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1

A case report on the bardet biedl syndrome with hypokalaemic paralysis.  

PubMed

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

2013-06-01

2

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

2012-06-20

3

Bardet–Biedl syndrome: beyond the cilium  

Microsoft Academic Search

The Bardet–Biedl syndrome (BBS) is a significant genetic cause of chronic and end-stage renal failure in children. Despite\\u000a being a relatively rare recessive condition, BBS has come to prominence during the past few years owing to revelations of\\u000a primary cilia dysfunction underlying pathogenesis. The study of this multi-system disorder, which includes obesity, cognitive\\u000a impairment, genito-urinary tract malformations and limb deformities,

Jonathan L. Tobin; Philip L. Beales

2007-01-01

4

Dissection of epistasis in oligogenic Bardet-Biedl syndrome  

Microsoft Academic Search

Epistatic interactions have an important role in phenotypic variability, yet the genetic dissection of such phenomena remains challenging. Here we report the identification of a novel locus, MGC1203, that contributes epistatic alleles to Bardet-Biedl syndrome (BBS), a pleiotropic, oligogenic disorder. MGC1203 encodes a pericentriolar protein that interacts and colocalizes with the BBS proteins. Sequencing of two independent BBS cohorts revealed

Jose L. Badano; Carmen C. Leitch; Stephen J. Ansley; Helen May-Simera; Shaneka Lawson; Richard Alan Lewis; Philip L. Beales; Harry C. Dietz; Shannon Fisher; Nicholas Katsanis

2006-01-01

5

The importance of renal impairment in the natural history of bardet-biedl syndrome  

Microsoft Academic Search

Bardet-Biedl syndrome is a rare autosomal recessive disease characterized by dysphormic extremities, retinal dystrophy, obesity, hypogenitalism in males, and renal structural abnormalities. Because the clinical outcome of these patients is not well known, 21 families with Bardet-Biedl syndrome (BBS) were studied to determine the natural history of the disease. In a prospective cohort study, 38 patients with the syndrome and

Daneile O'Dea; Patrick S. Parfrey; John D. Harnett; Donna Hefferton; Benvon C. Cramer; Jane Green

1996-01-01

6

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

PubMed Central

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

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

2012-01-01

7

Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.  

PubMed

From a handful of uncloned genetic loci 6 years ago, great strides have been made in understanding the genetic and molecular aetiology of Bardet-Biedl syndrome (BBS), a rare pleiotropic disorder characterised by a multitude of symptoms, including obesity, retinal degeneration and cystic kidneys. Presently, 11 BBS genes have been cloned, with the likelihood that yet more BBS genes remain undiscovered. In 2003, a major breakthrough was made when it was shown that BBS is likely caused by defects in basal bodies and/or primary cilia. Since then, studies in numerous animal models of BBS have corroborated the initial findings and, in addition, have further refined the specific functions of BBS proteins. These include roles in establishing planar cell polarity (noncanonical Wnt signaling) in mice and zebrafish, modulating intraflagellar transport and lipid homeostasis in worms, and regulating intracellular trafficking and centrosomal functions in zebrafish and human tissue culture cells. From these discoveries, a common theme has emerged, namely that the primary function of BBS proteins may be to mediate and regulate microtubule-based intracellular transport processes. PMID:16909204

Blacque, O E; Leroux, M R

2006-09-01

8

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome  

Microsoft Academic Search

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning disabilities. Although five BBS genes have been cloned, the molecular basis of this syndrome remains elusive. Here we show that BBS is probably caused by a defect at the basal body of ciliated cells. We have cloned a new BBS gene,

Stephen J. Ansley; Jose L. Badano; Oliver E. Blacque; Josephine Hill; Bethan E. Hoskins; Carmen C. Leitch; Jun Chul Kim; Alison J. Ross; Erica R. Eichers; Tanya M. Teslovich; Allan K. Mah; Robert C. Johnsen; John C. Cavender; Richard Alan Lewis; Michel R. Leroux; Philip L. Beales; Nicholas Katsanis

2003-01-01

9

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function  

Microsoft Academic Search

Bardet-Biedl syndrome (BBS) is characterized by obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies as well as hypertension and diabetes. The nine known BBS genes do not appear to belong to the same functional category; yet mutation of these genes results in a nearly identical pleiotropic phenotype. Although the precise functions of the BBS proteins have yet to be

Hsan-Jan Yen; Marwan K. Tayeh; Robert F. Mullins; Edwin M. Stone; Val C. Sheffield; Diane C. Slusarski

2006-01-01

10

Differences in Renal Tubule Primary Cilia Length in a Mouse Model of Bardet-Biedl Syndrome  

Microsoft Academic Search

Background: Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder that comprises numerous features, including renal cystic disease. Twelve BBS genes have been identified (BBS1–12). Although the exact functions of the BBS proteins are unknown, evidence suggests that they are involved in cilia assembly, maintenance and\\/or function. Renal primary cilia dysfunction can lead to cystic kidney disease. To test whether lacking

Elaine M. Mokrzan; Jacqueline S. Lewis; Kirk Mykytyn

2007-01-01

11

Early sonographic aspects of kidney morphology in Bardet-Biedl syndrome  

Microsoft Academic Search

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

Jürgen Dippell; Despina E. Varlam

1998-01-01

12

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.

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

2013-01-01

13

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.  

PubMed

Bardet-Biedl Syndrome is a multisystem autosomal recessive disorder characterized by central obesity, polydactyly, hypogonadism, learning difficulties, rod-cone dystrophy and renal dysplasia. Bardet-Biedl Syndrome has a prevalence rate ranging from 1 in 100,000 to 1 in 160,000 births although there are communities where Bardet-Biedl Syndrome is found at a higher frequency due to consanguinity. We report here a Pakistani consanguineous family with two affected sons with typical clinical features of Bardet-Biedl Syndrome, in addition to abnormal liver functioning and bilateral basal ganglia calcification, the latter feature being typical of Fahr's disease. Homozygous regions obtained from SNP array depicted three known genes BBS10, BBS14 and BBS2. Bidirectional sequencing of all coding exons by traditional sequencing of all these three genes showed a homozygous deletion of 10 nucleotides (c.1958_1967del), in BBS10 in both affected brothers. The segregation analysis revealed that the parents, paternal grandfather, maternal grandmother and an unaffected sister were heterozygous for the deletion. Such a large deletion in BBS10 has not been reported previously in any population and is likely to be contributing to the phenotype of Bardet-Biedl Syndrome in this family. PMID:23403234

Agha, Zehra; Iqbal, Zafar; Azam, Maleeha; Hoefsloot, Lies H; van Bokhoven, Hans; Qamar, Raheel

2013-02-09

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.

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

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome.  

PubMed

Progress in understanding the cause of the once obscure condition Bardet-Biedl syndrome (BBS) has been rapid since 2003. That BBS is now known to be a disorder of cilia and basal body function has been facilitated by the recent discovery of the novel genes BBS3, 5, 7 and 8 (eight BBS genes in total) and confirmed by the generation of genetic model systems in mice, Chlamydomonas, Caenorhabditis elegans and Drosophila melanogaster. These discoveries have been aided significantly by several elegant comparative genomic exercises, highlighting the utility of such approaches. The high level of species conservation and genetic heterogeneity indicates the fundamental importance of this family of genes and the pathways in which they operate. In the next few years, these pathways will be revealed, and their impact on the development of systems as diverse as the cardiovascular, neurological, endocrinological and skeletal will be realized. PMID:15917208

Beales, Philip L

2005-06-01

17

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

Microsoft Academic Search

Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, short stature, cognitive impairment, and developmental delays. Disruptions of BBS proteins in a variety of organisms impair cilia formation and function and the multi-organ defects of BBS have been attributed to deficiencies in various cilia-associated signaling pathways. In C. elegans, bbs genes are

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

2011-01-01

18

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals  

Microsoft Academic Search

Bardet–Biedl syndrome (BBS) is a rare, primarily autosomal-recessive ciliopathy. The phenotype of this pleiotropic disease\\u000a includes retinitis pigmentosa, postaxial polydactyly, truncal obesity, learning disabilities, hypogonadism and renal anomalies,\\u000a among others. To date, mutations in 15 genes (BBS1–BBS14, SDCCAG8) have been described to cause BBS. The broad genetic locus heterogeneity renders mutation screening time-consuming and expensive.\\u000a We applied a strategy of

Sabine Janssen; Gokul Ramaswami; Erica E. Davis; Toby Hurd; Rannar Airik; Jennifer M. Kasanuki; Lauren Van Der Kraak; Susan J. Allen; Philip L. Beales; Nicholas Katsanis; Edgar A. Otto; Friedhelm Hildebrandt

2011-01-01

19

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.  

PubMed

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning disabilities. Although five BBS genes have been cloned, the molecular basis of this syndrome remains elusive. Here we show that BBS is probably caused by a defect at the basal body of ciliated cells. We have cloned a new BBS gene, BBS8, which encodes a protein with a prokaryotic domain, pilF, involved in pilus formation and twitching mobility. In one family, a homozygous null BBS8 mutation leads to BBS with randomization of left-right body axis symmetry, a known defect of the nodal cilium. We have also found that BBS8 localizes specifically to ciliated structures, such as the connecting cilium of the retina and columnar epithelial cells in the lung. In cells, BBS8 localizes to centrosomes and basal bodies and interacts with PCM1, a protein probably involved in ciliogenesis. Finally, we demonstrate that all available Caenorhabditis elegans BBS homologues are expressed exclusively in ciliated neurons, and contain regulatory elements for RFX, a transcription factor that modulates the expression of genes associated with ciliogenesis and intraflagellar transport. PMID:14520415

Ansley, Stephen J; Badano, Jose L; Blacque, Oliver E; Hill, Josephine; Hoskins, Bethan E; Leitch, Carmen C; Kim, Jun Chul; Ross, Alison J; Eichers, Erica R; Teslovich, Tanya M; Mah, Allan K; Johnsen, Robert C; Cavender, John C; Lewis, Richard Alan; Leroux, Michel R; Beales, Philip L; Katsanis, Nicholas

2003-09-21

20

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene  

PubMed Central

Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS genes representing all known mapped loci have been identified. Mutation analysis of the known BBS genes in BBS patients indicate that additional BBS genes exist and/or that unidentified mutations exist in the known genes. To identify new BBS genes, we performed homozygosity mapping of small, consanguineous BBS pedigrees, using moderately dense SNP arrays. A bioinformatics approach combining comparative genomic analysis and gene expression studies of a BBS-knockout mouse model was used to prioritize BBS candidate genes within the newly identified loci for mutation screening. By use of this strategy, parathyroid hormone-responsive gene B1 (B1) was found to be a novel BBS gene (BBS9), supported by the identification of homozygous mutations in BBS patients. The identification of BBS9 illustrates the power of using a combination of comparative genomic analysis, gene expression studies, and homozygosity mapping with SNP arrays in small, consanguineous families for the identification of rare autosomal recessive disorders. We also demonstrate that small, consanguineous families are useful in identifying intragenic deletions. This type of mutation is likely to be underreported because of the difficulty of deletion detection in the heterozygous state by the mutation screening methods that are used in many studies.

Nishimura, Darryl Y.; Swiderski, Ruth E.; Searby, Charles C.; Berg, Erik M.; Ferguson, Amanda L.; Hennekam, Raoul; Merin, Saul; Weleber, Richard G.; Biesecker, Leslie G.; Stone, Edwin M.; Sheffield, Val C.

2005-01-01

21

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.  

PubMed

Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS genes representing all known mapped loci have been identified. Mutation analysis of the known BBS genes in BBS patients indicate that additional BBS genes exist and/or that unidentified mutations exist in the known genes. To identify new BBS genes, we performed homozygosity mapping of small, consanguineous BBS pedigrees, using moderately dense SNP arrays. A bioinformatics approach combining comparative genomic analysis and gene expression studies of a BBS-knockout mouse model was used to prioritize BBS candidate genes within the newly identified loci for mutation screening. By use of this strategy, parathyroid hormone-responsive gene B1 (B1) was found to be a novel BBS gene (BBS9), supported by the identification of homozygous mutations in BBS patients. The identification of BBS9 illustrates the power of using a combination of comparative genomic analysis, gene expression studies, and homozygosity mapping with SNP arrays in small, consanguineous families for the identification of rare autosomal recessive disorders. We also demonstrate that small, consanguineous families are useful in identifying intragenic deletions. This type of mutation is likely to be underreported because of the difficulty of deletion detection in the heterozygous state by the mutation screening methods that are used in many studies. PMID:16380913

Nishimura, Darryl Y; Swiderski, Ruth E; Searby, Charles C; Berg, Erik M; Ferguson, Amanda L; Hennekam, Raoul; Merin, Saul; Weleber, Richard G; Biesecker, Leslie G; Stone, Edwin M; Sheffield, Val C

2005-10-26

22

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function.  

PubMed

Bardet-Biedl syndrome (BBS) is characterized by obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies as well as hypertension and diabetes. The nine known BBS genes do not appear to belong to the same functional category; yet mutation of these genes results in a nearly identical pleiotropic phenotype. Although the precise functions of the BBS proteins have yet to be determined, current data support a role in cilia function and intraflagellar transport. To gain insight into the biological processes controlled by BBS genes, we embarked on studies of six BBS orthologues from zebrafish. Knockdown of zebrafish bbs2, bbs4, bbs5, bbs6, bbs7 or bbs8 results in disruption of Kupffer's vesicle (KV), a ciliated organ thought to play a role in left-right patterning. KV defects are due to a progressive loss of cilia within the vesicle and result in subsequent alterations to organ laterality. We also note a specific defect altering retrograde melanosome transport. These studies are the first to comprehensively compare the diverse group of BBS genes in parallel and demonstrate a common role in intracellular trafficking, indicating that BBS proteins are involved in general organelle trafficking. PMID:16399798

Yen, Hsan-Jan; Tayeh, Marwan K; Mullins, Robert F; Stone, Edwin M; Sheffield, Val C; Slusarski, Diane C

2006-01-06

23

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly  

Microsoft Academic Search

The functions of the proteins encoded by the Bardet-Biedl syndrome (BBS) genes are unknown. Mutations in these genes lead to the pleiotropic human disorder BBS, which is characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Secondary features include diabetes mellitus and hypertension. Recently, it has been suggested that the BBS phenotypes are the result of

Kirk Mykytyn; Robert F. Mullins; Michael Andrews; Annie P. Chiang; Ruth E. Swiderski; Baoli Yang; Terry Braun; Thomas Casavant; Edwin M. Stone; Val C. Sheffield

2004-01-01

24

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.  

PubMed

RAB, ADP-ribosylation factors (ARFs) and ARF-like (ARL) proteins belong to the Ras superfamily of small GTP-binding proteins and are essential for various membrane-associated intracellular trafficking processes. None of the approximately 50 known members of this family are linked to human disease. Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying Bardet-Biedl syndrome type 3, a multisystemic disorder characterized by obesity, blindness, polydactyly, renal abnormalities and cognitive impairment. We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins. Analysis of the Caenorhabditis elegans ARL6 homolog indicates that it is specifically expressed in ciliated cells, and that, in addition to the postulated cytoplasmic functions of ARL proteins, it undergoes intraflagellar transport. These findings implicate a small GTP-binding protein in ciliary transport and the pathogenesis of a pleiotropic disorder. PMID:15314642

Fan, Yanli; Esmail, Muneer A; Ansley, Stephen J; Blacque, Oliver E; Boroevich, Keith; Ross, Alison J; Moore, Susan J; Badano, Jose L; May-Simera, Helen; Compton, Deanna S; Green, Jane S; Lewis, Richard Alan; van Haelst, Mieke M; Parfrey, Patrick S; Baillie, David L; Beales, Philip L; Katsanis, Nicholas; Davidson, William S; Leroux, Michel R

2004-08-15

25

Hyperactive neuroendocrine secretion causes size, feeding, and metabolic defects of C. elegans Bardet-Biedl syndrome mutants.  

PubMed

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

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

2011-12-13

26

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

PubMed

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

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

2012-08-06

27

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

PubMed Central

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

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

2011-01-01

28

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.

2011-01-01

29

Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome  

PubMed Central

Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progressive retinal degeneration, obesity, cognitive impairment, polydactyly, and kidney anomalies. The disorder is genetically heterogeneous, with 11 BBS genes identified to date, which account for ?70% of affected families. We have combined single-nucleotide–polymorphism array homozygosity mapping with in silico analysis to identify a new BBS gene, BBS12. Patients from two Gypsy families were homozygous and haploidentical in a 6-Mb region of chromosome 4q27. FLJ35630 was selected as a candidate gene, because it was predicted to encode a protein with similarity to members of the type II chaperonin superfamily, which includes BBS6 and BBS10. We found pathogenic mutations in both Gypsy families, as well as in 14 other families of various ethnic backgrounds, indicating that BBS12 accounts for ?5% of all BBS cases. BBS12 is vertebrate specific and, together with BBS6 and BBS10, defines a novel branch of the type II chaperonin superfamily. These three genes are characterized by unusually rapid evolution and are likely to perform ciliary functions specific to vertebrates that are important in the pathophysiology of the syndrome, and together they account for about one-third of the total BBS mutational load. Consistent with this notion, suppression of each family member in zebrafish yielded gastrulation-movement defects characteristic of other BBS morphants, whereas simultaneous suppression of all three members resulted in severely affected embryos, possibly hinting at partial functional redundancy within this protein family.

Stoetzel, Corinne; Muller, Jean; Laurier, Virginie; Davis, Erica E.; Zaghloul, Norann A.; Vicaire, Serge; Jacquelin, Cecile; Plewniak, Frederic; Leitch, Carmen C.; Sarda, Pierre; Hamel, Christian; de Ravel, Thomy J. L.; Lewis, Richard Alan; Friederich, Evelyne; Thibault, Christelle; Danse, Jean-Marc; Verloes, Alain; Bonneau, Dominique; Katsanis, Nicholas; Poch, Olivier; Mandel, Jean-Louis; Dollfus, Helene

2007-01-01

30

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

PubMed Central

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

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

2011-01-01

31

The Cloning and Developmental Expression of Unconventional Myosin IXA (MYO9A) a Gene in the Bardet–Biedl Syndrome (BBS4) Region at Chromosome 15q22–q23  

Microsoft Academic Search

Bardet–Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and\\/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci. Using a positional cloning approach for identifying the BBS4 (chromosome 15) gene, we identified and cloned an unconventional myosin gene, myosin IXA (HGMW-approved symbol MYO9A). Since

Susan W. Gorman; Neena B. Haider; Uta Grieshammer; Ruth E. Swiderski; Esther Kim; Juliet W. Welch; Charles Searby; Song Leng; Rivka Carmi; Val C. Sheffield; David M. Duhl

1999-01-01

32

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

PubMed

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

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

2013-04-09

33

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.

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

34

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

35

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression  

Microsoft Academic Search

BBS4 is one of several proteins that cause Bardet-Biedl syndrome (BBS), a multisystemic disorder of genetic and clinical complexity. Here we show that BBS4 localizes to the centriolar satellites of centrosomes and basal bodies of primary cilia, where it functions as an adaptor of the p150glued subunit of the dynein transport machinery to recruit PCM1 (pericentriolar material 1 protein) and

Jun Chul Kim; Jose L Badano; Sonja Sibold; Muneer A Esmail; Josephine Hill; Bethan E Hoskins; Carmen C Leitch; Kerrie Venner; Stephen J Ansley; Alison J Ross; Philip L Beales; Michel R Leroux; Nicholas Katsanis

2004-01-01

36

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 ...

37

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

38

Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes.  

PubMed

Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis. Clinically, the disorder is closely related to Bardet-Biedl syndrome. Few cases have been reported, most of them before 1970. We present clinical data on three mentally retarded sporadic cases with coloboma, obesity, and hypogenitalism (in two of them), fitting as first glance a diagnosis of BS2. A review documents striking clinical variability among the patients said to have BS2. We propose a new nosology of those cases and delineate several new clinical forms. Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong. (4) cytogenetically proven Rubinstein-Taybi syndrome (one case), (5) an unclassifiable, early lethal familial syndrome resembling Buntinx-Majewski syndrome, and (6) a "new" coloboma-zygodactyly-clefting syndrome. The latter two syndromes may result from chromosomal anomaly. PMID:9098485

Verloes, A; Temple, I K; Bonnet, S; Bottani, A

1997-04-14

39

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

PubMed

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

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

2009-07-31

40

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

PubMed Central

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

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

2009-01-01

41

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

42

Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies.  

PubMed

We report a case of a 2 year-old boy with Joubert Syndrome and Related Disorders (JSRD), severe congenital aortic stenosis, bicuspid aortic valve and an atrial septal defect. JSRD is one of a group of conditions known as 'ciliopathies', whose multi-organ involvement results from primary cilia dysfunction. To date, there have been no other reported cases of aortic stenosis and bicuspid aortic valve associated with JSRD. Cardiac screening is not currently recommended in the management guidelines for individuals suspected of having JSRD. We speculate that while the presence of congenital aortic stenosis in this child could be caused by an unrelated genetic mechanism, it could also represent a phenotypic overlap with another ciliopathy, Bardet Biedl syndrome, in which aortic stenosis is more commonly reported. We also review the range of cardiac malformations reported to be present in all human diseases known to be ciliopathies, in order to assist with the investigation and management of individuals with a suspected or proven ciliopathy. PMID:22910529

Karp, Natalya; Grosse-Wortmann, Lars; Bowdin, Sarah

2012-08-03

43

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

PubMed

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

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

2007-08-01

44

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

ClinicalTrials.gov

Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

2013-06-30

45

Joubert syndrome and related disorders.  

PubMed

Joubert syndrome (JS) is a rare autosomal recessive condition characterized by a peculiar midbrain-hindbrain malformation, known as the molar tooth sign (MTS). The neurological presentation of JS includes hypotonia that evolves into ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys, and liver, defining a group of conditions termed Joubert syndrome and related disorders (JSRDs), that share the MTS. To date, 16 causative genes have been identified, all encoding for proteins expressed in the primary cilium or its apparatus. Indeed, JSRD present clinical and genetic overlap with a growing field of disorders due to mutations in ciliary proteins, that are collectively known as "ciliopathies." These include isolated nephronophthisis, Senior-Løken syndrome, Bardet-Biedl syndrome and, in particular, Meckel syndrome, which is allelic at JSRD at seven distinct loci. Significant genotype-phenotype correlates are emerging between specific clinical presentations and mutations in JSRD genes, with relevant implications in terms of molecular diagnosis, clinical follow-up, and management of mutated patients. Moreover, the identification of mutations allows early prenatal diagnosis in couples at risk, while fetal neuroimaging may remain uninformative until the late second trimester of pregnancy. PMID:23622411

Valente, Enza Maria; Dallapiccola, Bruno; Bertini, Enrico

2013-01-01

46

Alstr?m Syndrome: Genetics and Clinical Overview  

PubMed Central

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

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

2011-01-01

47

Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1  

PubMed Central

Ciliopathies are caused by mutations in genes encoding proteins required for cilia organization or function. We show through colocalization with PCM-1, that OFD1 (the product of the gene mutated in oral-facial-digital syndrome 1) as well as BBS4 and CEP290 (proteins encoded by other ciliopathy genes) are primarily components of centriolar satellites, the particles surrounding centrosomes and basal bodies. RNA interference experiments reveal that satellite integrity is mutually dependent upon each of these proteins. Upon satellite dispersal, through mitosis or forced microtubule depolymerization, OFD1 and CEP290 remain centrosomal, whereas BBS4 and PCM-1 do not. OFD1 interacts via its fifth coiled-coil motif with the N-terminal coiled-coil domain of PCM-1, which itself interacts via its C-terminal non-coiled-coil region with BBS4. OFD1 localization to satellites requires its N-terminal region, encompassing the LisH motif, whereas expression of OFD1 C-terminal constructs causes PCM-1 and CEP290 mislocalization. Moreover, in embryonic zebrafish, OFD1 and BBS4 functionally synergize, determining morphogenesis. Our observation that satellites are assembly points for several mutually dependent ciliopathy proteins provides a further possible explanation as to why the clinical spectrum of OFD1, Bardet–Biedl and Joubert syndromes overlap. Furthermore, definition of how OFD1 and PCM-1 interact helps explain why different OFD1 mutations lead to clinically variable phenotypes.

Lopes, Carla A. M.; Prosser, Suzanna L.; Romio, Leila; Hirst, Robert A.; O'Callaghan, Chris; Woolf, Adrian S.; Fry, Andrew M.

2011-01-01

48

Clinical and Molecular Investigations Into Ciliopathies  

ClinicalTrials.gov

Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

2013-05-01

49

Schmidt's syndrome - Case report  

PubMed Central

When immune dysfunction affects two or more endocrine glands and other non-endocrine immune disorders are present, the polyglandular autoimmune (PGA) syndromes should be considered. The PGA syndromes are classified as two main types: PGA type I and PGA type II. We are reporting this case in which a patient had primary adrenal insufficiency, autoimmune hypothyroidism and insulin dependent diabetes mellitus and was diagnosed as "Schmidt's syndrome" (PGA type II). This syndrome is a very rare autoimmune disorder and difficult to diagnose because the symptoms of this syndrome depends on the gland which gets involved first. Our patient was treated and improved with corticosteroid, thyroxine and insulin therapy.

Gupta, Amit Narayan; Nagri, Shivashankara Kaniyoor

2012-01-01

50

[Chilaidity syndrome. Case report].  

PubMed

Chilaidity syndrome is a mal position by bowel mal rotation o malfissation. It is more common in right side expecially in obese people. If asyimptomatic, the syndrome is an occasional comparison by radiology, surgical exploration by laparoscopy or autopsy, otherwise, if symptomatic, there are obstructive symptoms,abdominal pain, nausea, vomiting, abdominal distension, flatulence, breath, constipation and anorexia. Diagnosis is radiological. We present a rare case of this syndrome in a man with serious obstructive symptoms. PMID:22462337

Candela, Stefano; Candela, Giancarlo; Di Libero, Lorenzo; Argano, Francesco; Romano, Ornella; Iannella, Iolanda

51

Goldenhar's syndrome: case report.  

PubMed

A case of Goldenhar's Syndrome (oculoauriculovertebral dysplasia) in a 3-day-old Nigerian neonate with right anophthalmos and lipodermoid, left limbal dermoid, bilateral preauricular appendages and mandibular hypoplasia is presented. The lipodermoid was attached to the tarsal conjunctiva of the lower lid of the anophthalmic side. The causative factor was presumably maternal drug (traditional medicine) ingestion at three months gestation. No similar case has been reported previously. The literature on Goldenhar's Syndrome is briefly reviewed. PMID:12625694

Adeoye, A O

2002-09-01

52

Cockayne's syndrome: case report  

Microsoft Academic Search

The clinical features in a new non-familial case of Cockayne's syndrome comprised the usual components: dwarfism with microcephaly, severe mental subnormality, progeria-like appearance of the face, pigmented retinopathy, and severe perceptive deafness. The patient also suffered from grand mal epilepsy and died in status epilepticus at the age of 22 years. The neuropathological findings were severe microencephaly, widespread calcifying vasopathy

L. Crome; G. C. Kanjilal

1971-01-01

53

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.

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

2010-01-01

54

Noonan syndrome: a case report.  

PubMed

In 1930 Ullrich and in 1938 Turner described females with a syndrome of short stature, sexual infantilism and a pattern of characteristic minor anomalies including pterygium colli. This syndrome named initially as the Urlich-Turner syndrome, was later called Noonan syndrome. It was later shown that the Ullrich-Turner Syndrome (UTS) is caused by monosomy X or a structural abnormality of the second X-chromosome. Presented here is a case of Noonan Syndrome in a four and half year old boy. PMID:11692827

Nirmal, T; Muthu, M S; Arranganal, P

2001-06-01

55

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

PubMed Central

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

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

2012-01-01

56

Marfan syndrome: a case report.  

PubMed

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

Ganesh, Rajendran; Vijayakumar, Rajendran; Selvakumar, Haridoss

2012-12-04

57

Goldenhar's syndrome: case report  

Microsoft Academic Search

Goldenhar's syndrome is a rare condition described initially in the early 1950's. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo- vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The etiology of this rare disease is

Antônio Luiz; Barbosa PINHEIRO; Luciana Cavalcanti ARAÚJO; Suely Baptista OLIVEIRA; Maria Carmeli

2003-01-01

58

Gradenigo syndrome: A case report  

Microsoft Academic Search

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

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

1993-01-01

59

[Erasmus syndrome: case report].  

PubMed

Erasmus' syndrome involves the association of systemic scleroderma and exposure to silica particles with or without silicosis. The authors report the observation of a miner with a history of professional silicosis resulting in pulmonary fibrosis. Twenty-five years later, the patient consulted for dysphagia associated with inflammatory arthralgia, cutaneous sclerosis extended to the face and limbs, sclerodactyly and Raynaud's phenomenon. The diagnosis of scleroderma was confirmed and Erasmus' syndrome was retained. PMID:19306779

Ajlani, H; Meddeb, N; Sahli, H; Sellami, S

2009-01-06

60

Kounis syndrome: two extraordinary cases.  

PubMed

Acute myocardial infarction occurring during the course of an allergic reaction constitutes the Kounis syndrome. This syndrome is caused by inflammatory mediators released mainly from activated mast cells and the interrelated via bidirectional stimuli macrophages and T-lymphocytes. Since activated mast cells abound at the areas of plaque erosion or rupture in patients suffering from acute myocardial infarction a common pathway between allergic and non allergic coronary events seems to exist. Two cases of this syndrome are described, the first following nicorette transdermal application and subsequent finger pricking by fish bone and the second after ciprofloxacin administration. PMID:19203807

Almpanis, George; Siahos, Simos; Karogiannis, Nicholas C; Mazarakis, Andreas; Niarchos, Constantinos; Kounis, George N; Kounis, Nicholas G

2009-02-08

61

Glucagonoma syndrome: a case report  

PubMed Central

Introduction Glucagonoma syndrome is a rare paraneoplastic phenomenon, with an estimated incidence of one in 20 million, characterized by necrolytic migratory erythema, hyperglucagonemia, diabetes mellitus, anemia, weight loss, glossitis, cheilitis, steatorrhea, diarrhea, venous thrombosis and neuropsychiatric disturbances in the setting of a glucagon-producing alpha-cell tumor of the pancreas. Necrolytic migratory erythema is the presenting manifestation in the majority of cases, so its early suspicion and correct diagnosis is a key factor in the management of the patient. Case presentation We present the case of a 70-year-old Caucasian woman with glucagonoma syndrome due to an alpha-cell tumor located in the tail of the pancreas, successfully treated with surgical resection. Conclusion Clinicians should be aware of the unusual initial manifestations of glucagonoma. Early diagnosis allows complete surgical resection of the neoplasm and provides the only chance of a cure.

2011-01-01

62

A case of rapunzel syndrome.  

PubMed

Rapunzel syndrome refers to a very rare condition in which swallowed hair forms a gastric trichobezoar that has a long tail extending into the small bowel. We describe a case of Rapunzel syndrome in an 8-year-old girl who presented with abdominal mass, epigastric pain and vomiting. Abdominal computed tomography scan showed a markedly dilated stomach filled with coarse heterogeneous materials. Upper gastrointestinal endoscopy revealed a huge hairy ball with a tail extending through the pylorus. We performed a surgical laparotomy and successfully removed a huge trichobezoar with a long tail extending into the middle portion of jejunum. Psychiatric consultation with review showed her past history of trichotillomania and trichophagia 4 years ago. But her parents denied further psychiatric therapy and she was lost to the follow-up. Rapunzel syndrome should be included in the differential diagnosis in children with chronic abdominal pain and trichophagia. PMID:24010117

Kim, Joon Sung; Nam, Chang Woo

2013-06-30

63

[Moebius syndrome. Clinical case report].  

PubMed

Background: Moebius syndrome (MBS) is an infrequent disease, having an incidence of 1 in 10,000 births, mainly characterized by a congenital bilateral facial paralysis due to an agenesia of the sixth and seventh cranial nerves. In addition, orofacial and limb anomalies are frequently found in these patients. The diagnosis is fundamentally based on different clinical manifestations of the disorder. Clinical case: a female newborn with the clinical picture of Moebius syndrome is presented, and genetic or environmental aspects are discussed. Since the use of misoprostol for abortion and inducing uterine activity in combination with NSAIDs, the number of newborns with MBS associated with this drug has increased. Nowadays, either genetic or environmental factors are associated with MBS. Conclusions: it is necessary that the general and medical community be aware of the risk of teratogenic effects of misoprostol, and the usefulness of genetic counseling whenever there is a newborn with Moebius syndrome. PMID:24144154

Palmer-Morales, Yusvisaret; Zárate-Márquez, Rosario Elena; Prince-Vélez, Roberto; González-Méndez, Roberto; Zamarripa-Sandoval, Thania Ayerim; Verdugo-Salazar, Nahim; Torres-Félix, Victor Gabriel; Salcido-Daniel, Remigio; Valdez-Hernández, Pedro; Morfín-Vela, Andrés

64

[A case of Lemierre syndrome].  

