2014-01-01