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1

A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.  

PubMed

Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS phenotype. Although recent pathophysiological studies using animal models have shown that ciliary dysfunction may induce hydrocephalus, there have been no reports of BBS with intracranial hypertension. We here describe a 9-year-old Japanese girl who was diagnosed as having BBS and later received renal transplantation due to chronic renal failure. She also exhibited intracranial hypertension, including papilledema and increased intrathecal pressure (260-300 mmH2O), but her brain magnetic resonance imaging was normal. No genetic abnormalities were detected by DNA chip analysis or exome sequencing. Her papilledema improved following administration of acetazolamide. This is the first report of a case of BBS complicated with intracranial hypertension and its treatment. PMID:24290075

Saida, Ken; Inaba, Yuji; Hirano, Makito; Satake, Wataru; Toda, Tatsushi; Suzuki, Yutaka; Sudo, Asuka; Noda, Shunsuke; Hidaka, Yoshihiko; Hirabayashi, Kazutaka; Imai, Hiroki; Kurokawa, Toru; Koike, Kenichi

2014-09-01

2

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

3

Bardet–Biedl syndrome: A rare cause of end stage renal disease  

PubMed Central

Bardet–Biedl syndrome is a rare autosomal recessive disorder, recently categorized as ciliopathy characterized by dysfunction of primary cilia which results in myriad manifestations in various organ systems. Though renal abnormalities can occur in this syndrome, renal failure is a rare presentation. The author reports a case of 18-year-old female who presented with polydactyly, obesity, retinitis pigmentosa, learning disability and renal failure. PMID:25664275

Hemachandar, R

2015-01-01

4

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. PMID:22358239

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

2012-01-01

5

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

PubMed

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

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

2002-05-01

6

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

7

ORAL PRESENTATION Open Access Kidney involvement in Bardet-Biedl syndrome  

E-print Network

with chronic kidney disease as one of cardinal clinical features. We studied the renal phenotype in 33 patientsORAL PRESENTATION Open Access Kidney involvement in Bardet-Biedl syndrome: urinary concentrating, V Marion, H Dollfus From First International Cilia in Development and Disease Scientific Conference

Paris-Sud XI, Université de

8

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney  

Microsoft Academic Search

Bardet-Biedl syndrome (BBS) is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal\\u000a defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. The syndrome is genetically heterogeneous\\u000a with 14 BBS genes identified to date. Since the cloning of the first gene in 2000, a combination of genetic, in vitro, and\\u000a in vivo studies have highlighted ciliary

Audrey Putoux; Tania Attie-Bitach; Jéléna Martinovic; Marie-Claire Gubler

9

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

Microsoft Academic Search

The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia, and short stature. It is heterogeneous with at least four gene loci (BBS1-4) having been mapped to date. We have studied 18 multiply affected families noting the presence of both major and minor manifestations. Using a fluorescently based PCR technique, we genotyped

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

1997-01-01

10

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder  

Microsoft Academic Search

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by multiple clinical features that include pigmentary retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. BBS is considered an autosomal recessive disorder, and recent positional cloning efforts have identified two BBS genes (BBS2 and BBS6). We screened our cohort of 163 BBS families for mutations in both BBS2 and BBS6

Nicholas Katsanis; Stephen J. Ansley; Jose L. Badano; Erica R. Eichers; Richard Alan Lewis; Bethan E. Hoskins; Peter J. Scambler; William S. Davidson; Philip L. Beales; James R. Lupski

2001-01-01

11

Genetic linkage analysis in 26 families with Bardet-Biedl syndrome  

SciTech Connect

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

Wright, A.F.; Bruford, E.A.; Mansfield, D.C. [Western General Hospital, Edinburgh (United Kingdom)] [and others

1994-09-01

12

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

2013-04-25

13

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

PubMed

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

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

2014-11-01

14

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome  

PubMed Central

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

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

2005-01-01

15

Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome  

PubMed Central

Bardet–Biedl syndrome (BBS; OMIM no. 209?900) and Alström syndrome (ALMS; OMIM no. 203?800) are rare, multisystem genetic disorders showing both a highly variable phenotype and considerable phenotypic overlap; they are included in the emerging group of diseases called ciliopathies. The genetic heterogeneity of BBS with 14 causal genes described to date, serves to further complicate mutational analysis. The development of the BBS–ALMS array which detects known mutations in these genes has allowed us to detect at least one mutation in 40.5% of BBS families and in 26.7% of ALMS families validating this as an efficient and cost-effective first pass screening modality. Furthermore, using this method, we found two BBS families segregating three BBS alleles further supporting oligogenicity or modifier roles for additional mutations. We did not observe more than two mutations in any ALMS family. PMID:21157496

Pereiro, Ines; Hoskins, Bethan E; Marshall, Jan D; Collin, Gayle B; Naggert, Jürgen K; Pińeiro-Gallego, Teresa; Oitmaa, Eneli; Katsanis, Nicholas; Valverde, Diana; Beales, Philip L

2011-01-01

16

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.  

PubMed

Bardet-Biedl syndrome (BBS; OMIM no. 209?900) and Alström syndrome (ALMS; OMIM no. 203?800) are rare, multisystem genetic disorders showing both a highly variable phenotype and considerable phenotypic overlap; they are included in the emerging group of diseases called ciliopathies. The genetic heterogeneity of BBS with 14 causal genes described to date, serves to further complicate mutational analysis. The development of the BBS-ALMS array which detects known mutations in these genes has allowed us to detect at least one mutation in 40.5% of BBS families and in 26.7% of ALMS families validating this as an efficient and cost-effective first pass screening modality. Furthermore, using this method, we found two BBS families segregating three BBS alleles further supporting oligogenicity or modifier roles for additional mutations. We did not observe more than two mutations in any ALMS family. PMID:21157496

Pereiro, Ines; Hoskins, Bethan E; Marshall, Jan D; Collin, Gayle B; Naggert, Jürgen K; Pińeiro-Gallego, Teresa; Oitmaa, Eneli; Katsanis, Nicholas; Valverde, Diana; Beales, Philip L

2011-04-01

17

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

PubMed

Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional protein trafficking along the cilium. Mutations in genes coding for IFT components have been associated with a group of diseases called ciliopathies. These genetic disorders can affect a variety of organs including the retina. Using whole exome sequencing in three families, we identified mutations in Intraflagellar Transport 172 Homolog [IFT172 (Chlamydomonas)] that underlie an isolated retinal degeneration and Bardet-Biedl syndrome. Extensive functional analyses of the identified mutations in cell culture, rat retina and in zebrafish demonstrated their hypomorphic or null nature. It has recently been reported that mutations in IFT172 cause a severe ciliopathy syndrome involving skeletal, renal, hepatic and retinal abnormalities (Jeune and Mainzer-Saldino syndromes). Here, we report for the first time that mutations in this gene can also lead to an isolated form of retinal degeneration. The functional data for the mutations can partially explain milder phenotypes; however, the involvement of modifying alleles in the IFT172-associated phenotypes cannot be excluded. These findings expand the spectrum of disease associated with mutations in IFT172 and suggest that mutations in genes originally reported to be associated with syndromic ciliopathies should also be considered in subjects with non-syndromic retinal dystrophy. PMID:25168386

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

2015-01-01

18

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

SciTech Connect

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

Carmi, R.; Elbedour, K. [Ben-Gurion Univ., Beer-Sheva (Israel); Stone, E.M.; Sheffield, V.C. [Univ. of Iowa, IA (United States)

1995-11-06

19

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

PubMed

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

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

2014-12-01

20

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

2006-03-01

21

Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions.  

PubMed

Bardet-Biedl syndrome is a heterogeneous disorder causing a spectrum of symptoms, including visual impairment, kidney disease, and hearing impairment. Evidence suggests that BBS gene mutations cause defective ciliogenesis and/or cilium dysfunction. Cochlear development is affected by BBS gene deletion, and adult Bbs6(-/-) and Bbs4(-/-) mice are hearing impaired. This study addresses BBS protein expression in the rodent cochlea, to gain a better understanding of its function in vivo. As predicted by in vitro studies, Bbs6 immunofluorescence was localized to the basal bodies of supporting cells and sensory hair cells prior to the onset of hearing. In adult tissue, Bbs6 expression persisted in afferent neurons, including within the dendrites that innervate hair cells, implicating Bbs6 in a sensory neuronal function. Bbs2, which interacts with Bbs6, was also localized to hair cell basal bodies and stereociliary bundles. Additionally, Bbs2 was expressed in supporting cells at their intercellular boundaries, in a spatiotemporal pattern mirroring the development of the microtubule network. Bbs4 localized to cilia and developing cytoplasmic microtubule arrays. Pcm-1, a microtubular protein that interacts with Bbs4 in vitro, showed a comparable expression. Depolymerization of microtubules in slice preparations of the living cochlea resulted in Bbs4 and Pcm-1 mislocalization. Pcm-1 was also mislocalized in Bbs4(-/-) mice. This suggests that Bbs4/Pcm-1 interactions may be important in microtubule-dependent cytoplasmic trafficking in vivo. In summary, our findings indicate that BBS proteins adopt a range of cellular distributions in vivo, not restricted to the centrosome or cilium, and so broaden the possible underlying pathomechanisms of the disease. PMID:19396898

May-Simera, Helen L; Ross, Alison; Rix, Suzanne; Forge, Andrew; Beales, Philip L; Jagger, Daniel J

2009-05-10

22

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

PubMed Central

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

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

2014-01-01

23

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

PubMed Central

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

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

2008-01-01

24

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

PubMed

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

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

2008-07-01

25

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

PubMed Central

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

2011-01-01

26

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

PubMed

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

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

2014-10-15

27

Bardet-Biedl Syndrome  

MedlinePLUS

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28

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

PubMed Central

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

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

2013-01-01

29

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

SciTech Connect

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

Kwitek-Black, A.E.; Rokhlina, T.; Nishimura, D.Y. [Univ. of Iowa, Iowa City, IA (United States)] [and others

1994-09-01

30

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11)  

PubMed Central

The identification of mutations in genes that cause human diseases has largely been accomplished through the use of positional cloning, which relies on linkage mapping. In studies of rare diseases, the resolution of linkage mapping is limited by the number of available meioses and informative marker density. One recent advance is the development of high-density SNP microarrays for genotyping. The SNP arrays overcome low marker informativity by using a large number of markers to achieve greater coverage at finer resolution. We used SNP microarray genotyping for homozygosity mapping in a small consanguineous Israeli Bedouin family with autosomal recessive Bardet–Biedl syndrome (BBS; obesity, pigmentary retinopathy, polydactyly, hypogonadism, renal and cardiac abnormalities, and cognitive impairment) in which previous linkage studies using short tandem repeat polymorphisms failed to identify a disease locus. SNP genotyping revealed a homozygous candidate region. Mutation analysis in the region of homozygosity identified a conserved homozygous missense mutation in the TRIM32 gene, a gene coding for an E3 ubiquitin ligase. Functional analysis of this gene in zebrafish and expression correlation analyses among other BBS genes in an expression quantitative trait loci data set demonstrate that TRIM32 is a BBS gene. This study shows the value of high-density SNP genotyping for homozygosity mapping and the use of expression correlation data for evaluation of candidate genes and identifies the proteasome degradation pathway as a pathway involved in BBS. PMID:16606853

Chiang, Annie P.; Beck, John S.; Yen, Hsan-Jan; Tayeh, Marwan K.; Scheetz, Todd E.; Swiderski, Ruth E.; Nishimura, Darryl Y.; Braun, Terry A.; Kim, Kwang-Youn A.; Huang, Jian; Elbedour, Khalil; Carmi, Rivka; Slusarski, Diane C.; Casavant, Thomas L.; Stone, Edwin M.; Sheffield, Val C.

2006-01-01

31

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).  

PubMed

The identification of mutations in genes that cause human diseases has largely been accomplished through the use of positional cloning, which relies on linkage mapping. In studies of rare diseases, the resolution of linkage mapping is limited by the number of available meioses and informative marker density. One recent advance is the development of high-density SNP microarrays for genotyping. The SNP arrays overcome low marker informativity by using a large number of markers to achieve greater coverage at finer resolution. We used SNP microarray genotyping for homozygosity mapping in a small consanguineous Israeli Bedouin family with autosomal recessive Bardet-Biedl syndrome (BBS; obesity, pigmentary retinopathy, polydactyly, hypogonadism, renal and cardiac abnormalities, and cognitive impairment) in which previous linkage studies using short tandem repeat polymorphisms failed to identify a disease locus. SNP genotyping revealed a homozygous candidate region. Mutation analysis in the region of homozygosity identified a conserved homozygous missense mutation in the TRIM32 gene, a gene coding for an E3 ubiquitin ligase. Functional analysis of this gene in zebrafish and expression correlation analyses among other BBS genes in an expression quantitative trait loci data set demonstrate that TRIM32 is a BBS gene. This study shows the value of high-density SNP genotyping for homozygosity mapping and the use of expression correlation data for evaluation of candidate genes and identifies the proteasome degradation pathway as a pathway involved in BBS. PMID:16606853

Chiang, Annie P; Beck, John S; Yen, Hsan-Jan; Tayeh, Marwan K; Scheetz, Todd E; Swiderski, Ruth E; Nishimura, Darryl Y; Braun, Terry A; Kim, Kwang-Youn A; Huang, Jian; Elbedour, Khalil; Carmi, Rivka; Slusarski, Diane C; Casavant, Thomas L; Stone, Edwin M; Sheffield, Val C

2006-04-18

32

TUDCA Slows Retinal Degeneration in Two Different Mouse Models of Retinitis Pigmentosa and Prevents Obesity in Bardet-Biedl Syndrome Type 1 Mice  

PubMed Central

Purpose. To evaluate and compare the protective effect of tauroursodeoxycholic acid (TUDCA) on photoreceptor degeneration in different models of retinal degeneration (RD) in mice. Methods. BbsM390R/M390R mice were injected subcutaneously twice a week, from P40 to P120, and rd10 mice were injected every 3 days from P6 to P38 with TUDCA or vehicle (0.15 M NaHCO3). Rd1 and rd16 mice were injected daily from P6 to P30 with TUDCA or vehicle. Retinal structure and function were determined at multiple time points by electroretinography (ERG), optical coherence tomography (OCT), and histology. Results. The amplitude of ERG b-waves was significantly higher in TUDCA-treated Bbs1 and rd10 animals than in controls. Retinal thickness on OCT was slightly greater in treated Bbs1 animals than in the controls. Histologically, outer segments were preserved, and the outer nuclear layer was significantly thicker in the treated Bbs1 and rd10 mice than in the controls. Bbs1M390R/M390R mice developed less obesity than the control Bbs1M390R/M390R while receiving TUDCA. The Rd1 and rd16 mice showed no improvement with TUDCA treatment, and the rd1 mice did not have normal weight gain during treatment. Conclusions. TUDCA treatment preserved ERG b-waves and the outer nuclear layer in Bbs1M390R/M390R mice, and prevented obesity assessed at P120. TUDCA treatment preserved ERG b-waves and the outer nuclear layer in the rd10 mice to P30. TUDCA is a prime candidate for treatment of humans with retinal degeneration, especially those with Bardet-Biedl syndrome, whom it may help not only with the vision loss, but with the debilitating obesity as well. PMID:22110077

Drack, Arlene V.; Dumitrescu, Alina V.; Bhattarai, Sajag; Gratie, Daniel; Stone, Edwin M.; Mullins, Robert

2012-01-01

33

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus  

Microsoft Academic Search

Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder with substantial inter- and intrafamilial variability, that also exhibits remarkable genetic heterogeneity, with seven mapped BBS loci in the human genome. Recent data have demonstrated that BBS may be inherited either as a simple Mendelian recessive or as an oligogenic trait, since mutations at two loci are sometimes required for pathogenesis. This

Jose L. Badano; Jun Chul Kim; Bethan E. Hoskins; Richard Alan Lewis; Stephen J. Ansley; David J. Cutler; Claudio Castellan; Philip L. Beales; Michel R. Leroux; Nicholas Katsanis

2003-01-01

34

Genetics Home Reference: Bardet-Biedl syndrome  

MedlinePLUS

... signaling pathways. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and ... during development and lead to abnormalities of sensory perception. Researchers believe that defective cilia are responsible for ...

35

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

PubMed Central

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

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

2014-01-01

36

Genetic obesity syndromes.  

PubMed

There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome. PMID:18230893

Goldstone, Anthony P; Beales, Philip L

2008-01-01

37

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

PubMed

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

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

2014-09-01

38

A Case of Hydrometrocolpos and Polydactyly  

PubMed Central

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

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

2015-01-01

39

Prader–Willi and Other Syndromes Associated with Obesity and Mental Retardation  

Microsoft Academic Search

Constitutional obesity and mental retardation cooccur in several multiple congenital anomaly syndromes, including Prader–Willi syndrome, Bardet–Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson–Forssman–Lehmann syndrome as well as some rarer disorders. Although hypothalamic–pituitary axis abnormalities are thought to be a possible causative mechanism in some of these disorders, current knowledge is insufficient to explain the pathophysiologic mechanism of obesity in

M. Gunay-Aygun; S. B. Cassidy; R. D. Nicholls

1997-01-01

40

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.  

PubMed

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

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

2014-11-01

41

Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.  