PubMed

Classic Lemierre syndrome is a septic internal jugular venous thrombophlebitis secondary to oropharyngeal anaerobic infection in adolescents and young adults. Upper respiratory tract infection is the most common antecedent. We report a case of Lemierre syndrome as a rare infectious disease. A 20-year-old man complained of high fever, right neck discomfort and chest pain. Chest X-ray revealed infiltrative shadows, suggesting bacterial pneumonia. Although cefcapene pivoxil hydrochloride hydrate (CFPN-PI) was given in a local clinic, his symptoms did not improve. Then he was referred to our hospital. Chest CT findings showed bilateral multiple nodular shadows with small cavities, suggesting septic embolization. Fusobacterium necrophorum was cultured from specimen of the blood, and an enhanced neck CT scan showed thrombosis in the right internal jugular vein. These findings led us to a diagnosis of Lemierre syndrome. Four weeks of antibiotics and anticoagulants ameliorated inflammatory findings in blood, but internal jugular vein thrombosis remained. Currently, there is no consensus opinion on the use of anticoagulation in patients with Lemierre syndrome complicated by septic internal jugular thrombosis and embolism. Early and effective antibiotics therapy may prevent the development of the syndrome and its associated complication, although it is unclear whether the outcome will be favorable. PMID:21735747

Naito, Akira; Jujo, Takayuki; Kuroda, Fuminobu; Kozono, Takaaki; Sakurai, Takayuki; Tatsumi, Koichiro

2011-06-01

65

Five cases of cyclical Cushing's syndrome  

Microsoft Academic Search

Reported cases of cyclical Cushing's syndrome are rare. Of 14 successive patients with Cushing's syndrome nine collected sequential urine samples for the estimation of cortisol:creatinine ratio. Five had cyclical Cushing's syndrome while two had considerable variation in urinary cortisol excretion without a cyclical pattern being established. Two of the five patients with a cyclical syndrome had paradoxical responses to dexamethasone.

A B Atkinson; A L Kennedy; D J Carson; D R Hadden; J A Weaver; B Sheridan

1985-01-01

66

Diogenes Syndrome: A Case Report  

PubMed Central

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

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

2013-01-01

67

Kousseff syndrome: A fifth case?  

SciTech Connect

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

Laux, R.A. [Foundation for Blood Research, Portland, ME (United States); Hamilton, W.; Pinette, M. [Maine Medical Center, Portland, ME (United States)] [and others

1994-09-01

68

A case of susac syndrome.  

PubMed

The purpose of this article is to report on the first known Korean case of Susac syndrome. An 18-year-old female came to our clinic reporting blurred vision of the left eye for 2 days. She also complained of decreased hearing with tinnitus of the right ear and mild headache. She was previously healthy and had no remarkable medical history. Best-corrected visual acuity was 20 / 50 in the left eye and 20 / 20 in the right eye. An axiomatic triad of ocular, cochlear, and neurologic involvement was observed in the patient. Fluorescein angiography showed branched retinal arterial occlusions in the left eye. A sudden right sensorineural hearing loss was observed on audimetry. Magnetic resonance images showed a hyperintense lesion in the white matter around the corpus callosum. The patient was treated with high doses of systemic corticosteroids, and no neuropsychological sequelae were observed. This is the first case report of Susac syndrome in Korea. In cases of retinal arterial occlusion with hearing loss or neuropsychological symptoms, Susac syndrome should be suspected. PMID:24082778

Cho, Han Joo; Kim, Chul Gu; Cho, Sung Won; Kim, Jong Woo

2013-09-10

69

A Case of Susac Syndrome  

PubMed Central

The purpose of this article is to report on the first known Korean case of Susac syndrome. An 18-year-old female came to our clinic reporting blurred vision of the left eye for 2 days. She also complained of decreased hearing with tinnitus of the right ear and mild headache. She was previously healthy and had no remarkable medical history. Best-corrected visual acuity was 20 / 50 in the left eye and 20 / 20 in the right eye. An axiomatic triad of ocular, cochlear, and neurologic involvement was observed in the patient. Fluorescein angiography showed branched retinal arterial occlusions in the left eye. A sudden right sensorineural hearing loss was observed on audimetry. Magnetic resonance images showed a hyperintense lesion in the white matter around the corpus callosum. The patient was treated with high doses of systemic corticosteroids, and no neuropsychological sequelae were observed. This is the first case report of Susac syndrome in Korea. In cases of retinal arterial occlusion with hearing loss or neuropsychological symptoms, Susac syndrome should be suspected.

Kim, Chul Gu; Cho, Sung Won; Kim, Jong Woo

2013-01-01

70

Gluteal compartment syndrome: a case report  

Microsoft Academic Search

INTRODUCTION: Gluteal compartment syndrome is a rare, often unrecognized syndrome that may manifest as renal failure, sepsis, and death. Delay in diagnosis can result in significant morbidity and possible mortality. We report a case of occult gluteal compartment syndrome causing unresolving rhabdomyolysis. CASE PRESENTATION: A 50-year-old Caucasian American man with history of chronic obstructive pulmonary disease was admitted status post

Nadia M Mustafa; Aerin Hyun; James S Kumar; Lalitha Yekkirala

2009-01-01

71

Potter's syndrome: a report of 5 cases.  

PubMed

Bilateral renal agenesis or Potter's Syndrome is an extremely rare congenital anomaly associated with oligohydramnios. The infants die off pulmonary hypoplasia. We herewith report five cases of Potter's Syndrome over a span of one year. PMID:16933729

Dhundiraj, Kurdukar Madhumita; Madhukar, Deshpande Nandkumar; Ambadasrao, Pandit Gopal; Wamanrao, Kamdi Shital; Prem, Zawar Meera

2006-04-01

72

SHORT RIB POLYDACTYLY SYNDROME: A CASE REPORT  

Microsoft Academic Search

Short rib polydactyly syndrome (SRPS) is a very rare congenital anomaly that is classified into four subtypes. It is an autosomal recessive inherited disease. We report a case of this syndrome without a previous family history of congenital defects.

F. Davari-Tanha; Z. Moinfar; M. Kaveh; S. Eftekhari; Z. Khalilpour

73

[Zieve's syndrome. A case report].  

PubMed

We report a case of Zieve's Syndrome that developed after an important alcohol consumption in a 32-yr-old female patient. She was admitted to the hospital with anorexia, asthenia and jaundice. Physical examination showed liver stigmata and hepatomegaly. Laboratory tests demonstrated increased aminotransferase levels, hyperbilirubinemia, hyperlipidemia and normocytic and normochromic anemia with dianocytes in peripheral blood smear. Ultrasonography showed a hyperechoic liver and a liver biopsy showed acute and chronic alcoholic liver disease. Clinical evolution was satisfactory and the therapy consisted of blood transfusion, parenteral fluids, B-complex vitamin and a fatty free diet. Jaundice, hyperlipidemia and haemolytic anemia define Zieve's Syndrome (Z.S.) There is a pathogenetic relationship among the clinical and biological phenomena in this syndrome, whose starter is an acute alcohol intake. Haemolysis is the distinctive feature with respect to the classical acute alcoholic hepatitis, and it is due to erythrocyte's metabolic and osmotic instability in relation to lipids abnormalities. Its clinical resolution precedes the normalization of serum lipids levels. Therapy is similar to that for acute alcoholic hepatitis although sometimes the anemia requires blood transfusion. PMID:8645520

Fernández Pérez, F J; Pallarés Manrique, H; Cabello Ramírez, M; Piñar Moreno, A L; Rebollo Bernárdez, J; Jiménez Sáenz, M; Herrerías Gutiérrez, J M

1996-03-01

74

A case of Lenz microphthalmia syndrome  

Microsoft Academic Search

Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dilatation of the lateral ventricles.

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

1997-01-01

75

Kartagener's syndrome: A case series  

PubMed Central

Kartagener's syndrome is a rare, autosomal recessive genetic ciliary disorder comprising the triad of situs inversus, chronic sinusitis, and bronchiectasis. The basic problem lies in the defective movement of cilia, leading to recurrent chest infections, ear/nose/throat symptoms, and infertility. We hereby report three unusual cases of this rare entity – an infertile male with azoospermia in whom Bochdalek's diaphragmatic hernia coexisted, another case of an infertile female, and a third of an infertile male with oligospermia. The need for a high index of suspicion to make an early diagnosis cannot be overemphasized in such patients so that wherever possible, options for timely treatment of infertility may be offered and unnecessary evaluation of symptoms is avoided.

Mishra, Mayank; Kumar, Naresh; Jaiswal, Ashish; Verma, Ajay K.; Kant, Surya

2012-01-01

76

[Atypical Werner syndrome: Atypical progeroid syndrome: A case report].  

PubMed

Progeria is a premature ageing syndrome. Werner Syndrome (WS) is a type of progeria in the adult which includes bilateral juvenile cataracts and cutaneous sclerodermiform changes; it is caused by a mutation if the WRN gene which codes a helicase, a DNA repair enzyme. A case is presented of a patient, a 12 year old girl, with characteristics of WS but with no identifiable mutation in the WRN gene, therefore it was classified as atypical Werner Syndrome (AWS). PMID:20452840

Barrios Sanjuanelo, A; Muñoz Otero, C

2010-05-10

77

Clouston Syndrome: First Case in Russia  

PubMed Central

Hidrotic ectodermal dysplasia type 2 (HED2) or Clouston syndrome (OMIM #129500) is a rare autosomal dominant genetic disorder which affects skin and its derivatives, characterized by the major triad of features: nail dystrophy, generalized hypotrichosis, and palmoplantar hyperkeratosis. Here we describe the first case of Clouston syndrome in Russia and the molecular genetic analysis of this case.

Marakhonov, AV; Skoblov, MYu; Galkina, VA; Zinchenko, RA

2012-01-01

78

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.

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

2012-01-01

79

[Resistant ovary syndrome. Case report].  

PubMed

Patients with primary amenorrhea, sexual infantilism and elevated pituitary gonadotropins are frequently diagnosed with hypogonadism hypergonadotropic and suspected ovarian failure, secondary to a chromosomal abnormality, intrinsic ovarian failure or altered receptors for gonadotropins, mainly FSH (ovarian resistance). We report the case of a 16-year-old, admitted to the endocrinology clinic for primary amenorrhea and lack of development of secondary sexual characteristics. A complete physical examination revealed: height of 1.58 m and 57 kg weight, with incipient breasts (Tanner I), sparse pubic and axillary hair (Tanner I). The ultrasound reported small uterus and ovaries. Laboratory studies reported high levels of FSH and LH, estradiol and testosterone levels before puberty, prolactin, TSH, T3 and T4 normal. Normal female karyotype. Diagnostic laparoscopy was performed which showed two ovarian slips; biopsy was taken and reported both abundant primordial follicles and spindle cell stroma without evidence of primary and antral follicles, which integrates the diagnosis of resistant ovary syndrome. PMID:21966839

Morgan Ortiz, Fred; Meza Mendoza, Cuauhtémoc; Beltrán Lugo, Isabel; Caballero Rodríguez, Beatriz; Contreras Soto, Juan Omar

2011-07-01

80

Lemierre Syndrome: A Case of Postanginal Sepsis  

PubMed Central

Lemierre syndrome is a rare disease that's characterized by internal jugular vein thrombosis and septic emboli. These symptoms typically develop after acute oropharyngeal infection by Fusobacterium necrophorum1). Although this syndrome is less frequently seen in modern times due to the availability of antibiotics, physicians must be aware of the syndrome in order to initiate prompt antibiotics therapy, including coverage of the anerobic organisms. We discuss here the case of an 18-year-old female with Lemierre syndrome and we review the relevant literature on this syndrome.

Seo, Young Tak; Kim, Ji Hoon; Ha, Byung Wook; Choi, Hyo Sun; Kim, Yong Tai; Ham, Young Hwan

2007-01-01

81

Two new cases with costello syndrome.  

PubMed

Costello syndrome (CS) was described in 1977 by Costello who reported two unrelated children with a new syndrome comprising short stature, redundant skin of the neck, palms, soles, and fingers, curly hair, papillomata around the mouth and nares, and mental retardation. Several additional cases have been reported since then. Herein we report two patients with Costello syndrome; one of these patients had associated mesenteric cyst. PMID:24021445

Aytekin, Sema; Alyamac, Gokcen

2013-08-15

82

Williams-Beuren's Syndrome: A Case Report  

PubMed Central

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.

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

2012-01-01

83

The Ohdo blepharophimosis syndrome: a third case.  

PubMed Central

A patient with a syndrome consisting of blepharophimosis, simple ears, hypoplastic teeth, developmental delay, and hypotonia is described. Previous case reports are reviewed and a differential diagnosis is described. Many of the features in the subject are similar to those described in two previous reports and they constitute a distinct syndrome. Images

Biesecker, L G

1991-01-01

84

Menkes syndrome: a case report.  

PubMed

Menkes syndrome is caused by mutation of ATP7A gene that encode copper-binding membrane protein localized to the trans-Golgi membrane. Mutation of this gene causes defective exportation of copper from the cell. Intracellular accumulation of copper does not reach the toxic state, as copper entering the body is trapped in the intestinal epithelium. Copper requiring enzymes are dysfunction and cause multisystemic manifestations. The authors report a Thai boy 8 months of age who had depigmentation and kinky hair at birth. He developed myoclonic jerk at 3 months of age. He had hypopigmentation of the skin, delayed development, hypotonia, pectus excurvatum, loose skin and joints. He had anemia, very low serum copper and ceruloplasmin. X-ray showed Wormian bone of skull, osteopenia of long bones and generalized brain atrophy. The presented case has similar clinical and laboratory findings to 2 previous reports by Songkla University and Siriraj Hospital. Treatment is not effective due to unavailability of copper- histidinate and the patient already had severe brain damage. Genetic counseling is important to prevent the next offspring. Biochemical and molecular diagnosis are available for confirmation and prenatal diagnosis, but these techniques have limitations in Thailand. PMID:16858971

Kamolsilp, Mahattana

2005-11-01

85

The Crouzan Syndrome-A Case Report  

PubMed Central

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

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

2013-01-01

86

Joubert syndrome: Report of a neonatal case  

PubMed Central

Joubert syndrome is an autosomal recessive disorder that is characterized by a variable combination of central nervous system, respiratory and eye anomalies. It is a syndrome with a variable phenotype: partial or complete absence of the cerebellar vermis is seen in all patients, while other cardinal findings include episodic tachypnea and apnea in the neonatal period, jerky eye movements, hypotonia, severe mental handicap, developmental delay, ataxia and impaired equilibrium. Even within sibships the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of Joubert syndrome. A case of Joubert syndrome in a newborn is reported and the importance of recognizing the syndrome in the neonatal period so that specific and effective supportive measures can be started as soon as possible is stressed.

Akcakus, Mustafa; Gunes, Tamer; Kumandas, Sefer; Kurtoglu, Selim; Coskun, Abdulhakim

2003-01-01

87

Silver-Russell Syndrome: A Case Report  

PubMed Central

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

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

2008-01-01

88

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.

Pavankumar, Kalwa

2010-01-01

89

Rapunzel syndrome—a case report  

Microsoft Academic Search

The gastric trichobezoars usually occur in young girls, often those with psychiatric disorders. Rarely these are known to extend from the stomach to the small intestine as a tail, when they are termed the Rapunzel syndrome. Until 1997, only 10 such cases have been reported in the literature. We report another case in which we could extract the trichobezoar by

Sham L Singla; K. N Rattan; Narender Kaushik; S. K Pandit

1999-01-01

90

Dorfman-chanarin syndrome: a case report.  

PubMed

An 8-year-old male child, diagnosed case of congenital ichthyosis presented with abdominal distension, hepatomegaly and pancytopenia. His peripheral blood and bone marrow showed clear punched out intracytoplasmic vacuolations in leucocytes (Jordans' anomaly). He had convergent strabismus, ectropion, blepharitis and genu valgum. He was diagnosed as a case of Dorfman-Chanarin syndrome. PMID:23450106

Methre, Seema T; Godbole, Ravibhushan R; Nayar, Priyanka S; Manchanda, Rumma V

2011-07-06

91

Stiff skin syndrome--case report.  

PubMed

Stiff skin syndrome is a rare scleroderma-like disorder of unknown etiology characterized by stone-hard indurations of skin, mild hypertrichosis and limited joint mobility. No effective treatment has yet been found. Exercises and rehabilitative therapy are important in maintaining the patient's quality of life. The authors present a case of a two-year-old boy with progressive skin hardening since he was eight-month old and secondary restricted joint mobility, diagnosed as Stiff skin syndrome. PMID:22068804

Amorim, Adriana Gutstein da Fonseca; Aidé, Marcia Kalil; Durães, Sandra Maria Barbosa; Rochael, Mayra Carrijo

92

VURD Syndrome: Report of Three Cases  

PubMed Central

Hoover and Duckett identified the relationship between valves, reflux, and dysplasia, commonly known as VURD (Posterior urethral valve, Unilateral vesicoureteral reflux, Renal dysplasia) syndrome. They noted preserved contralateral renal function in patients with unilateral reflux into a non-refluxing kidney. The proposed mechanism of this protection is that the refluxing collecting system acts as a pressure pop-off. Here we report three cases of VURD syndrome.

Nakagawa, Yoshikiyo; Sugita, Yoshifumi

2013-01-01

93

A Case of Classic Raymond Syndrome  

PubMed Central

Classic Raymond syndrome consists of ipsilateral abducens impairment, contralateral central facial paresis, and contralateral hemiparesis. However, subsequent clinical observations argued on the presentation of facial involvement. To validate this entity, we present a case of classic Raymond syndrome with contralateral facial paresis. A 50 year-old man experienced acute onset of horizontal diplopia, left mouth drooling and left-sided weakness. Neurological examination showed he had right abducens nerve palsy, left-sided paresis of the lower part of the face and limbs, and left hyperreflexia. A brain MRI showed a subacute infarct in the right mid-pons. The findings were consistent with those of classic Raymond syndrome. To date, only a few cases of Raymond syndrome, commonly without facial involvement, have been reported. Our case is a validation of classic Raymond syndrome with contralateral facial paresis. We propose the concept of two types of Raymond syndrome: (1) the classic type, which may be produced by a lesion in the mid-pons involving the ipsilateral abducens fascicle and undecussated corticofacial and corticospinal fibers; and (2) the common type, which may be produced by a lesion involving the ipsilateral abducens fascicle and undecussated corticospinal fibers but sparing the corticofacial fibers.

Zaorsky, Nicholas George; Luo, Jin Jun

2012-01-01

94

Rapunzel Syndrome: A Rare Postpartum Case  

PubMed Central

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

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

2013-01-01

95

An unusual case of Parinaud's syndrome.  

PubMed

A 25-year-old man presented with blurred vision, headache and dizziness. On questioning, there was also a history of a preceding diarrhoeal illness. Initial investigations were normal. However, after a week, he represented with a Parinaud's syndrome. In view of the preceding diarrhoea, the transient unsteadiness and the areflexia on examination, anti-GQ1b antibodies were requested. The resulting titre was positive confirming the suspected diagnosis of Miller Fisher syndrome. He responded to intravenous immunoglobulins with full resolution of his symptoms and signs. Although various unusual neuro-ophthalmological signs have been reported localising to the brainstem, to our knowledge, this is the first case report of Parinaud's syndrome being the presenting symptom of Miller Fisher syndrome. PMID:23175005

Mallia, Maria; Chircop, Charmaine; Aquilina, Josanne

2012-11-21

96

[Atypical Cogan's syndrome. Based on a case].  

PubMed

Cogan's syndrome is a systemic inflammatory disease that associates typical (interstitial keratitis) and atypical (such as anterior uveitis) ocular manifestations to vestibulo-auditory dysfunction. It has also a systemic vascular association of vasculitis type. We report a case of a 64 years old woman who presented an atypical form with anterior uveitis. PMID:15682920

Nandu, A; Salu, P; Caspers, L; Gordts, F; Sennesael, J

2004-01-01

97

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.

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

2013-01-01

98

A Rare Case of Vanishing Lung Syndrome  

PubMed Central

We describe here a rare case of Idiopathic Bullous Emphysema/Vanishing Lung Syndrome (VLS) in a 33-year-old male patient with a history of marijuana abuse who presents to the hospital with pleuritic chest pain thought to be due to pneumothorax based on the chest radiograph. This case emphasizes the need to obtain chest computed tomography in a relatively stable patient suspected of VLS to reduce the potential risk of overseeing a bronchopleural fistula.

Sood, Nidhi; Sood, Nikhil

2011-01-01

99

Sternocleidomastoid syndrome: a case study  

PubMed Central

This article presents a case study of a patient diagnosed with dysfunction of the sternocleidomastoid (SCM) muscle, a condition which can result in head and face pain, nausea, dizziness, coryza, and lacrimation. In this particular case, the SCM muscle had developed tightness and weakness with presence of multiple trigger points within both heads. A combination of passive and active treatments were utilized to successfully treat this condition.

Missaghi, Babak

2004-01-01

100

A rare case of the lenz syndrome.  

PubMed

We are reporting here, a case of the Lenz syndrome in a neonate who was brought to the Paediatric OPD, Kasturba Medical College Hospital, Attavar, Mangalore India, with the complaints of poor suckling since birth and abnormal facial features. Altogether, the characteristic congenital abnormal findings in Lenz syndrome, which comprise of microophthalmia, ear anomalies, microcephaly, skeletal and digital deformities, and urogenital malformations were observed, with an exception of a dental anomaly. Dental abnormalities were not pertinent, as the patient was a neonate. PMID:23543842

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

2013-02-01

101

Shushkakshipaka (dry eye syndrome): A case study  

PubMed Central

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

Dhiman, K. S.

2011-01-01

102

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.

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

2012-01-01

103

Stewart-Treves syndrome: a case report.  

PubMed

We present a case of chronic lymphoedema that progressed to Stewart-Treves syndrome in a 63-year-old woman with a previous modified radical mastectomy, associated lymph node dissection, chemotherapy and radiotherapy. While producing stabilisation of most cutaneous lesions initially, chemotherapeutic treatment of the angiosarcoma did not prevent subsequent metastasis and patient death. We urge vigilance and regular follow-up appointments for patients following a mastectomy with chronic lymphoedema to facilitate prevention or early treatment of this devastating syndrome. PMID:23838488

McKeown, D G; Boland, P J

2013-07-01

104

Two cases of isochromosome 18q syndrome.  

PubMed

Patients with isochromosome 18q, a rare cytogenetic abnormality, also reported as Edwards syndrome, is the second most common autosomal trisomy. However, the phenotypic features and survival of these patients are not uniform and depend upon the portion of chromosomes getting duplicated or deleted. The survival of these children may be longer, hence a good cytogenetic diagnosis is a must. Morphological characteristics of isochromosome 18q are not yet fully delineated because of the rarity of the cases and as most cases are aborted medically or terminate spontaneously. We report two cases of isochromosome 18q, one male aged two years old and the other a male aged eight months old, and review the literature on this rare syndrome. PMID:17453088

Pal, S; Siti, M I; Ankathil, R; Zilfalil, B A

2007-05-01

105

Brown's syndrome associated with Smith-Magenis syndrome: Case report.  

PubMed

Brown's syndrome is generally an isolated clinical condition. The authors observed a girl with a right Brown's syndrome and a rare condition due to an interstitial deletion of chromosome 17, known as Smith-Magenis syndrome. A wide spectrum of congenital disorders have been reported in Smith-Magenis syndrome, but never Brown's syndrome. PMID:21314509

Salati, R; Marini, G; Degiuli, A; Dalprà, L

1996-01-01

106

Longevity of a Woman With Down Syndrome: A Case Study  

Microsoft Academic Search

A case of a woman who is among the longest surviving people with Down Syndrome was described. The life expectancy of persons with Down syndrome has increased more than six-fold to 56 years since the turn of the century. The literature regarding life expectancy for persons with Down syndrome was reviewed, and the implications regarding Down syndrome and Alzheimer's disease

Brian Chicoine; Dennis McGuire

1997-01-01

107

[Waardenburg syndrome type I: case report].  

PubMed

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

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

108

A case of encephalocraniocutaneous lipomatosis syndrome with epilepsy (Haberland syndrome).  

PubMed

Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome characterized by scalp, facial, and ocular lesions and multiple intracranial malformations. Approximately 50 cases have been described in the literature. We report a 34-year-old woman with a 6-year history of epilepsy, without mental retardation, with predominantly ipsilateral skin lesions evident at birth, with limbal lipodermoid of the left eye and multiple non-progressive, ipsilateral intracranial structures of soft, cystic components. The described malformations are congenital, mostly unilaterally located and with similar lipomatous structure. PMID:20232658

Zahariev, Zahari Iv; Peycheva, Marieta V; Dobrev, Hristo P

109

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

PubMed

Hereditary retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different forms of RD can be caused by mutations in >100 genes, including >1600 exons. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. So far, NGS is not routinely used in gene diagnostics. We developed a diagnostic NGS pipeline to identify mutations in 170 genetically and clinically unselected RD patients. NGS was applied to 105 RD-associated genes. Underrepresented regions were examined by Sanger sequencing. The NGS approach was successfully established using cases with known sequence alterations. Depending on the initial clinical diagnosis, we identified likely causative mutations in 55% of retinitis pigmentosa and 80% of Bardet-Biedl or Usher syndrome cases. Seventy-one novel mutations in 40 genes were newly associated with RD. The genes USH2A, EYS, ABCA4, and RHO were more frequently affected than others. Occasionally, cases carried mutations in more than one RD-associated gene. In addition, we found possible dominant de-novo mutations in cases with sporadic RD, which implies consequences for counseling of patients and families. NGS-based mutation analyses are reliable and cost-efficient approaches in gene diagnostics of genetically heterogeneous diseases like RD.European Journal of Human Genetics advance online publication, 17 April 2013; doi:10.1038/ejhg.2013.72. PMID:23591405

Glöckle, Nicola; Kohl, Susanne; Mohr, Julia; Scheurenbrand, Tim; Sprecher, Andrea; Weisschuh, Nicole; Bernd, Antje; Rudolph, Günther; Schubach, Max; Poloschek, Charlotte; Zrenner, Eberhart; Biskup, Saskia; Berger, Wolfgang; Wissinger, Bernd; Neidhardt, John

2013-04-17

110

[Kearns-Sayre syndrome: a case report].  

PubMed

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

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

2012-09-12

111

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

112

The Youngest Case of Pervasive Refusal Syndrome?  

Microsoft Academic Search

To date, the youngest previously recorded case of pervasive refusal syndrome (PRS) was eight years old. A four-year-old Australian-born Chinese boy presented to a tertiary paediatric referral centre with a four-week history of food refusal and selective mutism; he was severely dehydrated and marasmic. During admission several behavioural problems were noted including: persistent refusal to eat or drink, obsessions with

Sharon Taylor; David R. Dossetor; Henry Kilham; Elizabeth Bernard

2000-01-01

113

[Kearns-Sayre syndrome: two case reports].  

PubMed

Two cases in which patients had progressive loss of visual acuity in four years and eight months respectively are described. Clinical examination revealed fundoscopic alterations of the retina, pigment epithelium and choriocapillaris showing marked atrophy. The clinical picture resembles Kearns-Sayre syndrome. Etiological investigation is fundamental, because most of time this condition is associated with more serious systemic complications which need specific care. PMID:19347131

Zago Filho, Luiz Alberto; Shiokawa, Naoye

114

A case report of Evans Syndrome.  

PubMed

Evans Syndrome (ES) is the rare simultaneous or subsequent development of immune thrombocytopenia purpura (ITP) and autoimmune hemolytic anemia (AIHA). It portends a poorer prognosis and a more aggressive line of management than either condition presenting alone. Here we report a case of a young female who presented with both bleeding and acute decompensated anemia. Although she was successfully treated, mystery still shrouds the etiology, pathophysiology, as well as line of management of this rare and enigmatic disease. PMID:23603626

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

115

Rare case of orofaciodigital syndrome type I.  

PubMed

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

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

2013-02-14

116

Proteus syndrome: A rare case report  

PubMed Central

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

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

2012-01-01

117

Bupropion Induced Serotonin Syndrome: A Case Report  

Microsoft Academic Search

Although there are no documented cases of serotonin syndrome (SS) following bupropion ingestion alone in the literature, the\\u000a ability of bupropion to potentiate serotonin levels and lead to SS is known. A 15-year-old boy was found at home hallucinating.\\u000a He then developed tonic–clonic activity. Upon arrival in the emergency department, he was confused and restless. On exam,\\u000a he had tachycardia,

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

2010-01-01

118

[Dress syndrome. A Clinical Case Report].  

PubMed

Background: DRESS syndrome (Drug Reaction with Eosinophilia and Systemic Symptoms) or reaction to drugs with eosinophilia and systemic symptoms is a serious drug reaction associated with the use of aromatic anticonvulsants and allopurinol. At least 44 drugs have been associated with DRESS. The aim was to present the case of a patient with DRESS syndrome associated with phenytoin. Clinical case: a 20 years old woman, with a history of seizures since childhood, presented generalised tonic-clonic seizures for the last three months. Therefore, she began treatment with 100 mg of phenytoin, administered orally, every 8 hours. Three weeks later, she developed fever up to 42 degrees, papules in the hands extending to trunk and extremities, generalized rubicund, pruritus, pain while urinating, adding hyperoxia, dysphagia and dry cough. Consequently, she went to the emergency room. Discussion: the diagnosis is clinical and it is set according to the criteria of the scale of RegiSCAR. As the initial manifestations are unspecific, the diagnosis and treatment could be delayed. The importance of recognizing this syndrome is an early treatment to get better prognostics. The mortality is up to 10 %. PMID:23883465

Muciño-Bermejo, Jimena; Díaz de León-Ponce, Manuel; Briones-Vega, Carlos Gabriel; Guerrero-Hernández, Antonio; Sandoval-Ayala, Oswaldo Israel; Sáenz-Coronado, Ana Gabriela; Briones-Garduño, Jesús Carlos

119

Neuroleptic malignant syndrome: case report and discussion  

PubMed Central

WE REPORT A CASE INVOLVING AN 81-YEAR-OLD man with schizoaffective disorder who presented with neuroleptic malignant syndrome (NMS) after an increase in his neuroleptic dose. NMS, a rare but potentially fatal complication of neuroleptic medications (e.g., antipsychotics, sedatives and antinauseants), is characterized by hyperthermia, muscle rigidity, an elevated creatine kinase level and autonomic instability. The syndrome often develops after a sudden increase in dosage of the neuroleptic medication or in states of dehydration. Treatment is mainly supportive and includes withdrawal of the neuroleptic medication and, possibly, administration of drugs such as dantrolene and bromocriptine. Complications of NMS include acute renal failure and acute respiratory failure. Given the widespread prescription of neuroleptics by physicians in a variety of fields, all physicians need to be able to recognize and appropriately manage NMS.

Chandran, Geethan J.; Mikler, John R.; Keegan, David L.

2003-01-01

120

Stylocarotid syndrome: An unusual case report.  

PubMed

Patients presenting with vague head and neck pain can lead to wide-ranging differential diagnosis. Elongation of styloid process (SP) should also be considered as one of the etiological factors for cervical pain radiating to jaws, pharyngodynia, and difficulty in swallowing. Symptomatic elongation of SP or mineralization of stylohyoid ligament is referred as Eagle's syndrome. It is a rare entity presenting with an array of symptoms like recurrent throat pain, dysphagia, otalgia, and neck pain. History and physical examination play a vital role in diagnosing this condition and further radiological investigation confirms the diagnosis. The preferred radiologic modality is 3D-computed tomography, which gives accurate information about length, angulation, type of elongation, and relation to vital structures and hence helps in execution of treatment planning. This paper describes clinical approach, imaging investigations, and management of a case of Eagle's syndrome. PMID:23633821

Sadaksharam, Jayachandran; Singh, Khushboo

2012-10-01

121

Rubinstein-Taybi Syndrome: A Case Report  

PubMed Central

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

Munevveroglu, A. P.; Akgol, B. B.

2012-01-01

122

[Verner-Morrison syndrome: a case study].  