PubMed

Hirschsprung's disease (HSCR) is a fairly frequent cause of intestinal obstruction in children. It is characterized as a sex-linked heterogonous disorder with variable severity and incomplete penetrance giving rise to a variable pattern of inheritance. Although Hirschsprung's disease occurs as an isolated phenotype in at least 70% of cases, it is not infrequently associated with a number of congenital abnormalities and associated syndromes, demonstrating a spectrum of congenital anomalies. Certain of these syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction, in its pathogenesis. These associations with HSCR include Down's syndrome and other chromosomal anomalies, Waardenburg syndrome and other Dominant sensorineural deafness, the Congenital Central Hypoventilation and Mowat-Wilson and other brain-related syndromes, as well as the MEN2 and other tumour associations. A number of other autosomal recessive syndromes include the Shah-Waardenburg, the Bardet-Biedl and Cartilage-hair hypoplasia, Goldberg-Shprintzen syndromes and other syndromes related to cholesterol and fat metabolism among others. The genetics of Hirschsprung's disease are highly complex with the majority of known genetic sites relating to the main susceptibility pathways (RET an EDNRB). Non-syndromic non-familial, short-segment HSCR appears to represent a non-Mendelian condition with variable expression and sex-dependent penetrance. Syndromic and familial forms, on the other hand, have complex patterns of inheritance and being reported as autosomal dominant, recessive and polygenic patterns of inheritance. The phenotypic variability and incomplete penetrance observed in Hirschsprung's disease could also be explained by the involvement of modifier genes, especially in its syndromic forms. In this review, we look at the chromosomal and Mendelian associations and their underlying signalling pathways, to obtain a better understanding of the pathogenetic mechanisms involved in developing aganglionosis of the distal bowel. PMID:23001136

Moore, S W

2012-11-01

42

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

2015-01-08

43

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration  

PubMed Central

Bardet–Biedl syndrome (BBS) is a syndromic form of retinal degeneration. Recently, homozygosity mapping with a consanguineous family with isolated retinitis pigmentosa identified a missense mutation in BBS3, a known BBS gene. The mutation in BBS3 encodes a single amino acid change at position 89 from alanine to valine. Since this amino acid is conserved in a wide range of vertebrates, we utilized the zebrafish model system to functionally characterize the BBS3 A89V mutation. Knockdown of bbs3 in zebrafish alters intracellular transport, a phenotype observed with knockdown of all BBS genes in the zebrafish, as well as visual impairment. Here, we find that BBS3 A89V is sufficient to rescue the transport delays induced by the loss of bbs3, indicating that this mutation does not affect the function of BBS3 as it relates to syndromic disease. BBS3L A89V, however, was unable to rescue vision impairment, highlighting a role for a specific amino acid within BBS3 that is necessary for visual function, but dispensable in other cell types. These data aid in our understanding of why patients with the BBS3 A89V missense mutation only present with isolated retinitis pigmentosa. PMID:21282186

Pretorius, Pamela R.; Aldahmesh, Mohammed A.; Alkuraya, Fowzan S.; Sheffield, Val C.; Slusarski, Diane C.

2011-01-01

44

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.  

PubMed

Bardet-Biedl syndrome (BBS) is a syndromic form of retinal degeneration. Recently, homozygosity mapping with a consanguineous family with isolated retinitis pigmentosa identified a missense mutation in BBS3, a known BBS gene. The mutation in BBS3 encodes a single amino acid change at position 89 from alanine to valine. Since this amino acid is conserved in a wide range of vertebrates, we utilized the zebrafish model system to functionally characterize the BBS3 A89V mutation. Knockdown of bbs3 in zebrafish alters intracellular transport, a phenotype observed with knockdown of all BBS genes in the zebrafish, as well as visual impairment. Here, we find that BBS3 A89V is sufficient to rescue the transport delays induced by the loss of bbs3, indicating that this mutation does not affect the function of BBS3 as it relates to syndromic disease. BBS3L A89V, however, was unable to rescue vision impairment, highlighting a role for a specific amino acid within BBS3 that is necessary for visual function, but dispensable in other cell types. These data aid in our understanding of why patients with the BBS3 A89V missense mutation only present with isolated retinitis pigmentosa. PMID:21282186

Pretorius, Pamela R; Aldahmesh, Mohammed A; Alkuraya, Fowzan S; Sheffield, Val C; Slusarski, Diane C

2011-04-15

45

Cockayne's syndrome: case report  

PubMed Central

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 with some secondary degenerative changes in the contiguous tissue, and granular ependymitis. Images PMID:4999043

Crome, L.; Kanjilal, G. C.

1971-01-01

46

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

2015-01-06

47

Apical ballooning syndrome (Takotsubo Syndrome): case report  

PubMed Central

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

2013-01-01

48

[A case of Reye's syndrome].  

PubMed

A case of Reye's syndrome was observed in a girl aged 4 years. The diagnosis was based on clinical findings and diagnostic procedures. The diagnostic difficulties in the initial stage of the disease are stressed. PMID:2633498

Maruszewski, W; Krzywiecka, M; Bukowska, C

1989-06-15

49

A case of Rett syndrome.  

PubMed

A case of Rett syndrome in a-3 1/2 year-old girl is presented. The patient had normal pre and perinatal period and normal psychomotor development till the age of 14 months, followed by behavioural, social and psychomotor regression. Physical examination revealed a below normal head circumference, loss of eye and psychic contact, stereotypic hand movements and gait disturbance. No laboratory test can confirm the diagnosis of Rett syndrome, therefore the diagnosis was established by virtue of history of illness and clinical manifestations. This is the first case of Rett syndrome found and reported in Indonesia. PMID:2488241

Lazuardi, S; Advani, N; Ismael, S

1989-01-01

50

[Bartter syndrome--case report].  

PubMed

The authors present the case of 4-month-old girl, who was admitted to our hospital with hypokalemia, metabolic alkalosis, hyperaldosteronism, hyperreninism with normal blood pressure and high urine concentration of PGE2. All the clinical and biochemical features have led to the diagnosis of Bartter syndrome. Treatment consisted of 15% KCI, spironolacton and indometacin. PMID:15517937

Daniluk, Urszula; Kaczmarski, Maciej; Wasilewska, Jolanta; Matuszewska, Elibieta; Semeniuk, Janusz; Sidor, Katarzyna; Krasnow, Aleksander

2004-04-01

51

SUBSCAPULARIS SYNDROME: A CASE REPORT  

PubMed Central

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

Donatelli, Robert A.; Bascharon, Randa

2013-01-01

52

Binder's syndrome: Report of two cases  

PubMed Central

Binder's syndrome is an uncommon entity characterized by midfacial hypoplasia along with Class III incisal relationship. The individuals with this syndrome are easily recognizable and the syndrome is mostly associated with other malocclusions. The current article presents two cases of this rare syndrome and describes its general features. PMID:24688572

Vij, Hitesh; Batra, Puneet; Sadhu, Partha; Vij, Ruchieka

2014-01-01

53

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. PMID:23424686

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

2013-01-01

54

Plummer Vinson syndrome: case report.  

PubMed

Plummer Vinson syndrome is characterised by dysphagia, iron deficiency, anaemia and oesophageal web or webs. This is a case report of a 33 year old Asian female who presented with slowly progressive dysphagia and a long history of iron deficiency anaemia. The anaemia was confirmed on repeated haemograms and a barium swallow revealed an upper oesophageal web. Upper gastrointestinal endoscopy and forceful dilatation were necessary to effect relief of dysphagia. PMID:12002115

Jani, P G

2001-06-01

55

CORRESPONDENCE Open Access EURO-WABB: an EU rare diseases registry for  

E-print Network

diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare, monogenic, autosomal recessive disorders of `a prevalence of not more than 5 affected persons per 10,000 population' [2]. WABB diseases therefore

Boyer, Edmond

56

Introduction Chaperonins represent a ubiquitous and essential family of  

E-print Network

synthesized polypeptides. Here we show that MKKS/BBS6, one of several proteins associated with Bardet-Biedl syndrome (BBS), is a Group II chaperonin-like protein that has evolved recently in animals from a subunit, cytosolic BBS6 does not oligomerize, and the majority of BBS6 resides within the pericentriolar material

Archibald, John

57

Regulating intraflagellar transport.  

PubMed

Kinesin-2 motors mediate anterograde intraflagellar transport (IFT) of IFT particles from the ciliary base to its tip, where particles are remodelled before retrograde transport by dynein 2 motors. Bardet-Biedl syndrome (BBS) and IFT-A proteins are now implicated in regulation of IFT assembly at the ciliary base and tip. PMID:22945257

Pedersen, Lotte B; Christensen, Sřren T

2012-09-01

58

Eagle's syndrome: a case report  

PubMed Central

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

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

2014-01-01

59

Eagle's syndrome: a case report.  

PubMed

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

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

2014-02-01

60

Apert syndrome with omphalocele: a case report.  

PubMed

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

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

2014-09-01

61

Tel Hashomer camptodactyly syndrome: a case report.  

PubMed

Tel Hashomer camptodactyly syndrome (THCS) is a rare autosomal recessive camptodactyly with muscular involvement. The manifestations of THCS other than camptodactyly are clubbed feet, thenar and hypothenar hypoplasia, abnormal palmar creases and dermatoglyphic ridges, spina bifida and mitral valve prolapse. The syndrome was first described by Goodman et al in 1972 and thereafter two further cases with similar phenotype were seen. Herein, we present another case report and review of the literature of other syndromes associated with camptodactyly and mitral valve prolapse. Further cases with this syndrome need to be reported for mapping of the candidate loci. This will help in planning management and genetic counselling. PMID:24171333

Shah, K; Sreekanth, R; Thomas, B; Danda, S

2013-01-01

62

Dental findings in GAPO syndrome: case report.  

PubMed

This article reports the case of a young female adult with GAPO syndrome who presented as a peculiar dental finding unerupted primary and permanent dentitions, which resembled total anodontia on clinical examination. A cephalometric analysis was performed to investigate the alterations in facial bone development. This is the 9th GAPO syndrome case reported in a Brazilian patient. PMID:17262136

da Silveira, Heloísa Emília Dias; Quadros, Onofre Francisco; Dalla-Bona, Reni Raymundo; da Silveira, Heraldo Luis Dias; Fritscher, Guilherme Genehr

2006-01-01

63

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. PMID:17939341

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

2007-01-01

64

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. 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.

2012-01-01

65

Wiedemann–Rautenstrauch Syndrome: First Indian Case  

Microsoft Academic Search

Wiedemann–Rautenstrauch syndrome, also known as neonatal progeroid syndrome (NPS), is an extremely rare genetic disorder characterised\\u000a by an aged appearance at birth. About thirty cases have been reported in the literature. The authors report first Indian baby\\u000a with Wiedemann–Rautenstrauch syndrome with the lowest birth weight documented in such a patient, who is still surviving at\\u000a 24 months. This ethnicity has not

Meenu Pandey; Neeraja Gupta; Madhulika Kabra; Ajay Kumar; Vikram Datta; Arvind Saili

66

Reported Cases of HPS (Hantavirus Pulmonary Syndrome)  

MedlinePLUS

... 95% of reported cases have occurred in states west of the Mississippi River. About three-quarters of ... Rat Habitat White-footed Mouse Habitat Hantavirus Pulmonary Syndrome (HPS) Transmission Signs & Symptoms Diagnosis & Treatment Prevention Hemorrhagic ...

67

Neu-Laxova syndrome: a case report.  

PubMed

Neu-Laxova syndrome (NLS) is a rare lethal syndrome found in both consanguinous and non-consanguinous couple. This is characterized by terrible face with unusual craniofacial appearance with exophthalmos, spectrum of central nervous system malformation, like microcaphaly, hypoplastic cerebellum, cleft lip/palate, ichthyosis and oedema. The diagnosis is made on the basis of clinical parameter. We report a 4 hour old male term newborn with IUGR of Neu-Laxova syndrome presented with anencephaly, rudimentary cerebellum, exophthalmos of right eye, bilateral cleft lip and palate and cryptorchidism. Anencephaly and cryptorchidism are two recently reported findings of NLS. We are presenting this case in addition from Bangladesh to lend further support to those two new findings as component of Neu-Laxova syndrome. Outcome of this syndrome is not good. Most of the patients are died of infection within hours to days. PMID:24584393

Roy, S; Begum, J; Sharifunnaher, B; Saha, A K; Afroza, S; Islam, M Z

2014-01-01

68

Case series on tropical diabetic hand syndrome.  

PubMed

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

Ezeani, I U; Edo, A E

2014-01-01

69

Delleman syndrome: a case report and review.  

PubMed Central

A case of oculocerebrocutaneous syndrome is presented, to our knowledge the first to be reported in West Bank and Gaza. The child was of consanguinous parents. The clinical features of orbital cyst, periorbital cutaneous malformations, and cerebral malformations are described, together with a brief review of previous reports. The need for neurological follow-up of these cases is emphasised. Images PMID:1739706

De Cock, R; Merizian, A

1992-01-01

70

Vanishing Testis Syndrome: Report of Two Cases  

PubMed Central

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

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

2014-01-01

71

A rare case of Kartagener's syndrome  

PubMed Central

A young boy presented with cough and intermittent breathlessness for 3 months. He used to suffer from frequent cough and cold since childhood. Clinical examination revealed bilateral coarse basal crepitations and rhonchi. His apex beat was on right 5th intercostal space in mid-clavicular line. Investigation revealed situs inversus, bi-lateral bronchiectasis, and chronic sinusitis. His semen analysis revealed the complete absence of sperm. The Saccharin test revealed impaired nasal ciliary movement. Considering all the finding, he was diagnosed as a case of Kartagener's syndrome. We are reporting this case because of its rarity and rare presence of aspermia in Kartagener's syndrome. PMID:24678221

Pandit, Sudipta; Choudhury, Sabyasachi; Das, Anirban; Basuthakur, Sumitra; Das, Sibes Kumar

2014-01-01

72

Case report: Goldenhar syndrome following donor oocyte IVF  

PubMed Central

Purpose To describe a case of Goldenhar syndrome in a couple receiving donated oocytes in an ‘egg sharing’ IVF cycle where the recipient of donor oocytes had Turner syndrome, hypothyroidism and gestational diabetes. Methods Case report Results Child born to oocyte recipient with Goldenhar syndrome Conclusions We believe this is the first reported case of a child born with Goldenhar syndrome following use of donated oocytes in IVF by a woman with Turner syndrome, hypothyroidism and gestational diabetes. PMID:20571890

Gittins, Victoria

2010-01-01

73

Rumination Syndrome in Ethiopia: A Case Study  

PubMed Central

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

2014-01-01

74

Assessing PCP in the cochlea of mammalian ciliopathy models.  

PubMed

The increased availability of mouse models of human genetic ciliary diseases has led to advances in our understanding of the diverse cellular roles played by cilia. The family of so-called "ciliopathies" includes Alström Syndrome, Bardet-Biedl Syndrome, Primary Ciliary Dyskinesia, and Polycystic Kidney Disease, among many others. In mouse models of Alström Syndrome and Bardet-Biedl Syndrome, we have shown developmental defects in the mechano-sensory stereociliary bundles on the apical surfaces of "hair" cells in the cochlea, the mammalian hearing organ. Stereocilia are specialized actin-based microvilli, whose characteristic patterning is thought to be dependent on the hair cell's primary cilium ("kinocilium"). Ciliopathy-associated proteins are localized to the ciliary axoneme and/or the ciliary basal body, or to the bundle itself. Ciliopathy-associated genes functionally interact with genes of the noncanonical Wnt pathway, and so implicate PCP in the control of hair cell development. PMID:22218906

Jagger, Daniel J; Forge, Andrew

2012-01-01

75

[Plummer-Vinson syndrome: a case report].  

PubMed

We present a case of Plummer-Vinson syndrome, which is a rare condition nowadays. The diagnosis was made after years of the disease, many doctors having attended the patient. The treatment consisted of oral supplementation of iron and endoscopic dilatations. The patient is asymptomatic. PMID:23538545

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

2013-01-01

76

Anesthesic Management for Escobar Syndrome: Case Report  

PubMed Central

Escobar syndrome is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity. In this case, we presented the anesthesic management of a 2-year-old child undergoing frontal sling operation for ptosis and amblyopia etiology exploration. PMID:21541234

Arpaci, Ayse Hande; Bozkirli, Fusun; Konuk, Onur

2011-01-01

77

Unusual case of adult hemophagocytic syndrome  

PubMed Central

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

Tamizifar, Babak; Samadi, Golnaz; Rismankarzadeh, Maryam

2014-01-01

78

Nicolau Syndrome after Intramuscular Injection: 3 Cases  

PubMed Central

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

Kim, Tae-Heon; Lee, Keun-Cheol

2012-01-01

79

Nicolau syndrome after intramuscular injection: 3 cases.  

PubMed

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

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

2012-05-01

80

May-Thurner Syndrome: A Case Report  

PubMed Central

May-Thurner Syndrome (MTS) or iliac vein compression syndrome is caused by compression of the left common iliac vein by the right common iliac artery. This obstruction may cause leg swelling, varicosities, deep venous thrombosis, chronic venous stasis ulcers, or more serious complications, such as pulmonary embolism. Iliac vein compression can be assessed with computed tomography (CT) and iliac venography. The goals of treatment are to reduce symptoms and to reduce the risk of complications. Stent placement is an alternative method to a direct surgical approach. We present a case of MTS, treated with stent placement.