PubMed

Verner and Morrison described a syndrome of watery diarrhea, hypokalemia, and achlorhydria (WDHA) in 1958. VIPomas producing high amounts of vasoactive intestinal peptide (VIP) commonly originate from the pancreas. Typical symptoms play a momentous role in the diagnosis of VIPoma. Diarrhea may persist for years before the diagnosis. Morbidity from untreated WDHA syndrome is associated with long-standing dehydration and with electrolyte and acid-base metabolism disorders, which may cause chronic renal failure. Assessment of specific marker (VIP) offers high sensitivity in establishing the diagnosis. Imaging modalities include endoscopic ultrasonography, computed tomography and magnetic resonance imaging, and particularly, scintigraphy with somatostatin analogues. Treatment options include resection of the tumor, chemotherapy or the reduction of symptoms with somatostatin analogues. Early diagnosis and management may affect survival of patients favorably. VIPoma cases may be associated with multiple endocrine neoplasia type 1. PMID:20558361

Halászlaki, Csaba; Horváth, Henrik; Kiss, Lajos; Takács, István; Speer, Gábor; Nagy, Zsolt; Winternitz, Tamás; Dabasi, Gabriella; Zalatnai, Attila; Patócs, Attila; Lakatos, Péter

2010-07-01

123

Neonatal Marfan Syndrome — A Case Report  

Microsoft Academic Search

Neonatal Marfan syndrome is a rare congenital abnormality with atypical features of Marfan syndrome at an early stage. Although, neonatal Marfan syndrome is part of Marfan syndrome, its higher morbidity and mortality rate within young children period are different from those of classic Marfan syndrome noted in older patients. Several diversities of family history, cardiovascular system and cause of death

Hsien-Yu Shih; Wan-Shiung Liu; Te-Jen Chen

124

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

PubMed

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

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

2012-11-18

125

Systemic capillary leak syndrome. Case report.  

PubMed

We here report the case of a patient with systemic capillary leak syndrome (SCLS). This syndrome is a rare condition characterized by recurrent episodes of hypotension with hemoconcentration and hypoproteinemia. It is due to unexplained episodic capillary hyperpermeabilty that results in fluid and protein shift from the intravascular to the interstitial space: generalized edema, shock and renal failure follow. A 59 yo man was admitted to our intensive care unit because of unexplained shock with hemoconcentration, renal failure, and metabolic acidosis. Previous attemps to reverse shock in a medical ward with crystalloids and dopamine failed. An abdominal CT scan, a TEE, and chest X ray study were inconclusive. No sign or history of major infections or anaphylaxis were present. The patient was resuscitated with massive fluid infusions and norepinephrine on the guide of a Swan Ganz catheter. The diagnosis was made on the basis of a previous episode of severe shock complicated with renal failure and a compartment syndrome, the hemoconcentration, and the negative cardiopulmonary findings. A small amount of monoclonal immunoglobulin G, kappa chain, found in the serum confirmed the diagnosis. The SCLS should be considered in the differential diagnosis of idiopathic and anaphylactic shock. Patients may benefit from a prophylactic treatment with theophilline and terbutaline. PMID:12586993

Sabbadini, D D; Peressutti, R; Di Silvestre, A; Lucchese, F; Margarit, O; Macor, D; Petrei, D; Salino, R; Rossi, P; Schiavon, I; Giordano, F

2002-12-01

126

Cotard's syndrome: analysis of 100 cases.  

PubMed

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

Berrios, G E; Luque, R

1995-03-01

127

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

128

Poland's syndrome with lung cancer. A case report.  

PubMed

Poland's syndrome, a rare congenital anomaly characterized by pectoralis muscle defect, has been reported in association with lymphoreticular malignancies and some solid tumors. Lung cancer associated with Poland's syndrome has not been previously described. We present the first report of a case of Poland's syndrome associated with lung cancer and demonstrate the CT findings. PMID:11016761

Ahn, M I; Park, S H; Park, Y H

2000-09-01

129

Poland's syndrome and carcinoma of the breast: a case report.  

PubMed

Poland's syndrome is a rare congenital anomaly that may include mammary hypoplasia and has been described in association with various malignancies. We report the case of a 42-year-old woman with unilateral Poland's syndrome who developed carcinoma in the hypoplastic breast. A review of the literature reveals no previous report of carcinoma of the hypoplastic breast with Poland's syndrome. PMID:11348417

Katz, S C; Hazen, A; Colen, S R; Roses, D F

130

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

131

Guillain-Barre syndrome: a case report  

PubMed Central

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

Pikula, John R

1995-01-01

132

Joubert syndrome: report of 11 cases.  

PubMed

Joubert syndrome (JS) is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. The 11 cases were searched according to their clinic, radiologic, and mutation analysis findings, according to which they were diagnosed as JS. Physical, neurological and fundus examinations were performed in all patients. Cerebral magnetic resonance imaging scan, abdominal ultrasonography, and if necessary, echocardiography were performed. CC2D2A and ARL13B mutations were analyzed in our 11 JS patients. The mean age was 31.09±37.49 months (range: 1 month - 10 years). Two of the cases were siblings. Nine of the cases had a history of episodic hyperpnea. The other findings were hypotonia, ataxia, psychomotor retardation, and nystagmus. In all patients, the "molar tooth sign" was observed with scanning methods. In addition, cerebellar cortical dysplasia was established in one of the cases. Macrocephaly (1 patient), multiple renal cysts (1 patient), ocular coloboma (2 patients), ptosis (1 patient), congenital heart disease (1 patient), polydactyly (2 patients), and congenital hip dislocation (2 patients) were also determined. We identified mutation (c.C4452T ? p.R1518W) in CC2D2A in two patients. JS can show heterogeneity clinically, neuroradiologically and genetically. Determination of the symptoms, early diagnosis and genetic consultation are the goals for decision-making to begin treatment and rehabilitation programs. PMID:23692786

Incecik, Faruk; Hergüner, M Ozlem; Altunba?ak, Sakir; Gleeson, Joseph G

133

The sensory cilia of Caenorhabditis elegans.  

PubMed

The non-motile cilium, once believed to be a vestigial cellular structure, is now increasingly associated with the ability of a wide variety of cells and organisms to sense their chemical and physical environments. With its limited number of sensory cilia and diverse behavioral repertoire, C. elegans has emerged as a powerful experimental system for studying how cilia are formed, function, and ultimately modulate complex behaviors. Here, we discuss the biogenesis, distribution, structures, composition and general functions of C. elegans cilia. We also briefly highlight how C. elegans is being used to provide molecular insights into various human ciliopathies, including Polycystic Kidney Disease and Bardet-Biedl Syndrome. PMID:18050505

Inglis, Peter N; Ou, Guangshuo; Leroux, Michel R; Scholey, Jonathan M

2007-03-08

134

An unusually severe case of the cast syndrome  

Microsoft Academic Search

A severe case of the cast syndrome is described following Harrington rod distraction and application of a body cast. The case was unusual as it presented late with no warning symptoms and progressed rapidly to death.

R. H. Kennedy; M. J. Cooper

1983-01-01

135

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.

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

2013-01-01

136

Exploding Head Syndrome: A Case Report  

PubMed Central

Introduction Exploding head syndrome (EHS) is a rare parasomnia in which affected individuals awaken from sleep with the sensation of a loud bang. The etiology is unknown, but other conditions including primary and secondary headache disorders and nocturnal seizures need to be excluded. Case Presentation A 57-year-old Indian male presented with four separate episodes of awakening from sleep at night after hearing a flashing sound on the right side of his head over the last 2 years. These events were described ‘as if there are explosions in my head’. A neurologic examination, imaging studies, and a polysomnogram ensued, and the results led to the diagnosis of EHS. Conclusion EHS is a benign, uncommon, predominately nocturnal disorder that is self-limited. No treatment is generally required. Reassurance to the patient is often all that is needed.

Ganguly, Gautam; Mridha, Banshari; Khan, Asif; Rison, Richard Alan

2013-01-01

137

[Middle aortic syndrome: a case report].  

PubMed

Middle aortic syndrome (MAS) results from a diffuse narrowing of the distal thoracic or abdominal aorta commonly involving both the visceral and renal arteries. Congenital, acquired, inflammatory, and infectious etiologies have been described. Symptoms typically occur within the first three decades of life and include hypertension, lower extremity claudication, and mesenteric ischemia. The condition is considered a life-threatening emergency as a result of the complications associated with severe hypertension. Diagnosis is made with magnetic resonance and computed tomography angiography. Surgical bypass grafting is the optimal method of treatment and must be tailored depending on the distribution of disease. We report one case of MAS treated with thoracic aorta to abdominal aorta bypass and reimplantation of the right renal artery. PMID:18096129

Taberkant, M; Madani, M; Chtata, H; Drissi, M; Mahi, M; Elkirat, A

2007-11-12

138

[Mucopolysaccharidosis I, Hurler syndrome: a case report].  

PubMed

Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme a-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall incidence of MPS I is 0.99-1.99/100.000 live births. There are three clinical presentations: Hurler (severe), Hurler Scheie (mild) and Scheie (mild). We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth. After enzyme replacement therapy the patient has shown improvement of visceral symptoms, but the neurological damage continuous in progress. PMID:23070190

Amorín, Milagros; Carlin, Andrea; Prötzel, Ana

2012-10-01

139

[Ogilvie syndrome. Report of two cases].  

PubMed

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

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

140

Rituximab for refractory cases of childhood nephrotic syndrome  

Microsoft Academic Search

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

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

2011-01-01

141

CPPD Crowned Dens Syndrome with clivus destruction: A case report  

PubMed Central

We report a case of CPPD crowned dens syndrome in an 87 year white old male with a known history of pseudogout, with clinical and radiological features characteristic of this syndrome. Interestingly, there was significant mass effect on the clivus, with clivus erosion and destruction, a finding that has not previously been described with this syndrome. The clinical and radiological characteristics of Crowned Dens syndrome, as well as CPPD are reviewed. We suggest that CPPD crowned dens syndrome may be included in the differential diagnosis when clivus destruction or erosion, in association with a soft tissue mass with calcification, is seen.

Ali, Sayed; Hoch, Michael; Dadhania, Vipulkumar; Khurana, Jasvir S.

2011-01-01

142

CPPD crowned dens syndrome with clivus destruction: a case report.  

PubMed

We report a case of CPPD crowned dens syndrome in an 87 year white old male with a known history of pseudogout, with clinical and radiological features characteristic of this syndrome. Interestingly, there was significant mass effect on the clivus, with clivus erosion and destruction, a finding that has not previously been described with this syndrome. The clinical and radiological characteristics of Crowned Dens syndrome, as well as CPPD are reviewed. We suggest that CPPD crowned dens syndrome may be included in the differential diagnosis when clivus destruction or erosion, in association with a soft tissue mass with calcification, is seen. PMID:22470810

Ali, Sayed; Hoch, Michael; Dadhania, Vipulkumar; Khurana, Jasvir S

2011-08-01

143

Chronic Fatigue Syndrome: A Working Case Definition  

Microsoft Academic Search

The chronic Epstein-Barr virus syndrome is a poorly defined symptom complex characterized primarily by chronic or recurrent debilitating fatigue and various combinations of other symptoms, including sore throat, lymph node pain and tenderness, headache, myalgia, and arthralgias. Although the syndrome has received recent attention, and has been diagnosed in many patients, the chronic Epstein-Barr virus syndrome has not been defined

GARY P. HOLMES; JONATHAN E. KAPLAN; NELSON M. GANTZ; ANTHONY L KOMAROFF; LAWRENCE B. SCHONBERGER; STEPHEN E. STRAUS; JAMES F. JONES; RICHARD E. DUBOIS; CHARLOTTE CUNNINGHAM-RUNDLES; SAVITA PAHWA; GIOVANNA TOSATO; LEONARD S. ZEGANS; DAVID T. PURTILO; NATHANIEL BROWN; ROBERT T. SCHOOLEY; IRENA BRUS; Georgia Atlanta

1988-01-01

144

[Goldenhar syndrome. Report of a new case].  

PubMed

Authors present a patient with Goldenhar's syndrome, with severe cardiac, vascular and brain malformations. Goldenhar's syndrome is a condition characterized by epibulbar dermoids or lipodermoid , malformation auricular, and vertebral anomalies. Many other abnormalities have been described, but these signs are the most constant and give the syndrome its' identity. PMID:6732067

Pedraz García, C; Benito Zaballos, M F; García González, P; Carbajosa Herrero, T; Heras de Pedro, M; Santos Borbujo, J; Gil Sánchez, A; Salazar Villalobos, V

1984-03-15

145

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

146

Postpartum HELLP syndrome--the case of lost battle  

PubMed Central

Unexpected rapid maternal death after delivery due to HELLP syndrome is rarely encountered and may become the subject of forensic expertise. Unexpectedness, suddenness, and fulminant course of this syndrome as well as absence of classical signs of pre-eclampsia can confuse physicians and lead to diagnostic delay. A definitive post-mortem diagnosis of HELLP syndrome in questionable cases of maternal death should be based on accepted laboratory criteria and characteristic histopathological alterations. We present a case of acute postpartum HELLP syndrome complicated by disseminated intravascular coagulation and acute renal failure which caused rapid maternal death only 20 hours after a caesarean section following an uncomplicated pregnancy.

Antic, Vladimir; Kopitovic, Vesna; Popovic, Jasmina; Trenkic, Milan; Vacic, Nikola

2013-01-01

147

Bupropion induced serotonin syndrome: a case report.  

PubMed

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

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

2010-06-01

148

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.

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

1995-01-01

149

Zimmermann-Laband syndrome: a case report.  

PubMed

Zimmermann-Laband syndrome is a very rare disorder characterized by gingival fibromatosis, abnormalities of soft cartilages of the nose and/or ears, hypoplastic or absent nails and terminal phalanges, joint hypermobility, hypatoslenomegaly, mild hirsutism and learning difficulties. Early presentation of Zimmermann-Laband syndrome in a newborn has rarely been described. This paper describes a newborn patient with Zimmermann-Laband syndrome. PMID:22838235

Sawaki, K; Mishima, K; Sato, A; Goda, Y; Osugi, A; Nakano, M

2012-01-01

150

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

2012-02-13

151

Lemierre's syndrome and genetic polymorphisms: a case report  

Microsoft Academic Search

BACKGROUND: Lemierre's syndrome presents a classic clinical picture, the pathophysiology of which remains obscure. Attempts have been made to trace genetic predispositions that modify the host detection of pathogen or the resultant systemic reaction. CASE PRESENTATION: A 17-year old female, with no previous medical history, was admitted to the intensive care unit for septic shock, acute respiratory distress syndrome and

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

2006-01-01

152

Noonan's Syndrome; Report of a Case with Oral Findings.  

National Technical Information Service (NTIS)

A case of Noonan's syndrome in a 6-year-old boy is presented in which xanthomas of the skin and tongue were an additional, not previously reported, finding. The other syndromal stigmata are essentially those reported by Noonan and others in the literature...

J. F. Nelson P. J. Tsaknis J. L. Konzelman

1977-01-01

153

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

154

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

Microsoft Academic Search

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

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

2008-01-01

155

CASE REPORT: Ovarian Hyperstimulation Syndrome Complicating a Spontaneous Singleton Pregnancy: A Case Report  

Microsoft Academic Search

It has been known that most cases of ovarian hyperstimulation syndrome (OHSS) are associated with the use of exogenous gonadotropins to induce multiple ovulation. However, OHSS is infrequently associated with a spontaneous ovulatory cycle, usually in the case of multiple gestations, hypothyroidism, or polycystic ovarian syndrome. We report a case of severe OHSS in a spontaneously pregnant woman with no

Hee-Dong Chae; Eun-Joo Park; Sung-Hoon Kim; Chung-Hoon Kim; Byung-Moon Kang; Yoon Seok Chang

2001-01-01

156

A Case Report of Reiter's Syndrome with Progressive Myelopathy  

PubMed Central

Reiter's syndrome belongs to the family of spondyloarthropathies that usually present with a triad of arthritis, urethritis, and uveitis. The diagnostic criteria include clinical, radiological, and genetic findings, and the response to treatment. Nervous system involvement in Reiter's syndrome is extremely rare. We report here on a 36-year-old man who initially presented with progressive cervical myelopathy and was diagnosed as Reiter's syndrome 2 years later. The myelopathy was stable after treatment with methotrexate and sulfasalazine. This case suggests that Reiter's syndrome can present as progressive myelopathy and should be considered in the differential diagnosis of treatable myelopathies.

Kim, Soo Kyoung; An, Jae Young; Park, Min Soo

2007-01-01

157

[Gynandroblastoma and Fragile X syndrome. Case report].  

PubMed

Gynandroblastoma is a rare ovarian tumor, derived sex cord-stromal, malignant, with low scalable potential. Clinical investigations include endocrinology or gynecological troubles, or pelvic mass syndrome. After pelvic MRI of reference, optimum surgery is the treatment of gynandroblastoma. Fragile X syndrome is the most common inherited cause of mental retardation, and females are more affected. Association of both is totally new. PMID:21354848

Lejeune, J; Gallon, F; Quirin, I; Grignon, Y

2011-02-26

158

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

PubMed

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

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

2012-09-01

159

A case of diabetes mellitus associated with Rett syndrome.  

PubMed

Rett syndrome (RS) is a neurodevelopmental disorder mainly affecting girls. It is characterized by a normal prenatal and perinatal period, apparently normal development for the first 6 months of life, and then a decelaration in head growth, loss of hand and communication skills, psychomotor retardation, as well as the development of sterotyped hand movement and truncal or gait apraxia. It has been shown to be related to mutations in the MECP2 gene located on Xq28. Diabetes mellitus (DM) type 1 may be associated with certain genetic disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. In this work, we report the case of a 9-year-old girl with RS who developed DM at the age of 6. To our knowledge, our patient is the third case reported to date of DM associated with Rett syndrome. PMID:22570976

Akin, Leyla; Adal, Erdal; Akin, Mustafa Ali; Kurtoglu, Selim

2012-01-01

160

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

PubMed

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

Kotsev, Strahil

2011-07-01

161

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

PubMed Central

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

Kotsev, Strahil

2011-01-01

162

A case of amniotic band syndrome with bilateral epibulbar choristoma.  

PubMed Central

An autopsy case of amniotic band syndrome with bilateral epibulbar choristoma is described. The left eye reveals a complex choristoma and the right eye a dermis-like choristoma. Both choristomatous lesions included lenticular tissue suggesting that rupture of the amnion, which is the initial event of amniotic band syndrome, might have occurred at about the fourth week of gestation. Since the other systemic manifestations of amniotic band syndrome are considered to be compression deformities of the fetus caused by oligohydramnios or amniotic band, the occurrence of epibulbar choristomas in both eyes in this case suggests that a compression mechanism may play a role in the pathogenesis of epibulbar choristoma. Images

Murata, T; Hashimoto, S; Ishibashi, T; Inomata, H; Sueishi, K

1992-01-01

163

Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report  

PubMed Central

Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

2011-01-01

164

The POEMS syndrome: Report of six cases  

Microsoft Academic Search

We report six patients affected by POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, and Skin changes), a peculiar multiorgan disease frequently associated with osteosclerotic myeloma or other plasma cell disorders.

D. Pareyson; R. Marazzi; P. Confalonieri; G. L. Mancardi; A. Sghirlanzoni

1994-01-01

165

Chronic Fatigue Syndrome: A Working Case Definition.  

National Technical Information Service (NTIS)

The chronic Epstein-Barr virus syndrome is a poorly defined symptom complex characterized primarily by chronic or recurrent debilitating fatigue and various combinations of other symptoms, including sore throat, lymph node pain and tenderness, headache, m...

G. P. Holmes J. E. Kaplan N. M. Gantz A. L. Komaroff L. B. Schonberger

1988-01-01

166

Kasabach-Merritt syndrome: a case report.  

PubMed

Kasabach-Meritt syndrome is a combination of thromobocytopenia, hemolytic anemia, and acute or chronic consumptive coagulopathy in association with rapidly enlarging hemangioma. A male infant of 5 days was admitted in paediatric ward with this syndrome. The baby had ecchymotic patches over face and extremities and bleeding through umbilical stump. The child expired due to severe thrombocytopenia with consumptive coagulopathy leading to precipituous hemorrhage superimposed by septicemia. An autopsy was performed which confirmed retroperitoneal lesion as kaposiform hemangioendothelioma. PMID:16758782

Bolde, S A; Shete, S S; Dantkale, S S; Deshpande, N M; Zawar, M P

2005-01-01

167

A neolithic case of Down syndrome.  

PubMed

The aim of the study is to draw attention to the existence of a Neolithic figurine from Greece with characteristics compatible with Down syndrome. We have reviewed the relevant medical and archaeological literature, and we have compared photographs of the figurine with photographs of a patient with typical Down syndrome (DS). From the above data we conclude that the 7000 years old artefact may well be the most ancient representation of the disease in Western civilisation. PMID:11619201

Diamandopoulos, A A; Rakatsanis, K G; Diamantopoulos, N

1997-04-01

168

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

PubMed

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

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

2012-02-01

169

A case of Pallister-Killian syndrome associated with West syndrome.  

PubMed

We report the case of a 19-month-old boy with Pallister-Killian syndrome associated with West syndrome. The child was born at term to a healthy mother after an uneventful pregnancy. He was born by cesarean section because of fetal macrosomia. He was observed to have nystagmus, craniofacial dysmorphism, and mental retardation. Intractable epileptic spasms developed 17 months after birth, and electroencephalography revealed a modified hypsarrhythmia. The seizures were uncontrollable with sodium valproate monotherapy. At the age of 19 months, the child was diagnosed with Pallister-Killian syndrome of mosaic tetrasomy 12p by fluorescence in situ hybridization. Combination treatment with high-dose pyridoxal phosphate and sodium valproate eliminated seizures and improved the electroencephalographic abnormalities. To our knowledge, this is the first reported case of Pallister-Killian syndrome associated with West syndrome. PMID:17765815

Yamamoto, Hitoshi; Fukuda, Miho; Murakami, Hiroshi; Kamiyama, Noriko; Miyamoto, Yusaku

2007-09-01

170

Saethre-Chotzen syndrome: a case report.  

PubMed

Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is a craniosynostosis syndrome inherited in an autosomal dominant manner. Although similar to the other craniosynostosis syndromes in its clinical presentation, this syndrome is caused by a mutation in the TWIST1 gene. The TWIST1 gene product is a transcription factor containing a basic helix-loop-helix (bHLH) domain important in the development of the head and limbs. Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal septum, broad great toes, clinodactyly, and syndactyly. We report a young girl with clinical features of Saethre-Chotzen syndrome who has a previously undescribed sequence variant in the TWIST1 gene, corresponding to p.R191M. The location of the altered amino acid in the Twist-box of TWIST1, the high conservation of this amino acid between different species, and the phenotype of the child all support a pathogenic role for this novel TWIST1 sequence alteration. PMID:19860490

Peña, William A; Slavotinek, Anne; Oberoi, Snehlata

2010-05-01

171

Abortive cryptophthalmos and cup ear deformity (Fraser syndrome): case report and literature review  

Microsoft Academic Search

Cryptophthalmos is a rare eyelid anomaly that is part of Fraser syndrome (cryptopthalmos-syndactyly syndrome). The two major\\u000a features of this syndrome, cryptophthalmos and syndactyly, may be absent in some cases. In this paper, a case of Fraser syndrome\\u000a without syndactyly is presented. The importance of ear and nose anomalies in this syndrome is emphasized.

N. Markal; H. Velidedeoglu; A. Torkut; A. Küçükçelebi

2000-01-01

172

Genoa Syndrome and Central Diabetes Insipidus: A Case Report  

PubMed Central

Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone?shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa syndrome or to a newly recognized syndrome. Endocrinopathies in association with HPE are frequently reported in the literature. Diabetes insipidus, hypothyroidism, hypocortisolism, and growth hormone deficiency are frequently associated with HPE. We here report a case of semilobar HPE, craniosynostosis and cleft lip/palate, possibly a case of Genoa syndrome, associated with central diabetes insipidus. Conflict of interest:None declared.

S?klar, Zeynep; Erdeve, Senay Savas; Berberoglu, Merih; Deda, Gulhiz; T?ras, Serap Teber; Fitoz, Suat; Ocal, Gonul

2010-01-01

173

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

174

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

PubMed

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

Krysiak, Robert; Okopie?, Bogus?aw

2013-01-01

175

Lemierre's syndrome and genetic polymorphisms: a case report  

PubMed Central

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

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

2006-01-01

176

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

177

[A case of Williams syndrome who exhibited fetishism].  

PubMed

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

Noguchi, Masayuki; Kato, Satoshi

2004-01-01

178

The 4P-syndrome. Case description and literature review.  

PubMed

The microdeletion 4p16 has been found in two rare syndromes. Until now they were considered as two different syndromes: the Wolf-Hirschhorn syndrome (WHS) and the Pitt-Rogers-Danks (PRDS) syndrome characterized by a growth retardation before and after birth, microcrania, seizures, characteristic face with thin mouth, maxillary hypoplasia, short and large philtrum, characteristic nose and mental retardation. A case with 4p-16 microdeletion with phenotype characteristics similar to PRDS is reported. The patients described as PRDS are sometimes less seriously affected than patients with WHS. In fact, cases of death are not indicated in the first year of life, internal malformations are less frequent and the face lacks the typical Greek warrior helmet Recent studies have shown that WSS and PRDS are due to the absence of similar if not identical genetic segments and the clinical differences observed could be the outcome of an allele variation on the remaining homologous part. PMID:11309539

Moretti, P; Ferrari, M; Di Battista, S; Di Battista, C

2001-02-01

179

[Impingement syndrome of the subacromial area: analysis of 42 cases].  

PubMed

To create a new classification of subacromial impingement phenomena according to different etiology, we treated 42 cases of impingement syndrome. They were 29 male, and 23 females, with an average age of 45 years. 29 patients had typical subacromial pain are signs. Positive impingement test was found in 30 patients. Roentgenographic findings showed that the high density of the great tuberosity (GT) in 27 cases, 8 cases got the cystic changes around the CT, and exostosis formed on the G. T. in 3 cases. The abnormal acromion with sloped or over hanging form was found in 6 cases. 11 cases had an irregular inferior surface of the acromion in two cases with the spur formed at inferior surface of acromion. Four patients combined with calcium deposit at subacromial space. Space narrowing of the AH interval was in noted 12 cases. According to the X-ray findings, 35 cases were classified into the abnormal anatomy structure group. The other 7 patients were in dynamic impingement group. 13 cases of impingement syndrome combined with the complication of rotator cuff tear were treated by the Mclaughlin's procedure for repairing the rotator cuff with the acromion plasty. 11 patients were followed up for more than 6 months after operation. 7 cases had excellent results and 4 cases good results. This classification includes two kinds of impingement syndromes: anatomical of structural and dynamic or dysfunction. PMID:10374506

Huang, G; Xue, Q; Sun, C

1997-01-01

180

Eagle's syndrome: A rare case of young female  

PubMed Central

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

Baseer, Mohammad Abdul; Alenazy, Mohammed Suliman

2013-01-01

181

Pallister-Killian syndrome: report of one case.  

PubMed

Pallister-Killian Syndrome (PKS) is a rare sporadic congenital anomaly disorder, characterized by multiple congenital anomalies, especially craniofacial dysmorphism. It is also associated with mental retardation, seizure, skin pigmentation, and visceral malformations such as congenital diaphragmatic hernia, congenital heart defect, anorectal anomalies, and genital malformation. This syndrome usually presents with tissue-limited mosaicism of supernumerary 12p isochromosome i (12p). Moreover, diagnosis of Pallister-Killian Syndrome (PKS) is difficult because the ratio of abnormal to normal karyotyping is much lower in peripheral lymphocytes than in skin fibroblasts. We report the first case in Taiwan, who has tetrasomy 12p mosaic in peripheral lymphocytes. PMID:17078467

Wu, Hui-Chung; Lin, Lung-Huang; Tsai, Li-Ping; Huang, Cheng-Hung; Hung, Kun-Long; Liao, Hung-Tsai

182

A case of refeeding syndrome in a marine recruit.  

PubMed

Refeeding syndrome is an under-recognized complication of starvation. Presented is a 26-year-old Marine recruit who was found to have hypothermia, mental status changes, and rhabdomyolysis after purposeful weight loss with calorie restriction in conjunction with an arduous exercise program. With rest and food, the patient developed refeeding syndrome, with hypophosphatemia requiring prolonged intravenous replacement. His case is unique in illustrating both malnutrition and refeeding syndrome in someone who appeared to be healthy and was exercising strenuously up to the point of hospital admission. PMID:23707842

Bunge, Paul D; Frank, Laura L

2013-04-01

183

A case of Poland Syndrome associated with dextroposition  

Microsoft Academic Search

Classical Poland Syndrome (PS) is characterized by unilateral, partial or complete absence of the sternocostal head of the major pectoral muscle and brachysyndactyly of fingers on the same side. We report the case of a newborn infant with dextrocardia and PS located on the left side. This association is very rare: to date only 19 cases have been described in

Doriana Lacorte; Maria Marsella; Pietro Guerrini

2010-01-01

184

Trigeminal trophic syndrome complicating a case of borderline tuberculoid leprosy.  

PubMed

An example of trigeminal trophic syndrome presenting as ulceration of ala nasi in a case of borderline tuberculoid leprosy is reported. To the best of our knowledge, this is only the second case report of this manifestation in leprosy to be documented. PMID:22655477

Verma, Prashant; Pandhi, Deepika; Singal, Archana

2012-03-01

185

Caenorhabditis elegans integrates the signals of butanone and food to enhance chemotaxis to butanone.  

PubMed

Behavioral plasticity induced by the integration of two sensory signals, such as associative learning, is an important issue in neuroscience, but its evolutionary origin and diversity have not been explored sufficiently. We report here a new type of such behavioral plasticity, which we call butanone enhancement, in Caenorhabditis elegans adult hermaphrodites: C. elegans specifically enhances chemotaxis to butanone by preexposure to butanone and food. Mutant analysis revealed that this plasticity requires the AWC(ON) olfactory neuron, whose fate is known to be determined by the NSY-1/ASK1 MAPKKK (mitogen-activated protein kinase kinase kinase) cascade as well as the DAF-11 and ODR-1 guanylyl cyclases. These proteins also control many aspects of olfactory sensation/plasticity in AWC neurons and seem to provide appropriate cellular conditions for butanone enhancement in the AWC(ON) neuron. Butanone enhancement also required the functions of Bardet-Biedl syndrome genes in the AWC(ON) neuron but not other genes that control ciliary transport. Furthermore, preexposure to butanone and the odor of food was enough for the enhancement of butanone chemotaxis. These results suggest that the AWC(ON) olfactory neuron may conduct a behavioral plasticity resembling associative learning and that the functions of Bardet-Biedl syndrome genes in sensory cilia may play an important role in this plasticity. PMID:17251413

Torayama, Ichiro; Ishihara, Takeshi; Katsura, Isao

2007-01-24

186

Dilated cardiomyopathy in Noonan's Syndrome: A first autopsy case  

Microsoft Academic Search

The first autopsy case of dilated cardiomyopathy associated withNoonan's syndrome is described. A 9-month-old girl with Noonan's syndrome died from cardiac failure. Autopsy showed biatrial and biventricular enlargement of the heart. The posterior half of the ventricular septum and right ventricular wall were remarkably thin. Other parts of the wall were nearly normal in thickness, but both ventricular cavities were

Akira Kurose; Kotaro Oyama; Yoichi Murakami; Kazushige Ohyama; Ikuo Segawa; Takashi Sawai

2000-01-01

187

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.

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

2011-01-01

188

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

189

Schwartz-Jampel syndrome: three pediatric case reports.  

PubMed

Schwartz-Jampel syndrome is a heterogeneous autosomal recessive syndrome defined by myotonia, short stature, bone dysplasia and growth retardation. Three types have been described: type 1A, usually recognized in childhood, with moderate bone dysplasia; type 1B similar to type 1A but recognizable at birth, with more prominent bone dysplasia and type 2, a rare, more severe form with increased mortality in the neonatal period. In this paper we report three pediatric cases, one with neonatal manifestation. PMID:14577682

Yapicio?lu, H; Satar, M; Yildizda?, D; Narli, N; Suleymanova, D; Tutak, E

2003-01-01

190

[The Gottron syndrome from the dentist's viewpoint, case report].  

PubMed

Facultative changes in the teeth, mouth, and jaw in addition to acrogeria, acromicria, and facial erythema are found with Gottron's syndrome. Hypoplasia of the jaw, changes in the position of the teeth, or disproportional relations in the vertical dimensions of the face have been observed. These findings were also recorded in the case described here. The possibility of Gottron's syndrome should be considered if several of the above-mentioned symptoms are present. PMID:282134

Günther, H M; Sitzmann, F

1978-12-01

191

Delleman (oculocerebrocutaneous) syndrome: few variations in a classical case  

Microsoft Academic Search

Delleman syndrome involves a group of congenital abnormalities affecting the eye, skin and central nervous system. It is a rare and sporadic disorder. We report on a 4-year-old male child who presented to us with oculocerebrocutaneous syndrome featuring:1.focal alopecia on the left side of the scalp,2.left periorbital skin appendages,3.a left-sided orbital dermoid,4.a large left-sided intracranial cyst,5.optic atrophy.About 35 such cases

Katya A Tambe; SV Ambekar; PN Bafna

2003-01-01

192

Goltz syndrome: report of two severe cases  

PubMed Central

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

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

2009-01-01

193

Postpolio Syndrome: Using a Single Case Study  

ERIC Educational Resources Information Center

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

Obringer, S. John; Elrod, G. Franklin

2004-01-01

194

A new case of oculoectodermal syndrome.  

PubMed

An 11-month-old infant girl presented with right-sided features of aplasia cutis congenita of the scalp, unilateral epibulbar dermoids, eccentric pupil, coloboma of the right upper eyelid, and depigmentation of the fundus surrounding the right optic nerve. These findings were similar to the oculoectodermal syndrome reported by other clinicians and researchers. PMID:16272058

Lee, Thomas K M; Johnson, Royce L C; MacDonald, Ian M; Krol, Alfons L; Bamforth, J Stephen

2005-09-01

195

An atypical case of Brugada syndrome.  

PubMed

Polymorphic ventricular tachycardia and ventricular fibrillation are the most common arrhythmias in Brugada syndrome causing syncope or sudden death. Sustained monomorphic ventricular tachycardias are rare in this context. We report of a patient with syncopal episodes due to episodes of sustained ventricular tachycardia, where a Type-I Brugada pattern was revealed after pharmacological provocation with procainamide. PMID:22008499

Georgios, Almpanis; Georgios, Servos; Nikolitsa, Tragotsalou; Persefoni, Koutsogiannou; Andreas, Mazarakis

2011-10-01

196

Two cases of synovitis, acne, pustulosis, osteitis--SAPHO syndrome.  

PubMed

Synovitis, acne, pustulosis, osteitis (SAPHO) syndrome is rare with yet unknown prevalence. The difficulty in recognizing the syndrome is due to the very wide diversity of its signs and symptoms, the lack of skin manifestations in many cases and to confusion in medical terminology in describing this syndrome. In this paper, we present two cases with characteristic bone lesions in bone scan and in radiology images that are considered to be SAPHO syndrome. In the first case the characteristic bone single photon emission tomography scan findings in a patient with spine involvement supposed by bone biopsy but were not followed by characteristic skin manifestations. The point of interest of this case lies on the significant improvement of both symptoms and scintigraphic findings after treatment with biphosphonates. In the second case the diagnosis was also based on the characteristic bone scan findings, although the patient referred to us for staging of prostate cancer. Detailed history and clinical examination revealed skin manifestations of the syndrome. PMID:17684587

Spyridonidis, Trifon; Giannakenas, Costas; Papandrianos, Nikos; Barla, Panagiota; Apostolopoulos, Dimitris J

197

Sudden death associated with Meigs syndrome: an autopsy case report.  

PubMed

The diagnostic criteria of Meigs syndrome are the presence of ascites and hydrothorax in association with a benign solid ovarian tumor and spontaneous resolution of ascites and pleural effusion on tumor resection. The case of a middle aged woman who died suddenly at home without significant history of illness is presented. Autopsy found a large left ovarian fibroma (which was confirmed histologically), ascites and bilateral pleural effusion with collapsed lungs. The commonest gynecologic causes of sudden death are ruptured ectopic pregnancy and induced abortions. Two case reports of death associated with Meigs syndrome were identified in the literature; both were diagnosed before the patients died. Literature search found no publication on "sudden death associated with Meigs syndrome". This is probably the first report of sudden death associated with Meigs syndrome. The terminal cause of death in this case was collapsed lungs (atelectasis). The autopsy investigation of ascites and or pleural effusion associated with an ovarian mass or lesion should always include consideration of Meigs syndrome.Sudden death associated with Meigs syndrome (undiagnosed in life) ina middle aged female is described, and selected literature on the condition reviewed. PMID:20634668

Hlaise, Keven K; Shingange, Sydney M

2012-03-01

198

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

PubMed

Sweet's syndrome or acute neutrophilic febrile dermatosis is a systemic disease of unknown etiology characterized by the appearance of skin lesions produced by a neutrophilic dermal infiltrate, fever and peripheral leukocytosis. It may be associated with hematologic diseases, including leukemia, with immune diseases as rheumatoid arthritis, or can occur in isolation. The myelodysplasias are hematological disorders characterized by one or more cytopenias secondary to bone marrow dysfunction. We present the case of a patient with Sweet's syndrome associated with myelodysplastic syndrome and treated with glucocorticoids who did not present a good clinical outcome. We discuss the different treatment of these diseases because in most cases glucocorticoids, which are the treatment of choice in Sweet's syndrome, may be insufficient. PMID:22749728

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

2012-06-30

199

Syndrome of spontaneous cerebrospinal fluid hypovolemia: report of six cases.  

PubMed

Syndrome of spontaneous cerebrospinal fluid hypovolemia (SCH) is a rare cause of new onset headache. We report six cases of SCH presenting with new onset headache. All six cases were females. Acute onset orthostatic headache and neck pain were the chief characteristics of SCH in our cases. The MRI brain showed pachymeningeal gadolinium enhancement in all patients. Spinal extradural CSF collection was demonstrable on MRI in three cases. All cases improved with conservative therapy. High index of clinical suspicion and contrast enhanced MRI brain is the key to accurate diagnosis in the majority of cases. PMID:18040112

Ambady, Prakash; Ahsan Moosa, N V; Anand Kumar, A

200

Psoriasis in hyper IgE syndrome - a case report.  

PubMed

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

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

2013-01-01

201

Lemierre syndrome: A study of 11 cases and literature review.  

PubMed

Background: Lemierre syndrome is a rare but serious illness that associates throat infection and thrombosis of the internal jugular vein (IJV) or one of its tributaries with subsequent distant septic emboli. The aim of our study is to review the pathogenesis, clinical presentation, and treatment of this disease. Methods: Patients with confirmed Lemierre syndrome were included in our retrospective monocentric study. All patients had bacteriologic analyses as well as radiologic imaging. Results: There were 11 patients in our study (1998-2012). Fusobacterium necrophorum was responsible for the infection in 45% of cases. Surgical drainage of pharyngeal, cervical or mediastinal abscesses was carried out in 8 cases. All patients received broad-spectrum antibiotics. 6 patients were admitted to the intensive care unit (ICU). One patient (9%) died. Conclusion: Treatment with broad-spectrum antibiotics is the primary choice of treatment of Lemierre syndrome. Surgery is indicated in case of abscess formation. Head Neck, 2013. PMID:23784917

Righini, Christian Adrien; Karkas, Alexandre; Tourniaire, Romain; N'gouan, Jean-Michel; Schmerber, Sébastien; Reyt, Emile; Atallah, Ihab

2013-06-19

202

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

2011-11-15

203

A Case of Concurrent Proteus Syndrome and Hemophilia A  

PubMed Central

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

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

2012-01-01

204

Isochromosome Xq in Klinefelter syndrome: Report of 7 new cases  

SciTech Connect

In this collaborative study we report on 2 prenatally and 5 postnatally diagnosed cases with a 47,X,i(Xq),Y chromosomal constitution. Excepting tall stature, the 5 adult patients showed all typical manifestations of Klinefelter syndrome. Taken together with previously reported cases, these data suggest that Klinefelter syndrome with isochromosome Xq has a favorable prognosis with normal mental development, and with normal-to-short stature. The prevalence of this Klinefelter variant is calculated to be between 0.3-0.9% in males with X chromosome polysomies. 25 refs., 1 tab.

Arps, S.; Koske-Westphal, T.; Meinecke, P. [Altonaer Kinderkrankenhause, Hamburg (Germany)] [and others

1996-09-06

205

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

PubMed Central

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

2011-01-01

206

Adrenocortical oncocytic neoplasm presenting with Cushing's syndrome: a case report  

PubMed Central

Introduction Oncocytic neoplasms occur in several organs and are most commonly found in the thyroid, kidneys and salivary glands. Oncocytic neoplasms of the adrenal cortex are extremely rare and are usually non-functioning. Case presentation We report the case of an adrenocortical oncocytic neoplasm with uncertain malignant potential in a 31-year-old man with Cushing's syndrome. The patient had been operated on following diagnosis of a 7 cm adrenal mass. Following surgery, the Cushing's syndrome resolved. The patient is still alive with no metastases one year after the surgery. Conclusion Adrenocortical oncocytic neoplasms must be considered in the differential diagnosis of both functioning and non-functioning adrenal masses.

Kabayegit, Ozlem Yersal; Soysal, Dilek; Oruk, Gonca; Ustaoglu, Bahar; Kosan, Umut; Solmaz, Serife; Avci, Arzu

2008-01-01

207

Early diagnosis of Gorlin-Goltz syndrome: case report  

PubMed Central

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

2011-01-01

208

A case of nephrotic syndrome associated with hydatiform mole  

PubMed Central

The present case study is on a 16-year-old woman who was suffering from nephrotic syndrome after recovery from complete type of hydatiform mole. She was admitted in hospital because of proteinurea and hematuria. Then she was showing a generalized edema compatible with neprhotic syndrome. In her past medical history she had a suction curettage for hydatiform mole. After she received 4 courses chemotherapy, she completely recovered and ?hCG has fallen from 12127 IU/L to under 10 IU/mL. Then she showed generalized edema, proteinurea and hematuria compatible with nephritic syndrome. After six courses chemotherapy the symptoms of nephrotic syndrome and invasive mole diminished, she released from hospital and scheduled for follow-up.

Mohammadjafari, Razieh; Abedi, Parvin; Belady, Syfolah; Hamidehkho, Tarlan; Razi, Taghi

2010-01-01

209

Lemierre's syndrome, reemergence of a forgotten disease: a case report  

PubMed Central

Lemierre's syndrome is a rare disorder of young adults caused by the anaerobic bacterium, Fusobacterium necrophorum and occasionally by other Fusobacterium species (F. nucleatum, F. mortiferum and F. varium etc). The condition is characterized by a primary oropharyngeal infection with evidence of septic thrombophlebitis, exhibited by positive blood cultures, clinical or radiographic evidence of internal jugular vein thrombosis, and at least one metastatic focus. The incidence of Lemierre's syndrome is reported to be nearly one in a million. In the pre-antibiotic era, Lemierre's syndrome followed a fulminant, often fatal course. During the 1960s and 1970s, the syndrome was rarely reported when penicillin was commonly prescribed to treat oropharyngeal infections. Today, antibiotic-resistant organisms are a major concern, thus causing more prudent prescribing of antibiotics. We present a case report of a 27-year-old man with worsening pharyngitis, which illustrates that subsequent reemergence of this often forgotten disease may become more common in clinical setting.

2009-01-01

210

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

PubMed Central

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

2009-01-01

211

Anticonvulsant hypersensitivity syndrome (AHS): a case report.  

PubMed

Anticonvulsant Hypersensitivity Syndrome (AHS) is a rare complication of common drugs used today. It is unusual in that it occurs later than most other drug reactions, about two to six weeks after initiation of the offending agent. It also has a hereditary background unlike most other drug reactions. This reaction is caused by the aromatic amines and causes hepatitis, skin rash, fever, and other systemic organ involvement can occur. The reaction is rare but often fatal, thus the observer should be acutely aware of this in the months following initiation of the agents. PMID:23617037

Keel, Bradley R; Payne, Catherine L

2013-04-01

212

ALLGROVE'S SYNDROME: CASE REPORT AND LITERATURE REVIEW  

PubMed Central

This report concerns two brothers aged 10 and 18 years with long-standing dysphagia that started at age three and six years respectively. They had been diagnosed as achalasia and treated accordingly. The appearance of additional symptoms and clinical signs required further investigations including abdominal sonography, esophago-gastroduodenoscopy, barium swallow, esophageal manometry, computerized tomography (CT) of abdomen and brain, biochemical profiles, and neurologic and ophthalmic evaluations. The results of these extensive investigations along with the clinical evaluations were consistent with Allgrove's syndrome. Glucocorticoid therapy was initiated. The management consisted of pneumatic cardiac dilatation and initiation of cortisone treatment. The patients’ response was impressive and they resumed most of their usual activities.

Yasawy, Mohamed I.

2009-01-01

213

Cutaneous cholesterol embolization syndrome: A case report.  

PubMed

An 81-year-old woman with chronic kidney disease, systemic hypertension, and a large infra-renal abdominal aortic aneurysm, developed bilateral calf muscle pain, altered sensorium, and deterioration of renal function following endovascular aneurysmal repair. On the third post-operative day she developed symmetrical purpuric macules with erythematous margins on the gluteal region and bluish reticulated patches on the soles and tips of toes. This was followed by melena development on the seventh post-operative day. Histology of the skin confirmed the diagnosis of cutaneous cholesterol embolization syndrome (CES). She was treated with hemodialysis and supportive management and she recovered. PMID:22863632

Patro, Nibedita; George, Renu; Singh, Pradyumn; Joseph, George

2012-07-15

214

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

PubMed

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

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

215

Sinding-Larsen-Johansson syndrome: A case report.  

PubMed

The Sinding-Larsen-Johansson syndrome has a pathogenesis similar to that of the Osgood-Schlatter disorder and is the result of excessive force exerted by the patellar tendon on the lower pole of the patella. Clinically it is characterized by pain, which increases when the patellar is loaded during flexion, subpatellar swelling and functional limitation. The authors present a case of a 13-year-old boy who was a competitive youth team football player. He presented with anterior, spontaneous knee pain and swelling at the inferior pole of the patella. Ultrasonography (US) confirmed clinical diagnosis showing lesions typical of the Sinding-Larsen-Johansson syndrome. The patient was told to refrain from sports activity; after five months recovery was complete and US follow-up revealed no anomaly. The authors consider the case worthy of reporting because it is paradigmatic and to emphasize the role of US in the evaluation of the Sinding-Larsen-Johansson syndrome. PMID:23396672

Valentino, M; Quiligotti, C; Ruggirello, M

2012-03-28

216

Sinding-Larsen-Johansson syndrome: A case report  

PubMed Central

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

Valentino, M.; Quiligotti, C.; Ruggirello, M.

2012-01-01

217

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

218

Consonants in Cri du chat syndrome: A case study  

Microsoft Academic Search

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

Kristian Emil Kristoffersen

2008-01-01

219

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

2012-10-04

220

Bilateral Phlegmasia Dolens Associated With Trousseau's Syndrome: A Case Report  

Microsoft Academic Search

Hasegawa S, Aoyama T, Kakinoki R, Toguchida J, Nakamura T. Bilateral phlegmasia dolens associated with Trousseau's syndrome: a case report.Phlegmasia dolens is a rare disorder caused by massive venous thrombosis. The clinical condition is subclassified as phlegmasia cerulea dolens (PCD) and phlegmasia alba dolens. The 2 forms differ in the venous area affected and remaining blood flow, causing arterial involvement

Satoshi Hasegawa; Tomoki Aoyama; Ryosuke Kakinoki; Junya Toguchida; Takashi Nakamura

2008-01-01

221

Lemierre's syndrome: case report in a pediatric patient  

Microsoft Academic Search

Lemierre's syndrome was described in 1936 as a severe oropharyngeal infection followed by septic thrombophlebitis of the internal jugular vein and disseminated metastatic infections. Cases occur typically in previously healthy young adults and children. Fusobacterium necrophorum is the main anaerobic bacterium implicated. We present a septic 2-month-old infant with mastoiditis, multiple sites of osteoarthritis and multiple subcutaneous abscesses. No underlying

M. R Litterio; A. E Soto; C. B Aguirre; M Uranga; E Rubeglio

2004-01-01

222

Reversible cerebral vasoconstriction syndrome: case report.  

PubMed

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

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

2009-04-16

223

Allgrove'S syndrome: case report and literature review.  

PubMed

This report concerns two brothers aged 10 and 18 years with long-standing dysphagia that started at age three and six years respectively. They had been diagnosed as achalasia and treated accordingly. The appearance of additional symptoms and clinical signs required further investigations including abdominal sonography, esophago-gastroduodenoscopy, barium swallow, esophageal manometry, computerized tomography (CT) of abdomen and brain, biochemical profiles, and neurologic and ophthalmic evaluations. The results of these extensive investigations along with the clinical evaluations were consistent with Allgrove's syndrome.Glucocorticoid therapy was initiated. The management consisted of pneumatic cardiac dilatation and initiation of cortisone treatment. The patients' response was impressive and they resumed most of their usual activities. PMID:23012188

Yasawy, Mohamed I

2009-01-01

224

A case of serotonin syndrome and mutism associated with methadone.  

PubMed

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

Bush, Eric; Miller, Carol; Friedman, Irwin

2006-12-01

225

Risk factors of myelodysplastic syndromes: a case–control study  

Microsoft Academic Search

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

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

2005-01-01

226

Bisalbuminemia in nephrotic syndrome (a case report).  

PubMed

A rare case of bisalbuminemia in a patient with minimal lesion glomerulonephritis (MLGN) in which the course of the disease and therapeutic response to steroid were typical of minimal lesion glomerulonephritis, is presented and literature reviewed. PMID:6748350

Ahmad, J; Khan, A S; Siddiqui, M A; Tewari, S G; Khan, R U

1984-02-01

227

Sanjad Sakati syndrome: a case series from Jordan.  

PubMed

Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Parental consanguinity was recorded in all families. This is the first genetically proven case series of Sanjad Sakati syndrome in Jordan. PMID:22764442

Albaramki, J; Akl, K; Al-Muhtaseb, A; Al-Shboul, M; Mahmoud, T; El-Khateeb, M; Hamamy, H

2012-05-01

228

Hajdu-Cheney syndrome and syringomyelia. Case report.  

PubMed

This 7-year-old boy with Hajdu-Cheney syndrome presented with cervical syringomyelia related to rapidly progressing platybasia. Decompressive craniectomy provided temporary improvement, and his clinical status was eventually stabilized after external immobilization, according to findings at 2.5 years of follow up. In a review of the literature the authors found 57 cases of the syndrome, only three of which were associated with syringomyelia. The youth of the patient, the severe form and rapid course of the disease, and the very specific anatomical conditions related to cranial and facial deformities raised various therapeutic problems. PMID:12507146

Faure, Alexis; David, Albert; Moussally, Frédéric; Khalfallah, Mansour; Jacquemont, Sébastien; Hamel, Olivier; Conti, Michele; Hamel, Antoine; Raoul, Sylvie; Robert, Roger

2002-12-01

229

Prenatal diagnosis of femoral-facial syndrome: Case report.  

PubMed

Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome, is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies. This report describes a case of FFS diagnosed after 13 weeks of pregnancy following the detection of severe micrognathia and bilateral shortening of the femur in the fetus of a patient with DM. The sonographic evolution from the first trimester until birth is described. The clinical findings, the differential diagnosis with other pathologies characterized by hypoplasia femoral, and the prognosis are discussed. © 2013 Wiley Periodicals, Inc. PMID:23325749

Castro, Simon; Peraza, Efren; Zapata, Marco

2013-01-17

230

Submandibular gland MALT lymphoma associated with Sjögren's syndrome: case report.  

PubMed

Lymphoma is a common disease of the head and neck. Mucosal-associated lymphoid tissue (MALT) lymphoma constitutes a rare type of extranodal lymphoma. The Waldeyer's ring is one of the most common sites of occurrence, but MALT lymphoma may also arise in salivary glands, lung, stomach, or lacrimal glands. In the oral cavity, it may be confused with swellings from dental infection or sinus inflammation. Often, the patient will seek a dentist because of mobile teeth or because a denture no longer fits. We report a case of a female patient with salivary gland dysfunction and pain of several years' duration, who, after numerous tests and hospitalizations, was diagnosed with Sjögren's syndrome. She later developed mucosal-associated lymphoid tissue lymphoma. We discuss the diagnosis, treatment, and prognosis of this entity. MALT lymphoma is rare in salivary glands. In primary-Sjögren's syndrome, predisposition of the patient for development of malignant non-Hodgkin's lymphoma (4% to 10%) is well established. In this case, long-standing sialadenitis and Sjögren's syndrome seem to be the etiological factors. In cases of chronic infection of salivary glands and the presence of autoimmune syndromes, MALT lymphoma should be considered in the differential diagnosis. Consults should be called to ophthalmology, rheumatology, and head and neck oncologists for proper workup, staging, and treatment. PMID:21549473

Movahed, Reza; Weiss, Adam; Velez, Ines; Dym, Harry

2011-05-06

231

Large vestibular aqueduct syndrome: a case study.  

PubMed

A 23-month-old female was referred for hearing aid fitting after failing newborn hearing screening and being diagnosed with significant hearing loss through subsequent diagnostic testing. Auditory brainstem response (ABR) and behavioral testing revealed a moderate-to-severe bilateral mixed hearing loss. Prior to the hearing aid evaluation, tympanostomy tubes had been placed bilaterally with little or no apparent change in hearing sensitivity. Initial testing during the hearing aid fitting confirmed earlier findings, but abnormal middle ear results were observed, requiring referral for additional otologic management. Following medical clearance, binaural digital programmable hearing aids were fit using Desired Sensation Level parameters. Behavioral testing and probe microphone measures showed significant improvements in audibility. Decrease in hearing sensitivity was observed six months following hearing aid fitting. Radiological studies, ordered due to the mixed component and decreased hearing sensitivity, revealed large vestibular aqueduct syndrome (LVAS). Based on the diagnosis of LVAS, a cochlear implant was placed on the right ear; almost immediate speech-language gains were observed. PMID:16515134

Clark, Jackie L; Roeser, Ross J

232

Marfan syndrome with acute abdomen: a case report  

PubMed Central

Introduction Marfan syndrome is an autosomal dominant connective tissue disorder characterized by a combination of clinical manifestations in different organ systems. Patients with Marfan syndrome (MFS) whose lifetimes are extended may be encountered as acute abdomen (appendicitis) cases apart from the obligatory reasons and emergencies arising naturally out of their disease, as in the case reported. Case presentation In a 28-year-old Turkish male, arachnodactyly, pectus excavatum, kyphoscoliosis and, according to pulmonary roentgenogram, a density increase in the left apical field were detected. In addition, according to the echocardiographic examination, Ebstein’s anomaly, mitral valve prolapse, pulmonary hypertension, and inferior deficiency of mitral, aorta, and tricuspid valves were present. The patient was planned to be operated on with the prediagnosis of acute abdomen. Conclusion Taking into consideration the pathologies that may accompany MFS and the probable future complications, the patients must be closely monitored during anesthesia applications and required measures should be taken beforehand.

Zencirci, Beyazit

2010-01-01

233

Crane-Heise syndrome: two further case reports.  

PubMed

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 were reported with similar findings. We present two further cases, diagnosed after termination of pregnancy at 24 weeks' gestation in one case and straight after birth in the other, both very similar to the previously reported ones, and broaden the clinical spectrum of this entity. To our knowledge, no molecular mechanism has been identified in Crane-Heise syndrome so far. PMID:21094705

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

2010-11-20

234

Pregnancy in sick sinus syndrome with pacemaker - two cases.  

PubMed

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

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

2013-04-01

235

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

PubMed

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

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

2013-05-15

236

Crouzon's syndrome: A review of literature and case report.  

PubMed

Crouzon's 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's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early then it may interfere with the growth of the brain. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Case report of a 7 year old boy is presented with characteristic features of Crouzon's syndrome with mental retardation. The clinical, radiographic features along with the complete oral rehabilitation done under general anesthesia and preventive procedures done are described. PMID:22215936

Padmanabhan, Vivek; Hegde, Amitha M; Rai, Kavita

2011-07-01

237

Recurrent Fisher-Bickerstaff syndrome: report of a Chinese case.  

PubMed

Fisher-Bickerstaff syndrome (FBS) was recently proposed to help to diagnose the conditions that overlap Fisher syndrome and Bickerstaff’s brainstem encephalitis, as well as the unclassified conditions that had ophthalmoplegia and ataxia with clear consciousness, flexor plantar response and preserved tendon reflexes. Recurrences are exceptional with Guillain-Barré syndrome and its variants. Here we reported a patient with diagnosis of recurrent FBS. The patient presented with recurrent drowsiness, unsteady gait, diplopia and reduced deep tendon reflexes, which met the diagnostic criteria for FBS. The interval was eight months. He was treated with intravenous immunoglobulins during each episode and got good recovery. To our knowledge, this is a relatively early report about recurrent FBS case that had central and peripheral involvement during each episode in China. PMID:22040444

Dong, Hui-qing; Liu, Zheng; Tang, Yi; Lu, Yan; Wang, Qi; Jia, Jian-ping

2011-09-01

238

[XYY syndrome. Report of a case].  

PubMed

A sixteen year old boy was admitted to our department for delayed puberty. The personal history was not significant and physical examination revealed only a genital hypogonadism. The endocrinology study of the patient showed a hypogonadotropic hypogonadism. The IQ was low. The personality showed infantilism and aggressive impulses. A karyotype revealed 47,XYY. We discuss here the clinical implications of the case. PMID:1815121

Gelisio, P; Frigato, F; Magnanini, P; Saonato, F; De Riva, C; Virgili, F

239

A Case Report of Sweet's Syndrome with Parotitis  

PubMed Central

Sweet's syndrome is characterized by clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions, and a diffuse infiltrate of mature neutrophils. This is a report of our experience of Sweet's syndrome with parotitis. A 57-year-old man initially presented with tender swelling on the right cheek similar to parotitis. His symptoms relapsed despite the use of an oral antibiotic agent for 3 weeks. He additionally presented with erythematous papules and plaques on the periocular area and dorsum of both hands. Histiopathologic findings on punch biopsy of the right dorsum of the hand showed superficial perivenular histiocytic infiltration without vasculitis. We confirmed this as histiocytoid Sweet's syndrome and used systemic corticosteroid. After initiation of treatment with systemic corticosteroids, there was a prompt recovery from both the dermatosis-releated symptoms and skin lesions. Sweet's syndrome should be considered in patients with therapy-refractory parotitis and unclear infiltrated nodules. We present a confusing case who initially appeared to have parotitis but turned out to have histiocytoid Sweet's syndrome.

Jo, Myoung Soo; Lim, Young Bin; Shin, Hea Kyeong; Choe, Joon; Jang, Tae Jung

2012-01-01

240

A Case Report of Sweet's Syndrome with Parotitis.  

PubMed

Sweet's syndrome is characterized by clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions, and a diffuse infiltrate of mature neutrophils. This is a report of our experience of Sweet's syndrome with parotitis. A 57-year-old man initially presented with tender swelling on the right cheek similar to parotitis. His symptoms relapsed despite the use of an oral antibiotic agent for 3 weeks. He additionally presented with erythematous papules and plaques on the periocular area and dorsum of both hands. Histiopathologic findings on punch biopsy of the right dorsum of the hand showed superficial perivenular histiocytic infiltration without vasculitis. We confirmed this as histiocytoid Sweet's syndrome and used systemic corticosteroid. After initiation of treatment with systemic corticosteroids, there was a prompt recovery from both the dermatosis-releated symptoms and skin lesions. Sweet's syndrome should be considered in patients with therapy-refractory parotitis and unclear infiltrated nodules. We present a confusing case who initially appeared to have parotitis but turned out to have histiocytoid Sweet's syndrome. PMID:22783494

Jo, Myoung Soo; Lim, Young Bin; Shin, Hea Kyeong; Choe, Joon; Seul, Jung Hyun; Jang, Tae Jung

2012-01-15

241

An unusual case of POEMS syndrome.  

PubMed

We report a 48-year-old man, a farmer, presenting with chronic sensori-motor polyneuropathy. Electrophysiology revealed demyelinating type of neuropathy. Immunoelectrophoresis for monoclonal protein was negative; however, plasmacytoma was discovered on spine imaging. After receiving radiotherapy and chemotherapy over past 9 months there has been a considerable improvement in patient's disability. This case highlights the role of skeletal survey in evaluation of chronic demyelinating neuropathy. PMID:22922911

Gupta, Mani; Verma, Rajesh; Garg, Ravindra Kumar; Singh, Maneesh

2012-08-24

242

Bilateral type-I duane syndrome with multiple anamolies: a case report.  

PubMed

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

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

2012-10-01

243

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

PubMed Central

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

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

2012-01-01

244

Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies  

Microsoft Academic Search

Two patients with early onset Cockayne's syndrome are presented. In each case there was a striking failure of growth and developmental deterioration around six months of age. It has been suggested that early onset Cockayne's syndrome is a syndrome distinct from Cockayne's syndrome, but when the first patient died aged two years 10 months, examination of the brain showed a

M A Patton; F Giannelli; A J Francis; M Baraitser; B Harding; A J Williams

1989-01-01

245

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

PubMed

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

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

2009-04-01

246

Stauffer's Syndrome Variant with Cholestatic Jaundice A Case Report  

PubMed Central

Cholestasis is a common feature of several malignant diseases, including pancreatic, hepatic, gallbladder, and ampullary carcinomas. It is usually secondary to main bile duct obstruction or widespread hepatic metastasis, but it can also be a paraneoplastic syndrome of other underlying malignancies. Stauffer's syndrome is a rare paraneoplastic manifestation of renal cell carcinoma (RCC) that is characterized by elevated alkaline phosphatase, erythrocyte sedimentation rate, ?-2-globulin, and ?-glutamyl transferase, thrombocytosis, prolongation of prothrombin time, and hepatosplenomegaly, in the absence of hepatic metastasis and jaundice. A rare variant of this syndrome with jaundice has recently been described in 3 cases in the literature. We report a patient who presented with abdominal pain and cholestatic jaundice in whom RCC was incidentally found during initial workup. Jaundice and liver dysfunction resolved completely after surgical resection of the tumor. This case illustrates the protean manifestations of RCC, and the importance of considering Stauffer's syndrome and its variant in the differential diagnosis of anicteric and icteric cholestasis, which may allow early recognition and treatment of an underlying malignancy.

Morla, Diana; Alazemi, Saleh; Lichtstein, Daniel

2006-01-01

247

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

PubMed

Charles Bonnet syndrome refers to visual hallucinations in patients with visual acuity loss or visual field loss without dementia. We report a case of Charles Bonnet syndrome following syphilitic optic neuritis. A 62-year-old man was admitted to our hospital suffering acute bilateral visual loss in a few months. On admission, he was almost blind and his optic discs were found to be atrophic on fundoscopy. In addition to increased cell counts and protein concentration in cerebrospinal fluid (CSF), serum and CSF rapid plasma reagin tests were positive. A diagnosis of syphilitic optic neuritis was made and he was treated with intravenous penicillin G (24 million units per day for 14 days) without any recovery. After treatment finished, he began to experience complex, vivid, elaborate and colored visual hallucinations. He recognized these visions as unreal and felt distressed by them. No cognitive impairment was observed on several neuropsychological tests. We diagnosed the patient as suffering from Charles Bonnet syndrome. Brain MRI revealed diffuse mild atrophy of the cerebral cortex and multiple T2 high signal intensity lesions in the deep cerebral white matter. Single photon emission computed tomography revealed decreased regional cerebral blood flow in bilateral medial occipital lobes. Administration of olanzapine resulted in a partial remission of visual hallucinations. Charles Bonnet syndrome following syphilitic optic neuritis is rare. In the present case, visual loss and dysfunction of bilateral medial occipital lobes may have triggered the visual hallucinations, which were alleviated by olanzapine. PMID:21878726

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

2011-08-01

248

Cerebral Infarction in a Case of Parry-Romberg Syndrome.  

PubMed

Our objective is to report a rare coexistence of Parry-Romberg disease and ischemic stroke. Here, we report the case of a 34-year-old woman with Parry-Romberg syndrome who developed cerebral infarction. This patient developed sudden left-sided weakness and was admitted to our hospital. Magnetic resonance imaging revealed acute cerebral infarction in the posterior limb of the right internal capsule. The patient had been diagnosed with Parry-Romberg syndrome at the age of 12, and she had a history of migraine without aura. Transesophageal echocardiography revealed a patent foramen ovale, but no atrial septal aneurysm or deep vein thrombosis was observed in the lower extremities. She was treated with 200 mg of aspirin and 10 mg of atorvastatin. Her symptoms gradually improved, and she was discharged 10 days after admission. Parry-Romberg syndrome is a rare disease of progressive hemifacial atrophy with unknown etiology. The potential risk factors for ischemic stroke in Parry-Romberg syndrome include ipsilateral cerebrovascular abnormality or migraine. In addition, patent foramen ovale was identified as a concomitant risk factor in our case. PMID:23664460

Tomizawa, Yuji; Tanaka, Ryota; Sekiguchi, Kiyoshi; Oji, Yutaka; Tanaka, Yasutaka; Yamashiro, Kazuo; Hattori, Nobutaka

2013-05-01

249

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

Microsoft Academic Search

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

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

2008-01-01

250

Myelodysplastic Syndrome and Autoimmunity: A Case Report of an Unusual Presentation of Myelodysplastic Syndrome  

PubMed Central

Myelodysplastic syndrome (MDS) commonly presents asymptomatically or with symptomatic cytopenias. However, autoimmune phenomena in association with MDS have been well described in several case reports and case series. Typically, these autoimmune phenomena take the form of vasculitides, arthritis, connective tissue diseases, pulmonary infiltrates, or polymyalgia rheumatica. We present the case of a woman with MDS (karyotype 46,XX,+1,der(1;7)(q10;p10)[20], that evolved with an additional trisomy 8 clone) and a novel spectrum of autoimmune diseases including acute fibrinous and organizing pneumonia (AFOP) and lacrimal gland pseudotumor.