Duran, Cihan; Rohatgi, Saurabh; Wake, Nicole; Rybicki, Frank J.; Steigner, Michael

2011-01-01

81

Recognizing Diogenes syndrome: a case report  

PubMed Central

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

2014-01-01

82

Goldenhar Syndrome - Review with Case Series  

PubMed Central

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

Sreenivasan, Arathi; Saraswathy, Gopal K

2014-01-01

83

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

PubMed Central

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

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

2013-01-01

84

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

E-print Network

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

Stromswold, Karin

85

Pathology Case Study: Cushing's Syndrome  

NSDL National Science Digital Library

The Department of Pathology at the University of Pittsburgh Medical Center has compiled a wide range of pathology case studies to aid students and instructors in the medical/health science field. This particular case involves a 41 year-old woman experiencing the following symptoms for a period of 18 months: fatigue, weakness, lethargy, and decreased concentration. The patientâ??s history, description of CT scans, and images from histological examinations, which contributed to the conclusive diagnosis, are all provided here for your review. The contributing doctors provide a detailed discussion of the patientâ??s condition in the â??Final Diagnosisâ?ť section. Students will find this resource especially helpful, as it provides experience with patient history, lab results, and diagnostics.

Dacic, Sanja

86

Hermansky-Pudlak Syndrome: A Case Report  

PubMed Central

Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems. PMID:24707413

Berber, Ilhami; Erkurt, Mehmet Ali; Kuku, Irfan; Kaya, Emin; Koroglu, Mustafa; Gul, Mehmet; Bentli, Recep

2014-01-01

87

Hermansky-pudlak syndrome: a case report.  

PubMed

Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems. PMID:24707413

Berber, Ilhami; Erkurt, Mehmet Ali; Kuku, Irfan; Kaya, Emin; Koroglu, Mustafa; Nizam, Ilknur; Gul, Mehmet; Bentli, Recep

2014-01-01

88

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

89

Rare case of orofaciodigital syndrome type I  

PubMed Central

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

2013-01-01

90

A pediatric case of ramsay hunt syndrome.  

PubMed

Ramsay Hunt syndrome (RHS) is characterized by facial paralysis, inner ear dysfunction, periauricular pain, and herpetiform vesicles. The reported incidence in children is 2.7/100,000. The pathogenesis involves the reactivation of latent varicella zoster virus (VZV) in the geniculate ganglion of the facial nerve. The recovery rate is better in children than in adults. This paper discusses a 12-year-old girl with a rare case of peripheral facial paralysis caused by RHS and reviews the literature. PMID:25276457

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

2014-01-01

91

Stiff-Person Syndrome: Case Series  

PubMed Central

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

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

2014-01-01

92

A case report of Poland's syndrome from Indonesia.  

PubMed

Poland's syndrome consists of ipsilateral aplasia of the sternal head of the pectoralis major muscle and symbrachydactyly. The first case of Poland's syndrome to be reported from Indonesia is presented here. PMID:2018446

Rasjad, C; Sutiaksa, I G

1991-04-01

93

Four cases of trisomy 18 syndrome with limb reduction malformations.  

PubMed Central

Limb reduction malformations of the arms are well documented in the trisomy 18 syndrome. Four cases of trisomy 18 syndrome with limb reduction malformations of the legs are described and compared with the upper limb malformations. Images PMID:6492096

Christianson, A L; Nelson, M M

1984-01-01

94

The eye as a window to rare endocrine disorders  

PubMed Central

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

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

2012-01-01

95

Pregnancy with Gilbert Syndrome – A Case Report  

PubMed Central

A primigravida presented to us at 32 weeks of gestation with vomiting, myalgia and jaundice. On examination she had icterus, she was dehydrated, uterus was corresponding to dates and the fetal heart rate was good. On evaluation, all the investigations were normal except mild unconjugated hyperbilirubinaemia and hypoglycaemia. Based on the above findings we derived at a diagnosis of Gilbert syndrome. Dehydration due to vomiting aggravated her jaundice. On correcting her dehydration jaundice resolved, patient improved symptomatically and was discharged two days later. She was later admitted at term and underwent emergency caesarian section in view of fetal distress. Mother and baby were fine postoperatively and was discharged on the fifth postoperative day Gilbert syndrome is rare in obstetric practice. Virtually all patients have decreased activity of Uridine diphosphate glucuronosyl transferase (UDPGT). The case is reported due to its rarity. PMID:25121033

P, Lakshmi Sailaja; Reddy, Peddireddy Vijaya Narasimha

2014-01-01

96

Stewart–Treves syndrome: a case report  

PubMed Central

The Stewart-Treves syndrome was first described in 1948, it's an angiosarcoma developed on a longstanding lymphadenomatous limb, more often after radical mastectomy. Diagnosis is made on skin biopsy and the prognosis is poor when radical surgery can't be performed. We report the case on a Stewart-Treves syndrome in a sixty-six years old woman who underwent radical mastectomy for breast carcinoma ten years earlier. Surgery was not feasible at the time of diagnosis, and we lost touch of the patient even if chemotherapy was decided. Radical surgery is the best treatment to date for this rare disease. Conservative surgery with adjuvant radiotherapy is also possible. Systemic chemotherapy is reserved for locally advanced unresectable and metastatic forms. We advocate long term follow-up for every post mastectomy lymphedema to diagnosis this fatal disease when curable. PMID:25574331

Benmansour, Anis; Laanaz, Saad; Bougtab, Abdeslam

2014-01-01

97

Rubinstein-taybi syndrome: a case report.  

PubMed

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

Münevveroglu, A P; Akgöl, B B

2012-01-01

98

Kallmann syndrome--a case report.  

PubMed

Kallmann syndrome is a very rare hereditary disease. It is characterized by hypogonadotropic hypogonadism in association with anosmia ot hyposmia, both of which occur as a result of the failure of neuronal migration of the luteinizing hormone releasing hormone (LHRH)--secreting neurons and the neurons of the vemeronasal nerve. It can be autosomal dominant, autosomal recessive, or X-linked mode of inheritance. We report a case of Kallmann syndrome that presented with delay puberty, color blindness, gynecomastia, and absence of smell. Plasma levels of LH, FSH and testosterone were very low. The patient's adrenal and thyroid hormone levels were normal. Chromosome analysis showed 46, XY karyotype without deletion in KAL gene (Xp22.3) from FISH. After 9 months of treatment by HCG and HMG, the amount of pubic hair and the volume of bilateral testes, as well as the level of testosterone had increased. Most importantly, motile sperm count be found in semen. PMID:12380326

Li, Ching-Chia; Chao, Mei-Chyn; Huang, Shu-Pin; Chou, Yii-Her; Huang, Chun-Hsiung; Chen, A-Hsiung; Wu, Yi-Ping

2002-07-01

99

[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

100

A strange Evans syndrome: a case report  

PubMed Central

Hepatic angiosarcoma is a rare malignant vascular tumor, which accounts for up to 2% of all primary liver tumors. The most frequent symptoms on presentation are weight loss, weakness and abdominal pain. Diagnosis of diffuse hepatic angiosarcoma can be challenging. We report an original case of diffuse liver angiosarcoma revealed by haematological abnormalities initially diagnosed as an Evans syndrome. Anaemia and thrombocytopenia are rarely the first manifestations of this pathology. They are explained by combination of several mechanisms. Diagnosis of diffuse liver angiosarcoma can be extremely difficult and physicians should be aware of these presentation. PMID:19830043

Le Scanff, Julie; Durupt, Stéphane; Bailly, François; Rode, Agnčs

2009-01-01

101

A Case of Prune Belly Syndrome.  

PubMed

Prune belly syndrome (PBS) is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, "prune-like" abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery-right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection. PMID:23639747

Xu, Wei; Wu, Hui; Wang, Dong-Xuan; Mu, Zhi-Hong

2013-04-29

102

Non-Syndromic Multiple Odontogenic Keratocyst: A Case Report  

PubMed Central

Odontogenic keratocyst (OKC) is a common developmental odontogenic cyst affecting the maxillofacial region. Multiple OKCs are usually seen in association with nevoid basal cell carcinoma syndrome (NBCCS) but approximately 5% of patients with OKC have multiple cysts without concomitant syndromic presentation. This report represents a case of multiple OKCs in a non-syndromic patient PMID:24724137

Kargahi, N; Kalantari, M

2013-01-01

103

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

104

A case of Plummer-Vinson syndrome in childhood.  

PubMed

The Plummer-Vinson syndrome is characterized by an association of dysphagia, iron-deficiency anemia, and esophageal webs. The authors report the case of a 6 year old with Plummer-Vinson syndrome. Plummer-Vinson syndrome usually occurs in adults, rarely in adolescents, however, there have been no previous reports in the English-language literature of the syndrome occurring in childhood. PMID:10549778

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

1999-10-01

105

Scimitar syndrome in a case with VACTERL association.  

PubMed

VACTERL association and Scimitar syndrome are rare congenital diseases. In this study, we report on a neonate with prenatal suspicion of VACTERL association and small left-sided cardiac structures, which, only on postnatal angiography, could be revealed to be part of a Scimitar syndrome. As this is the second reported case of VACTERL association and Scimitar syndrome, the presence of Scimitar syndrome should be considered in the prenatal and postnatal evaluation of VACTERL association. PMID:24905790

Fritz, Christian J; Reutter, Heiko M; Herberg, Ulrike

2015-03-01

106

CASE REPORT Open Access Case report of Ganser syndrome in a 14-year-old  

E-print Network

CASE REPORT Open Access Case report of Ganser syndrome in a 14-year-old girl: another face RĂ©vah-Levy1,5 Abstract The Ganser syndrome is rare in children and in adolescents. A case of the Ganser syndrome in a 14-year-old girl, with three of the four essential features, is presented. After rapid

Boyer, Edmond

107

Surgery for ovarian remnant syndrome. Lessons learned from difficult cases.  

PubMed

Ten cases of ovarian remnant syndrome jointly managed by gynecology and urology departments are presented. Complications of the surgery included a high incidence of ureteral and bowel injury. Preoperative, intraoperative and postoperative considerations may reduce the complications or minimize their significance. One case of ovarian cancer developed among the instances of ovarian remnant syndrome in this series. Preoperative, intraoperative and postoperative considerations can reduce the complications of surgery for ovarian remnant syndrome. PMID:7932397

Elkins, T E; Stocker, R J; Key, D; McGuire, E J; Roberts, J A

1994-06-01

108

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. PMID:22470810

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

2011-01-01

109

[Prune-Belly Syndrome: a case report].  

PubMed

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

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

2014-01-01

110

Olmsted syndrome: report of two cases.  

PubMed

Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female patients of Olmsted syndrome, who presented with perioral hyperkeratosis and palmoplantar keratoderma. One of our patients also had woolly hair from birth and flexion contracture of a digit, while the other had pseudoainhum. There was no cardiac involvement. Hence, the diagnosis of Olmsted syndrome was made. PMID:22121289

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

2011-01-01

111

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

PubMed

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

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

2014-12-01

112

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

113

[Post-polio syndrome. A case report].  

PubMed

Certain acute anterior poliomyelitis survivors express complaints of abnormal fatigue, weakness and muscular atrophy many years after acute onset. These are basic clinical symptoms of so-called post-polio syndrome (PPS). PPS is characterized by a relatively slow, but progressive pathological muscular process, in some cases leading to functional impairment of daily living and professional activity. Breathing, speaking and swallowing impairment are common but not severe medical problems of post-polio patients. Diagnosis is usually based on a typical medical history, electromyographic investigation and exclusion of other diseases presenting similar features. We report a case of PPS in a 49-year-old woman diagnosed in the Neurological Department in Zabrze. Thirty six years after acute anterior poliomyelitis with partial recovery, new symptoms of fatigue, muscular atrophy, exertional dyspnea, walking impairment and joint pain developed. Electromyography revealed features of coexisting spinal denervation and reinnervation in tested muscles. The differential diagnosis excluded other neuromuscular diseases. The patient fulfilled clinical and electromyographic criteria of PPS. PMID:15383963

Bartman, Wojciech; Biernawska, Jolanta; ?Abuz-Roszak, Beata; Kumor, Klaudiusz; Pierzcha?a, Krystyna

2004-01-01

114

Hurler syndrome: orofacial, dental, and skeletal findings of a case.  

PubMed

Hurler syndrome is a disorder of mucopolysaccharide metabolism caused due to inherited deficiencies of lysosomal ?-l-iduronidase activity. We present a case of a 15-year-old male patient presenting with clinical and laboratory characteristics of the syndrome. A rare combination of skeletal, ophthalmologic, and dental findings was observed in this patient. Mucopolysaccharides excretion spot test of urine was positive and an assay of alpha-l-iduronidase enzyme was deficient, confirming the clinical diagnosis of Hurler syndrome. PMID:25134498

Thakur, Arpita Rai; Naikmasur, Venkatesh G; Sattur, Atul

2015-04-01

115

Features of Two Cases with 18q Deletion Syndrome  

PubMed Central

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

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

2014-01-01

116

Scalp-Ear-Nipple Syndrome: A Case Report  

PubMed Central

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

Morales-Peralta, Estela; Andrés, Vivian; Campillo Betancourt, Dainé

2014-01-01

117

Features of two cases with 18q deletion syndrome.  

PubMed

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

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

2014-01-01

118

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

119

A case of neonatal Jeune syndrome expanding the phenotype  

PubMed Central

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

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

2014-01-01

120

Unusual manifestation of the yellow nail syndrome - Case report*  

PubMed Central

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

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

2014-01-01

121

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

ERIC Educational Resources Information Center

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

Chicoine, Brian; McGuire, Dennis

1997-01-01

122

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. PMID:19513137

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

2007-01-01

123

Kindler's syndrome: A rare case report  

PubMed Central

Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. PMID:24963250

Suman, Neelam; Kaur, Simrat; Kaur, Supreet; Sarangal, Vandana

2014-01-01

124

Treacher Collins syndrome: a case study.  

PubMed

Treacher Collins syndrome is a disorder of craniofacial development with high penetrance and variable expressivity. Its incidence is approximately 1 in 50,000 live births. In this article, we describe the orthodontic treatment of an 11-year-old boy with Treacher Collins syndrome. PMID:25439217

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

2014-11-01

125

Case Report: A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome.  

E-print Network

1 Case Report: A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome. Authors Rajiv SK, Raghav S, Sharathbabu NM. A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome://openmed.nic.in/view/subjects/ojhas.html Submitted: Dec 5, 2012; Accepted: Jan 7, 2013; Published: Jan 25, 2013 Abstract: Multiple sclerosis (MS

Carr, Leslie

126

Codeine-Induced Syndrome of Inappropriate Antidiuretic Hormone: Case Report  

PubMed Central

Background: The syndrome of inappropriate antidiuretic hormone was first described in 1957 by Schwartz, and is characterised by hyponatraemia, inappropriately increased urine osmolality and urine sodium, and decreased serum osmolality in a euvolemic patient without edema. A patient with the syndrome of inappropriate antidiuretic hormone should have normal cardiac, renal, adrenal, hepatic, and thyroid functions and should not take any diuretics. Case Report: We present a case of the syndrome of inappropriate antidiuretic hormone caused by codeine and associated with reduced urine volume, increased urine sodium, and decreased serum sodium concentration. Conclusion: The syndrome of inappropriate antidiuretic hormone is a disease that can lead to morbidity and even mortality. Clinicians should measure serum electrolytes intermittently in order to avoid missing the diagnosis of the syndrome of inappropriate antidiuretic hormone in patients using opioid. PMID:25207179

Karahan, Samet; Karagöz, Hatice; Erden, Abdulsamet; Avc?, Deniz; Esmeray, Kübra

2014-01-01

127

[HELLP syndrome associated to Cushing's syndrome--report of two cases].  

PubMed

Pregnancy is a rare occurrence in Cushing's syndrome (CS) and it is associated with severe arterial hypertension in 64.6% of cases; infertility and abortion occur in 75% of patients with CS. In the event of a pregnancy in CS the etiology of hypercortisolism is the cortisol-producing adrenal adenoma in most cases. A most severe complication of high blood pressure in pregnancy is the HELLP syndrome. We report two cases of pregnancy in patients with CS, who developed a severe, sudden and early situation of HELLP syndrome which progressed to fetal death. The first was caused by an adrenal adenoma and the second by an adrenal carcinoma. Pregnancy due to CS can lead to a serious life-threatening situation, like the HELLP syndrome. Special attention should be paid when pregnancy is associated to CS. Early diagnosis leads to specific treatment, in an attempt to reduce de high morbid-mortality in these cases. PMID:15640907

Castro, Rodrigo F; Maia, Frederico F R; Ferreira, Antônio R; Purisch, Saulo; Calsolari, Maria R; Menezes, Patrícia A F C; Victória, Ivana Maria N

2004-06-01

128

A case of the nutcracker syndrome developed after delivery.  

PubMed

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

Tsumura, Koji; Yoshida, Kanae; Yamamoto, Sachi; Takahashi, Sayuri; Iida, Katsuyuki; Enomoto, Yutaka

2014-01-01

129

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

PubMed Central

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

Firouzi-Marani, Shahram; Khoshbin, Masoud

2014-01-01

130

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

PubMed

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

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

2014-10-01

131

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

132

Fahr's Syndrome- An Interesting Case Presentation.  

PubMed

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

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

2013-03-01

133

Adolescent with tourette syndrome and bipolar disorder: a case report.  

PubMed

Tourette syndrome consists of multiple motor tics and one or more vocal tics. Psychopathology occurs in approximately 90% of Tourette syndrome patients, with attention-deficit/hyperactivity, mood, and obsessive-compulsive disorders being common. Additionally, Tourette syndrome and bipolar disorder may be related in some individuals. However, it is unclear why bipolar disorder may be overrepresented in Tourette syndrome patients, and more research is needed. Herein, we report the case of a 15-year-old boy diagnosed with both Tourette syndrome and bipolar disorder, whose symptoms improved with aripiprazole, atomoxetine, and valproate. The patient was diagnosed with Tourette syndrome at 8 years of age when he developed tics and experienced his first depressive episode. The patient had a poor response to a variety of antidepressants and anti-tic medications. A combination of valproate and aripiprazole stabilized both the patient's tics and mood symptoms. It is important to assess individuals with Tourette syndrome for other disorders, including bipolar disorder. The treatment of children and adolescents with both Tourette syndrome and bipolar disorder is an important clinical issue. PMID:25598829

Shim, Se-Hoon; Kwon, Young-Joon

2014-12-01

134

Adolescent with Tourette Syndrome and Bipolar Disorder: A Case Report  

PubMed Central

Tourette syndrome consists of multiple motor tics and one or more vocal tics. Psychopathology occurs in approximately 90% of Tourette syndrome patients, with attention-deficit/hyperactivity, mood, and obsessive-compulsive disorders being common. Additionally, Tourette syndrome and bipolar disorder may be related in some individuals. However, it is unclear why bipolar disorder may be overrepresented in Tourette syndrome patients, and more research is needed. Herein, we report the case of a 15-year-old boy diagnosed with both Tourette syndrome and bipolar disorder, whose symptoms improved with aripiprazole, atomoxetine, and valproate. The patient was diagnosed with Tourette syndrome at 8 years of age when he developed tics and experienced his first depressive episode. The patient had a poor response to a variety of antidepressants and anti-tic medications. A combination of valproate and aripiprazole stabilized both the patient's tics and mood symptoms. It is important to assess individuals with Tourette syndrome for other disorders, including bipolar disorder. The treatment of children and adolescents with both Tourette syndrome and bipolar disorder is an important clinical issue. PMID:25598829

Kwon, Young-Joon

2014-01-01

135

[Ovarian remnant syndrome. Apropos of 4 cases].  

PubMed

Four observations of "residual ovarian syndrome" are presented. This syndrome is to be discriminated from the one of "the remaining ovary". These observations are discussed and compared with literature data. After bilateral ovariectomy--or adnexectomy--generally difficult, appear with a variable reaction time, different unrelated or coupled symptoms: signs of renewal of ovarian hormonal activity after a phase of surgical menopause, pelvic pains, dyspareunia, et cetera.... Clinical, biology, echography and even tomodensitometry lead to the diagnosis. The treatment can be: the return of surgery, the pelvic irradiation, antigonadotropic progestogens or abstention. PMID:3764293

Bouquet de Joliničre, J; de Brux, J; Senčze, J; Ulman, D

1986-01-01

136

[Hemi-neglect syndrome--case report].  

PubMed

A female patient with an ischaemic focal lesion in the non-dominant cerebral hemisphere due to stenosis of the right carotid artery is presented. Besides a mild left hemiparesis the clinical symptomatology included a pronounced hemi-neglect syndrome in the form of unilateral limb akinesia, a failure to respond to stimuli presented to the left of the midline as well as anosognosia and anosodiaphoria. Despite the 6-week rehabilitation training, the neglect syndrome was rather stabilized with only a slight tendency for improvement. PMID:9235511

Seniów, J; Kuczy?ska-Zardzewia?y, A; Cz?onkowska, A

1997-01-01

137

Thoracic Endometriosis Syndrome: Case Report and Review of the Literature  

PubMed Central

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

Azizad-Pinto, Parisa; Clarke, David

2014-01-01

138

Thoracic endometriosis syndrome: case report and review of the literature.  

PubMed

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

Azizad-Pinto, Parisa; Clarke, David

2014-01-01

139

Gorlin-Goltz syndrome: A rare case report  

PubMed Central

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts. PMID:24403808

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-01-01

140

Glucagonoma syndrome: a case report with focus on skin disorders  

PubMed Central

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

Fang, Sheng; Li, Shuang; Cai, Tao

2014-01-01

141

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

PubMed

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

Baseer, Mohammad Abdul; Alenazy, Mohammed Suliman

2013-07-01

142

A rare case of acute compartment syndrome after saphenectomy  

PubMed Central

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

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

2013-01-01

143

A case of Parry-Romberg syndrome and alien hand.  

PubMed

Parry-Romberg syndrome (PRS) is a rare condition characterised by progressive hemi-facial atrophy. Here we present a PRS case with alien-hand syndrome, which has not previously been described in adult onset disease. On the basis of the presumed auto-immune pathology of PRS we justify the treatment strategy we successfully used in this patient. A review of the literature was extensively done for understanding the history of alien hand sign over the years. PMID:24793509

Chokar, Gurjit; Cerase, Alfonso; Gough, Andrew; Hasan, Sibte; Scullion, David; El-Sayeh, Hany; Buccoliero, Rosaria

2014-06-15

144

Case report: Brucella induced Guillain-Barré syndrome.  

PubMed

Neurobrucellosis is relatively uncommon. In a prospective study of 530 patients with brucellosis, neurologic involvement was reported in only 1.7% of the patients. Unlike Campylobacter jejuni, the commonest infection implicated in Guillain-Barré syndrome, there are very few reports in the literature of Guillain-Barré syndrome in association with brucellosis. Out of 1,028 cases of brucellosis, polyneuritis was reported in only 2 out of 58 patients with neurological involvement. PMID:25266352

Elzein, Fatehi Elnour; Mursi, Mohammed

2014-12-01

145

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

PubMed Central

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

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

2014-01-01

146

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

147

Ehlers Danlos Syndrome – A Case Report  

PubMed Central

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

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

2014-01-01

148

A Case of Antley-Bixler Syndrome  

PubMed Central

Antley-Bixler syndrome (ABS) is rare form of craniosynostosis of both autosomal dominant and autosomal recessive inheritance. We are reporting a female term appropriate for gestational age newborn with clinical features of frontal bossing, brachycephaly, proptosis, synostosis of radioulnar joints, hemangioma over nose and philtrum, hydrocephalus suggestive of ABS. PMID:24027687

Lahiri, Subhrajit; Ghoshal, Bhaswati; Nandi, Debabrata

2012-01-01

149

A successfully treated case of disseminated tuberculosis-associated hemophagocytic syndrome and multiple organ dysfunction syndrome.  

PubMed

We report the case of a patient who presented with disseminated tuberculosis-associated hemophagocytic syndrome (HPS). A 40-year-old man was admitted because of fatigue, fever, and renal dysfunction. Chest radiograph and computed tomography scan showed diffuse reticulonodular shadow, and Mycobacterium tuberculosis was identified. Peripheral blood counts decreased rapidly, and bone marrow aspiration revealed hemophagocytosis by macrophages. Despite antituberculous and steroid pulse therapy, multiple organ dysfunction syndrome developed. After plasma exchange and continuous hemodiafiltration were started, hypercytokinemia and vital signs improved dramatically. Although disseminated tuberculosis-associated HPS carries a poor prognosis, acute blood purification may be an effective means of treating HPS involving multiple organ dysfunction syndrome. PMID:11576906

Goto, S; Aoike, I; Shibasaki, Y; Morita, T; Miyazaki, S; Shimizu, T; Suzuki, M

2001-10-01

150

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

PubMed Central

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

Saransh, Jain; Vikas, Dwarkanath Mysore

2014-01-01

151

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

PubMed

This case report offers a multidisciplinary interpretation of the violent death of a 4-year-old girl suffering from Alagille syndrome who died after a low-height fall that resulted in temporal bone fracture and a large epidural hematoma. The article evidences the macroscopical and microscopical characteristics of the syndrome, focusing especially on the skeletal findings that emerged during autopsy. In the case report, distinction is made between a possible accidental or non-accidental nature of the injuries and the characteristics of the injury have been interpreted in the light of the existing data on Alagille syndrome. In conclusion, the death was documented as accidental since abnormalities in the skeletal system evidenced during autopsy have predisposed the death of the child albeit through a very mild head trauma. The case report evidences the importance of studying features of skull macro- and microstructure in patients with Alagille syndrome, which have been, until now, underreported in literature and which might contribute to fracture vulnerability in these patients. Although rare, Alagille syndrome is a condition that should be known to forensic medicine practitioners and whose features and peculiarities must be taken into consideration in pediatric autopsy and suspected child abuse cases. PMID:25194709

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

2014-09-01

152

Mouse models of ciliopathies: the state of the art  

PubMed Central

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

Norris, Dominic P.; Grimes, Daniel T.

2012-01-01

153

Mesothelioma of the testis and nephrotic syndrome: a case report  

PubMed Central

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

2009-01-01

154

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. PMID:21266031

2011-01-01

155

Prune belly syndrome in an adult Nigerian: case report.  

PubMed

Prune Belly Syndrome is a rare congenital anomaly characterized by deficient anterior abdominal wall musculature, bilateral cryptorchidism, bilateral megaureters and often unilateral or bilateral vesico-ureteric junction obstruction. The report of prune belly syndrome in the adult is scanty. We report a case of prune belly syndrome in a 24 year old Nigerian who presented with 3 year history of recurrent right loin pain. Examination showed wrinkled abdominal skin, bilateral undescended testes and an hypoplastic rectus abdominis, below the umbilicus. Further evaluation revealed enlarged bladder, bilateral megaureters and right intra-abdominal testis. A diagnosis of Prune Belly Syndrome was made. The challenges in the diagnosis and management of this rare condition are highlighted in this presentation. PMID:20499630

Salako, A A; Takure, A O; Olajide, A O; Aarowolo, O A; Egberongbe, A A

2009-12-01

156

A Metabolic Syndrome Case Presenting with Lymphocytic Mastitis  

PubMed Central

Summary Background Lymphocytic mastitis is a disease of premenopausal women, and its association with type 1 diabetes mellitus is the basis for its alternative name ‘diabetic mastopathy’. It is a benign condition but must be considered in the differential diagnosis of breast cancer, especially in diabetic patients. Case Report We present the case of an overweight 50-year-old dyslipidemic woman with metabolic syndrome presenting with lymphocytic mastitis. Conclusion Although lymphocytic mastitis is usually regarded as an autoimmune disease seen mostly in diabetic patients, it may also be seen in nondiabetic patients with metabolic syndrome who do not have an autoimmune disease. PMID:24715834

Bilir, Betul Ekiz; Atile, Neslihan Soysal; Bilir, Bulent; Guldiken, Sibel; Tuncbilek, Nermin; Puyan, Fulya Oz; Sezer, Atakan; Coskun, Irfan

2012-01-01

157

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] [Altonaer Kinderkrankenhause, Hamburg (Germany); and others

1996-09-06

158

Macrocephaly-capillary malformation syndrome: three new cases.  

PubMed

Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly-Capillary Malformation (M-CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, joint laxity, thickened subcutaneous tissue and 2/3 syndactyly of the toes. We evaluated three patients who demonstrated characteristic features of the disorder. Patients seen in the Genetic clinic of a tertiary care center were subjects of the analysis. We present three cases of overgrowth syndrome with common features of macrocephaly, capillary malformation, dysmorphic face and abnormal neurocognitive profile. These features are consistent with the newly defined M-CM syndrome. This condition must be differentiated from other overgrowth syndromes for appropriate surveillance for known complications and genetic counseling. We discuss the diagnostic criteria for the disorder and also recommend to include typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, considering it as minor criterion on the basis of findings in present cases. One of the cases had bluish white iris which has not been described earlier. PMID:22029941

Panigrahi, Inusha; Bhushan, Mani; Yadav, Mukesh; Khandelwal, Niranjan; Singhi, Pratibha

2012-02-15

159

A Case of Congenital Syndromic Hydrocephalus: A Subtype of ‘Game-Friedman-Paradice Syndrome'  

PubMed Central

Human hydrocephalus is a disorder of abnormality in CSF flow or resorption, which has been classified in pertinent literature as congenital and acquired. Congenital hydrocephalus can present as an isolated phenomenon which is common; or with associated anomalies affecting other organs, disturbing physiology or presenting as a syndrome. This report describes a case with congenital foetal hydrocephalus, hypoplastic lungs with super-numery lobations and large left lobe of liver compared to right. Thus far, a review of the literature indicates that this case can be postulated as a subtype of Game-Friedman-Paradice syndrome. PMID:23386950

Jana, Tapan Kumar; Roy, Hironmoy; Giri, Susmita

2013-01-01

160

Senior-Loken Syndrome with Rare Manifestations: A Case Report  

PubMed Central

Senior-Loken syndrome refers to a disorder in which there is a combination of nephronophthisis and retinal dystrophy. The earliest presenting signs of the renal component are polyuria and polydipsia secondary to defective urinary concentrating ability. Nephronophthisis progresses to end-stage renal disease during the second decade. The retinal lesions are variable, ranging from severe infantile onset retinal dystrophy to more typical retinitis pigmentosa. There is a spectrum of other associated features, including skeletal, dermatological and cerebellar anomalies, observed in this entity. Here, we report a case of Senior-Loken syndrome associated with small hand (short metacarpals) and madarosis. To date, there are no cases reported in the literature describing the association of madarosis with this syndrome, and the presence of small hands has been reported only once.

Aggarwal, Harikrishan K.; Jain, Deepak; Yadav, Sachin; Kaverappa, Vipin; Gupta, Abhishek

2013-01-01

161

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. PMID:23396672

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

2012-01-01

162

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

2012-06-01

163

Diagnosis and treatment of SAPHO syndrome: A case report  

PubMed Central

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

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

2014-01-01

164

A Case of Vander Woude Syndrome with Rare Phenotypic Expressions  

PubMed Central

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

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

2014-01-01

165

Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome  

PubMed Central

Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. Here, we report a case of 58-year-old man from Ardabil who presented with seizure due to hypocalcemia. Further history revealed bilateral deafness. Audiogram confirmed sensorineural hearing loss of both sides. His laboratory data were consistent with hypoparathyroidism and renal failure. He was diagnosed to have Barakat syndrome based on his clinical and laboratory data. In conclusion, we need to be aware of rare inherited conditions in a patient with abnormal physical and laboratory findings even though their initial presentation was seizure and hypocalcemia. PMID:24527244

Bashardoust, Bahman; Iranparvar Alamdari, Manouchehr; Tavosi, Zahra

2013-01-01

166

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

PubMed

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

Kwan, Clara; Mastrine, Lou; Moskovits, Manfred

2013-01-01

167

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

PubMed Central

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

Kwan, Clara; Mastrine, Lou; Moskovits, Manfred

2013-01-01

168

Joubert Syndrome: Imaging Features and Illustration of a Case  

PubMed Central

Summary Background Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus. Case Report We present another case of this uncommon syndrome in a 12 years old patient presenting with classical complaints of developmental delay, intellectual impairment, weakness in both lower limbs, ataxia and abnormal facies and diagnosed on Computed Tomography. Conclusions Joubert Syndrome should be ruled out in all patients presenting with hypotonia, ataxia, nystagmus, breathing abnormalities and developmental delay. Its neuroimaging hallmarks include molar tooth sign and batwing shaped fourth ventricle. As JS is associated with multiorgan involvement, these patients should enter a diagnostic protocol to assess systemic abnormalities. Extreme caution should be taken while administering drugs in these patients as they are prone to respiratory depression. PMID:25360184

Arora, Richa

2014-01-01

169

Terson syndrome with no cerebral hemorrhage: A case report  

PubMed Central

The present study reports the case of a 33-year-old male who presented with Terson syndrome with no cerebral hemorrhage secondary to traumatic brain injury (TBI). A computed tomography scan of the patient, who had sustained an impact injury to the right occipital region, showed no cerebral lesion. Ophthalmoscopy clearly demonstrated vitreous hemorrhage in both eye globes. Vitreous hemorrhage, which results from an abrupt increase in intracranial pressure (ICP), is associated with TBI. In this case, the visual disturbance was attributed to Terson syndrome secondary to TBI. Therefore, close ophthalmological and radiological evaluation is required in patients with TBI, in order to enable the diagnosis of Terson syndrome and an early vitrectomy. PMID:24348800

JING, XIAO-BIN; SUN, LI-QIAN

2014-01-01

170

Ellis-van Creveld Syndrome: A Case Report  

PubMed Central

ABSTRACT Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a rare genetic disorder of the skeletal dysplasia. ‘Six-fingered dwarfism’ (digital integer deficiency) was an alternative designation used for this condition when it was being studied in the Amish. It is characterized by short-limb dwarfism, polydactyly, malformation of the bones of the wrist, dystrophy of the fingernails, partial hare-lip, cardiac malformation and often prenatal eruption of the teeth. A typical case of Ellis-van Creveld syndrome is reported in the present article. How to cite this article: Singh S, Arya V, Daniel MJ, Vasudevan V. Ellis-van Creveld Syndrome: A Case Report . Int J Clin Pediatr Dent 2012;5(1):72-74. PMID:25206139

Arya, Vandana; Daniel, M Jonathan; Vasudevan, Vijeev

2012-01-01

171

CASE REPORT Open Access Atypical case of Wolfram syndrome revealed  

E-print Network

as profound thiamine deficiency without a clear nutritional cause. Targeted exome sequencing revealed. Furthermore, the finding of unexplained thiamine deficiency in a patient with Wolfram syndrome suggests a potential link between WFS1 biology and thiamine metabolism that has implications for the clinical

Mootha, Vamsi K.