Merrill, Andrea L.; Smith, Hedy

2011-01-01

251

Omenn syndrome: a rare case of neonatal erythroderma.  

PubMed

Omenn syndrome is a severe combined immunodeficiency characterized by erythroderma, hepatosplenomegaly, lymphadenopathy and failure to thrive, with activated oligoclonal T lymphocytes and an absence of circulating B cells.A 3 day-old boy presented with a congenital erythroderma. Investigations revealed a marked neutropenia and lymphopenia and the absence of a thymus. Genetic studies showed RAG 1 mutations. He was successfully treated with an HLA identical bone marrow transplantation. Omenn syndrome is a rare severe combined immunodeficiency. Most cases are due to mutations in the RAG genes with autosomal recessive transmission. Our observation is original because of an incomplete clinical presentation. During the course of the disease, the child had no failure to thrive, no organomegaly and no recurrent infection. Immunodeficiency must be excluded in every case of neonatal erythroderma and an immunological assessment should be performed without delay. PMID:17337397

Puzenat, E; Rohrlich, P; Thierry, P; Girardin, P; Taghian, M; Ouachee, M; Plouvier, E; Fischer, A; Humbert, P; Aubin, F

2007-03-02

252

Non Surgical Treatment of Eagle's Syndrome - A Case Report -  

PubMed Central

Eagle's syndrome is a disease without a clear lesion that is associated with repeated episodes of pharyngalgia, odynophagia, the sensation of a foreign body in the pharynx, tinnitus, and otalgia in which patients displaying these types of symptoms must be given a differential diagnosis. It is known to be characterized by styloid process elongation or increasing compression to adjacent anatomical structures through stylohyoid ligament calcification. In serious cases, continuous pressure to the carotid artery can lead to a stroke. Diagnosis is confirmed through clinical symptoms, radiological findings, and physical examinations. The most common type of treatment consists of a surgical excision of elongated styloid process. Nonetheless, this study presents a case of treating Eagle's syndrome with conservative management.

Han, Min Kyu; Yang, Jong Yeun

2013-01-01

253

Non Surgical Treatment of Eagle's Syndrome - A Case Report -.  

PubMed

Eagle's syndrome is a disease without a clear lesion that is associated with repeated episodes of pharyngalgia, odynophagia, the sensation of a foreign body in the pharynx, tinnitus, and otalgia in which patients displaying these types of symptoms must be given a differential diagnosis. It is known to be characterized by styloid process elongation or increasing compression to adjacent anatomical structures through stylohyoid ligament calcification. In serious cases, continuous pressure to the carotid artery can lead to a stroke. Diagnosis is confirmed through clinical symptoms, radiological findings, and physical examinations. The most common type of treatment consists of a surgical excision of elongated styloid process. Nonetheless, this study presents a case of treating Eagle's syndrome with conservative management. PMID:23614080

Han, Min Kyu; Kim, Do Wan; Yang, Jong Yeun

2013-04-03

254

Parsonage–Turner Syndrome—Case Report and Literature Review  

Microsoft Academic Search

Parsonage–Turner syndrome is the term used to describe a neuritis involving the brachial plexus. It may present with symptoms\\u000a of an isolated peripheral nerve lesion, although the pathology is thought to lie more proximally. A case describing an isolated\\u000a anterior interosseus nerve palsy due to an acute brachial neuritis is presented where the electromyographic findings confirmed\\u000a the diagnosis, but also

A. J. Hussey; C. P. O’Brien; P. J. Regan

2007-01-01

255

[Dissecting aortic aneurysm at Marfan syndrome--case report].  

PubMed

The authors present the case report of a Marfan syndrome patient with aneurysm of ascending, dissecting aneurysm of descending and abdominal aorta. Ascending aorta replacement with aortic valve sparing procedure was performed at first surgery. Later on descending and abdominal aorta were replaced. The patient was reoperated because of a chylus collection in retroperitoneal space. Three months following surgery the patient is completely recovered. PMID:17879712

Santavý, P; Cermák, M; Hájek, R; Fábiková, K; Novotný, J; N?mec, P

2007-07-01

256

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

PubMed

Progressive hemifacial atrophy (Parry-Romberg syndrome) is a slowly progressing facial atrophy of subcutaneous fat and the wasting of associated skin, cartilage, and bone. This disorder includes an active progressive phase (2 to 10 years) followed by a burning out of the atrophic process with subsequent stability. This article presents a review of the literature and a case report with unique dental involvement as a result of this disease process. PMID:7614157

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

1995-01-01

257

A case of Hughes-Stovin syndrome associated with hyperhomocysteinemia.  

PubMed

We report a case of Hughes-Stovin syndrome (HSS) associated with hyperhomocysteinemia. A 24-year-old man who has no clinical features suggestive of Behcet's disease was admitted for hemoptysis and dyspnea. Radiological and laboratory evaluation revealed multifocal pulmonary artery aneurysms involving bilateral segmental pulmonary artery, thrombi in right atrium and ventricle, and hyperhomocysteinemia. Accordingly, HSS associated with hyperhomocysteinemia was diagnosed, and the clinical and radiological improvement was achieved after treatment with prednisolone, warfarin, and folic acid. PMID:20140757

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

2010-02-08

258

Serotonin syndrome and rhabdomyolysis in venlafaxine poisoning: a case report.  

PubMed

Newer, more selective, antidepressant agents are increasingly being used as first-line treatment. However, clinical experience in patients after a deliberate overdose is limited. We present a case of venlafaxine intoxication complicated by a late rise in creatine kinase, seizures and serotonin syndrome. Rhabdomyolysis prolonged the hospital stay in our patient but had no other serious consequences. Physicians should be aware of this late phenomenon in patients with venlafaxine poisoning. PMID:16186642

Hanekamp, B B; Zijlstra, J G; Tulleken, J E; Ligtenberg, J J M; van der Werf, T S; Hofstra, L S

2005-09-01

259

A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature.  

PubMed

A boy with features suggesting the diagnosis of Wiedemann-Rautenstrauch syndrome (WRS) or neonatal progeroid syndrome is presented. Abnormal findings included a generalized virtual absence of subcutaneous fat, sparse scalp hair, prominence of veins and muscles, a large and persistent anterior fontanelle and facial dysmorphism (triangular aged face, prominent eyes and scalp veins). Until now, only 13 cases (including one prenatal diagnosis) of this syndrome have been described. Since the borderlines of this syndrome are not very exact, we reviewed the previous reports in order to further delineate this rare syndrome. PMID:9220191

Courtens, W; Nuytinck, L; Fricx, C; André, J; Vamos, E

1997-07-01

260

A case of Poland Syndrome associated with dextroposition  

PubMed Central

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

2010-01-01

261

[Extrapyramidal syndromes caused by flunarizine. Apropos of 6 cases].  

PubMed

The ability of flunarizine in inducing or worsening extrapyramidal symptoms is well documented. The relation with age or dose of such symptoms as their clinical characteristics remain controversial. We report 6 cases of extrapyramidal syndromes induced by flunarizine in five women and one man (mean age 71.5 +/- 5 years). The daily dose was 10 mg in five cases (as recommended by the marketing laboratory) and 20 mg in one patient. These observations allow to discuss the dose-dependent occurrence of this adverse reaction. In only three cases the reason for treatment was compatible with the official french indication. These side effects appeared after 7.0 +/- 1.6 months and disappeared after 2.2 +/- 0.5 months respectively. Flunarizine-induced extrapyramidal symptoms are mainly characterized by tremor (which was the main symptom in 4 cases and the only one in 2 cases). PMID:2353329

Senard, J M; Colomes, M; Rostin, M; Clanet, M; Montastruc, J L

262

A new association of multiple congenital anomalies/mental retardation syndrome with bradycardia-tachycardia syndrome: a case report  

PubMed Central

Introduction Congenital bradycardia-tachycardia syndrome is a rare disorder. Its association with multiple congenital anomalies/mental retardation (MCA/MR) syndrome is exceptional. Case presentation We report a case of a new association of MCA/MR with bradycardia-tachycardia syndrome in an 18-year-old Indian man. This syndrome is characterized by mental retardation with delayed development of milestones, progressive scoliosis, cryptorchidism, asymmetrical limbs involving both the upper and lower limbs, sleep apnea syndrome, bradycardia-tachycardia syndrome and Dandy-Walker syndrome. Our patient was admitted for septoplasty with adenoidectomy. Patients with MCA/MR with bradycardia-tachycardia syndrome pose a unique challenge to the anesthesiologist. Establishing a good rapport with these patients is imperative. In addition to that, the anesthesiologist should anticipate the difficulty in intubation and rhythm abnormalities during the peri-operative period. Bradycardia or sinus arrest is a well-known complication during the induction and maintenance of anesthesia. Lignocaine should be used with caution in patients with bradycardia-tachycardia syndrome. Monitoring of ventilation parameters (end-tidal CO2, SPO2, airway pressure) is essential as these patients are prone to develop pulmonary artery hypertension secondary to sleep apnea syndrome. Conclusion Based on our clinical experience in detailed pre-operative evaluation and planning, we would emphasize peri-operative anticipation and monitoring for dysrhythmias in patients with MCA/MR and bradycardia-tachycardia syndrome undergoing any surgical procedure.

2009-01-01

263

Surviving stiff-person syndrome: a case report.  

PubMed

Stiff-person syndrome (SPS) is a rare condition of progressive muscular rigidity and spasm, frequently accompanied by other autoimmune conditions, an association which has been further strengthened by the discovery of anti-GAD antibodies and the response of SPS to immunotherapies. Intravenous immunoglobulin (IVIg) is the mainstay therapy. Because of the rarity of the GAD antibody associated conditions, most of the information regarding treatment is case series and individual case reports. Here we describe the 15 year long management of a subject with SPS who has had a favourable outcome. PMID:21442460

Gnanapavan, Sharmilee; Vincent, Angela; Giovannoni, Gavin

2011-03-26

264

A Case of Necrotizing Keratoscleritis in Primary Sjogren's Syndrome  

PubMed Central

We report on a case of necrotizing keratoscleritis in primary Sjogren's syndrome. A 66-year-old female patient who was complaining of ocular pain, tearing and decreased vision in her right eye for the previous two days was admitted to our hospital. Visual acuity in the right eye was hand movement, and initial examination showed a 3.0 × 1.8 mm uveal mass bulging through a corneoscleral melting site in the nasal region of the right eye. Positive anti-nuclear antibody was identified at a titer of 1:320 with a speckled pattern, and both Sjogren's syndrome A and Sjogren's syndrome B antibody tests were positive, with titers >200 U/mL. A technetium 99m pertechnetate salivary scan revealed chronic sialoadenitis in the submandibular glands. We diagnosed the lesion as necrotizing keratoscleritis due to primary Sjogren's syndrome. A corneoscleral patch graft was performed, followed by immunosuppression including oral cyclosporin and topical prednisolone. During a follow-up period of 12 months, the corneoscleral graft was well maintained with no recurrence.

Choi, Won; Lee, Shin-Seok; Park, Yeong-Geol

2011-01-01

265

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

PubMed

Despite extensive literature on toxic shock syndrome, reports of its manifestations in children remain relatively uncommon. Similarly, toxic shock syndrome in association with influenza B or influenza-like illness has been reported in 12 patients, but it has been reported to occur following influenza A in only two patients to date. We report a third case of toxic shock syndrome in a child with influenza A and review the association between epidemic influenza and toxic shock syndrome ("the Thucydides syndrome"). PMID:8353244

Tolan, R W

1993-07-01

266

Cushing’s syndrome as a cause of secondary obesity and metabolic syndrome: a case report  

Microsoft Academic Search

We describe the case of a woman affected by morbid obesity associated to type 2 diabetes mellitus (T2DM), hyperlipidaemia\\u000a and hypertension, configuring a picture of metabolic syndrome (MS). Hormonal investigations revealed that her MS was secondary\\u000a to the presence of a cortisol-producing left adrenal adenoma. After monolateral adrenalectomy, the MS subsided. Excessive\\u000a and sustained hypercortisolism gives rise to the entire

Carla Micaela Cuttica; Patrizia Del Monte; Teresa Cardillo; Paola Carla Robotti; Luca Foppiani; Alessandro Marugo; Massimo Oppezzi; Paolo Quilici; Anselmo Arlandini

2009-01-01

267

Fatal atypical reversible posterior leukoencephalopathy syndrome: a case report  

PubMed Central

Introduction Reversible posterior leukoencephalopathy syndrome – a reversible subacute global encephalopathy clinically presenting with headache, altered mental status, visual symptoms such as hemianopsia or cortical blindness, motor symptoms, and focal or generalized seizures – is characterized by a subcortical vasogenic edema symmetrically affecting posterior brain regions. Complete reversibility of both clinical signs and magnetic resonance imaging lesions is regarded as a defining feature of reversible posterior leukoencephalopathy syndrome. Reversible posterior leukoencephalopathy syndrome is almost exclusively seen in the setting of a predisposing clinical condition, such as pre-eclampsia, systemic infections, sepsis and shock, certain autoimmune diseases, various malignancies and cytotoxic chemotherapy, transplantation and concomitant immunosuppression (especially with calcineurin inhibitors) as well as episodes of abrupt hypertension. We describe for the first time clinical, radiological and histological findings in a case of reversible posterior leukoencephalopathy syndrome with an irreversible and fatal outcome occurring in the absence of any of the known predisposing clinical conditions except for a hypertensive episode. Case presentation A 58-year-old Caucasian woman presented with a two-week history of subacute and progressive occipital headache, blurred vision and imbalance of gait and with no evidence for raised arterial blood pressure during the two weeks previous to admission. Her past medical history was unremarkable except for controlled arterial hypertension. Cerebral magnetic resonance imaging demonstrated cortical and subcortical lesions with combined vasogenic and cytotoxic edema atypical for both venous congestion and arterial infarction. Routine laboratory and cerebrospinal fluid parameters were normal. The diagnosis of reversible posterior leukoencephalopathy syndrome was established. Within hours after admission the patient showed a rapidly decreasing level of consciousness, extension and flexion synergisms, bilaterally extensor plantar responses and rapid cardiopulmonary decompensation requiring ventilatory and cardiocirculatory support. Follow-up cerebral imaging demonstrated widespread and confluent cytotoxic edematous lesions in different arterial territories, global cerebral swelling, and subsequent upper and lower brainstem herniation. Four days after admission, the patient was declared dead because of brain death. Conclusion This case demonstrates that fulminant and fatal reversible posterior leukoencephalopathy syndrome may occur spontaneously, that is, in the absence of any of the known predisposing systemic conditions.

2013-01-01

268

Antiphospholipid syndrome presenting as progressive neuropsychiatric disorders: two case reports  

PubMed Central

The antiphospholipid syndrome (APS) is a rare form of autoimmune coagulopathy. In this syndrome, the most common neurologic abnormality is transient ischemic attack. This can be easily overlooked if a patient presents with progressive neuropsychiatric disorders, such as depression or dementia. We report two cases of young women, aged 35 and 22 years, presenting with progressive depression and mental decline over a certain period. The neuropsychological diagnoses of the two patients were, respectively, dementia with disinhibition and borderline dementia with depression. Brain magnetic resonance imaging showed multiple old infarcts with encephalomalacia in the former case, and only one cortical hemorrhagic infarction, over the right temporoparietal lobe, observed in the latter case. The outcomes of the two cases were also very different. Progressive neuropsychiatric disorders are increasingly observed in the young; therefore, APS and other autoimmune diseases should be considered during the differential diagnosis. Brain imaging examinations may prevent a delay in the detection of a structural lesion and facilitate the early intervention with good prognosis. Careful investigations by experts from different disciplines are always encouraged in complicated cases.

Li, Chien-Hsun; Chou, Mei-Chuan; Liu, Ching-Kuan; Lai, Chiou-Lian

2013-01-01

269

Therapeutic approach to Gradenigo's syndrome: a case report  

PubMed Central

Introduction Traditional management of Gradenigo's syndrome requires aggressive and radical surgery without any attempt to preserve hearing. Recent reports, however, describe a successful outcome after conservative surgical intervention without labyrinthectomy. A similar outcome has also been reported in patients who were only prescribed with antibiotics and did not undergo myringotomy. Case presentation We report the case of a 24-year-old Caucasian Greek woman with Gradenigo's syndrome who was treated by draining her petrous apex via an infralabyrithine approach between her posterior semicircular canal and the jugular bulb. Her inner ear was not sacrificed during the procedure. She presented pre-operatively with ipsilateral conductive hearing loss, which recovered completely four weeks after the surgery. Conclusions Patients with Gradenigo's syndrome may be successfully treated with a combination of long-term permanent drainage and ventilation of the apical cells with corresponding hearing preservation. This can be achieved via a combination of transmastoid, infralabyrinthine and suprajugular approaches, if such would be allowed by the anatomy of the region or if there is enough space between the posterior semicircular canal and the jugular bulb.

2010-01-01

270

A rare case of Brown-Sequard syndrome caused by cervical disc herniation: a case report  

PubMed Central

Abstract: Brown-Sequard syndrome is a rare neurological disorder characterized by ipsilateral motor paralysis caused by a lesion through corticospinal tract and contralateral loss of pain and temperature sensation due to the involvement of spinothalamic tract. Cervical disc herniation has been reported to be a rare cause of Brown-Séquard's syndrome. This paper aims to report a case of Brown-Sequard syndrome that occurred in a patient suffering from CHD. In this case, using a rapid and urgent intervention we could prevent permanent neurologic deficit in the patient. Case: A 56-year-old woman complained about a sudden paresis in her right leg lasting for 4 days. Her pain was progressively worsening until she couldn’t walk without assistance. There was no history of trauma in the neck. Neurological examinations revealed right side spastic hemi-paresis as well as loss of pain and temperature sensation below T4 dermatome in the left side. The case was diagnosed as Brown-Sequard syndrome and cervical magnetic resonance imaging scan showed a disc herniation at C5/C6 and C6/C7 levels. Surgery was performed via anterior cervical microdiscectomy and fusion. After a 2-month period of follow-up, neurological assessments showed that motor and sensory functions of the patient returned to the normal condition. Although cervical disc herniation as a cause of Brown-Sequard syndrome is relatively rare, early diagnosis accompanied by an urgent treatment can prevent neurological complications in such cases. Keywords: Brown-Sequard Syndrome, Cervical Disc Herniation, Surgery, Ipsilateral motor paralysis

Ghasemi, Amir Abbas

2012-01-01

271

A case of Klippel-Feil and Turner syndromes.  

PubMed

The purpose of this paper was to describe the clinical case of a 12-year-old female patient with Klippel-Feil syndrome (KFS) combined with Turner syndrome (TS) and a submucous cleft palate (CP). The patient's general appearance was characterized by KFS, a clinical triad consisting of congenital fusion of at least 2 of 7 cervical vertebrae with a short neck, limited head motion, and a low posterior hairline. Three-dimensional images from cone-beam computed tomography (CBCT) revealed cervical vertebrae anomalies and submucous CP. It was reported that the patient had TS and has been administered growth hormone (GH) therapy. Due to a skeletal class III pattern with a steep mandibular plane angle, facial asymmetry, and fused cervical vertebrae, GH's effects on the craniofacial complex should be considered before orthopedic/orthodontic treatment is started. PMID:22583876

Park, Jae Hyun; Tai, Kiyoshi; Sato, Yasumori; Nishiyama, Akiyoshi; Shin, Je-Won

272

A case of blue rubber bleb nevus syndrome  

PubMed Central

Blue rubber bleb nevus syndrome is a rare disorder that is characterized by multiple recurrent vascular malformations, such as hemangioma, and these primarily involve the skin and the gastrointestinal tract. It may also involve the brain, liver, lungs, and skeletal muscles. A 14-year-old female visited our hospital with a chief complaint of dizziness; upon examination, we found multiple recurrent hemangiomas on the skin and gastrointestinal tract. We were able to diagnose her as suffering from blue rubber bleb nevus syndrome and we treated her with methylprednisolone (2 mg/kg/day for 1 month and 1 mg/kg/day for additional 3 months). We report on this case along with a review of the literature.

Shin, Seung-Hwan; Ji, Jeong-Seon; Kim, Hyung-Keun; Cho, Young-Seok; Chang, Eun-Deok; Choi, Kyu-Yong

2008-01-01

273

[Griscelli-Prunieras syndrome: report of two cases].  

PubMed

Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible. PMID:19217573

González Carretero, P; Noguera Julian, A; Ricart Campos, S; Fortuny Guasch, C; Martorell Sampol, L

2008-12-06

274

Mulvihill-Smith syndrome: case report and review.  

PubMed Central

We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a progeroid disorder described in four or possibly five sporadic cases to date. We describe his clinical progress up to the age of 20 years. Our patient suffered from severe viral infections, allergic rhinitis and conjunctivitis, delayed puberty, visual loss, modest achievement in high school, and reactive depression. The immunological, facioskeletal, and dental abnormalities are presented in detail. Images

Bartsch, O; Tympner, K D; Schwinger, E; Gorlin, R J

1994-01-01

275

607 X- Linked Agammaglobulinemia and Moebius Syndrome, First Case Reported  

PubMed Central

Background To know the association between X-linked Agammaglobulinemia and Moebius Syndrome. The X-linked Agammaglobulinemia or Bruton disease, is characterized by the absence of B cells and decreased serum immunoglobulin. The defective gen codes a tyrosincinasa protein: Btk. Moebius Syndrome is a congenital facial palsy with impairment of ocular abduction, by a craniofacial dysmorphism and limb-abnormalities. Methods Review Medical Records in a patient with Diagnosis of Bruton Disease and Moebius Syndrome and review of cases in the literature. Case: Male patient, 15 years of age, a first borne from a normally evolved pregnancy, and no consanguinity data. There were some craniofacial dysmorphic features observed; severe lagofthalmus, lack of palpable lymph nodes and tonsils, difficulty swallowing, facial palsy, syndactyly, talipes equinovarus. Diagnosis is established as Moebius Syndrome by the department of genetics. Relatives have presented similar problems: 2 aunts and 2 uncles related to his mother had died prior to the first year of life with no specified cause. Almost since he became 3 years of age, has shown symptoms of rhinosinusitis, pneumonia, osteomyelitis in right knee caused by several pathogens as S. aureus and H. Influenzae, lack of weight and length, and multiple stays at the hospital. Serum IgG was 37.3 mg/dL, IgA < 23 mg/dL, IgM < 17.9 mg/dL, IgE < 14.2 IU/mL. The total lymphocytes (cells/Microliter) were 3203; T lymphocytes 80%, CD8 44%, CD4 34%, ratio CD4/CD8 0.78, CD56 8%, CD19 0 %, CD20 2%, CD22 2%. Treatment begins with intravenous gammaglobulin in replacement dosage. Results According to review the literature and data base, Mendelian Inheritance in Man, from the Johns Hopkins University, there is not known association between Bruton Disease and Moebius Syndrome. However, we consider important to report the coexistence of these diseases in one single patient. The karyotype should be studies in order to determine in a more objective way the probable link between both. Conclusions Since there are not previous reports of the association between X-linked Agammaglobulinemia and Moebius Syndrome this might set the precedent for a better knowledge and its implications to the future.

Ortega-Cisneros, Margarita; Cortes-Grimaldo, Rosa Maria; Madrigal, Ileana; Montano-Gonzalez, Efrain; Enriqueta Nunez-Nunez, Maria; Mendez-Santillan, Sergio; Garcia-Reyes, Guadalupe; Torres-Lozano, Carlos; Garcia-Cobas, Cecy

2012-01-01

276

Rituximab for refractory cases of childhood nephrotic syndrome.  

PubMed

Rituximab has been used over the last decade as a rescue therapy for refractory cases of nephrotic syndrome (NS). Here we report the use of rituximab in four children with idiopathic steroid-resistant nephrotic syndrome (SRNS) with various histological backgrounds (two cases with focal segmental glomerulosclerosis, one case with IgM nephropathy, and one case with minimal change disease), who failed to respond to other immunsuppressions. Their median age (range) was 10 (8-11) years. NPHS2 genetic mutation was negative in all of them. All patients received a single dose of rituximab (375 mg/m(2)) and achieved complete B cell depletion as CD19 was <1% for 3 months following rituximab infusion. Only one patient achieved non-sustained remission as he relapsed after 4 months despite zero CD19 level. Patients received no further doses of rituximab as B cell was depleted in the peripheral circulation. We conclude that a single dose of rituximab was not effective in inducing sustained remission in children with idiopathic SRNS, despite complete B cell depletion in the peripheral circulation. Further doses might be indicated to deplete non-circulating B cells. PMID:21279725

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

2011-01-31

277

Pervasive refusal syndrome. Three German cases provide further illustration.  

PubMed

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

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

2011-09-01

278

[Late onset Ondine syndrome: literature review on a case report].  

PubMed

Ondine syndrome is the central congenital hypoventilation syndrome (CCHS) caused by the mutation of the PHOX2B gene. In late onset cases, the symptomatology often appears after an acute event (infection, general anesthesia, drug intake), increasing hypoventilation. We report a case of late onset Ondine curse in a 9-year-old girl. The diagnosis was made based on a hypercapnic coma complicating a respiratory infection caused by Mycoplasma pneumoniae and was confirmed by genetic testing. In the patient's history we found symptoms that had not been noted (e.g., enuresis, morning headache, adynamia), attesting to chronic hypoventilation. Through this observation, we review the literature on CCHS, notably late onset cases, which are rare and insidious, emphasizing the pre-existing hypoventilation symptoms in this child. This case underlines the need for all practitioners not to trivialize these symptoms so as to decrease the current delay in diagnosis for late onset CCHS and to introduce optimal care as soon as possible. PMID:23037578

Butin, M; Labbé, G; Vrielynck, S; Franco, P; Massenavette, B; Bellon, G; Reix, P

2012-10-01

279

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.

2012-01-01

280

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

PubMed

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

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

2012-10-18

281

Walker-Warburg syndrome. Report of two cases.  

PubMed

The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD). They were studied in their clinical, laboratory, and neuroradiologic features. The index case had a brain magnetic resonance imaging (MRI) and the second patient had a head computerized tomography (CT). In addition, a literature review was performed to describe the main forms of CMD. The index case fulfilled all criteria for WWS. A brain MRI performed at age 4 months served to corroborate the clinical diagnosis, showing severe hydrocephalus, type II lissencephaly, cerebellar vermian aplasia, and a hypoplastic brain stem. The authors were able to establish a retrospective diagnosis of WWS in the index case's older sister, based upon her clinical picture and head CT report. PMID:10667295

Vasconcelos, M M; Guedes, C R; Domingues, R C; Vianna, R N; Sotero, M; Vieira, M M

1999-09-01

282

Ocular motor dysfunction in parry-romberg syndrome: four cases.  

PubMed

The authors describe four patients with Parry-Romberg syndrome (PRS) who had abnormal eye movements, ptosis, and facial hemiatrophy. There were delays in diagnosis in all cases, often requiring multiple imaging studies, prior to diagnosis of PRS. These cases demonstrate the variable ophthalmic manifestations of PRS, which can lead to difficulty in diagnosis. Case 1 was a 23-year-old woman with lateral rectus paresis who presented with horizontal diplopia and developed ptosis and facial hemiatrophy. Case 2 was a 28-year-old woman with medial rectus weakness adjusted to diplopia by head turn and gaze preference. Case 3 was a 68-year-old woman who presented with dry eye symptoms and was noted to prefer right gaze and have left hemifacial atrophy. Case 4 was a 68-year-old woman who presented with ptosis, enophthalmos, and restriction of up gaze. The ocular motor defect in all of these cases is best explained by muscle fibrosis rather than nerve paresis. PMID:22149072

Prescott, Christina R; Hasbani, M Joshua; Levada, Andrew J; Silbert, Jonathan E; Winterkorn, Jacqueline M S; Lesser, Robert L

2011-12-06

283

Case report: comprehensive management of medial tibial stress syndrome  

PubMed Central

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

Krenner, Bernard John

2002-01-01

284

Case report: comprehensive management of medial tibial stress syndrome.  

PubMed

Activity or exercise-induced leg pain is a common complication among competitive and "weekend warrior" athletes. Shin splints is a term that has been used to describe all lower leg pain as a result of activity. There are many different causes of "shin splints," one of which is medial tibial stress syndrome, and the treating clinician must be aware of potentially serious causes of activity related leg pain. Restoring proper biomechanics to the entire kinetic chain and rehabilitation of the injured area should be the primary aim of treatment to optimize shock absorption. The role inflammation plays in medial tibial stress syndrome is controversial, but in this case, seemed to be a causative factor as symptomatology was dramatically decreased with the addition of proteolytic enzymes. Medial tibial stress syndrome can be quite difficult to treat and keeping athletes away from activities that will slow healing or aggravate the condition can be challenging. "Active" rest is the best way in which to allow proper healing while allowing the athlete to maintain their fitness. PMID:19674573

Krenner, Bernard John

2002-01-01

285

Slipping Rib Syndrome in a Collegiate Swimmer: A Case Report  

PubMed Central

Objective: To present the unique case of a collegiate swimmer who experienced nearly 9 months of unresolved rib pain. Background: A 20-year-old collegiate swimmer was jumping up and down, warming up before a race, when she experienced pain in the area of her left lower rib cage. She completed the event and 2 additional events that day with moderate discomfort. The athlete was evaluated by a certified athletic trainer 3 days postinjury and followed up over the next 9 months with the team physician, a chiropractor, a nonsurgical sports medicine physician, and a thoracic surgeon. Differential Diagnosis: Intercostal strain, oblique strain, fractured rib, somatic dysfunction, hepatosplenic conditions, pleuritic chest pain, slipping rib syndrome. Treatment: The athlete underwent 4 months of conservative treatment (eg, activity modification, ice, ultrasound, hot packs, nonsteroidal anti-inflammatory drugs) after the injury, independently sought chiropractic intervention (12 treatments) 4 to 6 months postinjury, was referred to physical therapy (10 visits) by a nonsurgical sports medicine physician 6 to 8 months postinjury, and finally underwent surgical intervention 9 months after the onset of the initial symptoms. Uniqueness: Slipping rib syndrome was first described in 1919. However, many health care professionals who are involved with diagnosing and treating athletes and active individuals (eg, athletic trainers, physicians) are relatively unfamiliar with this musculoskeletal condition. Conclusions: It is important for clinicians and team physicians to familiarize themselves with and consider the diagnosis of slipping rib syndrome when assessing and managing individuals with persistent abdominal and/or thoracic pain.

Udermann, Brian E; Cavanaugh, Daniel G; Gibson, Mark H; Doberstein, Scott T; Mayer, John M; Murray, Steven R

2005-01-01

286

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

PubMed

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

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

2010-01-01

287

[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

288

Parsonage-Turner syndrome-case report and literature review.  

PubMed

Parsonage-Turner syndrome is the term used to describe a neuritis involving the brachial plexus. It may present with symptoms of an isolated peripheral nerve lesion, although the pathology is thought to lie more proximally. A case describing an isolated anterior interosseus nerve palsy due to an acute brachial neuritis is presented where the electromyographic findings confirmed the diagnosis, but also demonstrated the coexistence of a dual pathology in the form of a cervical radiculopathy. The literature is reviewed regarding etiology, treatment, and prognosis. PMID:18780056

Hussey, A J; O'Brien, C P; Regan, P J

2007-07-04

289

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

290

[Case of abdominal compartment syndrome (ACS) associated with perforating appendicitis].  

PubMed

A 4-year-old girl with perforating appendicitis developed abdominal compartment syndrome (ACS). Appendicitis in children of preschool age is highly likely to rupture, resulting in serious condition. Although we gave priority to systemic management in this ACS case since the child showed disturbed consciousness due to intracranial hypertension as well as hypercytokinemic encephalopathy. However, we should have performed abdominal decompression by laparotomy early. ACS causes progressive multiple organ failure through compromising the respiratory and circulatory systems and injuring multiple organs, leading to generalized inflammatory reactions. We should, therefore, manage ACS patients systemically sharing a notion that they must be treated early with abdominal decompression by laparotomy. PMID:22991820

Ando, Yumi; Sakamoto, Miki; Yokozuka, Makito; Takabayashi, Reina; Tateda, Takeshi

2012-08-01

291

Amiodarone-induced pulmonary toxicity: case study with syndrome analysis.  