172

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

173

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

174

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

175

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

PubMed Central

Key Clinical Message Even minor surgical interventions can have serious complications. Lemierre's syndrome is rare and to our best knowledge never before described after gynecological surgery; however, it should be considered in case of rapidly developing respiratory problems after even simple surgical procedures. PMID:25356246

Hedengran, Katrine Kaare; Hertz, Jens

2014-01-01

176

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

PubMed

Pickardt syndrome (Pickardt-Fahlbusch syndrome) is a rare congenital syndrome characterized by tertiary hypothyroidism caused by the interruption of the portal veins between hypothalamus and adenohypophysis. Typical features of this syndrome are tertiary hypothyroidism with low thyroid stimulating hormone, hyperprolactinemia and other pituitary hormone deficiencies. Pituitary stalk interruption syndrome is characterized by a triad of thin or interrupted pituitary stalk, aplasia or hypoplasia of the anterior pituitary and absent or ectopic posterior pituitary (EPP) seen on magnetic resonance imaging (MRI). It is a congenital anomaly of pituitary whose exact prevalence is unknown. In some cases, it is restricted to EPP or pituitary stalk interruption. We are presenting the case history along with MRI finding of three children's who presented with short stature and delayed puberty. PMID:25250085

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

2014-05-01

177

Concurrent insulinoma with mosaic Turner syndrome: A case report  

PubMed Central

Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

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

2015-01-01

178

Churg Strauss Syndrome – A Case Report  

PubMed Central

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

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

2014-01-01

179

Panayiotopoulos syndrome: a case series from Turkey.  

PubMed

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

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

2014-07-01

180

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

PubMed Central

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

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

2013-01-01

181

A case of Vernet syndrome associated with internal jugular phlebectasia.  

PubMed

A 36-year-old woman presented with right shoulder weakness after a left parotid tumor resection. The overall clinical presentation included severe paralysis and atrophy of the right sternocleidomastoid and upper trapezius, an absent right gag reflex, and diminished right posterior tongue pinprick sensation. A diagnosis of right-sided Vernet syndrome (cranial nerve IX, X, XI lesions) was made, presumably from compression of cranial nerves by internal jugular vein phlebectasia. To our knowledge, this is the first case report of spontaneous Vernet syndrome associated with internal jugular vein phlebectasia in the absence of other lesions of the jugular foramen. PMID:24998404

Daley, Nicholas C; Colliver, Ethan B

2014-12-01

182

[Budd-Chiari syndrome illustrated by four case reports].  

PubMed

Budd-Chiari syndrome (BCS) represents obstruction of hepatic venous drainage. Patients with BCS must be managed individually, because the localisation of the obstruction, the cause, and natural history of the specific lesion differ between patients. We report four cases of Budd-Chiari syndrome where the first patient (who was protein C-deficient, took an oral contraceptive, and smoked) was successfully treated with transjugular intrahepatic portosystemic shunt (TIPS), the second patient (with polycythaemia vera) was treated with venesection and anticoagulation, the third patient underwent a successful liver transplantation. The last patient had a congenital vascular web and was treated by stenting. PMID:12107952

Grřnbaek, Henning; Nielsen, Dennis Třnner; Astrup, Lone Bording

2002-06-17

183

Early surgical treatment in a case of myoclonus dystonia syndrome.  

PubMed

Myoclonus dystonia syndrome is often misdiagnosed in young children and appropriate treatment is delayed, which has a negative impact on motor development, participation, and emotional well-being. In severely affected patients, deep brain stimulation of the globus pallidus internus has been used successfully to treat both dystonia and myoclonus. Here, the authors present a case of early successful treatment of myoclonus dystonia syndrome by pallidal deep brain stimulation in a patient at the age of 17 years leading to 83% reduction in dystonia score and 89% reduction in myoclonus. The patient gained significant improvement in motor function as well as increased participation and reduced stigma. PMID:24453142

Kühn, Andrea A; Krause, Patricia; Lauritsch, Katharina; Zentner, Christian; Brücke, Christof; Schneider, Gerd-Helge

2014-11-01

184

An Apparently Classical Case Report of Sturge-Weber Syndrome.  

PubMed

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

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

2014-11-11

185

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

PubMed

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

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

2009-01-01

186

The cocaine "body stuffer" syndrome: a fatal case.  

PubMed

Body stuffer, sometimes called "mini packer", is the definition of someone who admits to or is strongly suspected of ingesting illegal drugs in order to escape detection by authorities, and not for recreational purposes or to transport the drug across borders. Cocaine is the drug most commonly involved in the body stuffer syndrome. Reported cases of body stuffer deaths are rare, however a fatality related to the ingestion of a plastic bag containing cocaine is described regarding a 17-year-old dealer. The authors describe how the cocaine body stuffer syndrome differs from the usual body packer. Histological and toxicological findings are examined and discussed for a better definition of this unique syndrome. PMID:11955824

Fineschi, Vittorio; Centini, Fabio; Monciotti, Floriana; Turillazzi, Emanuela

2002-03-28

187

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

2005-01-01

188

POEMS syndrome – A case report revealing a complex evolving diagnosis  

PubMed Central

Key Clinical Message Description of POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, Skin changes) goes back to 1938 when a patient with sensorimotor peripheral neuropathy, hyperpigmemntation, solitary plasmacytoma, and elevated cerebral spinal fluid protein was reported. Since then, numerous other cases of this condition have been described by various authors including one that followed the first case 18 years later about two patients. Even though this rare condition still remains an oddity in diagnosis calling for clinicians to have a high index of suspicion due to its manifestation with varied clinical features. We present a case of POEMS syndrome that started as an episode of transient ischemic attack (TIA) and elevated levels of digestive enzymes not previously reported.

Gachoka, David N; Prince, Gregory

2015-01-01

189

Kluver-Bucy syndrome -- an experience with six cases.  

PubMed

The Kluver-Bucy syndrome (KBS) is a neurobehavioral syndrome and can be seen in association with a variety of neurological disorders. Case records of 6 patients with KBS seen during a period of 5 years in a university hospital were reviewed. During the study period 6 patients with KBS, aged between 4 and 14 years, were seen. Hyperorality, hypersexuality, and abnormal behavior were the most common manifestations. Of the 6 patients, 5 had recurrent unprovoked seizures. The associated neurological disorders included anoxia-ischemic encephalopthy (2), herpes simplex encephalitis (1), neurocysticercosis (NCC) (1), traumatic brain injury with gliosis (1 case) and tuberculous meningitis (1 case). Prognosis was poor in all the patients except in the patient with NCC. PMID:15472430

Jha, Sanjeev; Patel, R

2004-09-01

190

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. PMID:23205369

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

2012-01-01

191

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

PubMed

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

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

2003-01-01

192

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

PubMed Central

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

2014-01-01

193

Spondylodiscitis in SAPHO syndrome. A series of eight cases  

PubMed Central

OBJECTIVE—To determine the frequency, clinical features, and radiological and bone scintigraphic changes of spondylodiscitis in patients with SAPHO (synov-itis, acne, pustulosis, hyperostosis, and osteitis).?METHODS—The study was retrospective. Data from patients with the diagnostic criteria of SAPHO syndrome were analysed for clinical features, biological data (HLA B antigen), and pelvic and spine x rays. Spine computed tomography (CT) or magnetic resonance imaging (MRI) were also examined in some cases.?RESULTS—25 patients with a diagnosis of SAPHO were seen since 1985. Eight had spondylodiscitis. These included five with palmoplantar pustulosis, one with pustular psoriasis, one with psoriasis vulgaris, and one with chronic recurrent multifocal osteomyelitis without skin disease. The skin lesion occurred before the spondylodiscitis in four cases. Chest wall involvement was observed in four cases and sacroiliac joint lesions only in the case with osteomyelitis. HLA B27 was always negative and HLA B8 was found in four cases. Radiological findings consisted of erosive or sclerosing remodelling of endplates with a narrowed disc space; a reduced height of the vertebral body was also observed in some cases. These spinal lesions occurred in the three vertebral segments. Multiple sites of spondylodiscitis in the same patient were common. Bone scan showed mildly increased uptake and CT and MRI were useful for detecting signs of infection such as abscess. Enhanced signals on T2 weighted sequence or after injection of gadolinium were often observed. Follow up study of most of these patients suggests that the prognosis of spondylodiscitis in the SAPHO syndrome is favourable.?CONCLUSIONS—Despite few description in the literature, spondylodiscitis in the SAPHO syndrome is common (32% in this series). These radiological findings are similar to the discovertebral changes of spondylodiscitis in ankylosing spondylitis, thus giving support to the relations between SAPHO syndrome and spondyl-arthropathies. However, this does not mean that the pathogenic mechanisms are the same in these two conditions.?? PMID:9059142

Toussirot, E; Dupond, J; Wendling, D

1997-01-01

194

Structural basis for membrane targeting of the BBSome by ARL6.  

PubMed

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

Mourăo, André; Nager, Andrew R; Nachury, Maxence V; Lorentzen, Esben

2014-12-01

195

Ovarian remnant syndrome: a case report.  

PubMed

A case is reported of ureteral obstruction due to retained corpus luteum. The patient had previously undergone a hysterectomy and salpingo-ovariectomy with incomplete removal of ovarian tissue on both sides. The ureteral obstruction was treated by the excision of the mass and the reimplantation of the obstructed ureter into the bladder hitched to psoas muscle. PMID:2141720

Visentini, E; Bondavalli, C; Pegoraro, C; Schiavon, L; Dall'Oglio, B; Parma, A

1990-03-01

196

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

PubMed Central

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

Dahlgren, James; Wardenburg, Marla; Peckham, Trevor

2010-01-01

197

Mirizzi’s syndrome masquerading as cholangiocarcinoma: a case report  

PubMed Central

Introduction Mirizzi’s syndrome is a rarely observed disorder that presents with obstructive jaundice. The condition is caused by a stone impacted in the gall bladder neck or cystic duct that impinges on the common hepatic duct, with or without a cholecystocholedochal fistula. The condition is often confused with other serious conditions such as hilar cholangiocarcinoma, which present with similar clinical and imaging findings, and a pre-operative diagnosis may be a serious challenge. Case presentation We present the case of a 44-year-old Asian man with Mirizzi’s syndrome who was initially diagnosed as having cholangiocarcinoma based on his clinical presentation, raised cancer antigen 19–9 levels and radiological findings. Our patient was diagnosed as having Mirizzi’s syndrome intra-operatively and subsequently a cholecystectomy was performed with restoration of biliary drainage. Careful clinical assessment during surgery with the help of intra-operative frozen section helped in establishing the definitive diagnosis and altered the surgical procedure for our patient. Conclusions Pre-operative diagnosis of Mirizzi’s syndrome could be challenging as the clinical, biochemical and radiological presentation is similar to other conditions causing obstructive jaundice such as choledocholithiasis, bile duct stricture or cholangiocarcinoma. A high index of suspicion and careful surgical assessment may help in establishing a diagnosis and alter the clinical course for our patient. PMID:22703944

2012-01-01

198

Gorlin and Goltz Syndrome: A Case Report with Surgical Review  

PubMed Central

ABSTRACT Gorlin and Goltz syndrome are a very complex syndrome and a multisystemic process that is characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falx cerebri. Along with these major features a great number minor features have also been described which involves numerous skeletical, dermatology related, neurological, ophthalmological and reproductive anomalies. It exhibits high penetrance and variable expressivity. Presented here is the case of Gorlin-Goltz in a 12 years old male patient which was diagnosed through its oral and maxillofacial manifestations. Treatment of odontogenic keratocyst was done by enucleation without primary suturing. Iodoform dressing was kept to enhance the healing and to reduce the recurrence of the lesion. It is important to provide the early diagnosis for detection of clinical and radiological manifestations in young patients and for provision of advice concerning preventive treatment like protection of the skin from the sunlight and genetic sensitivity testing so that possible complications associated with this syndrome can be prevented. How to cite this article: Bahadure RN, Jain ES, Badole GP. Gorlin and Goltz Syndrome: A Case Report with Surgical Review. Int J Clin Pediatr Dent 2013;6(2):104-108. PMID:25206202

Surendraji Jain, Eesha; P Badole, Gautam

2013-01-01

199

Aqueous misdirection syndrome: an interesting case presentation  

PubMed Central

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

Moinul, Prima; Hutnik, Cindy ML

2015-01-01

200

Spontaneous resolution of quadrilateral space syndrome: a case report.  

PubMed

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

Gregory, Thomas; Sangha, Harpreet; Bleakney, Robert

2015-01-01

201

[Persistent Müllerian duct syndrome with seminoma: report of a case].  

PubMed

Persistent Müllerian duct syndrome is a male hermaphroditism in which remnants of Müllerian ducts occur from abnormality of Müllerian inhibitory factor and often cause transverse testicular ectopia or hernia uteri inguinalis. A 22-year-old-man was admitted with the chief complaint of painless swelling of the right scrotal content. Preoperative diagnosis was right testicular tumor and left undescended testis. High orchiectomy was done. At operation left transverse testicular ectopia and a remnant Müllerian duct was found incidentally. The right testicular tumor was seminoma pT1. Sixty-seven cases of transverse testicular ectopia have been reported in Japan, 37 of which are reports of a remnant Müllerian duct. Ten of these cases were accompanied by tumors. The pathogenesis and treatment of persistent Müllerian duct syndrome were discussed with review of the literature. PMID:4091131

Morikawa, M; Wakabayashi, A; Nakata, Y; Tokunaka, S; Takamura, T; Yachiku, S

1985-10-01

202

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

2013-04-01

203

Pathology Case Study: Irritable Bowel Syndrome (IBS)  

NSDL National Science Digital Library

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

Finkelstein, Sidney; Kulich, Scott

2009-08-07

204

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

205

Hypoglossia-Hypodactyly Syndrome with Short Stature - A Case Report  

PubMed Central

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

Goyal, Manisha; Singh, Ankur; Singh, Pratiksha

2014-01-01

206

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

207

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

PubMed

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

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

2014-06-01

208

Moyamoya syndrome with antiphospholipid antibodies: a case report and literature review.  

PubMed

Moyamoya syndrome is a term applied to typical moyamoya vasculopathy with well-recognized associated conditions. Several systematic studies on the entities of moyamoya syndrome with autoimmune disease have been reported. We report a case of moyamoya syndrome with antiphospholipid antibodies and provide a review of relevant cases from the literature, describing the clinical characteristics and treatments. PMID:24939972

Wang, Z; Fu, Z; Wang, J; Cui, H; Zhang, Z; Zhang, B

2014-10-01

209

Trisomy 4p syndrome: A case report with review  

SciTech Connect

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

Patel, S.V.; Dagnew, H.; Parekh, A.J. [Long Island College Hospital, Brooklyn, NY (United States)] [and others

1994-09-01

210

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

211

Broken heart syndrome: a case report.  

PubMed

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

Jenab, Yaser; Taher, Mohamad; Shirzad, Samira

2012-08-01

212

[Catastrophic antiphospholipid syndrome complicated by cardiogenic shock - a case report].  

PubMed

A case of a 29-year-old woman 18 days after delivery with catastrophic antiphospholipid syndrome secondary (CAPS) due to undiagnosed systemic lupus erythematosus, leading to cardiogenic shock is reported. Laboratory evaluation revealed increased anticardiolipin antibodies, lupus anticoagulant, antinuclear antibody and thrombocytopenia. Left ventricular ejection fraction was 20%, neurologic deficit and acute renal failure were also present. Cardiac involvement is common in CAPS, but cardiomyopathy due to microvascular thrombosis is rare. CAPS should be considered as a cause of acute heart failure in a women with systemic lupus erythematosus. In the presented case early therapy with anticoagulants, steroids, immunoglobulins and plasmaferesis was beneficial. PMID:19650000

Zieba, Bozena; Wegrzyn, Agnieszka; Mital, Andrzej; Szczepi?ska-Nowak, Maria; Lewicki, Lukasz; Chmielecki, Micha?; Puchalski, Wies?aw; Rynkiewicz, Andrzej

2009-07-01

213

[Pseudo-Hakim-Adams syndrome. Neuropsychological study of 23 cases of misdiagnosed Hakim-Adams syndrome].  

PubMed

The authors study the characteristics of a group of 23 patients for whom an initial tentative diagnosis of Hakim-Adams syndrome (H-A syndrome) was eventually rejected. On account of several factors distinguishing these patients from the true H-A group, the authors propose using the term "pseudo Hakim-Adams syndrome". The distinguishing factors include: the grounds for admission, i.e. mental or mnesic deterioration, associated with radiological images of ventricular dilatation; a clinical picture dominated by mental disorders with only rare disorders of gait and sphincter control (several neurological defects were direct consequences of previous cerebral disease); no antecedents of spontaneous meningeal hemorrhage or meningitis in the case history; neuropsychological examination showing fewer disorders of concentration and less dyscalculia and constructive dyspraxia than in true HA, and far more atypical signs of the aphasic and anxio-depressive type. The authors think that various pathological processes may be responsible for this pseudo H-A syndrome in which a predominant mental picture is associated with ventricular dilatation. PMID:7136480

De Mol, J; D'Haens, J; Brihaye, J

1982-01-01

214

A challenging case of gastric outlet obstruction (Bouveret's syndrome): a case report  

PubMed Central

Introduction Bouveret's syndrome is a clinically distinct form of gallstone ileus caused by the formation of a fistula between the biliary tract and duodenum. This case reinforces the need for early recognition and treatment of Bouveret's syndrome, as it is associated with high morbidity and mortality rates. Case presentation An 82-year-old Caucasian woman presented with signs and symptoms of small bowel obstruction. Her laboratory workup showed elevated alkaline phosphatase and amylase levels. Computed tomography of her abdomen revealed pneumobilia, a choledochoduodenal fistula and a gallstone obstructing her distal duodenum. The impacted gallstone could not be extracted endoscopically, so our patient underwent open enterolithotomy successfully. However, the postoperative course was complicated by myocardial infarction, respiratory failure and disseminated intravascular coagulation. She died 22 days after surgery, secondary to cardiopulmonary arrest. Conclusion This case clearly highlights the considerable morbidity and mortality associated with Bouveret's syndrome. PMID:21970809

2011-01-01

215

[Necrotizing fasciitis with toxic shock-like syndrome. Case report].  

PubMed

Fulminant group A streptococcal infection with necrotizing fasciitis and toxic shock-like syndrome is rare in Taiwan. We had diagnosed a case of necrotizing fasciitis with toxic shock-like syndrome in January, 1990. Tracing the patient's history, he was rather well in the past except that he scratched his skin occasionally. Erythromatous change with swelling and painful sensation of skin over medial aspect of left thigh was noted 4 days before admission. He called on local dermatologist and was treated with some topical medication. Unfortunately, the condition went downhill within 2 days with the lesion extending to the scrotum and causing vesicular formation and necrotic change of the skin over left thigh and scrotum. He was sent to our Emergency Room in shock condition and was admitted under impression of necrotizing fasciitis with septic shock. Incision and drainage was done in the second hospital day and group A streptococcus was isolated from blood and skin later. His condition became stable slowly. Due to extensive necrosis of skin and subcutaneous tissue, debridement had been done twice and skin graft was done one month after admission. We report this case to emphasise the rare but fulminant nature of group A streptococcal necrotizing fasciitis with toxic shock-like syndrome and the importance of early surgical and medical management. PMID:2177364

Chen, Y M; Tarng, D C; Wang, L S

1990-08-01

216

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

PubMed Central

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

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

2008-01-01

217

Isotretinoin-associated Sweetżs syndrome: a case report.  

PubMed

ObjectiveSweetżs syndrome (SS) is characterized by various clinical symptoms, physical features, and pathological findings. Although cases of SS are very rare, there has been an increase in the incidence of drug-induced SS. Till date, there have been only few reported cases of isotretinoin-induced SS.Case summaryIn this report, we describe the case of a 19-year-old girl who developed SS after systemic treatment with oral isotretinoin for nodulocystic acne.ConclusionsThe findings of this report emphasize the importance of evaluating isotretinoin as a possible, though uncommon, cause of SS and replacing it with another treatment if its involvement is suspected. PMID:25324016

Moghimi, Jamileh; Pahlevan, Daryiush; Azizzadeh, Maryam; Hamidi, Hamid; Pourazizi, Mohsen

2014-10-17

218

Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report*  

PubMed Central

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

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

2013-01-01

219

Surviving anaphylactoid syndrome of pregnancy: A case study.  

PubMed

Anaphylactoid Syndrome of Pregnancy (ASP) is a rare complication of delivery in mother and/or infant during the process of birth. Known as either Anaphylactoid Syndrome of Pregnancy or Amniotic Fluid Embolism, the maternal mortality rate worldwide for this complication is between 10 and 16% while the fetal mortality rate is upwards of 30%. The majority of maternal survivors are expected to have long - term neurologic deficit. While the majority of infants will survive, the majority will also incur some form of neurologic defect. This report is of a case in which both the mother and infant survived with discharge occurring at eleven days for the mother and eighteen days for the infant. PMID:23772472

Healy, Brandon R; Leclair, Susan

2013-01-01

220

Sudden death due to Eagle syndrome: a case report.  

PubMed

Eagle syndrome represents symptoms manifested by compression of regional structures by elongation of the styloid process or ossification of the stylohyoid membrane. Various theories have been put forward toward the development of Eagle syndrome. Depending on the underlying pathogenetic mechanism and the anatomical structures compressed or irritated by the elongated styloid process, symptoms vary greatly, ranging from cervicofacial pain to cerebral ischemia. Because the symptoms are variable and nonspecific, patients land up in different clinics for treatment. In the present case, the victim had previous episode of unconsciousness along with frequent headache for which she visited various clinics on numerous occasions. The elongated styloid process was appreciated during the postmortem examination, and the diagnosis of sudden death due to mechanical irritation of the carotid sinus by elongated styloid process was made as the sign of acute cardiovascular failure was present and upon exclusion of other causes of death. PMID:23949139

Kumar, Pradeep; Rayamane, Anand P; Subbaramaiah, Mouna

2013-09-01

221

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

PubMed Central

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

Thakur, Arpita Rai; Naikmasur, Venkatesh G

2014-01-01

222

A Challenging Case of an Ectopic Cushing Syndrome  

PubMed Central

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

Menezes Nunes, Joana; Camőes, Isabel; Maciel, Joăo; Cabral Bastos, Pedro; Souto de Moura, Conceiçăo; Bettencourt, Paulo

2014-01-01

223

Frasier syndrome: four new cases with unusual presentations.  

PubMed

Frasier syndrome (FS) is characterized by gonadal dysgenesis and nephropathy. It is caused by specific mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23. Patients with the 46,XY karyotype present normal female genitalia with streak gonads, and have higher risk of gonadal tumor, mainly, gonadoblastoma. Therefore, elective bilateral gonadectomy is indicated. Nephropathy in FS consists in nephrotic syndrome (NS) with proteinuria that begins early in childhood and progressively increases with age, mainly due to nonspecific focal and segmental glomerular sclerosis (FSGS). Patients are generally unresponsive to steroid and immunosuppressive therapies, and will develop end-stage renal failure (ESRF) during the second or third decade of life. We report here four cases of FS diagnosis after identification of WT1 mutations. Case 1 was part of a large cohort of patients diagnosed with steroid-resistant nephrotic syndrome, in whom the screening for mutations within WT1 8-9 hotspot fragment identified the IVS9+5G>A mutation. Beside FS, this patient showed unusual characteristics, such as urinary malformation (horseshoe kidney), and bilateral dysgerminoma. Cases 2 and 3, also bearing the IVS9+5G>A mutation, and case 4, with IVS9+1G>A mutation, were studied due to FSGS and/or delayed puberty; additionally, patients 2 and 4 developed bilateral gonadal tumors. Since the great majority of FS patients have normal female external genitalia, sex reversal is not suspected before they present delayed puberty and/or primary amenorrhea. Therefore, molecular screening of WT1 gene is very important to confirm the FS diagnosis. PMID:23295293

Guaragna, Mara Sanches; Lutaif, Anna Cristina Gervásio de Britto; Bittencourt, Viviane Barros; Piveta, Cristiane Santos Cruz; Soardi, Fernanda Caroline; Castro, Luiz Claudio Gonçalves; Belangero, Vera Maria Santoro; Maciel-Guerra, Andréa Trevas; Guerra-Junior, Gil; Mello, Maricilda Palandi De

2012-11-01

224

Posterior reversible encephalopathy syndrome in a child with steroid-resistant nephrotic syndrome: a case report and review of literature  

PubMed Central

Posterior reversible encephalopathy syndrome (PRES) is a rare and serious syndrome of central nervous system that can develop in both adults and children. It is characterized by acute onset of headache, confusion, seizures or focal neurological deficits along with radiological findings of white matter abnormalities in the parietal and occipital lobes. In the past ten years, this syndrome has been described mainly in adults, rare in children. Here, we report a case of PRES presenting in a 12-year-old girl with steroid-resistant nephrotic syndrome. Her neurological symptom was rapidly recovered after control of hypertension without discontinuation of cyclosporine A. PMID:25120830

Zhang, Yu; Zhou, Jianhua; Chen, Yu

2014-01-01

225

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

PubMed Central

Objective: To study the characteristics of the haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome in the antiphospholipid syndrome (APS) and its influence on the subsequent pregnancies. Methods: This was a retrospective analysis of 16 episodes of HELLP complicating APS in 15 women. Results: HELLP was complete in 10 cases and partial in six. It occurred during the second trimester in seven cases (the earliest at 18 weeks' gestation), the third trimester in seven cases, and the day following delivery in two cases. Pre-eclampsia was present in six cases and eclampsia in five. Outcome of pregnancies was: live birth (n = 8), stillbirth (n = 2) and fetal death (n = 6). APS was primary in nine women and secondary to systemic lupus erythematosus (SLE) in six. HELLP revealed primary APS in six cases. Seven women were not treated. Low dose aspirin was empirically prescribed in one woman whose APS had been undiagnosed despite a history of two fetal deaths. In the other women, therapy consisted of aspirin (n = 8), low molecular weight heparin with a dose varying between 3000 and 12 000 U daily (n = 5), and high dose immunoglobulin every 4 weeks (n = 2), hydroxychloroquine (n = 4), and prednisone (n = 6). Six women had seven subsequent pregnancies, 3–6 years after the complicated pregnancy. HELLP recurred at 33 weeks' gestation in one woman with SLE treated with prednisone, hydroxychloroquine, aspirin, and enoxaparin, and pregnancy ended in live birth. One woman became pregnant after in vitro fertilisation and embryo transfer, but pregnancy ended in fetal death despite prednisone, hydroxychloroquine, and enoxaparin. Four women had five uneventful pregnancies with 100 mg daily aspirin and heparin. Conclusions: APS may be revealed by HELLP. In APS, HELLP is associated with pre-eclampsia/eclampsia in most cases and seems to occur earlier than in the general population. Heparin plus aspirin may prevent obstetric complications in the subsequent pregnancies. PMID:15647435

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

2005-01-01

226

A case study of Plummer-Vinson syndrome.  

PubMed

The case series presents the pattern of association of different co-morbid conditions of Plummer Vinson's Syndrome. The commonest morbidity is web at post cricoid level. The symptoms of dysphagia are more common and there appears to be a female preponderance. The presenting age us usually 5th decade. Although association with post cricoid carcinoma has been reported but only 10% of cases in the present series had carcinoma at the time of presentation. The effect of iron and B-complex supplementation has been clinically appraised and good symptomatic relief has been seen. Maybe this measure can prevent the progression to malignancy. Bouginage was effective in relieving symptoms in all the cases it was tried. PMID:23120360

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

2006-10-01

227

Marfan syndrome and symptomatic sacral cyst: Report of two cases  

PubMed Central

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

Arnold, Paul M.; Teuber, Jan

2013-01-01

228

A Case of IFAP Syndrome with Severe Atopic Dermatitis  

PubMed Central

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

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

2015-01-01

229

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. PMID:15970959

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

2005-01-01

230

Capsular block syndrome: a case report and literature review  

PubMed Central

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

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

2014-01-01

231

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

PubMed

A 76-year-old male was admitted to our hospital because of fever and erythema on the face and extremity. Skin biopsy of the erythematous lesions showed dense neutrophilic infiltrations and diagnosis of Sweet's syndrome was made. Chest computed tomography on admission revealed ground glass opacities in the right upper and lower lung fields. Bronchoalveolar lavage (BAL) showed increased lymphocytes and neutrophils. A search for bacteria, mycobacteia and fungi in BAL fluid was negative. Trans-bronchial lung biopsy revealed intraluminal organization and fibrinous exudates. Neutrophilic infiltrations were scant. These pathological findings were compatible with organizing pneumonia. Bone marrow aspiration was performed because of slight anemia and thrombocytopenia, and a diagnosis of myelodysplastic syndrome was made. Oral prednisone (PSL) of 30 mg/day induced rapid resolution of radiologic and cutaneous lesions and was tapered to 10 mg/day, then radiologic lesions worsened. Steroid pulse therapy followed by PSL 45 mg and immunosuppressive agent resulted in a resolution of his conditions. This case was rare in that organizing pneumonia was associated with Sweet's syndrome. PMID:25163580

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

2014-07-01

232

Neurological presentations of the antiphospholipid syndrome: three illustrative cases.  

PubMed

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

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

2014-06-01

233

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

PubMed

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

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

2014-01-01

234

Streptococcal toxic shock syndrome: report of two cases.  

PubMed

Two Japanese cases of streptococcal toxic shock syndrome (STSS) are reported. The first patient was a 45-year-old male who developed necrotizing fasciitis and myositis of the left thigh, refractory hypotension, hepatic dysfunction and acute renal failure; the patient died despite treatment. Streptococcus pyogenes was isolated from the inflamed fascia. The second patient was a 69-year-old female who had coagulopathy, polymyositis and hepatic function abnormality. Streptococcus pyogenes was isolated from blood culture. She was immediately placed on high-dose ampicillin as well as other supportive measures, and she survived. PMID:7496075

Kaneita, Y; Takata, C; Itobayashi, E; Miyauchi, Y; Asada, M; Irabu, N; Yoshida, S

1995-07-01

235

[De Vivo disease. GLUT-1 deficiency syndrome: a case report].  

PubMed

GLUT-1 deficiency syndrome is a rare genetic disease where the specific glucose transporter through the brain barrier is deficient. GLUT-1 deficiency causes an array of symptoms that may vary considerably from one patient to another. Signs and symptoms may include seizures, movement disorders, speech and language disorders, and developmental delays. We report a case of an infant who presented myoclonic events often occurring prior to meals, associated with developmental delay. The diagnosis was made before the discovery of hypoglycorrhachia associated with normal plasma glucose, proven biochemically by DNA analysis. Treatment with a ketogenic diet proved to be successful in controlling the epilepsy. PMID:24503455

Daoudi, S; Lounis, M; Chibout, S; Bensaadi, N; Ait-kaci-Ahmed, M

2014-03-01

236

Red ear syndrome: case report and review of the literature.  

PubMed

Red ear syndrome (RES) is characterized by the attack-like occurrence of erythema, edema and dysesthesia of one or less frequently both ears. We report the case of a 31-year-old woman with stabbing pain and marked erythema and discrete edema of one ear, existing for 4 months, occasionally accompanied by burning and local hyperhidrosis. Differential diagnoses such as perichondritis, contact dermatitis, erysipelas and other infections were ruled out. Based on her history, the clinical pattern and the unremarkable further diagnostics, we diagnosed RES. A review of the literature is included. PMID:21985901

Eismann, Regina; Gaul, Charly; Wohlrab, Johannes; Marsch, Wolfgang Christian; Fiedler, Eckhard

2011-01-01

237

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

238

Ovarian remnant syndrome: a case report and review of the literature.  

PubMed

The ovarian remnant syndrome in an unusual complication of bilateral oophorectomy, usually presenting with pelvic mass and pain. A case of the syndrome is described in a 35-year-old woman with a history of abdominal hysterectomy and bilateral oophorectomy. We suggest that ovarian remnant syndrome should be considered in the differential diagnosis of chronic pelvic pain after recorded oophorectomy. PMID:10968351

Vavilis, D; Loufopoulos, A; Agorastos, T; Vakiani, M; Intzesiloglou, L; Karavida, A; Bontis, J N

2000-01-01

239

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

PubMed Central

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

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

2014-01-01

240

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

PubMed Central

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

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

2010-01-01

241

[Turner's syndrome with pituitary hyperplasia: a case report].  

PubMed

Turner's syndrome, a sex-chromosome abnormality, is often accompanied by cardiovascular disorders, such as coarctation of the aorta. We encountered a case of Turner's syndrome with meningioma and pituitary hyperplasia which resulted in death from dissection of the aorta. The patient was 36-year-old female who was diagnosed as having Turner's syndrome of mosaic-type at the age of 15. She had accepted sex-hormone replacement with estrogen and progesterone over 20 years. She lost consciousness and was transferred to our institute on June 20th, 1992. She was in shock but her condition began to improve after intensive treatment. CT scan revealed a calcified mass lesion at the left frontal convexity and a markedly enhanced round mass lesion at the suprasellar region. Angiography showed tumor stain of the suprasellar region fed by the posterior ethmoidal artery. These tumors were diagnosed as multiple meningiomas. She developed dyspnea on June 24th and chest X-ray showed right pleural fluid collection and cardiomegaly. This condition was diagnosed as congestive heart failure. Her condition was getting worse and she suffered abrupt cardiac arrest on June 28th. Autopsy revealed dissection of the aorta as the cause of death. The tumor of the convexity was meningioma, and the suprasellar lesion was diagnosed as pituitary hyperplasia. It is well known that frequent excess dose injection of estrogen can induce pituitary adenoma or hyperplasia in rats. In this case, the presence of pituitary hyperplasia was thought to be the result of long-term injection of estrogen.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8164797

Kido, G; Miyagi, A; Shibuya, T; Miyagami, M; Tsubokawa, T; Sawada, T

1994-04-01

242

Reversible Pisa syndrome associated to subdural haematoma: case-report  

PubMed Central

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

2014-01-01

243

[A new case of food protein-induced enterocolitis syndrome].  