PubMed

Amiodarone is often prescribed for the control of atrial and ventricular arrhythmias. While generally effective, the potential for a variety of side effects is substantial. Pulmonary toxicity, leading to acute or chronic respiratory failure, manifests with cough, dyspnea, infiltrates on chest radiograph, and a potential for progression to death. Although routinely cited as an adverse effect of amiodarone, it is relatively rare in terms of statistical incidence. In an effort to shed light on this syndrome, we present a stereotypical case study in amiodarone-induced pulmonary toxicity, as a prelude to a review of theorized pathophysiology, epidemiology, clinical presentation, diagnosis, therapeutics, monitoring recommendations, and areas for future research. PMID:23835168

Van Cott, Theodore E; Yehle, Karen S; DeCrane, Susan K; Thorlton, Janet R

292

[Compartment syndrome in parenteral drug addicts: report of 2 cases].  

PubMed

Two cases of multiple compartment syndrome in two male patients with history of drug and alcohol abuse are here reported. The clinical picture, course, therapy and sequelae are described and a special emphasis is placed on triggering causes. Given the increasing number of patients presenting to the Emergency Departments with history of overdose and in comatose status, an early clinical suspicion of these pictures is worth noting to avoid severe sequelae which, if not treated early, are irreversible and lead to permanent disability. PMID:10230294

Lión Vázquez, S; Castiella Muruzábal, S

1999-03-01

293

Parsonage-Turner Syndrome--Case Report and Literature Review  

PubMed Central

Parsonage–Turner syndrome is the term used to describe a neuritis involving the brachial plexus. It may present with symptoms of an isolated peripheral nerve lesion, although the pathology is thought to lie more proximally. A case describing an isolated anterior interosseus nerve palsy due to an acute brachial neuritis is presented where the electromyographic findings confirmed the diagnosis, but also demonstrated the coexistence of a dual pathology in the form of a cervical radiculopathy. The literature is reviewed regarding etiology, treatment, and prognosis.

Hussey, A. J.; O'Brien, C. P.

2007-01-01

294

Eagle's syndrome - A case report and review of the literature  

PubMed Central

Eagle’s syndrome (ES) occurs when an elongated styloid process or calcified stylohyoid ligament causes recurrent throat pain or foreign body sensation, dysphagia, or facial pain. Additional symptoms may include neck or throat pain with radiation to the ipsilateral ear. The symptoms related to this condition can be confused with those attributed to a wide variety of facial neuralgias. ES can be diagnosed radiologically and by physical examination. The treatment of ES is primarily surgical. The styloid process can be shortened through an intraoral or external approach. In this paper a case of ES exhibiting unilateral symptoms with bilateral elongation of styloid process is reported and the literature is reviewed.

Khandelwal, Suneet; Hada, Yajuvender Singh; Harsh, Ashutosh

2010-01-01

295

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.

2012-01-01

296

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

2010-01-05

297

Kearns-Sayre syndrome. A case of the complete syndrome with encephalic leukodystrophy and calcification of basal ganglia  

Microsoft Academic Search

A case of a complete Kearns-Sayre syndrome, of early onset, associated with cerebral and cerebellar leukodystrophy and basal ganglia calcification is reported. The clinical, neurophysiological and morphological findings suggest multisystem involvement.

P. Carboni; M. Giacanelli; G. Porro; G. Sideri; A. Paolella

1981-01-01

298

Spontaneous cerebrospinal fluid leak syndrome: report of 18 cases  

Microsoft Academic Search

We examined a group of 18 consecutive patients with spontaneous cerebrospinal fluid leak syndrome (SCSFLS) and investigated clinical, MRI, radioisotope findings and therapeutic outcome of this syndrome.

E. Ferrante; R. Wetzl; A. Savino; A. Citterio; A. Protti

2004-01-01

299

Encephalofacial angiomatosis (Sturge-Weber syndrome): report of three cases.  

PubMed

The purpose is to show and discuss the findings in three cases of Sturge-Weber syndrome. One adult and two children were examined in the last three years. The girl was scanned after diode laser treatment for her right eye glaucoma. Ultrasonographic examinations were performed with 20- and 25-MHz probes (nominal frequencies) for posterior pole and 35-MHz probe (closed system, HiScan Optikon 2000, Rome, Italy) for anterior segment. All cases were characterized by choroid thickening due to capillary hemangioma. The thickening was not regular and the use of 25-MHz probe proved superior in visualizing the two layers (choroid vs. sclera), showing a striking reflectivity difference between them. All cases also showed enlarged vortex veins and some anomalous vessels adjacent to the external surface of the sclera, i.e. posterior episcleral dilated vessels. In one case only, very anomalous tortuous vessels were found in the orbit. Disk cupping and/ or pseudo cupping was always present in all cases; in the oldest patient only, who had a thinner choroid, it was possible to display a concave bottom of the cup instead of the straight, small, highly reflective segment representing the cribrosa. Serous retinal and choroid detachments were present as temporary complications after glaucoma treatment. In conclusion, choroid, facial and encephalon involvement in Sturge-Weber syndrome is widely described in ocular oncology books, whereas by far less attention is paid to orbital involvement. Anterior dilated episcleral vessels are visible and till now the posterior vessel involvement has only been demonstrated in some pathology specimens. PMID:23431731

Simonini, Vincenzina Mazzeo; Lodi, Laura

2012-12-01

300

Aspiration pneumonia in the child with DiGeorge syndrome -A case report-  

PubMed Central

DiGeorge syndrome is associated with a chromosome 22q11.2 deletion and manifests with variable clinical findings. Aspiration pneumonia can be a perioperative complication of great concern in this syndrome. In this report, we present a case of a 16-month old child with DiGeorge syndrome undergoing cranioplasty. He developed perioperative aspiration pneumonia but was managed successfully.

Han, Yun-Joung

2011-01-01

301

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

PubMed Central

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

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

2009-01-01

302

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

PubMed Central

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

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

2013-01-01

303

Tourette syndrome: clinical and psychological aspects of 250 cases.  

PubMed Central

Tourette syndrome is a common hereditary neuropsychiatric disorder consisting of multiple tics and vocal noises. We summarize here clinical aspects of 250 consecutive cases seen over a period of 3 years. The sex ratio was four males to one female, and the mean age of onset was 6.9 years. Only 10% were Jewish, indicating that it is not more prevalent in Ashkenazi Jews. Only 33% had compulsive swearing (coprolalia), indicating that this is not necessary for the diagnosis. The most frequent initial symptoms were rapid eye-blinking, facial grimacing, and throat-clearing. In this series, it was clear that Tourette syndrome is a psychiatric as well as a neurological disorder. Significant discipline problems and/or problems with anger and violence occurred in 61%, and 54% had attention-deficit disorder with hyperactivity. Some degree of exhibitionism was present in 15.9% of males and 6.1% of females. Obsessive-compulsive behavior was seen in 32%. Other than tics and vocal noises, the most common parental complaints were of short temper and everything being a confrontation. There were no significant clinical differences between familial and sporadic cases. Whenever a child presents with a learning disorder, attention-deficit disorder, or significant discipline or emotional problems, the parents should be questioned about the presence of tics or vocal noises in the patient and other family members.

Comings, D E; Comings, B G

1985-01-01

304

Acrocallosal syndrome: a case report and literature survey.  

PubMed

Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis of the corpus callosum, polysyndactyly, polydactyly, and mental retardation. Limited information concerning the dental development and treatment has been published. In addition to the classic facial deformities aforementioned, the other most commonly reported oral findings are: short philtrum/upper lip (30%); high-arched palate (30%); cleft lip/palate (20%); micro/retrognathia (13%); open mouth (15%); thin lips (11%); and 1 report of over-retained primary teeth. Seizure disorders are also a common finding due to the neuroanatomical deformities associated with this disorder. The purpose of this report was to describe the case of a 7-year-old male child with acrocallosal syndrome who presented with a cleft lip and palate, hydrocephalus, a seizure disorder, and delayed exfoliation of his primary dentition and was observed for 4 years. A review is conducted to present the pertinent medical literature concerning the oral findings associated with ACS. Dental management of this case and possible contributing factors of delayed exfoliation/permanent tooth eruption are also discussed. PMID:19619433

Hodgson, Brian D; Davies, Lindsey; Gonzalez, Cesar D

305

Tourette syndrome: clinical and psychological aspects of 250 cases.  

PubMed

Tourette syndrome is a common hereditary neuropsychiatric disorder consisting of multiple tics and vocal noises. We summarize here clinical aspects of 250 consecutive cases seen over a period of 3 years. The sex ratio was four males to one female, and the mean age of onset was 6.9 years. Only 10% were Jewish, indicating that it is not more prevalent in Ashkenazi Jews. Only 33% had compulsive swearing (coprolalia), indicating that this is not necessary for the diagnosis. The most frequent initial symptoms were rapid eye-blinking, facial grimacing, and throat-clearing. In this series, it was clear that Tourette syndrome is a psychiatric as well as a neurological disorder. Significant discipline problems and/or problems with anger and violence occurred in 61%, and 54% had attention-deficit disorder with hyperactivity. Some degree of exhibitionism was present in 15.9% of males and 6.1% of females. Obsessive-compulsive behavior was seen in 32%. Other than tics and vocal noises, the most common parental complaints were of short temper and everything being a confrontation. There were no significant clinical differences between familial and sporadic cases. Whenever a child presents with a learning disorder, attention-deficit disorder, or significant discipline or emotional problems, the parents should be questioned about the presence of tics or vocal noises in the patient and other family members. PMID:3859204

Comings, D E; Comings, B G

1985-05-01

306

[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

2011-10-02

307

Amniotic band syndrome with persistent sciatic artery: a case report.  

PubMed

Amniotic band syndrome (ABS) has an incidence of 1/15,000. Deformities vary from rare but bizarre craniofacial defects or truncal defects to the commoner limb defects. The pathogenesis of ABS remains controversial. The following is a case of a 3-month-old infant with amniotic band syndrome with the typical limb reduction defects, a constriction band on the thigh associated with a persistent sciatic artery and bifurcation of the femur and the duplication of the knee and tibia on the contra lateral side. The anatomy of the persistent sciatic artery is demonstrated in magnetic resonance angiography and digital subtraction angiography. The vascular anomaly was unilateral. The patient underwent surgical correction of the constriction band by excision and multiple Z plasty. This case is the first description of the coexistence of ABS and persistent sciatic artery. Persistent sciatic artery has angiographic incidence of 0.05%. Is this purely a coincidence? Or perhaps their coexistence may serve to further the understanding of the mechanism of ABS. PMID:18948784

Daya, Mahendra

2008-11-01

308

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

PubMed

Emerging clinical data indicate that dopaminergic agonists used to treat restless legs syndrome may be associated with dopamine dysregulation syndrome, particularly pathological gambling. We report a new case with pathological gambling plus hypersexuality and impotence in an old patient treated with a small dose (0.18 mg daily at bedtime) of pramipexole for restless legs syndrome for 5 months. The time relationship and the resolution upon discontinuation of dopaminergic agonists suggest a causative association. Our new case confirms that restless legs syndrome patients should be cautioned about potential dopamine dysregulation syndrome coinciding with dopaminergic agonists, as it can be reversed by drug withdrawal. PMID:21567182

d'Orsi, Giuseppe; Demaio, Vincenzo; Specchio, L M

2011-05-13

309

Six new cases of a caterpillar-induced bleeding syndrome.  

PubMed

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

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

1992-04-01

310

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

PubMed

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

Giconi, Stephanie S

2013-02-01

311

A case of neuromyelitis optica with locked-in syndrome.  

PubMed

We report a case of a 40 years old male who presented with ascending weakness and sphincter involvement. While in hospital, he became quadriplegic and developed bifacial weakness and frozen eyes. He was fully conscious and was obeying commands by blinking. MR scan showed diffuse hyperintense T2 signal change from the mid brain up to the conus medullaris. Lumbar puncture showed pleocytosis with low glucose ratio. Oligoclonal bands were absent. Infectious screen was negative. Serum aquaporin 4 antibodies were positive. Patient showed a significant response to a course of plasma exchange and steroids. He was subsequently started on mycophenolate as a disease-modifying agent. This is the first reported case of Neuromyelitis Optica (NMO) with locked-in syndrome. PMID:24108966

Sharaf, Nazar; Gosal, David

2013-11-01

312

Ciliopathies  

PubMed Central

Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet–Biedl syndrome, the Joubert syndrome, and the Meckel syndrome may be categorized as ciliopathies — a recent concept that describes diseases characterized by dysfunction of a hairlike cellular organelle called the cilium. Most of the proteins that are altered in these single-gene disorders function at the level of the cilium–centrosome complex, which represents nature’s universal system for cellular detection and management of external signals. Cilia are microtubule-based structures found on almost all vertebrate cells. They originate from a basal body, a modified centrosome, which is the organelle that forms the spindle poles during mitosis. The important role that the cilium–centrosome complex plays in the normal function of most tissues appears to account for the involvement of multiple organ systems in ciliopathies. In this review, we consider the role of the cilium in disease.

Hildebrandt, Friedhelm; Benzing, Thomas; Katsanis, Nicholas

2013-01-01

313

A Rare Case of Cockayne Syndrome-MRI Features.  

PubMed

The Cockayne Syndrome is a rare syndrome of congenital originwhich is charcterized by growth retardation, facial dysmorphism, facial naevi,retinopathy and mental retardation, which are associated with the changes in the brain parenchyma. The findings of MRI of the brain support the clinical diagnosis of the Cockayne Syndrome. We would like to highlight the MRI findings of this rare syndrome. PMID:23285467

Mundaganur, Praveen

2012-11-01

314

A Rare Case of Cockayne Syndrome-MRI Features  

PubMed Central

The Cockayne Syndrome is a rare syndrome of congenital originwhich is charcterized by growth retardation, facial dysmorphism, facial naevi,retinopathy and mental retardation, which are associated with the changes in the brain parenchyma. The findings of MRI of the brain support the clinical diagnosis of the Cockayne Syndrome. We would like to highlight the MRI findings of this rare syndrome.

Mundaganur, Praveen

2012-01-01

315

Unusual case of contralateral Horner's syndrome following stellate-ganglion block: a case report and review of the literature  

PubMed Central

Stellate-ganglion block (SGB) is a commonly performed procedure for the treatment of numerous conditions, including upper-extremity complex regional pain syndromes and arterial insufficiency. The appropriate response to SGB includes ipsilateral Horner’s syndrome and temperature elevation of affected extremity. Contralateral and bilateral Horner’s syndrome following SGB are rarely seen, with only six prior cases reported. We describe a case of a 47-year-old female with right-hand pain secondary to Raynaud’s phenomenon who underwent SGB with subsequent contralateral Horner’s syndrome and review the literature of this rare phenomenon.

Amhaz, Hassan H; Manders, Larry; Chidiac, Elie J; Pallekonda, Vinay; Chakrabortty, Shushovan

2013-01-01

316

Slipping Rib Syndrome in a Collegiate Swimmer: A Case Report.  

PubMed

Objective: To present the unique case of a collegiate swimmer who experienced nearly 9 months of unresolved rib pain.Background: A 20-year-old collegiate swimmer was jumping up and down, warming up before a race, when she experienced pain in the area of her left lower rib cage. She completed the event and 2 additional events that day with moderate discomfort. The athlete was evaluated by a certified athletic trainer 3 days postinjury and followed up over the next 9 months with the team physician, a chiropractor, a nonsurgical sports medicine physician, and a thoracic surgeon.Differential Diagnosis: Intercostal strain, oblique strain, fractured rib, somatic dysfunction, hepatosplenic conditions, pleuritic chest pain, slipping rib syndrome.Treatment: The athlete underwent 4 months of conservative treatment (eg, activity modification, ice, ultrasound, hot packs, nonsteroidal anti-inflammatory drugs) after the injury, independently sought chiropractic intervention (12 treatments) 4 to 6 months postinjury, was referred to physical therapy (10 visits) by a nonsurgical sports medicine physician 6 to 8 months postinjury, and finally underwent surgical intervention 9 months after the onset of the initial symptoms.Uniqueness: Slipping rib syndrome was first described in 1919. However, many health care professionals who are involved with diagnosing and treating athletes and active individuals (eg, athletic trainers, physicians) are relatively unfamiliar with this musculoskeletal condition.Conclusions: It is important for clinicians and team physicians to familiarize themselves with and consider the diagnosis of slipping rib syndrome when assessing and managing individuals with persistent abdominal and/or thoracic pain. PMID:15970959

Udermann, Brian E; Cavanaugh, Daniel G; Gibson, Mark H; Doberstein, Scott T; Mayer, John M; Murray, Steven R

2005-06-01

317

Kocher debre semelaigne syndrome: a rare case report with orofacial manifestations.  

PubMed

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

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

2013-03-01

318

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

PubMed Central

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

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

2013-01-01

319

Multicystic kidney dysplasia and Turner syndrome: two cases and a literature review  

Microsoft Academic Search

Renal malformations occur in 33%–70% of cases of Turner syndrome (chromosome 45 and variants). We describe two cases of multicystic\\u000a dysplastic kidney in Turner syndrome. A literature review of renal abnormalities in Turner syndrome shows the frequency of\\u000a cystic disease to be 1.76%. In multicystic dysplastic kidney, diagnostic investigation of the contralateral kidney, including\\u000a voiding cystourethrography, is necessary in view

V. Fanos; S. Schena; A. Dal Moro; A. Portuese; F. Antoniazzi

2000-01-01

320

Sleep-related eating disorder: a case report of a progressed night eating syndrome.  

PubMed

Night eating syndrome is a common disorder in eating behaviors that occurs in close relation to the night time sleep cycle. Although eating disorders are common in society, night eating syndrome has been left neglected by health care professionals. In this report we present a case of eating disorder that exhibits some novel features of night eating syndrome. Our case was a progressed type of eating disorder which may increase awareness among physicians about sleep-related eating disorders. PMID:22930387

Shoar, Saeed; Naderan, Mohammad; Shoar, Nasrin; Dehpour, Ahmad Reza; Khorgami, Zhamak; Hoseini, Sayed Shahabuddin

2012-01-01

321

[SMART syndrome: case report of a rare complication after cerebral radiation therapy].  

PubMed

The authors report a 71-year-old woman case who developed, 7 years after a cerebral radiation therapy for a parietooccipital glioblastoma, a stroke-like migraine attacks after radiotherapy syndrome (SMART syndrome), a rare complication characterized by reversible neurologic deficits with migraine described after cerebral irradiation. Transient gyriform reversible enhancement is found on MRI during crises. This case report allows discussing the clinical, iconographic presentation and the clinical outcome of this syndrome at the light of the literature publication. PMID:22819470

Truntzer, P; Monjour, A; Gaultier, C; Ahle, G; Guillerme, F; Boutenbat, G; Stilhart, B; Salze, P; Atlani, D

2012-07-20

322

A case of congenital adrenal hyperplasia mimicking Cushing's syndrome.  

PubMed

Congenital adrenal hyperplasia (CAH) is characterized by decreased adrenal hormone production due to enzymatic defects and subsequent rise of adrenocorticotrophic hormone that stimulates the adrenal cortex to become hyperplastic, and sometimes tumorous. As the pathophysiology is basically a defect in the biosynthesis of cortisol, one may not consider CAH in patients with hypercortisolism. We report a case of a 41-yr-old man with a 4 cm-sized left adrenal tumorous lesion mimicking Cushing's syndrome who was diagnosed with CAH. He had central obesity and acanthosis nigricans involving the axillae together with elevated 24-hr urine cortisol level, supporting the diagnosis of Cushing's syndrome. However, the 24-hr urine cortisol was suppressed by 95% with the low dose dexamethasone suppression test. CAH was suspected based on the history of precocious puberty, short stature and a profound suppression of cortisol production by dexamethasone. CAH was confirmed by a remarkably increased level of serum 17-hydroxyprogesterone level. Gene mutation analysis revealed a compound heterozygote mutation of CYP21A2 (I173N and R357W). PMID:23166432

Kim, Hye Jeong; Kang, Mira; Kim, Jae Hyeon; Kim, Sun Wook; Chung, Jae Hoon; Min, Yong-Ki; Lee, Moon-Kyu; Kim, Kwang-Won; Lee, Myung-Shik

2012-10-30

323

[Shoulder-hand syndrome after stroke: a case report].  

PubMed

A case of shoulder-hand syndrome (algodystrophy, reflex sympathetic dystrophy) in a stroke patient is presented. Six weeks after stroke the condition started with pain, swelling and considerable reduction of movements of the hand and wrist followed by involvement of shoulder joint a few days later. Initially, the complaints were attributed to excessive rehabilitation, however, when cessation of exercises and anti-inflammatory treatment failed to improve, the diagnosis of shoulder-hand syndrome was suspected. Three phase bone scintigraphy performed 2 weeks after the onset of symptoms revealed features of possible algodystrophy. X-ray revealed no significant changes. The patient satisfactory responded to nasal salmon calcitonin treatment 300 units daily during 4 weeks. The reassessment performed 3 months after the onset of disease showed regression of most signs and symptoms as well as satisfactory range of motion of the hand and shoulder. Bone scintigraphy revealed typical algodystrophy pattern (diffusely increased periarticular uptake). The cause of such evolution of scintigraphic changes as well as some implications of nasal calcitonin administration were discussed. PMID:10399736

Zyluk, A; Zyluk, B

324

A Rare Case of Noninsulinoma Pancreatogenous Hypoglycemia Syndrome  

PubMed Central

As the obesity pandemic continues to worsen and medical interventions remain only moderately effective, bariatric surgery remains an important option for patients. In certain instances, patients who have undergone the procedure experience postprandial symptoms of neuroglycopenia caused by noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS). NIPHS is a recently described syndrome and is also very rare, and therapeutic approaches are still under debate. We report the case of a 51-year-old female who underwent Roux-en-Y gastric bypass and presented with episodic postprandial hypoglycemia 2 years after surgery. An insulinoma was absent from all abdominal imaging. Fasting C-peptide, insulin, and glucose were normal. Due to the possibility of NIPHS, clinical treatment was commenced with acarbose, leading to a significant reduction of hypoglycemic episodes. NIPHS occurs in approximately 0.5% to 7% of patients with hyperinsulinemic hypoglycemia. Sporadic hypoglycemia postgastric bypass is an important entity that should be understood by all surgeons and internists who are involved in postgastric bypass care.

Nadelson, Jeffrey; Epstein, Alan

2012-01-01

325

A Case of Congenital Adrenal Hyperplasia Mimicking Cushing's Syndrome  

PubMed Central

Congenital adrenal hyperplasia (CAH) is characterized by decreased adrenal hormone production due to enzymatic defects and subsequent rise of adrenocorticotrophic hormone that stimulates the adrenal cortex to become hyperplastic, and sometimes tumorous. As the pathophysiology is basically a defect in the biosynthesis of cortisol, one may not consider CAH in patients with hypercortisolism. We report a case of a 41-yr-old man with a 4 cm-sized left adrenal tumorous lesion mimicking Cushing's syndrome who was diagnosed with CAH. He had central obesity and acanthosis nigricans involving the axillae together with elevated 24-hr urine cortisol level, supporting the diagnosis of Cushing's syndrome. However, the 24-hr urine cortisol was suppressed by 95% with the low dose dexamethasone suppression test. CAH was suspected based on the history of precocious puberty, short stature and a profound suppression of cortisol production by dexamethasone. CAH was confirmed by a remarkably increased level of serum 17-hydroxyprogesterone level. Gene mutation analysis revealed a compound heterozygote mutation of CYP21A2 (I173N and R357W).

Kim, Hye Jeong; Kang, Mira; Kim, Jae Hyeon; Kim, Sun Wook; Chung, Jae Hoon; Min, Yong-Ki; Lee, Moon-Kyu; Kim, Kwang-Won

2012-01-01

326

Diffuse arterial aneurysms in a case of Ehlers-Danlos syndrome--a case report.  

PubMed

A three-year-old boy with the diagnosis of Ehlers-Danlos syndrome (EDS) with persistent ductus arteriosus and multiple diffuse arterial aneurysms is presented. The case is classified as "EDS type unknown" because the clinical features and the inheritance pattern differ from the types described previously. It is stressed that the diagnosis of the disease is important for genetic counseling and surgical intervention. PMID:8239063

Olguntürk, F R; Tunaoglu, F S; Gümüs, H; Beyazova, U; Türkyilmaz, C

1993-11-01

327

[Development and treatment of anorexia nervosa in patients with Turner syndrome. A case study].  

PubMed

summary We describe the case of a girl with Turner syndrome who has also developed anorexia nervosa. According to the available literature, patients with Turner syndrome do not have an increased risk of developing anorexia nervosa. However, if such comorbidity should occur, as it did in our case, then some aspects of treatment will have to be adjusted. PMID:17370225

Callewaert, T; Vandereycken, W

2007-01-01

328

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

ERIC Educational Resources Information Center

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

Lotan, Meir; Roth, Dana

329

Evans’ syndrome in pregnancy: A systematic literature review and two new cases  

Microsoft Academic Search

Evans’ syndrome, the coexistence of immune thrombocytopenia (ITP) with autoimmune haemolytic anaemia (AIHA), is rare in pregnancy, with a few published cases. Concerns about the teratogenic effect of pharmacological agents used in the management of Evans’ syndrome limit the treatment options in pregnancy. In this paper we performed a systematic review of the literature of all published cases with Evans’

Eleftheria Lefkou; Catherine Nelson-Piercy; Beverley J. Hunt

2010-01-01

330

[Acute respiratory distress syndrome caused by tropical eosinophilic lung disease: a case in Gabon].  

PubMed

The purpose of this report is to describe the case of a 28-year-old woman in whom acute respiratory distress syndrome (ARDS) following cholecystectomy led to the discovery of eosinophilic lung disease. Outcome was favorable after oxygenotherapy and medical treatment using ivermectin and corticosteroids. The case shows that hypereosinophilic syndrome can be the underlying cause of ARDS. PMID:21695880

Chani, M; Iken, M; Eljahiri, Y; Nzenze, J R; Mion, G

2011-04-01

331

A postmenopausal woman presenting with Ekbom syndrome associated with recurrent depressive disorder: a case report  

Microsoft Academic Search

BACKGROUND: Ekbom syndrome is a rare psychiatric disorder that can manifest as a delusion, overvalued idea or hallucination of parasitic infestations. It is more prevalent in postmenopausal women and patients are usually seeking dermatology rather than psychiatry consultation for their symptoms. CASE PRESENTATION: We present a case of Ekbom syndrome associated with recurrent depressive disorder in an elderly patient. The

Courtney Mahler; Glenda MacQueen; Zainab Samaan

2008-01-01

332

A case of Lemierre's syndrome following Epstein–Barr virus infection  

Microsoft Academic Search

Lemierre's syndrome, or necrobacillosis, is a life-threatening septic thrombophlebitis of the internal jugular vein. The causative organism is Fusobacterium necrophorum. Here we report a case of Lemierre's syndrome in a young male and describe the clinical presentations and treatment. Epstein–Barr virus (EBV) was a suspected predisposing factor in this case.

G. A. Boz; S. Iskender; R. Caylan; K. Aydin; I. Koksal

2005-01-01

333

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

2007-09-06

334

Milwaukee shoulder syndrome associated with pigmented villonodular synovitis. Case report.  

PubMed

Milwaukee shoulder syndrome (MSS) describes a destructive shoulder arthropathy associated with of calcium hydroxyapatite and calcium pyrophosphate dihydrate crystals deposition found mainly in elderly women. Pigmented villonodular synovitis (PVNS) is a benign proliferative disorder of the synovium usually seen in young adults, found frequently in the knee joint. We present the case of a 63 year old Caucasian woman admitted for severe swelling of the left shoulder and mild pain, with 10 years history. Clinical signs, laboratory tests, imaging studies, and histopathological examinations established the diagnosis of MSS associated with PVNS. Surgical partial synoviectomy followed by radiotherapy (total dose 36 Gy) was considered with local improvement. This is the first report in literature about this association. PMID:22396943

Popov, Horatiu I; Gherman, Claudia; Rogojan, Liliana; Botar-Jid, Carolina; Barna, Cristina; Fodor, Daniela

2012-03-01

335

[Autoimmune multiglandular syndrome type I--a case study].  

PubMed

We have described a case of a rare autoimmune disease, called autoimmune polyglandular syndrome type I (APS type I), in a 44-year-old woman. APS type I is an autosomal recessively inherited disorder, connected with mutations in AIRE (autoimmune regulator) gene. Subsequently, autoantibodies directed towards tissue-specific enzymes are produced, which causes destruction of multiple tissues and organs, first of all--endocrine glands. In the described woman, primary hypoparathyroidism occurred in childhood. Addison disease, chronic candidiasis of the nails and vitiligo developed in adolescence. Before she was 30, a premature ovarian failure, and axilla and pubis alopecia occurred. The last recognized disorders were cholelithiasis and candidiasis of oesophagus. The late diagnosis resulted in numerous complications of the disease and the patient's life quality impairment. PMID:15771137

Dunajska, Katarzyna; Szymczak, Jadwiga

2004-12-01

336

Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report  

PubMed Central

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

Rincon-Sanchez, Ana Rosa; Arce, Irma Elia; Tostado-Rabago, Enrique Alejandro; Vargas, Alberto; Padilla-Gomez, Luis Alfredo; Bolanos, Alejandro; Barrios-Guyot, Selenne; Anguiano-Alvarez, Victor Manuel; Ledezma-Rodriguez, Victor Chistian; Islas-Carbajal, Maria Cristina; Rivas-Estilla, Ana Maria; Feria-Velasco, Alfredo; Davalos, Nory Omayra

2012-01-01

337

First case report of turcot syndrome type 1 in Colombia.  

PubMed

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 Kras(Asp12) 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

2012-12-18

338

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.

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

2012-01-01

339

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.

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

2012-01-01

340

Pontine warning syndrome: case series and review of literature.  

PubMed

Crescendo transient ischemic attacks (TIAs) are defined as repeated frequent short-lasting episodes of focal neurologic deficit due to cerebral ischemia. The capsular warning syndrome, a subset of crescendo TIA, consists of repetitive episodes of motor dysfunction due to ischemia in the region of internal capsule. It is not clear that patients with ischemia in the pons can have a similar clinical presentation and course. We report 11 cases presenting with crescendo TIA in the form of pure motor hemiparesis or ataxic hemiparesis that later proved to have a paramedian pontine infarct. The presumed mechanism of these infarcts is penetrating basilar artery branch occlusion at their origin, also called basilar branch disease. PMID:20444624

Muengtaweepongsa, Sombat; Singh, Niranjan N; Cruz-Flores, Salvador

2010-05-04

341

Joubert syndrome: review and report of seven new cases.  

PubMed

Joubert syndrome (JS) is an autosomal-recessive disorder, characterized by hypotonia, ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and duodenal atresia. Even within siblings the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of JS. We review the clinical characteristics of seven cases that fulfill the criteria of JS. PMID:15272893

Kumandas, S; Akcakus, M; Coskun, A; Gumus, H

2004-08-01

342

Familial trend in polycystic ovarian syndrome: Report of two cases.  

PubMed

Polycystic ovarian syndrome (PCOS) is an endocrine disorder with a strong genetic component. The affected females present with anovulatory cycles, a spectrum of menstrual disorders, and features of androgen excess. We present the case of two sisters who were diagnosed with PCOS and have a family history of oligomenorrhoea in their grandmother and PCOS in their mother and sisters. They also have a family history of hypertension, diabetes mellitus, and breast mass which are known co-morbidities associated with PCOS. Both were managed successfully with ovulation induction using clomiphene citrate. PCOS could be familial as in our patients and further research is required to define the exact genetic pattern of inheritance. PMID:24005592

Joe-Kechebelu, N N; Mbamara, S U; Ikechebelu, J I

343

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

PubMed Central

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

2009-01-01

344

Nonclassical yellow nail syndrome in six-year-old girl: a case report  

PubMed Central

Introduction The yellow nail syndrome is usually described as the combination of yellow nails with lymphoedema and often with respiratory manifestations such as pleural effusions, chronic sinusitis and bronchiectasis. The syndrome is most often seen in the middle-aged individuals. Case presentation We present a 6-year-old girl with yellow nail syndrome having pansinusitis and bronchiectasis. Conclusion The components comprising the classical triad of yellow nail syndrome in children may not necessarily be present altogether. Therefore, yellow nail syndrome should be suspected in children having only typical nail changes.