PubMed

We report a case of food protein-induced enterocolitis syndrome (FPIES) with milk whose signs of milk intolerance began in the 1st days of life, consisting in minor and nonspecific symptoms. The 3 foods in question were cow's milk, soja, and wheat. The diagnosis of FPIES was suspected at the age of 9 months, after 3 hospitalizations for vomiting, sometimes associated with lethargy and hypotension, which occurred around 2h after cow's milk ingestion. Symptoms were not associated with positive specific IgE and cutaneous tests. Signs then occurred with soja and wheat. Because of the late diagnosis, 3 anaphylactic shock episodes occurred. FPIES is an uncommon cell-mediated food allergy reaction. This syndrome is characterized by gastrointestinal symptoms, especially severe vomiting, sometimes associated with anaphylactic shock. Usually signs occur 2h after ingestion. These reactions begin early, in the 1st months of life, and regress by the age of 3 years in 38-100% of cases depending on the responsible food. They are usually induced by cow's milk and soy proteins. Diagnosis is difficult and delayed because of nonspecific symptoms. Oral food challenge is the only examination that confirms the diagnosis. Treatment involves the exclusion of the specific food involved. Severe reactions require treatment of shock and adjunction of corticosteroids. PMID:20346636

Chaabane, M; Bidat, E; Chevallier, B

2010-05-01

244

Conservative management of a case of tarsal tunnel syndrome  

PubMed Central

Objective: This case study was conducted to evaluate the treatment and management of a patient presenting with chronic foot pain, diagnosed as tarsal tunnel syndrome. Case: 61 year old female presenting with plantar and dorsal foot pain and burning sensation of 6 months duration. Treatment: Treatment was initiated using custom orthotics only for the first ten weeks of care as the patient did not follow up or initially respond to follow up calls placed by the practitioner. A course of high-velocity, low-amplitude adjustments using a toggle board to the cuboid and the talonavicular joint and fascial stripping was added upon report from the patient that the orthotic therapy alone did not resolve the symptoms. Improvement of pain reported on the Verbal Rating Scale was noted with a complete resolution of the condition at the conclusion of treatment. No pain was reported on a ten month follow up with the patient. Conclusion: Conservative management, including orthotics, manipulation, and fascial stripping may be beneficial in the treatment of tarsal tunnel syndrome. PMID:20520754

Hudes, Karen

2010-01-01

245

A case report of pornography addiction with dhat syndrome.  

PubMed

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

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

2014-10-01

246

Ovarian Hyperstimulation Syndrome with pleural effusion: a case report  

PubMed Central

Background To report a case of severe ovarian hyperstimulation syndrome (OHSS) with right pleural effusion following controlled ovarian hyperstimulation. Case presentation A 24-year-old woman had severe OHSS as a complication of gonadotropin stimulation. The clinical picture showed enlarged ovaries, massive ascites, pleural effusion, abdominal pain, and dyspnea. Beside the medical treatment, abdominal paracentesis for the drainage of the massive ascites and tube thoracostomy were performed, resulting in expansion of the lung. Conclusion Physicians can reduce the risk of OHSS by monitoring gonadotropin therapy and by withholding human chorionic gonadotropin medication. In in vitro fertilization protocols it can be advantageous to postpone the embryo transfer by freezing the embryos. Placement of a chest tube is a safe and efficient method for the treatment of pleural effusion. PMID:19017384

Yildizhan, Recep; Adali, Ertan; Kolusari, Ali; Kurdoglu, Mertihan; Ozgokce, Cagdas; Adali, Fulya

2008-01-01

247

A case report of pornography addiction with dhat syndrome  

PubMed Central

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

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

2014-01-01

248

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

PubMed

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

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

2013-09-01

249

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-Pińango, 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

250

Reversible posterior leukoencephalopathy syndrome in pregnancy: a case report.  

PubMed

Posterior reversible encephalopathy syndrome (PRES), is an acute, neurotoxic state. It is a very rare clinico-neuroradiological entity, and it is a complication of multiple clinical conditions. The association of PRES with toxemia in pregnancy is established. In this article, the authors discuss the case of a 22-year-old woman, gravida 1, 36-week pregnant, with extensive, bilateral white matter hypodensity, predominantly involving the parieto-occipital lobes region. These changes were highly suggestive of posterior reversible encephalopathy. This case report demonstrates that early treatment with control of blood pressure seizures can reverse this condition and also prevent progression to an irreversible damage, thus emphasizing the need for early diagnosis and treatment. PMID:24597270

Patacchiola, F; Franchi, V; Di Febbo, G; Carta, A; Carta, G

2013-01-01

251

Correction of the scimitar syndrome, a rare cardiac venous anomaly, leading to Budd–Chiari syndrome: a case report  

PubMed Central

Introduction Scimitar syndrome is a congenital heart disease characterized by an abnormal drainage of the right lung into the inferior vena cava, the right atrium or a variety of venous connections from the anomalous pulmonary vein to a systemic vein. This left-to-right shunt induces pulmonary hypertension and is an indication for surgical repair in cases of a history of recurrent pneumonia or significant left-to-right shunting. A corrective approach, which consists of rerouting the anomalous pulmonary flow to the left atrium, is usually performed. Complications of scimitar repair are stenosis, thrombosis and occlusion of the scimitar vein and its deviation. Case presentation This case report describes a 53-year-old Caucasian woman with known scimitar syndrome, undergoing surgical repair due to invaliding symptoms of dyspnoea, and presenting with postoperative Budd–Chiari syndrome due to anomalous drainage of her right hepatic vein into the left atrium. It is an interesting cause of liver pathology caused by Budd–Chiari that never has been described before. Conclusions This case report emphasizes the importance of a thorough preoperative evaluation, and the importance of antecedents in newly presenting pathology. It is an interesting cause of a known hepatic syndrome, the Budd–Chiari syndrome. This case report is of interest to many specialties, including Hepatology, Cardiology, Radiology and Cardiovascular Surgery. It exposes a new interesting anatomic variation of the scimitar syndrome with significant postoperative implications. PMID:25113120

2014-01-01

252

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

PubMed

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

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

2004-01-01

253

Non Traumatic Spinal Epidural Haematoma in a Woman with HELLP Syndrome: A Case Report  

PubMed Central

Spinal epidural haematomas (SEH) is a potentially reversible cause of spinal cord and nerve root compression which needs prompt surgical decompression for satisfactory neurological recovery. SEH occurs very rarely in pregnant woman with HELLP syndrome (hemolysis, elevated liver enzyme levels, and low platelet levels). Most of the SEH cases reported in HELLP syndrome in the literature are due to iatrogenic interventions. We report a still rarer case of non traumatic spinal epidural haematoma in a pregnant woman with HELLP Syndrome. PMID:25654010

Bansal, Juhi; Gupta, Amit; Goyal, Alka

2014-01-01

254

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

255

POEMS syndrome: a rare case of monoclonal plasmaproliferative disorder.  

PubMed

POEMS syndrome is defined by the presence of a peripheral neuropathy (P), a monoclonal plasma cell disorder (M), and other paraneoplastic features, the most common of which include organomegaly (O), endocrinopathy (E), skin changes (S). Not all features of the disease are required to make the diagnosis. We report a case of POEMS syndrome in a 50-year-old female who presented with weakness, abdominal swelling and history of red cell transfusions. Because of the hepatosplenomegaly (Schuffner VII) we diagnosed her as chronic myelocytic leukemia (CML) or myelofibrosis. Her peripheral blood smear did not show granulopoiesis maturation from myeloblast nor leukoerytroblastic feature which was characteristic of CML and myelofibrosis. We found also anemia, peripheral motoric neuropathy and hyperpigmentation at her legs. The protein electrophoresis showed monoclonal gammopathy on b2 globulin. Bone marrow examination showed normal plasma cells. There was no lytic or sclerotic lesion on Schedel and tibia x-ray. The echocardiography showed pulmonary hypertension, pulmonary regurgitation, right and left ventricle hypertrophy with normal ejection fraction (50%). She was treated with melphalan 10 mg/m2 (day 1-4) and prednisone 60 mg/m2 (day 1-4) every 6 weeks with packed red cells transfusion. After 3 cycles the monoclonal protein was reduced from 35.5% to 26.1% (normal 2-5%) without changes in her spleen size. Until then she continued on melphalan and prednisone treatment. Although POEMS syndrome is a rare disease, it should be considered in patient with hepatosplenomegaly, especially if accompanied by peripheral neuropathy. PMID:20513935

Oehadian, Amaylia; Prasetya, Dimmy; Fadjari, Trinugroho H

2010-04-01

256

Painful rib syndrome--a review of 76 cases.  

PubMed Central

The painful rib syndrome consists of three features: pain in the lower chest or upper abdomen, a tender spot on the costal margin, and reproduction of the pain on pressing the tender spot. This is a common cause for referral to a general medical/gastroenterology clinic, accounting for 3% of new referrals in Lincoln. Seventy six consecutive patients were studied. The mean age was 48 years and 70% were women. Forty three per cent had been investigated, often extensively, before referral, and eight had had a non-curative cholecystectomy. The case notes from all patients were reviewed and a follow up questionnaire was sent after a mean period of four years to those 72 still alive, of which 56 replied. Thirty nine (70%) still had the pain although all except three had learnt to live with it. Despite a firm diagnosis being given, 25 (33%) patients were referred again to hospital by their general practitioner. All further investigations were negative apart from the finding of gall stones in three patients. The four patients who died had died from unrelated causes. The painful rib syndrome is common but underdiagnosed. It is a safe, clinical diagnosis requiring no investigation. Systematic firm palpation of the costal margin in recommended in all patients presenting with pain in the lower chest or upper abdomen. PMID:8344569

Scott, E M; Scott, B B

1993-01-01

257

Fat Embolism Syndrome After Femur Fracture Fixation: a Case Report  

PubMed Central

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

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

2014-01-01

258

Familial Ectrodactyly Syndrome in a Nigerian Child: A Case Report  

PubMed Central

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

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

2011-01-01

259

Klinefelter's syndrome associated with progressive systemic sclerosis: Report of a case and review of the literature  

Microsoft Academic Search

Summary A case of Klinefelter's syndrome associated with progressive systemic sclerosis (PSS) is described. The patient had been infertile for 20 years after marriage and was diagnosed as PSS with Klinefelter's syndrome at the age of 43. In reviewing the literature, we observed that five cases with PSS within the range of 41 to 61 years of age, and seventeen

S. Kobayashi; T. Shimamoto; O. Taniguchi; H. Hashimoto; S. Hirose

1991-01-01

260

[Trisomy 18 or Edwards' syndrome. A report of 4 clinical cases].  

PubMed

The paper describes four cases of trisomy 18 or Edwards' syndrome observed in the Pediatric Division of SS. Annunziata Hospital, Savigliano (CN) between 1/1/79 and 31/12/88. Following an illustrated description of the cases (3 males and 1 female), the epidemiological and clinical aspects of the syndrome are briefly discussed. PMID:1870543

Giaccardi, A; Sardi, R; Priora, U; Vivalda, M; Domeneghetti, G; Girone, P

1991-04-01

261

An atypical case of neuroleptic malignant syndrome precipitated by valproate.  

PubMed

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

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

2014-01-01

262

[Evaluation of ear acupressure on painful shoulder syndrome: case study].  

PubMed

The Painful Shoulder Syndrome (PSS) is defined as pain and functional limitation resulting from impairment of static and dynamic structures of the shoulder, such as ligaments, capsule and muscles. It is one of the most common and disabling of the musculoskeletal system in the general population with prevalence estimated between 15-25%. This study aimed to evaluate the results of auricular acupressure when used as therapy in the treatment of chronic pain secondary to SOD, and the analgesic effect and therapeutic satisfactory and the estimated time of treatment. To obtain the objective was to perform a case study was to intervene with auricular acupressure beads and crystals as an indicator of the outcome questionnaire Penn Shoulder Score (PSS - Brazil). Data were analyzed qualitatively and quantitatively. We conclude that auriculotherapy is an important therapeutic technique, because the study showed an improvement in the total score of the PSS - Brazil at 34.3%. PMID:24217753

Zanelatto, Ana Paula

2013-01-01

263

Christ-siemens-touraine syndrome: case report of 2 brothers.  

PubMed

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

Vora, Rita V; Anjaneyan, Gopikrishnan; Chaudhari, Arvind; Pilani, Abhishek P

2014-10-01

264

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

PubMed

We present a case of a 67-year-old man who was an active smoker, with a clinical history of ischaemic cardiopathy, hypertension, who presented to the emergency room with hoarseness of voice of 2 weeks duration. No other neurological or cardiorespiratory symptoms were found. Physical examination revealed an aortic regurgitation murmur with radial pulse difference between the upper limbs and femoral pulse difference on lower limbs. Laryngoscopy examination revealed a left vocal cord paralysis in the paramedian position, without signs of malignancy. Thoracoabdominal CT angiography was performed to rule out an aortic dissection. CT revealed a dissection in the descending thoracic aortic arch and abdominal aorta. Cardiovascular surgery was consulted and decided to place endoprosthesis at the thoracic and abdominal aortic area. Hoarseness eventually resolved during the following weeks. Ortner's syndrome is described as hoarseness of voice caused by compression of the left recurrent laryngeal nerve of cardiovascular origin. PMID:25035442

Hurtarte Sandoval, A R; Carlos Zamora, R; Gómez Carrasco, J M; Jurado Ramos, A

2014-01-01

265

AAEM case report #25: anterior interosseous nerve syndrome.  

PubMed

A case study is reported regarding a 57-year-old woman, chose chief complaint was weakness in her thumb that she had noted while gardening. The patient described difficulty pulling weeds out because of an inability to get a firm grip when using the thumb. Physical examination showed weakness of the flexor pollicis longus and flexor digitorum profundus to the index finger. There was no other weakness and no clinical sensory deficit. Electrodiagnostic studies revealed normal median motor and sensory nerve conduction studies with needle examination abnormalities noted only in the flexor pollicis longus, flexor digitorum profundus, and pronator quadratus. The literature on anterior interosseous nerve syndrome (AINS) is reviewed. It is important to differentiate those with idiopathic AINS as part of a neuralgic amyotrophy picture from those with an anatomic cause such as a fibrous band or anomalous muscle. Electrodiagnostic examination can be useful to help make this distinction. PMID:1518518

Wertsch, J J

1992-09-01

266

Sensory Guillain-Barré syndrome: A case report  

PubMed Central

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

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

2014-01-01

267

Sensory Guillain-Barré syndrome: A case report.  

PubMed

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

Zhang, Jing; Liu, Na; Zhang, Zhe-Cheng; Zheng, Rui-Zhi; Li, Qian

2014-12-01

268

[Latent long QT syndrome: discription of a clinical case].  

PubMed

Latent forms of long QT syndrome have been already reported. We describe one case of a 27 years old female patient who experienced an episode of cardiac arrest after several puffs of salbutamole. The malignant arrhythmia causing the cardiac arrest was torsade de pointes degenerated into ventricular fibrillation. The patient ECG showed a normal QTc basal interval and the correct diagnosis was made by contemporary recording of the ECG and MAP during orciprenalina infusion. After drug infusion, we have recorded a MAP lengthening and a dispersion of MAP duration between the right ventricular apex and the right ventricular outflow tract. These modifications were concomitant with the appearance of "humps" (probably related to the presence of early afterdepolarizations), a QT interval lengthening and morphologic changes of the T and U waves. PMID:9244742

Castro, A; Pandozi, C; Bianconi, L; Toscano, S; Santini, M

1997-04-01

269

Clozapine-Induced Rabbit Syndrome: A Case Report  

PubMed Central

Rabbit syndrome (RS) is an antipsychotic-induced rhythmic motion of the mouth/lips resembling the chewing movements of a rabbit. The movement consists of a vertical-only motion, at about 5 Hz, with no involvement of the tongue. Long-term exposure to typical antipsychotics has clearly been associated with RS, but little is known of the risk of RS due to exposure to newer atypical antipsychotics. There have been isolated reports of RS in patients treated with the atypical agents risperidone, aripiprazole, olanzapine, and clozapine. We present the case history of a 44-year old female patient treated for paranoid schizophrenia for 22 years and RS during her last 10-month clozapine treatment. Background information from the literature is also discussed. PMID:25478081

2009-01-01

270

Naturalistic Intervention for Asperger Syndrome: A Case Study  

ERIC Educational Resources Information Center

On the basis of their cognitive abilities, children with Asperger syndrome are attractive candidates for inclusive education and, in Australia, most are in integrated settings. However, social interaction between children with Asperger syndrome and their peers remains problematic, with the children with Asperger syndrome often being left alone…

Choi, Serene Hyun-Jin; Nieminen, Timo A.

2008-01-01

271

Embryo with XYY syndrome presenting with clubfoot: a case report  

Microsoft Academic Search

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

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

2009-01-01

272

A case of paraneoplastic nephrotic syndrome in a patient with ovarian carcinoma.  