2009-01-01

345

The clinical features of the Cohen syndrome: further case reports.  

PubMed Central

We report the clinical features of six patients with the Cohen syndrome. The characteristic features include mental retardation, truncal obesity, prominent incisors, and tapering digits. Pelviureteric obstruction and epilepsy are reported as possible new features of this syndrome. Images

North, C; Patton, M A; Baraitser, M; Winter, R M

1985-01-01

346

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

PubMed

We report a 72-year-old woman with overlapping Miller Fisher syndrome (MFS), Guillain-Barré syndrome (GBS) and Bickerstaff's brainstem encephalitis (BBE). She developed diplopia and unsteady gait a week after an upper respiratory infection on day 1. She had weakness of both upper limbs on day 3 and became drowsy, and her respiratory status worsened on day 5. Neurologic examination revealed ophthalmoplegia, ataxia, symmetrical weakness, areflexia, and consciousness disturbance. We diagnosed her with MFS on day 1, GBS on day 3 and overlapping BBE on day 5. She underwent immunoadsorption therapy and two courses of intravenous immunoglobulin therapy. Ten months after onset, her symptoms had fully recovered. Anti-GM1 IgG, GD1a IgG, GQ1b IgG, and GT1a IgG antibodies were positive. Our case supports the notion that MFS, GBS, and BBE are all part of a continuous clinical spectrum, which is an antibody-mediated process. PMID:23275783

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

2012-09-27

347

A Case of Fisher-Bickerstaff Syndrome Overlapped by Guillain-Barr? Syndrome  

PubMed Central

We report a 72-year-old woman with overlapping Miller Fisher syndrome (MFS), Guillain-Barré syndrome (GBS) and Bickerstaff's brainstem encephalitis (BBE). She developed diplopia and unsteady gait a week after an upper respiratory infection on day 1. She had weakness of both upper limbs on day 3 and became drowsy, and her respiratory status worsened on day 5. Neurologic examination revealed ophthalmoplegia, ataxia, symmetrical weakness, areflexia, and consciousness disturbance. We diagnosed her with MFS on day 1, GBS on day 3 and overlapping BBE on day 5. She underwent immunoadsorption therapy and two courses of intravenous immunoglobulin therapy. Ten months after onset, her symptoms had fully recovered. Anti-GM1 IgG, GD1a IgG, GQ1b IgG, and GT1a IgG antibodies were positive. Our case supports the notion that MFS, GBS, and BBE are all part of a continuous clinical spectrum, which is an antibody-mediated process.

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

2012-01-01

348

Pallister-Killian syndrome: case report with pineal tumor.  

PubMed

Pallister-Killian syndrome, an aneuploidy syndrome, comprises a characteristic facial appearance, mental retardation, and multiple other anomalies. It is caused by mosaicism with a supernumerary isochromosome 12p. This chromosomal abnormality has been reported also in human germ cell tumors. We report on a 15-year-old girl with Pallister-Killian syndrome and pineal tumor. PMID:11074499

Mauceri, L; Sorge, G; Incorpora, G; Pavone, L

2000-11-01

349

Case of Bartter Syndrome Presenting With Hypokalemic Periodic Paralysis  

Microsoft Academic Search

Hypokalemic periodic paralysis can occur secondarily to excessive potassium loss. Thyrotoxicosis, diuretic ingestions, hyperaldosteronism, barium poisoning, Gitelman syndrome, and Bartter syndrome are among the disorders causing secondary hypokalemic periodic paralysis. Clinical presentation of Bartter syndrome with hypokalemic periodic paralysis is rare. A 12-year-old boy was admitted to our hospital because of transient paralysis. He had been suffering from transient weakness

Özgür Duman; Mustafa Koyun; Sema Akman; Ayfer Gür Güven; ?enay Haspolat

2006-01-01

350

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.

2012-01-01

351

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

SciTech Connect

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

Gerhard, J.; Wang, J. [Washington Univ. School of Medicine, St. Louis, MO (United States)

1994-09-01

352

A rare case of Lemierre`s syndrome caused by Porphyromonas asaccharolytica.  

PubMed

Lemierre's syndrome is only very rarely caused by Porphyromonas asaccharolytica. Here, we report the case of a 35-year-old man who developed a left peritonsillar abscess, thrombophlebitis of the left internal jugular vein, and septic embolization of both lungs. Anaerobic P. asaccharolytica was isolated in the blood cultures, and we subsequently confirmed the diagnosis as Lemierre's syndrome. Our case indicates that although P. asaccharolytica is not commonly found in oral cavities, this organism may still cause Lemierre's syndrome. Consequently, when it is detected in blood cultures, the treating physician should perform the medical examination while keeping in mind the possibility that the patient could have Lemierre's syndrome. PMID:23435719

Takeda, K; Kenzaka, T; Morita, Y; Kuroki, S; Kajii, E

2013-02-24

353

A Rare Case of Crowned Dens Syndrome Mimicking Aseptic Meningitis  

PubMed Central

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

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

2013-01-01

354

Sensorineural hearing loss in MELAS syndrome--case report.  

PubMed

A mitochondrial tRNA mutation at nucleotide 3,243 is known to be found in most patients with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes). We report a 30 year-old female patient of MELAS, diagnosed 5 years ago, who presented herself to our ENT outpatient department because of her bilateral tinnitus and progressive hearing impairment since 4 years ago. Two sequential pure tone audiograms showed bilateral symmetrical progressive sensorineural hearing loss, especially in the high frequency area in 1993 and 1996. The pure tone average was R-45 dB, L-47 dB in 1993 and R-62 dB, L-67 dB in 1996. Hearing loss is an important feature in MELAS syndrome and reported to be seen in about 30% of patients. It is often the first clinical symptom, too. In any case, mitochondrial cytopathies need to be considered by the otologist in forming a diagnosis of sensorineural hearing loss (SNHL), particularly in cases, which present adult-onset progressive hearing loss and neurologic symptoms before 50 years of age. PMID:9780603

Chen, J N; Ho, K Y; Juan, K H

1998-08-01

355

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

PubMed

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

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

2013-03-15

356

[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

357

Axillary web syndrome following secondary breast-conserving surgery: a case report  

PubMed Central

Background Axillary web syndrome is a cause of significant morbidity in the early postoperative period after axillary surgery. Case presentation A patient developed axillary web syndrome after secondary breast surgery and recovered in 3 weeks through physical therapy and using Aescuven Forte. Discussion The pathogenesis of axillary web syndrome is not clear. It is reported that axillary surgery is the main cause. The presented case indicates that tissue injury might be an important cause of axillary web syndrome. Though axillary web syndrome is self-limiting, special physical therapy and Aescuven Forte can shorten the natural duration. Conclusion Secondary breast surgery could cause axillary web syndrome. Physical therapy and Aescuven Forte could shorten the duration of the self-limited morbidity.

2013-01-01

358

Parkinsonian syndrome associated with subacute subdural haematoma and its effective surgical treatment: a case report.  

PubMed

There have been several reports of parkinsonian syndrome arising from a mass effect from subdural haematomas. In this study, we present a case of parkinsonian syndrome caused by a subacute subdural haematoma. Evacuation of the haematoma resulted in the disappearance of parkinsonian symptoms in this case. Parkinsonism is not common complication of subdural haematoma; surgical treatment of those cases is associated with favourable outcome, without the need for antiparkinsonian medication. PMID:19618313

Giray, Semih; Sarica, Feyiz Birol; Sen, Orhan; Kizilkilic, Osman

359

Klippel-Trenaunay-Weber Syndrome with Hemimegalencephaly; Report of a Pediatric Case  

PubMed Central

Background Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare neurocutaneous syndrome. Hemimegalencephaly (HME) and seizure episodes have been reported previously in a few cases with KTWS. Case Presentation We report here a 3 day-old girl with partial motor seizures, extensive port-wine staining and mild structural deformities in the feet, and a hemimegalencephaly. Conclusion Occurrence of partial motor seizures in addition to bilateral lower extremities extensive port-wine staining is a unique feature seen in our case.

Esmailzadeh, Hossein; Tavassoli, Azita; Jahangiri N, Younes; Vatankhah, Nasibeh

2012-01-01

360

The Primary Cilium as the Cell's Antenna: Signaling at a Sensory Organelle  

NSDL National Science Digital Library

This article discusses emerging evidence showing that primary cilia are key participants in intercellular signaling. Almost every vertebrate cell has a specialized cell surface projection called a primary cilium. Although these structures were first described more than a century ago, the full scope of their functions remains poorly understood. Here, we review emerging evidence that in addition to their well-established roles in sight, smell, and mechanosensation, primary cilia are key participants in intercellular signaling. This new appreciation of primary cilia as cellular antennae that sense a wide variety of signals could help explain why ciliary defects underlie such a wide range of human disorders, including retinal degeneration, polycystic kidney disease, Bardet-Biedl syndrome, and neural tube defects.

Veena Singla (University of California;Program in Developmental and Stem Cell Biology, and Diabetes Center); Jeremy Reiter (University of California;Program in Developmental and Stem Cell Biology, and Diabetes Center)

2006-08-04

361

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.  

PubMed

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous developmental disorder whose molecular basis is largely unknown. Here, we show that mutations in the Caenorhabditis elegans bbs-7 and bbs-8 genes cause structural and functional defects in cilia. C. elegans BBS proteins localize predominantly at the base of cilia, and like proteins involved in intraflagellar transport (IFT), a process necessary for cilia biogenesis and maintenance, move bidirectionally along the ciliary axoneme. Importantly, we demonstrate that BBS-7 and BBS-8 are required for the normal localization/motility of the IFT proteins OSM-5/Polaris and CHE-11, and to a notably lesser extent, CHE-2. We propose that BBS proteins play important, selective roles in the assembly and/or function of IFT particle components. Our findings also suggest that some of the cardinal and secondary symptoms of BBS, such as obesity, diabetes, cardiomyopathy, and learning defects may result from cilia dysfunction. PMID:15231740

Blacque, Oliver E; Reardon, Michael J; Li, Chunmei; McCarthy, Jonathan; Mahjoub, Moe R; Ansley, Stephen J; Badano, Jose L; Mah, Allan K; Beales, Philip L; Davidson, William S; Johnsen, Robert C; Audeh, Mark; Plasterk, Ronald H A; Baillie, David L; Katsanis, Nicholas; Quarmby, Lynne M; Wicks, Stephen R; Leroux, Michel R

2004-07-01

362

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

PubMed Central

Many signaling proteins including G protein-coupled receptors localize to primary cilia, regulating cellular processes including differentiation, proliferation, organogenesis, and tumorigenesis. Bardet-Biedl Syndrome (BBS) proteins are involved in maintaining ciliary function by mediating protein trafficking to the cilia. However, the mechanisms governing ciliary trafficking by BBS proteins are not well understood. Here, we show that a novel protein, Leucine-zipper transcription factor-like 1 (LZTFL1), interacts with a BBS protein complex known as the BBSome and regulates ciliary trafficking of this complex. We also show that all BBSome subunits and BBS3 (also known as ARL6) are required for BBSome ciliary entry and that reduction of LZTFL1 restores BBSome trafficking to cilia in BBS3 and BBS5 depleted cells. Finally, we found that BBS proteins and LZTFL1 regulate ciliary trafficking of hedgehog signal transducer, Smoothened. Our findings suggest that LZTFL1 is an important regulator of BBSome ciliary trafficking and hedgehog signaling.

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

2011-01-01

363

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

PubMed Central

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

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

2013-01-01

364

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

2011-05-06

365

Cronkhite-Canada syndrome associated with carcinoma of the sigmoid colon: Report of a case  

Microsoft Academic Search

Cronkhite-Canada syndrome is generally accepted as being a benign disorder. We herein present a 66-year-old-male patient with Cronkhite-Canada syndrome who had a carcinoma of the sigmoid colon along with multiple colonic polyps, which included juvenile-type polyps, adenomas, and hyperplastic polyps. In the world literature, there have been 34 cases of Cronkhite-Canada syndrome associated with colorectal carcinoma among the 280 reported

Naoki Nakatsubo; Rinichiro Wakasa; Katsumi Kiyosaki; Kazuhiro Matsui; Fumio Konishi

1997-01-01

366

[Acute syndromes of the brain stem in newborn infants with birth injuries--case report].  

PubMed

The acute syndroms of the brainstem of cerebral injuried newborns by the birth trauma (casuistry). The neurologic clinical symptomatology of the acute syndroms of the brainstem are described in brief. Three cases of damaged newborn with this syndroms are particular published. Especially performed are: the possibility of repair, the changing of the symptoms, the danger of manual transformation of abnormous cephalic positions and the need of topological diagnosis in follow-up of special care. PMID:645284

Issel, E P; Bilz, D

1978-01-01

367

Total intravenous anesthesia with propofol and remifentanil in a patient with MELAS syndrome -A case report-  

PubMed Central

A 23-year-old woman with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) underwent a laparoscopy-assisted appendectomy. MELAS syndrome is a multisystemic disease caused by mitochondrial dysfunction. General anesthesia has several potential hazards to patients with MELAS syndrome, such as malignant hyperthermia, hypothermia, and metabolic acidosis. In this case, anesthesia was performed with propofol, remifentanil TCI, and atracurium without any surgical or anesthetic complications. We discuss the anesthetic effects of MELAS syndrome.

Park, Jin Suk; Kang, Hyun; Cha, Su Man; Park, Jung Won; Jung, Yong Hun; Woo, Young-Cheol

2010-01-01

368

[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

369

An interesting case of serotonin syndrome precipitated by escitalopram  

PubMed Central

Serotonin syndrome is a known entity, which occurs with multiple drugs acting on serotonergic receptors. A 73-year-old lady presented with a history of agitation, altered sensorium, and autonomic hyperactivity after starting escitalopram on therapeutic dosage for her depressive syndrome who was on selegiline for her parkinsonism. This syndrome with therapeutic dose escitalopram warrants the careful and judicious use of the drug especially with other serotonergic drugs, so that this serious medical complication can be avoided.

Sanyal, Debasish; Chakraborty, Suddhendu; Bhattacharyya, Ranjan

2010-01-01

370

Gorlin-Goltz syndrome: a rare case report.  

PubMed

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

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

2013-06-27

371

[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

372

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

373

Susac Syndrome: Report of Four Cases and Review of the Literature  

Microsoft Academic Search

Summary: Susac syndrome is a rare disease of unknown pathogenesis. It is caused by a microangiopathy affecting the arterioles of the brain, retina, and cochlea, giving the classic clinical triad of subacute encephalopathy, visual loss secondary to retinal branch occlusions, and sensori- neural hearing loss. The features of four cases of this syndrome are presented. MR imaging, retinal fluorescein angiography,

Christiane Fisch; Francois Evoy

374

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

PubMed Central

The ophthalmic histopathology is detailed in a case of trisomy 18 (Edwards's syndrome). In addition to the ocular pathology already reported, previously unreported findings of iris stromal hypoplasia, abnormal lens shape, and decreased ganglion cells in the retina are noted. The ophthalmic histopathology associated with this syndrome and the relationship of several genetic disorders to their ocular manifestations are discussed. Images

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

1983-01-01

375

Down syndrome and coeliac disease: five new cases with a review of the literature  

Microsoft Academic Search

We report five new patients with coeliac disease and Down syndrome and review the 11 cases previously reported in the literature. In 14 of these 16 patients diarrhoea was the presenting symptom and in 2 failure to thrive in combination with anaemia. The frequency of coeliac disease in children with Down syndrome was calculated as being 43 times greater than

M. I. Hilhorst; M. Brink; E. A. K. Wauters; R. H. J. Houwen

1993-01-01

376

Cynical hostility and the metabolic syndrome: A case-control study  

Microsoft Academic Search

Cynical hostility and the metabolic syndrome: A case-control study. P. Gremigni. Background: Evidence suggests that metabolic syn- drome and hostility are independent risk factors for the de- velopment of coronary heart disease. Recently, the com- bined effect of metabolic syndrome and hostility has shown to predict the incidence of myocardial infarction. This study tested whether cynical hostility was associated with

Paola Gremigni

377

Mirizzi Syndrome: From Ultrasound Diagnosis to Surgery--A Case Report  

PubMed Central

The Mirizzi syndrome is a rare disorder that usually presents with jaundice and cholangitis; its lack of recognition in the diagnostic path could have serious consequences for the patient undergoing cholecystectomy. Here we describe the clinical case of a jaundiced patient from the ultrasound suspect of Mirizzi syndrome to the surgical treatment.

Zetti, Giorgio; Galli, Fausto; Cortese, Ferdinando

2013-01-01

378

Trichobezoar causing pancreatitis: first reported case of Rapunzel syndrome in a boy in North America.  

PubMed

Trichobezoar is a mass of hair retained in the stomach, usually associated with trichotillomania. Large trichobezoars may extend into the small bowel and cause small bowel obstruction or pancreatic dysfunction, a condition known as Rapunzel syndrome. Here we report the first North American case of Rapunzel syndrome in a male patient. PMID:22424371

Kohler, Jonathan E; Millie, Michael; Neuger, Elizabeth

2012-03-01

379

A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome  

Microsoft Academic Search

There are few reports of the typical radiographic findings in the hands and feet of patients with Muenke syndrome. We present\\u000a a case report of a young girl with Muenke syndrome, whose diagnosis was made following the observation of coalitions and coned\\u000a epiphyses on hand radiographs.

Manjiri M. Didolkar; Emily N. Vinson; Ana M. Gaca

2009-01-01

380

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

2012-08-22

381

Acute central retinal artery occlusion presenting as CREST syndrome: a case report  

Microsoft Academic Search

BACKGROUND: A 75 year old lady presented with acute central retinal artery occlusion and contralateral cotton wool spots. CASE PRESENTATION: General physical examination and investigations led to a diagnosis of CREST syndrome; however, association of central retinal artery occlusion with CREST syndrome is not well known. While diabetes, systemic hypertension, carotid atherosclerosis and cardiac pathology are common causes of CRAO

Muhammad SA Raja; Tarnya Marshall; Ben JL Burton

2009-01-01

382

Angiosarcoma associated with a Kasabach-Merritt syndrome: report of two cases treated with paclitaxel.  

PubMed

Angiosarcomas are rare, aggressive vascular malignancies of endothelial cell differentiation. Kasabach-Merritt syndrome is a rare condition defined by the association of thrombocytopenia and consumption coagulopathy with specific vascular tumors, such as tufted angioma or kaposiform hemangioendothelioma. We report here two cases of angiosarcomas complicated by a Kasabach-Merritt syndrome and their outcome after treatment with paclitaxel. PMID:23980686

Grellety, Thomas; Italiano, Antoine

2013-09-01

383

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report  

Microsoft Academic Search

BACKGROUND: Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and the defective protein it encodes leads to abnormal cartilage development and anomalous neuromuscular activity. CASE PRESENTATION: We report the clinical findings and the management of an

Nicola C Ho; Stacey Sandusky; Victor Madike; Clair A Francomano; Marinos C Dalakas

2003-01-01

384

A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab  

PubMed Central

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

Tsitsami, Elena; Papadopoulou, Charis

2013-01-01

385

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

386

A case of hyperimmunoglobulinemia d syndrome successfully treated with canakinumab.  

PubMed

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

Tsitsami, Elena; Papadopoulou, Charis; Speletas, Matthaios

2013-04-16

387

SDRIFE (Baboon Syndrome) Due to Paracetamol: Case Report.  

PubMed

The term "baboon syndrome" (BS) (recently known as symmetrical drug related intertriginous and flexural exanthema, SDRIFE) was introduced in 1984 to describe a specific skin eruption (resembling the red gluteal area of baboons) that occurred after systemic exposure to contact allergens. The crucial characteristics include a sharply defined symmetric erythema in the gluteal area and in the flexural or intertriginous folds without any systemic symptoms or signs. Because the term BS does not reflect the complete range of symptoms and is ethically problematic, it was replaced with a new term of SDRIFE. This term specifically refers to the distinctive clinical pattern of drug eruption induced by exposure to a systemically administered drug, presented as sharply demarcated symmetric erythematous areas of the gluteal/perianal area and/or V-shaped erythema of the inguinal/perigenital area (at least one other intertriginous/flexural localization) and absence of systemic symptoms and signs. We present a case of a 33-year-old man with SDRIFE due to Panadol® tablets (paracematol). On admission, there was a densely disseminated, symmetric, livid to erythematous maculopapular exanthema present in both axillae, the sides of the trunk, inguinally spreading towards the thighs, in cubital and popliteal fossae, on the back sides of the upper legs, and in the gluteal regions. Awareness of SDRIFE (BS) as an unusual drug reaction is especially important since the connection between skin eruption and drug exposure may easily be overlooked or misdiagnosed. PMID:24001419

Lugovi?-Mihi?, Liborija; Duvan?i?, Tomislav; Vu?i?, Majda; Situm, Mirna; Koli?, Maja; Mihi?, Josip

2013-08-01

388

A new syndrome mimicking Jaffe-Campanacci syndrome: a case report.  

PubMed

Jaffe-Campanacci syndrome (JCS) is a well-known condition with its clinical and radiological characteristics. Extraskeletal congenital anomalies of this syndrome include café-au-lait spots, mental retardation, cardiovascular abnormalities, ocular deformities, hypogonadism or cryptorchidism. Multiple non-ossifying fibromas are also characteristic bone lesions. In this article, we present a new syndrome mimicking JCS, which is characterized by a simple bone cyst and extraskeletal lesions. PMID:23441742

Sevencan, Adnan; ?nan, Ulukan; Köse, Nusret

2013-04-01

389

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

PubMed Central

Fanconi syndrome is a complex of renal tubular dysfunctions defined by glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis. It is often associated with hypokalemia, hypophosphatemia, and rickets or osteomalacia. Although it is usually found in the setting of other well-established non-renal diseases, Fanconi syndrome may present without identifiable etiology or association. Very infrequently a patient with idiopathic Fanconi syndrome will progress to chronic renal failure. This case report details the course of such a patient over the 20 years since his diagnosis and discusses the syndrome's genetic background, clinical features, putative pathophysiology, and therapeutic options, including transplantation.

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

1990-01-01

390

Clinical picture and treatment implication in a child with Capgras syndrome: a case report  

PubMed Central

Introduction Capgras syndrome is a delusional misidentification syndrome characterized by the patient’s belief that his or her relatives have been replaced by impostors. Case presentation Here we describe the clinical picture and the therapeutic approach to an 11-year-old Caucasian girl with Capgras syndrome. A complete psychopathological assessment was conducted during the acute phase, at one month, two months and six months since diagnosis. Conclusion Subsequent follow-up evaluations in this patient allowed us to detect improvements in the psychotic symptoms following treatment with risperidone and selective serotonin reuptake inhibitors, suggesting that this combined therapy may significantly improve the clinical outcome in patients who have Capgras syndrome.

2012-01-01

391

A case of type I variant Kounis syndrome with Samter-Beer triad  

PubMed Central

Kounis syndrome is defined as the coexistence of acute coronary syndromes with situations associated with allergy or hypersensitivity, as well as anaphylactic or anaphylactoid reactions, to a variety of medical conditions, environmental and medication exposures. We report a case of Kounis-Zavras syndrome type?I?variant in the setting of aspirin-induced asthma, or the Samter-Beer triad of asthma, nasal polyps and aspirin allergy. When there is a young individual with no predisposing factors of atherosclerosis and apparent coronary lesion, with or without electrocardiography and biochemical markers of infarction, the possibility of Kounis syndrome should be kept in mind.

Prajapati, Jayesh S; Virpariya, Kapil M; Thakkar, Ashok S; Abhyankar, Atul D

2013-01-01

392

Orofacial manifestations of Robinow's syndrome: a case report in a pediatric patient.  

PubMed

Robinow's syndrome (Online Mendelian Inheritance in Man [OMIM] 268310), or fetal facies syndrome, is a rare genetic disorder causing autosomal dominant and recessive forms. This syndrome includes a series of anomalies such as short stature, characteristic facial dysmorphism (fetal facies), genital hypoplasia, and mesomelic brachymelia. The purpose of the present case is to describe the orofacial manifestations of the syndrome in a pediatric patient: craniofacial features, triangular mouth and a long upper lip philtrum, ankyloglossia, a shortened tongue devoid of tongue tip, a geographic tongue, arched palate, gingival hyperplasia, dental abnormalities (misaligned and crowded teeth), and delayed tooth eruption. PMID:18061493

Cerqueira, Daniella Ferraz; de Souza, Ivete Pomarico Ribeiro

2007-12-03

393

Thrombosis of the subclavian vein in SAPHO syndrome. A case-report.  

PubMed

The hallmark of SAPHO Syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis) is osteitis of the anterior chest wall, which can be so pronounced as to cause thoracic outlet syndrome, thrombosis of the subclavian vein, and compression of the superior vena cava. Suggestive skin manifestations, namely palmoplantar pustulosis and severe acne, generally antedate the bone and joint lesions. We report a case of SAPHO syndrome that went unrecognized for many years and eventually caused compression and thrombosis of the right subclavian vein requiring cleidectomy. SAPHO syndrome should be considered in every patients with anterior chest wall inflammation, particularly when skin lesions are also present. PMID:10327498

Lazzarin, P; Punzi, L; Cesaro, G; Sfriso, P; De Sandre, P; Padovani, G; Todesco, S

1999-03-01

394

Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: case report and diagnostic criteria.  

PubMed

We report a new case of a fetus with holoprosencephaly-polydactyly syndrome, also known as pseudo-trisomy 13 syndrome, and no other apparent abnormalities except for septal agenesis of the left lung. The fetal karyotype was normal. Mutational analysis of five genes (SHH, SIX3, TGIF, ZIC2, and GLI3), which are major genes associated with holoprosencephaly, did not disclose any mutational findings. We therefore propose that the abnormalities of our fetus support the demarcation of this syndrome as an autonomous phenotype. Specific diagnostic criteria for holoprosencephaly-polydactyly syndrome need to be complemented by the absence of mutations in the major holoprosencephaly genes. PMID:22432933

Sergi, Consolato; Gekas, Jean; Kamnasaran, Deepak

2012-03-20

395

Management of Anesthesia in Goldenhar Syndrome: Case-Series Study  

Microsoft Academic Search

Goldenhar syndrome or oculo-auriculo-vertebral dysplasia (OAVD) is characterized by a wide range of congenital anomalies including ocular, auricular, facial, cranial, vertebral and cardiac abnormalities. It is associated with the anomalous development of the first and second branchial arches. Patients with this syndrome usually suffer from unilateral maxillary and mandibular hypoplasia and vertebral anomalies which often result in limitation of neck

Fatemeh Roodneshin; Mahvash Agah

2009-01-01

396

CASE REPORT: Stevens-Johnson Syndrome and Cholestatic Hepatitis  

Microsoft Academic Search

Stevens-Johnson Syndrome (SJS) is a rare but severe dermatological condition that typically occurs after the ingestion of medications such as nonsteroidal drugs, antibiotics, and anticonvulsants. Extracutaneous manifestations of the syndrome can occur and may involve the conjunctiva, trachea, buccal mucosa, gastrointestinal tract, and genitourinary tract. Cholestatic liver disease, which may precede the skin manifestations of SJS, has been reported to

Michael S. Morelli; Francis X. O'Brien

2001-01-01

397

Ivemark syndrome. A case with successful surgical intervention.  

PubMed

A 19-day-old boy with Ivemark syndrome (splenic agenesis associated with complex cardiac malformations and visceral abnormality) underwent palliative surgery including Glenn and hemi-Fontan procedures. Five months later the child is alive and well. We believe that early palliative surgery is worthwhile in Ivemark syndrome with a single ventricle. PMID:9264168

Tkebuchava, T; von Segesser, L K; Lachat, M; Genoni, M; Bauersfeld, U; Turina, M

1997-01-01

398

Neurocognitive recovery in SMART syndrome: A case report  

Microsoft Academic Search

Introduction: Stroke-like migraine attacks after radiation therapy, or SMART syndrome, is characterised by migraine-like headache with or without aura, transient neurological dysfunction, including seizures, and gyriform enhancement on magnetic resonance imaging (MRI) which resolves over a period of weeks. Detailed neuropsychological characterisation in SMART syndrome is lacking and there are no published data on the course and pattern of neurocognitive

Jennifer Bradshaw; Luke Chen; Michael Saling; Greg Fitt; Andrew Hughes; Ariane Dowd

2011-01-01

399

Anorexia nervosa and Wernicke-Korsakoff syndrome: a case report  

Microsoft Academic Search

INTRODUCTION: Wernicke's encephalopathy is an acute, potentially fatal, neuropsychiatric syndrome resulting from thiamine deficiency. The disorder is still greatly under-diagnosed, and failure to promptly identify and adequately treat the condition can lead to death or to the chronic form of the encephalopathy - Korsakoff's syndrome. Wernicke's encephalopathy has traditionally been associated with alcoholism but, in recent years, there has been

Laura Saad; Luiz FAL Silva; Claudio EM Banzato; Clarissa R Dantas; Celso Garcia Jr

2010-01-01

400

The treatment of Sjögren's syndrome with tibolone: a case report  

Microsoft Academic Search

We report the successful treatment with tibolone of a postmenopausal woman affected by primary Sjögren's syndrome. One year after the beginning of treatment, the woman does not need artificial tears and vaginal lubricants. This is the first report of an effective pharmacologic treatment for primary Sjögren's syndrome in humans.

Andrea Sartore; Eva Grimaldi; Secondo Guaschino

2003-01-01

401

[A case report of left ventricular apical systolic dysfunction syndrome].  

PubMed

The left ventricular apical systolic dysfunction syndrome was a rare acute cardiac syndrome. Its clinical presentation and electrocardiography were similar to acute myocardial infarction. The syndrome was characterized by transient ventricular wall-motion abnormalities involving the left ventricular apex and mid-ventricle in the absence of obstructive epicardial coronary disease. Cardiac enzyme was normal or minor elevation. At present, the cause of the syndrome is unknown. In this paper, we describe a 56-year-old female patient. She was admitted in hospital for acute appendititis and the transient left ventricular apical ballooning syndrome. She developed acute heart failure and septic shock in the hospital. The drainage of the appendiceal abscess was done and the heart failure and septic shock recovered completely in a few days. PMID:19829682

Li, Qiang; Zhu, Xi; Yao, Gai Qi; Mao, Jie Ming

2009-10-18

402

Lemierre's syndrome resulting from streptococcal induced otitis media and mastoiditis: a case report  

PubMed Central

Introduction Lemierre's syndrome is an extremely rare and almost universally fatal disease characterized as thrombophlebitis of the internal jugular venous system with subsequent metastatic infection. Fusobacterium necrophorum is the most common organism implicated in causation of Lemierre's syndrome. Group A Streptococcus has mainly been observed as a polymicrobial organism in the syndrome. We report a rare finding of a rare disease where Group A Streptococcus was the sole organism triggering Lemierre's syndrome. To our knowledge, this is only the third recorded patient with such an occurrence. Case presentation We describe a 9-year-old African American boy, who presented with otitis media and mastoiditis that culminated in Lemierre's syndrome. Isolates bore only Group A Streptococcus. The patient was appropriately treated and responded with full recovery from the syndrome. Conclusion Since Lemierre's syndrome is classically detected by clinical diagnosis, these findings should prompt clinicians to consider Group A Streptococcus as an alternative catalyst. It should be pondered that patients who present with typical Group A streptococcal infections have the possibility for developing Lemierre's syndrome. Though this complication appears to be rare, early diagnosis and prompt intervention have proven critical in survival outcome. Indeed, what would seem to be a routine case of strep throat or otitis media easily treated with antibiotics could end up being an unalterable progression to death unless Lemierre's syndrome is immediately diagnosed and treated.

2009-01-01

403

Postpneumococcal Moyamoya syndrome case report and review of the postinfective cases.  

PubMed

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

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

2013-02-06

404

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.

Nelson, Sarah

2013-01-01

405

[Polysplenia syndrome: two cases in adults revealed by biliary and pancreatic malformations].  

PubMed

Polysplenia Syndrome (PS) associates multiple spleens with other malformations usually cardiac, vascular, visceral and biliary. The diversity of these malformations and their embryological mechanisms are described in relation to two cases of PS that were diagnosed in adults. PMID:18166868

Puche, Pierre; Jacquet, Eric; Godlewski, Guilhem; Carabalona, Jean-Pierre; Domergue, Jacques; Navarro, Francis; Prudhomme, Michel

2007-10-01

406

Spontaneous bilateral compartment syndrome of the legs: A case report and review of the literature  

PubMed Central

INTRODUCTION Bilateral acute compartment syndrome of the legs is a rare presentation requiring emergent surgical intervention. PRESENTATION OF CASE We report the case of 41-year-old woman who presented with acute bilateral compartment syndrome of the legs, complicated by rhabdomyolysis and acute renal failure. DISCUSSION There are very few previously reported cases of bilateral compartment syndrome of the legs. In the present case, despite any clear causative factor, we suggest that the aetiology is related to inadvertent posture during sleep. CONCLUSION The diagnosis of acute bilateral compartment syndrome of the legs requires a high index of suspicion, particularly in the absence of obvious aetiology. A successful outcome can be achieved with early diagnosis, prompt surgical intervention and a multidisciplinary approach.

Khan, T.; Lee, G.H.; Alvand, A.; Mahaluxmivala, J.S.

2012-01-01

407

MRI in a case of Kearns-Sayre syndrome confirmed by molecular analysis  

Microsoft Academic Search

Few data are reported on imaging in the Kearns-Sayre syndrome (KSS). We present the MRI findings in a case of KSS confirmed by mitochondrial DNA molecular analysis. MRI may prove useful in detection and delineation of this disease.

G. Crisi; G. Ferrari; E. Merelli; P. Cocconcelli

1994-01-01

408

Scalene Myofascial Pain Syndrome Mimicking Cervical Disc Prolapse: A Report of Two Cases  

PubMed Central

Scalene myofascial pain syndrome is a regional pain syndrome wherein pain originates over the neck area and radiates down to the arm. This condition may present as primary or secondary to underlying cervical pathology. Although scalene myofascial pain syndrome is a well known medical entity, it is often misdiagnosed as being some other neck pain associated with radiculopathy, such as cervical disc prolapse, cervical spinal stenosis and thoracic outlet syndrome. Because scalene myofascial pain syndrome mimics cervical radiculopathy, this condition often leads to mismanagement, which can, in turn, result in persistent pain and suffering. In the worst-case scenarios, patients may be subjected to unjustifiable surgical intervention. Because the clinical findings in scalene myofascial pain syndrome are “pathognomonic”, clinicians should be aware of ways to recognize this disorder and be able to differentiate it from other conditions that present with neck pain and rediculopathy. We present two cases of unilateral scalene myofascial pain syndrome that significantly impaired the patients’ functioning and quality of life. This case report serves to create awareness about the existence of the syndrome and to highlight the potential morbidity due to clinical misdiagnosis.

Abd Jalil, Nizar; Awang, Mohammad Saufi; Omar, Mahamarowi

2010-01-01

409

[Epilepsy and Turner's syndrome: report of a case and review of the literature].  

PubMed

Fifty years ago Henry Turner identified the association of sexual infantilism, webbed neck and cubitus valgus to be a separate entity and subsequently gonadal dysgenesis was appended to the definition. Twenty years after the original report it was demonstrated that in typical patients with Turner's syndrome the chromosomal composition was 45.XO and in addition cases of mosaicism were described. Although much general information is now available about Turner's syndrome the neurological complications are largely neglected. In this paper we review the case of a patient with Turner's syndrome who at age of 16 years developed severe epilepsy. In addition, a survey of the literature concerning neurological abnormalities associated with this syndrome is presented. It seems clear that neurological symptoms in patients with Turner's syndrome deserves consideration for many reasons; may be the most significant is the evidence that patients with this syndrome have a high incidence of vascular abnormalities, which may also affect the CNS. Empirically patients with Turner's syndrome are at risk of developing cerebral vascular diseases. Also the relatively high frequency of cognitive abnormalities in these patients seems to justify the hypothesis that in a certain percentage of cases a CNS dysfunction or malformation, not necessarily of a vascular nature, may be a component of the syndrome still nor described. PMID:2124799

Trevisol-Bittencourt, P C; Sander, J W

1990-09-01

410

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

PubMed

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

2013-04-01

411

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

PubMed

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

Veena, K M; Jagadishchandra, H; Rao, Prasanna Kumar; Chatra, Laxmikanth

2011-12-19

412

Cronkhite-Canada Syndrome Associated with Serrated Adenoma and Malignant Polyp: A Case Report and a Literature Review of 13 Cronkhite-Canada Syndrome Cases in Korea  

PubMed Central

Cronkhite-Canada syndrome (CCS) is a rare nonfamilial polyposis syndrome characterized by epithelial disturbances both in the gastrointestinal tract and in the epidermis. The pathologic finding of the polyp is usually a hamartomatous polyp of the juvenile type; however, the possibility of serrated adenoma associated malignant neoplasm was reported in some Japanese cases. Up till now in South Korea, 13 CCS cases have been reported, but there was no case accompanied by the colon cancer. We report the first case of CCS associated with malignant colon polyp and serrated adenoma in Korea. A 72-year-old male patient who complained of diarrhea and weight loss was presented with both hands and feet nail dystrophy, hyperpigmentation, and alopecia. Endoscopic examination showed numerous hamartomatous polyps from the stomach to the colon. The pathologic results confirmed colon cancer and serrated adenoma. Helicobacter pylori eradication and prednisolone was used. Thus, the authors report this case along with a literature review.

Yun, So Hee; Cho, Jin Woong; Kim, Ji Woong; Kim, Joong Keun; Park, Moon Sik; Lee, Na Eun; Lee, Jae Un

2013-01-01

413

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

414

Cytogenetic abnormalities in pediatric myelodysplastic syndrome: A report of three cases  

Microsoft Academic Search

Three consecutive cases of pediatric myelodysplastic syndrome (MDS) diagnosed over a three-year period in Queen Mary Hospital, Hong Kong, were described. Depending on the classification system used, they comprised two cases of chronic myelomonocytic leukemia (CMMoL) of which one can be reclassified as juvenile chronic myeloid leukemia (JCML) and one case of refractory anemia with excess of blasts (RAEB) or

S. K. Ma; S. Y. Ha; G. C. F. Chan; L. M. Ching; Y. L. Lau; L. C. Chan

1997-01-01

415

Two necropsy cases of chronic encephalomyelitis: variants of Neuro-Beh?et's syndrome?  

PubMed Central

Two necropsy cases of chronic encephalomyelitis of unknown aetiology are presented. Skin hyperreactivity occurred in both cases although there were no mucocutaneo-ocular symptoms. There was confluent perivenous necrosis with marked glio-mesenchymal reactions and persistent inflammatory changes, predominantly in the diencephalon and brain stem. These cases are clinico-pathologically analogous to Neuro-Behcet's syndrome. Images

Iseki, E; Iwabuchi, K; Yagishita, S; Amano, N; Matsushita, M

1988-01-01

416

A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient.  

PubMed

We present the case of a boy with a clinical diagnosis of Goltz (focal dermal hypoplasia) syndrome. This is a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. It is inherited in an X-linked dominant fashion and is normally lethal in male patients. Mutations in the PORCN gene (Xp11.23), the proteins of which are key regulators in embryonic development, have been found to be responsible for the syndrome. Sequencing of the PORCN gene was negative in our patient. This case highlights some of the challenges of obtaining a molecular diagnosis in male patients with suspected Goltz syndrome in the clinical setting. PMID:21332693

Lasocki, Anita L; Stark, Zornitza; Orchard, David

2011-02-01

417

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

PubMed

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

2013-07-01

418

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.

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

2013-01-01

419

Tapia syndrome after repairing a fractured zygomatic complex: a case report and review of the literature.  

PubMed

Tapia syndrome is known as a rare complication of airway manipulation, which can occur after any type of surgery under endotracheal general anesthesia. This syndrome is characterized by neurologic deficits involving the hypoglossal (XII) and recurrent laryngeal branch of the vagal nerve (X) that result in the tongue muscle's unilateral paralysis associated with the vocal cord's unilateral palsy. This article describes the first case of Tapia syndrome, which occurred after repair of a fractured zygomatic complex. In this article, we discuss the diagnosis, possible causes, clinical manifestations, treatment methods, and preventive strategies as described in 10 case reports in the literature that have been attributed to manipulation of the airway. PMID:23850042

Varedi, Payam; Shirani, Gholamreza; Karimi, Abbas; Varedi, Peyman; Khiabani, Kazem; Bohluli, Behnam

2013-07-11

420

A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome  

PubMed Central

Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ßR 1/2). The syndrome predisposes patients to aortic aneurysm and dissections, along with craniofacial and musculoskeletal abnormalities. Here we report the case of an adolescent who underwent serial near total aortic replacement, from the aortic valve to the descending aorta. Loeys-Dietz syndrome was confirmed in this case by the detection of a mutation in the TGF-ßR 2 gene.

Suh, Yoon Jung; Kwon, Hye Won; Kwon, Bo Sang; Bae, Eun Jung; Noh, Chung Il; Choi, Jung Yun; Kim, Kyung Hwan; Kim, Yong Jin; Park, Sung Sup

2012-01-01

421

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

PubMed Central

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

2012-01-01

422

Pallister-Killian syndrome (PKS): clinical case report.  

PubMed

Pallister-Killian Syndrome is a rare dysmorphic condition characterized by specific clinical manifestations and tetrasomy 12p. This paper focuses on the general and orofacial clinical manifestations. PMID:16683676

de Oliveira, Ana Laura Andrade Dias; Ortega, Adriana de Oliveira Lira; Ciamponi, Ana Lídia

2006-01-01

423

Hypopituitarism masquerading as Prasad's syndrome: a case report.  

PubMed

Prasad's syndrome is characterized by geophagia, growth retardation, hypogonadism, and zinc deficiency. We report a 15-year-old boy whose medical history and clinical and laboratory findings were fully compatible with Prasad's syndrome. In addition to severe growth retardation and pubertal delay, iron deficiency anemia and zinc deficiency were determined. His gliadin and endomysium antibodies were negative. The thyroid hormone levels were in normal range but basal gonadotropins and testosterone levels were low for his age. Detailed endocrinological evaluation revealed growth hormone deficiency and hypogonadotropic hypogonadism. Pituitary gland magnetic resonance imaging revealed pituitary hypoplasia. In our opinion, before the diagnosis of Prasad's syndrome, endocrine evaluation should be done in these patients and hypopituitarism should be ruled out. Hypogonadotropic hypogonadism and growth hormone deficiency may be masked by Prasad's syndrome. PMID:22389997

Demirel, Fatma; Aksu, Tekin; Esen, Ihsan; Yarali, Ne?e; Karakaya, Gülhan; Tunç, Bahattin

424

Compartment syndrome as a spectrum of purple glove syndrome following intravenous phenytoin administration in a young male: A case report and review of literature.  

PubMed

Compartment syndrome is a rare complication of spectrum of purple glove syndrome, seen as a side effect of intravenous phenytoin. This involves rapid discolouration of the involved limb along with edema and sometimes blistering of the skin also. Treatment is usually conservative and rarely requires surgery. We present a case of compartment syndrome following intravenous phenytoin administration and review of literature related to the case. PMID:24005736

Chhabra, Puneet; Gupta, Nikhil; Kaushik, Atul

425

Tapia's syndrome following cervical laminoplasty -A case report-  

PubMed Central

Tapia's syndrome is the palsy of the 10th and 12th cranial nerves, resulting in ipsilateral paralysis of the vocal cord and tongue. It is a rare complication which is related to the anesthetic airway management and positioning of the patient's head during the surgery. We describe a patient with a postoperative unilateral Tapia's syndrome, after general anesthesia, with uncomplicated endotracheal intubation. The patient's symptoms improved gradually for three months.

Lim, Kyung-Jee; Kim, Man-Ho; Kang, Mae-Hwa; Lee, Hyo Min; Park, Eun Young; Kwon, Kwang-Jun; Choi, Hyun; Moon, Hyun Soo

2013-01-01

426

[Guillain-Barré syndrome with central nervous system symptoms. Report of two cases].  

PubMed

Guillain-Barré syndrome - acute inflammatory demyelinating polyradiculoneuropathy - is characterized by symmetrical flaccid paresis of limbs and areflexia or hyporeflexia which progress over a few days, up to 4 weeks. The central nervous system lesion is rarely reported in the course or treatment of the disease. In the paper two cases of patients with diagnosed Guillain-Barré syndrome with the central nervous system manifestations were discussed. A case of a 55-year-old woman was presented, who during hospitalization, on the last day of intravenous immunoglobulin therapy developed a hallucinatory syndrome. Furthermore, a case of a 18-year-old female patient with classic features of Guillain-Barré syndrome was described, because of its atypical initial presentation (headache, drowsiness and meningismus). PMID:15354236

?abuz-Roszak, Beata; Pierzcha?a, Krystyna; Kapustecki, Janusz; Biernawska, Jolanta; Ma?ka, Iwona; Kumor, Klaudiusz

427

Bilateral medial foot compartment syndrome after an aerobics class: a case report.  

PubMed

The authors present an unusual case of bilateral medial foot compartment syndrome in a healthy woman after a low-intensity aerobics exercise class. The majority of compartment syndrome cases have occurred after trauma, such as combat crush injuries and motor vehicle accidents. We wish to call attention to a rare situation in which compartment syndrome occurs in a healthy young adult after low-intensity exercise and highlight the necessity of a high clinical suspicion and a low threshold for fasciotomies to prevent irreversible muscle damage as a result of extremely high pressures. There is a paucity of cases on the clinical management and follow-up of this rare occurrence of compartment syndrome. PMID:22621857

Lam, Suet Kam; McAlister, Jeffrey; Oliver, Noah; Pontell, David

2012-05-22

428

Cauda equina syndrome resulting from lumbar arachnoiditis after intracranial subarachnoid hemorrhage: a case report.  

PubMed

Spinal arachnoiditis is a known but very rare late complication of subarachnoid hemorrhage (SAH). Since 1943, 17 cases of spinal arachnoiditis after intracranial hemorrhage have been reported internationally. The vast majority of these cases were related to aneurysmal SAH. All previously published cases have involved spinal arachnoiditis at the cervical and thoracic levels. In this report, we present an adult woman with lumbar spinal arachnoiditis causing cauda equina syndrome as a result of posterior circulation aneurysmal SAH. We believe this is the first reported case of this specific condition causing cauda equina syndrome. PMID:23790823

Whetstone, Kirk E; Crane, Deborah A

2013-06-01

429

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.

2011-01-01

430

Transient myeloproliferative disorder in a newborn with down syndrome treated with rasburicase for the risk of development of tumor lysis syndrome: A case report  

PubMed Central

Introduction Transient myeloproliferative disorder is a hematologic abnormality characterized by an uncontrolled proliferation of myeloblasts in peripheral blood and bone marrow that primarily affects newborns and babies with Down syndrome. Tumor lysis syndrome is rarely associated with transient myeloproliferative disorder. Case presentation Transient myeloproliferative disorder was diagnosed in a seven-day-old baby girl with Down syndrome, who was referred to our department due to hyperleukocytosis. Our patient developed tumor lysis syndrome, successfully treated with rasburicase, as a complication of transient myeloproliferative disorder resulting from rapid degradation of myeloid blasts after initiation of effective chemotherapy. Conclusions Tumor lysis syndrome is rarely reported as a complication of transient myeloproliferative disorder. To the best of our knowledge, this is the first case of a newborn with Down syndrome and transient myeloproliferative disorder treated with rasburicase for developing tumor lysis syndrome.

2011-01-01

431

Metastatic gastric cancer presenting with shoulder-hand syndrome: a case report  

PubMed Central

Introduction Shoulder-hand syndrome is a relatively rare clinical entity classified as a complex regional pain syndrome type 1 and consisting essentially of a painful 'frozen shoulder' with disability, swelling, vasomotor or dystrophic changes in the homolateral hand. The pathophysiology is not completely clear but a predominant 'sympathetic' factor affecting the neural and vascular supply to the affected parts seems to be involved. Shoulder-hand syndrome has been related to many surgical, orthopedic, neurological and medical conditions; it is more often seen after myocardial infarction, hemiplegia and painful conditions of neck and shoulder, such as trauma, tumors, cervical discogenic or intraforaminal diseases and shoulder calcific tendinopathy, but has also been associated with herpetic infections, brain and lung tumors, thoracoplasty and drugs including phenobarbitone and isoniazid. The diagnosis of shoulder-hand syndrome is primarily clinical, but imaging studies, particularly bone scintigraphy, may be useful to exclude other disorders. Case presentation We report the case of a 67-year-old woman who presented with shoulder-hand syndrome as the initial manifestation of gastric cancer which had metastasized to bone. Conclusion Wider investigations are advisable in patients with atypical shoulder-hand syndrome. To the best of the authors' knowledge this is the first case of shoulder-hand syndrome associated with metastatic gastric cancer.

Massarotti, Marco; Ciocia, Gianluigi; Ceriani, Roberto; Chiti, Arturo; Marasini, Bianca

2008-01-01

432

Scleroderma and CREST syndrome: a case report in dentistry.  

PubMed

CREST syndrome is part of the heterogeneous scleroderma group of autoimmune diseases that cause thickening, hardening and tightening of the connective tissue in different parts of the body, and it may lead to complex disorders. CREST syndrome is characterized by the coexistence of calcinosis, Raynaud's phenomenon, esophageal hypomotility, sclerodactily and telangectasia. A 72-year-old caucasian woman is referred to the S. Gerardo Hospital of Monza, with a chief complaint of oral pain and difficulties in deglutition and eating, associated with denture instability and difficulties to fit it. She had been previously diagnosed with Raynaud's phenomenon, and afterwards with CREST syndrome. Extra-oral examination underlined taut, thickened and rigid skin, pallid-red irregular maculae all over the face, telangiectasias and acrocyanosis. Intra-oral examination showed no alteration of the mucosa, but we can observe tongue rigidity and some speckled red alternating with white spots on the hard palate and in the vestibule. We undermitted the patient the dental treatment of Sjogren's syndrome. The management of the Sjogren's syndrome is symptomatic and empirical, and involves the use of saliva secretion stimulators, salivary substitutes and coadjuvants. Dental treatment and prophylaxis are important to prevent the consequences of xerostomia, such as rampant caries, based on the administration of topical fluoride in toothpastes and rinses, and supplemented by fluoride gels and varnishes. Instruction and reinforcement of oral hygiene, along with frequent dental assessment and management by the dentist are essential measures to preserve the oral health of those affected with CREST syndrome in progression to SS, complicated with Sjogren's syndrome. PMID:21956352

Lauritano, D; Bussolati, A; Baldoni, M; Leonida, A

2011-09-01

433

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.  

PubMed

Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms. 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes. Here we report another patient with 5p13 duplication syndrome including NIPBL gene only. Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications. Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype. PMID:23085304

Novara, Francesca; Alfei, Enrico; D'Arrigo, Stefano; Pantaleoni, Chiara; Beri, Silvana; Achille, Valentina; Sciacca, Francesca L; Giorda, Roberto; Zuffardi, Orsetta; Ciccone, Roberto

2012-10-18

434

The case for including Attenuated Psychotic Symptoms Syndrome in DSM5 as a psychosis risk syndrome  

Microsoft Academic Search

The American Psychiatric Association Task Force on DSM-5 has recently proposed consideration of Attenuated Psychotic Symptoms Syndrome as a new diagnosis, based on nearly 15years of prospective research in centers across the globe. The condition is also known as “psychosis risk syndrome,” “at-risk mental state,” “ultra-high risk,” and “putative prodrome.” We review evidence favoring its inclusion as a new diagnosis

Scott W. Woods; Barbara C. Walsh; John R. Saksa; Thomas H. McGlashan

2010-01-01

435

[Equine Cushing syndrome (ECS). Case report, review of its diagnosis and therapy and substantial differences from Cushing syndrome in dogs].  

PubMed

Equine and canine Cushing's syndrome, both of which are the result of elevated cortisol levels, show some different pathogenetical and clinical features and require different therapeutical approaches. In older horses the equine Cushing's syndrome (ECS) is not uncommon. Nearly all cases result from excessive hormone production in cells of the pars intermedia of the pituitary. Besides elevated levels of adrenocorticotrope hormone (ACTH), high peripheral levels of pro-opiomelanocortin, beta-endorphines and alpha-melanocyte-stimulating hormone can be measured. In middle-aged and geriatric dogs, Cushing's syndrome is the most frequently diagnosed endocrinologic abnormality. 80-85% of cases are pituitary-dependent and 15-20% are caused by cortisol producing tumors of the adrenals. 90% of pituitary lesions can be identified as adenomas, which are localised in most cases in the pars distalis of the gland, but may occur rarely in the pars intermedia, too. Clinical symptoms in both species are characterised by wasting despite good appetite or polyphagia, reduction of muscle mass with altered fat deposition and lethargy. Whereas polydipsia/polyuria is a very common feature in dogs with Cushing's syndrome, in horses it is almost invariably a sign of concurrent secondary diabetes mellitus. A typical symptom in ECS is a continuously growing haircoat (hirsutism), whereas in canine Cushing's syndrome generalised alopecia may bring the owner to consult a veterinarian. The symptoms and diagnostic procedures in a 33-year-old mare are described. Useful diagnostic tests are reviewed with special attention to species differences in reacting to them. The therapeutic approach with dopamine-agonists such as bromocriptine and pergolide as well as cyproheptadine to ECS is reviewed. PMID:9626747

Fey, K; Jonigkeit, E; Moritz, A

1998-02-01

436

Fetal hydantoin syndrome and its anaesthetic implications: a case report.  

PubMed

Fetal hydantoin syndrome is a rare disorder that is believed to be caused by exposure of a fetus to the anticonvulsant drug phenytoin. The classic features of fetal hydantoin syndrome include craniofacial anomalies, prenatal and postnatal growth deficiencies, underdeveloped nails of the fingers and toes, and mental retardation. Less frequently observed anomalies include cleft lip and palate, microcephaly, ocular defects, cardiovascular anomalies, hypospadias, umbilical and inguinal hernias, and significant developmental delays. Anaesthesia for incidental surgery in such a patient poses unique challenges for the anesthesiologist. We report the successful management of a 4-year-old male child with fetal hydantoin syndrome, cleft palate, spina bifida, atrial septal defect, and dextrocardia for tibialis anterior lengthening under subarachnoid block. PMID:23082254

Singh, Ranju; Kumar, Nishant; Arora, Sakshi; Bhandari, Ritu; Jain, Aruna

2012-10-02

437

[Percutaneous treatment of Lutembacher syndrome: a case report].  

PubMed

Lutembacher syndrome is a rare combination of congenital atrial septal defect (ASD) and acquired mitral stenosis (MS). Although it is traditionally corrected by surgical treatment, both conditions are amenable to transcatheter treatment without the need for surgery. We present a 49-year-old woman with Lutembacher syndrome. On pretreatment transthoracic echocardiography, planimetric mitral valve area was 1.5 cm(2), maximum diastolic gradient was 17 mmHg, and mean diastolic gradient was 9 mmHg. Combined percutaneous treatment was performed including balloon valvuloplasty for MS and closure of the ASD with the Amplatzer septal occluder. The patient was discharged uneventfully. Transthoracic echocardiography performed a week later showed planimetric mitral valve area as 2.1 cm(2), maximum diastolic gradient as 9 mmHg, and mean diastolic gradient as 4 mmHg. Complete closure of the ASD was achieved. Transcatheter treatment may be an effective alternative to surgery in selected patients with Lutembacher syndrome. PMID:20215845

Ozdemir, Aydan Ongun; Kumbasar, Deniz; Dinçer, Irem; Atmaca, Yusuf

2010-01-01

438

Fitz-Hugh-Curtis syndrome: CT findings of three cases.  

PubMed

Clinical manifestations and computed tomography (CT) findings of Fitz-Hugh-Curtis syndrome (FHCS) are relatively well stabilized as right upper quadrant abdominal pain and hepatic capsular enhancement because of perihepatitis associated with pelvic inflammatory disease caused by N. gonorrhoeae and C. trachomatis. We encountered three patients with serial FHCS associated with pelvic inflammatory disease, who visited the emergency room with right upper quadrant abdominal pain. Abdominal CT revealed hepatic capsular or pericapsular enhancement along the anterior surface of the liver on the arterial phase. Recently, multi-detector CT has evolved as the first-line imaging modality of acute abdomen at the emergency room; we reemphasized the importance of the CT findings of this syndrome for differential diagnosis of right upper quadrant abdominal pain in sexually active young women. Physicians at the emergency room acknowledge the syndrome and should perform dynamic abdominopelvic CT including the arterial phase. PMID:17582537

Cho, Hyeon Je; Kim, Ho Kyun; Suh, Jung Ho; Lee, Ghi Jai; Shim, Jae-Chan; Kim, Young Hwa

2007-06-21

439

Fetal Hydantoin Syndrome and Its Anaesthetic Implications: A Case Report  

PubMed Central

Fetal hydantoin syndrome is a rare disorder that is believed to be caused by exposure of a fetus to the anticonvulsant drug phenytoin. The classic features of fetal hydantoin syndrome include craniofacial anomalies, prenatal and postnatal growth deficiencies, underdeveloped nails of the fingers and toes, and mental retardation. Less frequently observed anomalies include cleft lip and palate, microcephaly, ocular defects, cardiovascular anomalies, hypospadias, umbilical and inguinal hernias, and significant developmental delays. Anaesthesia for incidental surgery in such a patient poses unique challenges for the anesthesiologist. We report the successful management of a 4-year-old male child with fetal hydantoin syndrome, cleft palate, spina bifida, atrial septal defect, and dextrocardia for tibialis anterior lengthening under subarachnoid block.

Singh, Ranju; Kumar, Nishant; Arora, Sakshi; Bhandari, Ritu; Jain, Aruna

2012-01-01

440

A case of nail-patella syndrome associated with thyrotoxicosis  

PubMed Central

Nail-patella syndrome, also known as hereditary onycho-osteodystrophy, is a rare autosomal dominant disorder with pleiotropic phenotypic expression. The present report is of a nail-patella syndrome patient, a 26-year-old female, admitted to our NeuroMuscular Rehabilitation Clinic Division for neurological symptoms, secondary to a severe spondylolysthesis with bilateral L5 pedicle fracture. During hospitalization, she was also diagnosed with mild thyrotoxicosis, but interestingly enough, the bone mineral density, assessed at multiple sites, was quasi-normal. Abbreviations BMD – bone mineral density, BMI – body mass index, DXA – dual-energy X-ray absorptiometry, FT4 – serum free thyroxin, HOOD – Hereditary onycho-osteodystrophy, NPS – Nail-patella syndrome, TSH – thyroid-stimulating hormone

Haras, B; Vulpoi, F; Onose, Gh

2012-01-01

441

[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

442

Dapsone syndrome--first Malaysian paediatric case report.  

PubMed

Dapsone syndrome is a potentially fatal hypersensitivity reaction to sulphone. We report a 12-year-old girl who developed high grade fever associated with intense jaundice, exfoliative skin rash and hepatomegaly after five weeks of starting the multidrug regimen for the treatment of Hansen's disease. Laboratory investigations revealed presence of leucocytosis with eosinophilia, deranged liver enzymes and an abnormal coagulation profile. Immediate cessation of the offending drug and administration of steroid proved successful. A high level of clinical awareness is fundamental for early diagnosis of dapsone syndrome as initiation of a prompt treatment may lead to rapid recovery. PMID:22582558

Zurina, Z; Elizawaty, O; Thevarajah, S; Norlijah, O

2012-02-01

443

[Incomplete Reiter syndrome caused by BCG instillation : a case report].  

PubMed

A 91-year-old man was treated for upper urinary carcinoma in situ via intravesical bacillus Calmette Guérin (BCG) therapy using a double-J catheter. After the fourth infusion, he experienced fever of >38°C, multiple arthralgia, and back pain. One week after cessation of intravesical BCG immunotherapy and initiation of antibiotic treatment, he continued to complain of symptoms. Reiter's syndrome was diagnosed, and subsequently, an antitubercular agent, a nonsteroidal antiinflammatory drug and a corticosteroid were administered. His symptoms improved 17 days after onset. Reiter syndrome is an uncommon complication after intravesical BCG immunotherapy. Nevertheless, side effects may be severe and must be closely monitored. PMID:23635459

Nonomura, Daichi; Katayama, Kinzo; Madono, Keigo; Kamoto, Akihito; Mori, Naoki; Sekii, Kenichiro; Yoshioka, Toshiaki

2013-04-01

444

MSX1 mutation in witkop syndrome; a case report.  

PubMed

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

2013-06-01

445

[First death case of serotonin syndrome in Japan induced by fluvoxamine and tandospirone].  

PubMed

We experienced the first death case of the serotonin syndrome in Japan caused by fluvoxamine and tandospirone. A 15-year-old man was transported to our hospital for shock, muscle hypertonia and hyperthermia after cardiopulmonary arrest. His serum concentrations of fluvoxamine and tandospirone were 3,554 ng/mL and 698 ng/mL respectively after 24 hours from oral intake. He was dead in spite of intensive treatments. The progress of the serotonin syndrome is usually rapid. So, it should be monitored appropriately a patient with serotonin syndrome. If he has hyperthermia, immediate paralysis should be induced. We should aware of the serotonin syndrome a case of overdose on a serotonergic agent. PMID:22338341

Kawano, Takahisa; Kosuge, Takayuki; Takagi, Shunsuke; Shimoyama, Akira; Harunari, Nobuyuki; Tahara, Yoshio; Suzuki, Noriyuki

2011-12-01

446

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

2012-08-22

447

Acute lower limb compartment syndrome after Cesarean section: a case report  

PubMed Central

Introduction Acute compartment syndrome of the lower limb is a rare but severe intra- and post-partum complication. Prompt diagnosis is essential to avoid permanent functional restriction or even the loss of the affected limb. Clinical signs and symptoms might be nonspecific, especially in the early stages; therefore, knowledge of predisposing risk factors can be helpful. Case presentation We present the case of a 32-year-old Caucasian woman with acute post-partum compartment syndrome. Conclusion Acute compartment syndrome is an important differential diagnosis for the sudden onset of intra- or post-partum lower-limb pain. Predisposing factors for the manifestation of acute compartment syndrome in an obstetric environment are augmented intra-partum blood loss, prolonged hypotensive episodes and the use of oxytocin to support or induce labor because of its vasoconstrictive properties. Treatment is prompt surgical decompression by performing fasciotomy in any affected muscular compartments.

2011-01-01

448

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

2013-02-04

449

Syndrome of multiple mucosal neurofibromas, pheochromocytoma and medullary thryoid carcinoma. Report of a case.  

PubMed

The present article reports a case of multiple endocrine neoplasia (MEN) syndrome, type IIb, including the following components: pheochromocytoma, medullary thyroid carcinoma, hyperplastic corneal nerves and multiple mucosal oral and ocular neurofibromas. The patients, a 35-year-old male also exhibited a series of other pertinent findings, i.e. thickened eyelids, marfanoid habitus and widened mandibular canal and mental foramina. In the discussion the clinical and histopathologic characteristics of the present case are compared with similar findings in other previously published cases. The multiple oral mucosal neurofibromas are described clinically and histopathologically and are stated as a pathognomonic early sign of the syndrome. PMID:98459

Anneroth, G; Heimdahl, A

1978-04-01

450

Acral peeling skin syndrome in two East-African siblings: case report  

PubMed Central

Background Acral peeling skin syndrome is a rare autosomal recessive genodermatosis due to a missense mutation in transglutaminase 5. The skin peeling occurs at the separation of the stratum corneum from the stratum granulosum. Case presentation We present a case of two siblings who developed continuous peeling of the palms and soles from the first year of life. This peeling was more severe on the soles than palms and on younger sibling than elder sibling. Peeling is worsened by occlusion and sweating. Conclusions Sporadic cases of Acral Peeling Skin Syndrome occur in African population. There is variability in time of presentation and clinical severity even within families.

2012-01-01

451

Infection-associated hemophagocytic syndrome among patients with dengue shock syndrome and invasive aspergillosis: a case series and review of the literature.  

PubMed

The authors report four autopsy cases of previously healthy children with dengue shock syndrome complicated with infection-associated hemophagocytosis and invasive aspergillosis. Hemophagocytosis is confirmed by histopathology of autopsied reticuloendothelial organs. All four children were identified to have invasive aspergillosis by histopathology and three cases were positive on fungal culture for Aspergillus spp. Regarding the cause of death among the four children without pre-existing underlying disease, three cases were directly ascribable to invasive aspergillosis and the remaining case was ascribed to dengue shock syndrome. The transmigration of preexisting fungi from the respiratory mucosa damaged by the dengue shock process is postulated as the pathogenesis of invasive aspergillosis. The main predisposing factor was found to be prolonged dengue shock syndrome. We reviewed the clinicopathologic features and therapeutic management of infection-associated hemophagocytic syndrome in patients with dengue shock syndrome and invasive aspergillosis. PMID:22299436

Larbcharoensub, Noppadol; Aroonroch, Rangsima; Kanoksil, Wasana; Leopairut, Juvady; Nitiyanant, Prawat; Khositseth, Anant; Tangnararatchakit, Kanchana; Chuansumrit, Ampaiwan; Yoksan, Sutee

2011-09-01

452