PubMed

Nephrotic syndrome is a rare manifestation of malignancy associated with paraneoplastic syndrome. Paraneoplastic nephrotic syndrome has been reported in various malignancies: malignant lymphoma, colon cancer, lung cancer and prostate cancer. However, an ovarian carcinoma associated with nephrotic syndrome has rarely been reported. Only six cases of ovarian carcinoma associated paraneoplastic nephrotic syndrome has been reported worldwide, but no cases have been reported in Korea. Here, we report a case of paraneoplastic nephrotic syndrome in a patient with an ovarian carcinoma. The patient presented with ascites, proteinuria and hypoalbuminemia. An initial computed tomography (CT) scan and ultrasonography evaluations showed no specific findings suggestive of an ovarian tumor. Despite treatment for nephrotic syndrome, the symptoms became more aggravated. There after, follow up evaluation at Yonsei University Medical Center, including serum CA 125, pelvis MRI and peritoneal fluid examination were performed. On the pelvis MRI, a left ovarian mass was detected with an ascitic fluid collection. The serum CA 125 level was elevated to 2211 U/ml. The peritoneal fluid cytological examination showed malignant cells suggestive of an ovarian carcinoma. Combination chemotherapies including paclitaxel plus carboplatin, topotecan plus gemcitabine and oxaliplatin plus capecitabine were administered to the patient, and complete remission was achieved on image and tumor marker studies. There was complete recovery from the nephrotic syndrome with no evidence of ascites and proteinuria. These findings suggest that nephrotic syndrome caused by paraneoplastic syndrome can be resolved only after the complete control of the underlying malignancy. PMID:12833596

Kim, Yong Tai; Rha, Sun Young; Shim, Chi Young; Sohn, Joo Hyuk; Kim, Chul; Yu, Nae Choon; Chung, Hyun Cheol; Kim, Joo Hang; Han, Dae Suk; Kim, Byung Soo; Roh, Jae Kyung

2003-06-30

273

A case of plummer-vinson syndrome associated with Crohn's disease.  

PubMed

Plummer-Vinson syndrome manifests as cervical dysphagia, iron deficiency anemia, an upper esophageal web, and atrophic glossitis. The cause of the esophageal web is thought to be iron deficiency anemia; however, the cause of Plummer-Vinson syndrome has not been established. Crohn's disease is usually accompanied by malnutrition and iron deficiency anemia; however, no case of concomitant Crohn's disease and Plummer-Vinson syndrome with aggravated malnutrition and anemia has been previously reported. Here, we report on a rare case of Plummer-Vinson syndrome in a Crohn's disease patient, which caused malnutrition and constipation. PMID:24755750

Park, Joon Mo; Kim, Kyeong Ok; Park, Chan Seo; Jang, Byung Ik

2014-04-01

274

Modeling to Predict Cases of Hantavirus Pulmonary Syndrome in Chile  

PubMed Central

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

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

2014-01-01

275

Chikungunya virus infection amongst the acute encephalitis syndrome cases in West Bengal, India.  

PubMed

Chikungunya virus (CHIKV) infection from the acute encephalitis syndrome cases is an uncommon form and has been observed in the year 2010-11 from West Bengal, India. The case-1 and case-2 had the acute encephalitis syndrome; case-3 was of acute disseminated encephalomyelitis whereas the case-4 had the symptoms of meningo-encephalopathy with bulbar involvement. We are reporting four cases with neurological complications involving central nervous system (CNS) due to CHIKV infection from this state for the first time. The virus has spread almost every districts of this state rapidly. At this stage, these cases are public health threat. PMID:25657139

Taraphdar, D; Roy, B K; Chatterjee, S

2015-02-01

276

[Sharp syndrome complicating pulmonary tuberculosis: apropos of a case].  

PubMed

This study concerns a case-report about a 28 year old Senegalese woman suffering from a SHARP syndrome complicated by a bilateral bacillary pulmonary tuberculosis. The prevalence of this disease is underestimated but a female predominance is often reported. The mechanisms of this disease strongly depends upon the context in with it occurs. The diagnostic has been established by the ALARCON SEGOVIA criteria including clinical symptoms (Raynaud phenomenon, puffy fingers and myalgia) and biological features such as high positive immunofluorescent reactivity revealing the presence of anti RNP antibody at a level superior to 1/1000. The subsequent development figure of the disease emphasizes: persistence of polymyositis pattern revealed by higher limbs localized myalgia involving the thighs and symptoms of lupus including alopecia and glomerulonephritis remaining of the mixed characteristic comparable to the cases published in the literature. appearance of a bilateral bacillary pulmonary tuberculosis with a severe involvement of the right lung. The treatment composed by anti inflammatory and antituberculosis drugs lead to an early improvement of the clinical symptoms associated to a rapid cleaning of radiological manifestations. Sequelae were represented by cavities detected in the right lung and related to the pharmacological effects of corticosteroid drugs. PMID:11957293

Ndiaye, M; Hane, A A; Dieng, M T; Ndir, M; Ba, O; Cissokho, S; Kandji, M; Diatta, A; Niang, A; Ndiaye, B

1999-01-01

277

[A case of tethered cord syndrome in an elderly man].  

PubMed

A 71-year-old man had been under treatment for nocturia with an anti-cholinergic agent at a urologic clinic for the last 2 years. Because the symptoms did not improve, he was referred to our hospital for treatment of urinary retention. Based on the findings of a neurological examination, we suspected the presence of a neurogenic bladder due to sacral lesions. Moreover, magnetic resonance imaging indicated tethered cord syndrome (TCS) due to spinal cord lipoma. He underwent surgical treatment for TCS, which improved storage function, but not voiding function. Generally speaking, we believe that early diagnosis of TCS facilitates early surgery that can prevent the development of neurogenic disorders. In the present case, if the neurological findings had been appropriately assessed and cystometry/urodynamic studies had been performed at an earlier stage, a prompt diagnosis could have been made and surgery could have been performed earlier as well. Although adult cases with TCS are rarely observed, TCS should be considered as one of the causes of intractable lower urinary tract symptoms. PMID:24882232

Morizawa, Yosuke; Torimoto, Kazumasa; Hori, Shunta; Kiba, Keisuke; Shinohara, Masatake; Hirayama, Akihide; Fujimoto, Kiyohide

2014-04-01

278

Lance-Adams syndrome: a report of two cases*  

PubMed Central

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

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

2007-01-01

279

Systemic capillary leak syndrome under general anesthesia: a case report.  

PubMed

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

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

2014-06-01

280

Multiple Aortic Operations in Loeys-Dietz Syndrome: Report of 2 Cases  

PubMed Central

Due to its low prevalence and because there is lack of awareness about it, Loeys-Dietz syndrome is often mis-diagnosed as Marfan syndrome, which has similar skeletal abnormalities and aortic pathology. However, the differential diagnosis between these two connective tissue diseases is critical because they correspond to different surgical indications and surgical decision-making. We report two cases of successful thoracoabdominal aortic replacement in patients with previously undiagnosed Loeys-Dietz syndrome. PMID:25551076

Na, Kwon Joong; Park, Kay-Hyun

2014-01-01

281

Multiple aortic operations in loeys-dietz syndrome: report of 2 cases.  

PubMed

Due to its low prevalence and because there is lack of awareness about it, Loeys-Dietz syndrome is often mis-diagnosed as Marfan syndrome, which has similar skeletal abnormalities and aortic pathology. However, the differential diagnosis between these two connective tissue diseases is critical because they correspond to different surgical indications and surgical decision-making. We report two cases of successful thoracoabdominal aortic replacement in patients with previously undiagnosed Loeys-Dietz syndrome. PMID:25551076

Na, Kwon Joong; Park, Kay-Hyun

2014-12-01

282

Heerfordt's Syndrome Presenting with Recurrent Facial Nerve Palsy: Case report and 10-year literature review.  

PubMed

Heerfordt's syndrome is defined as a combination of facial palsy, parotid swelling, uveitis and fever in sarcoidosis cases. Heerfordt's syndrome as a cause of facial palsy is very rare. We report a case of alternating facial nerve palsy in a 52-year-old female initially treated for Bell's palsy. The patient was referred to the All India Institute of Medical Sciences, Bhubaneswar, India, in January 2013 for clinical evaluation. She was found to have a parotid swelling and anterior intermediate uveitis. A pathoradiological evaluation suggested sarcoidosis and a final diagnosis of Heerfordt's syndrome was made. Steroid treatment was initiated which led to an improvement in the facial palsy and uveitis as well as the disappearance of the parotid swelling with a corresponding decrease in angiotensin-converting enzyme levels. An English literature review was carried out to analyse the varied presentation of this syndrome. The analysis focused on presenting symptoms, biochemical markers and radiological findings of Heerfordt's syndrome cases. PMID:25685372

Chappity, Preetam; Kumar, Rajeev; Sahoo, Anjan K

2015-02-01

283

Discovery of a case of Waugh's syndrome during a mission to Haiti  

PubMed Central

Introduction A rarely reported entity, Waugh's syndrome is the association between intestinal malrotation and intussusception. We present a case of Waugh's syndrome encountered during a medical mission to a resource poor country. Presentation of case A 3-month-old female presented with septic shock and acute bowel obstruction secondary to intussusception and malrotation. She required aggressive resuscitation and emergent laparotomy, bowel resection, Ladd procedure and temporary ileostomy. Discussion First described in 1911, Waugh's syndrome has been rarely reported in the literature. We summarize a total of 54 cases of Waugh's syndrome that are reported in the literature to date. The complicated but successful care of this patient reflects the severe outcome of any inadequate treatment of Waugh's syndrome and illustrates the importance of medical volunteers in developing countries. Conclusion As the relationship between malrotation and intussusception may be more frequent than recorded, surgeons must be aware that non-operative management of intussusception may be inadequate therapy. PMID:22288034

Baltazar, Gerard; Sahyoun, Cyril; Sime, Jacklin; Bitar, Marlon; Bitar, Jerry; Rao, A.C.

2011-01-01

284

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

PubMed

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

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

2014-01-01

285

Postoperative Horner's syndrome after video-assisted thyroidectomy: a report of two cases.  

PubMed

Horner's syndrome is a rare complication after video-assisted thyroidectomy (VAT). We present two cases of thyroid microcarcinoma who presented with Horner's syndrome on day 2 after surgery. Ultrasonography showed no hematoma or fluid collection in the surgical field. For the first case, the symptoms were much relieved 4 months later. However, the right pupil remained smaller. For the second case, the symptoms were relieved 3 days later. The symptoms were caused by local trauma to the sympathetic chain and likely occurred during retraction of the carotid sheath. Surgeons should be aware of the possibility of Horner's syndrome after VAT. PMID:24378178

Ying, Xin; Dandan, Guan; Bin, Chen

2013-01-01

286

Postoperative Horner’s syndrome after video-assisted thyroidectomy: a report of two cases  

PubMed Central

Horner’s syndrome is a rare complication after video-assisted thyroidectomy (VAT). We present two cases of thyroid microcarcinoma who presented with Horner’s syndrome on day 2 after surgery. Ultrasonography showed no hematoma or fluid collection in the surgical field. For the first case, the symptoms were much relieved 4 months later. However, the right pupil remained smaller. For the second case, the symptoms were relieved 3 days later. The symptoms were caused by local trauma to the sympathetic chain and likely occurred during retraction of the carotid sheath. Surgeons should be aware of the possibility of Horner’s syndrome after VAT. PMID:24378178

2013-01-01

287

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. PMID:23365778

Zetti, Giorgio; Galli, Fausto; Cortese, Ferdinando

2013-01-01

288

Mesenteric vein thrombosis associated with Klinefelters syndrome--a case report.  

PubMed

A case of mesenteric vein thrombosis presenting as gastrointestinal hemorrhage in a patient with Klinefelter's syndrome is reported, an association not previously described. The diagnosis was made preoperatively and was confirmed by angiography. The patient underwent a small bowel resection and made an uneventful recovery. A possible association between Klinefelter's syndrome and a hypercoagulable state, previously suggested elsewhere, is emphasized. PMID:3257659

Murray, F E

1988-01-01

289

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 PMID:6824623

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

1983-01-01

290

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

ERIC Educational Resources Information Center

The literature on grammatical skills in persons with Cri du chat syndrome (CCS) is very limited, and the need for more knowledge in this area is thus evident, in particular for speech and language therapists working with individuals with this syndrome. This case study report describes the syntactic skills of a 14-year-old Norwegian girl with CCS.…

Kristoffersen, Kristian Emil

2009-01-01

291

A case of Takayasu disease with findings of incomplete Alagille syndrome  

Microsoft Academic Search

A 16-year-old girl being followed up for Takayasu arteritis for the last 3 years was also found to have Alagille syndrome upon findings of atypical facies, posterior embryotoxon, high-pitched voice, osteopenia and hypogonadism. This case might imply a possible relationship between Takayasu arteritis and Alagille syndrome.

Salih Kavukçu; Korcan Demir; Alper Soylu; Özden Anal; Osman Saatçi; Yi?it Göktay

2005-01-01

292

Neuropsychological profile of an asperger's syndrome case with exceptional calculating ability  

Microsoft Academic Search

Some mental retardates and Asperger's syndrome patients demonstrate a single exceptional talent, often musical or calculating ability, in the context of otherwise pervasive intellectual and social\\/interpersonal disability. Neuropsychological assessment of such individuals can shed light on the cognitive substrates for these unusual patterns of ability. This paper presents a neuropsychological case study of an Asperger's syndrome patient with remarkable mathematical

Denise E. Stevens; Terrie E. Moffitt

1988-01-01

293

Case report, aetiology, and treatment of an acquired long-QT syndrome.  

PubMed

Acquired long-QT syndrome is an iatrogenic disorder, usually induced by drugs, which can cause life-threatening arrhythmias. We present a case report on an acquired long-QT syndrome with an interesting confluence of circumstances, and comment on aetiology and treatment. PMID:24724757

Van Asbroeck, P J; Huybrechts, W; De Soir, R

2014-04-01

294

Rare Association of Sensorimotor Polyneuropathy and Klinefelter Syndrome (47,XXY): Case Report  

Microsoft Academic Search

Objectives: To describe a case with the rare association of Klinefelter syndrome (47,XXY) and peripheral sensorimotor polyneuropathy. Clinical Presentation and Intervention: A 50-year-old man with Klinefelter syndrome was referred to our neurology clinic complaining of pain, numbness and tingles in both legs, which began 10 years prior to admission. Two years before admission, the patient had difficulty in walking with

E. Kararizou; A. F. Mentis; K. Gkiatas; P. Davaki

2011-01-01

295

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

296

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

Microsoft Academic Search

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.

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

1983-01-01

297

Hemorrhagic Fever with Renal Syndrome Complicated with Pregnancy: A Case Report  

PubMed Central

Hantaviruses cause two forms of human disease: hemorrhagic fever with renal syndrome (HFRS) and hantavirus pulmonary syndrome. Hantavirus infection can occur in pregnant women and it can have an influence on the maternal and fetal outcomes, although this is a rare finding even in endemic areas. We describe here a recent case of HFRS complicating pregnancy. PMID:16913449

Choi, Byung-Don

2006-01-01

298

Fuchs' syndrome (stevens-johnson syndrome without skin involvement) in an adult male - a case report and general characteristics of the sporadically diagnosed disease.  

PubMed

Fuchs' syndrome (Stevens-Johnson syndrome without skin involvement) is a sporadically diagnosed disease. Most authors consider it to be a pure mucosal variant of Stevens-Johnson syndrome; however, some consider the syndrome a separate entity. The complete absence of cutaneous symptoms may be the reason that not all cases of Fuchs' syndrome are diagnosed and properly classified. The authors describe a case of a 22-year-old patient suffering only from mucosal symptoms, diagnosed as Fuchs' syndrome from the context of the tests performed. A Mycoplasma pneumoniae infection triggered the disease onset. Mycoplasma infection, as a trigger factor of Fuchs' syndrome in adults, has so far been described in only a few isolated cases worldwide. PMID:25580788

Šternberský, Jan; Tichý, Martin

2014-12-01

299

Horner's syndrome after paediatric cardiac surgery: case report and review of the literature.  

PubMed

Iatrogenic Horner's syndrome is a rare complication that can occur after trauma, cervical central line insertion, chest tube insertion, and rarely following adult thoracic and neck surgery, especially in high risk patients with hypertension and diabetes. The majority of cases reported in the literature describe non-iatrogenic Horner's syndrome in adults as an unusual presentation for cervical tumours or apical lung carcinoma. In children, there are some reports describing acquired Horner's syndrome following trauma or invasive intervention near the cervical-thoracic area. Less has been written about the incidence of Horner's syndrome following paediatric cardiac surgery. PMID:24717921

Nasser, Bana A; Mesned, Abdulrahman; Moazamy, Yousry E; Kabbani, Mohamed S

2015-03-01

300

Tirofiban in Takotsubo cardiomyopathy. Atypical broken heart syndrome with extremely fast recovery: a case report.  

PubMed

Takotsubo cardiomyopathy, also known as broken heart syndrome, is similar to acute coronary syndrome. The absence of significant stenosis on coronary angiography and spontaneous improvement of ventricular akinesia are very important features that distinguish this syndrome from acute coronary syndromes. Despite the fact that ST segment elevations are typically encountered, atypical presentation without ECG changes should be kept in mind. We herein report the case of a 61-year-old woman who presented with mid-apical left ventricular akinesia resolving within 24 h. PMID:22930391

Akpinar, I; Salihoglu, Y S; Sayin, M R; Elri, T; Karabag, T; Dogan, S M; Aydin, M

2013-02-01

301

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

PubMed

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

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

2014-04-01

302

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

2012-10-01

303

Cotard's syndrome: Two case reports and a brief review of literature  

PubMed Central

Cotard's syndrome is a rare neuropsychiatric condition in which the patient denies existence of one's own body to the extent of delusions of immortality. One of the consequences of Cotard's syndrome is self-starvation because of negation of existence of self. Although Cotard's syndrome has been reported to be associated with various organic conditions and other forms of psychopathology, it is less often reported to be seen in patients with catatonia. In this report we present two cases of Cotard's syndrome, both of whom had associated self-starvation and nutritional deficiencies and one of whom had associated catatonia. PMID:25540544

Grover, Sandeep; Aneja, Jitender; Mahajan, Sonali; Varma, Sannidhya

2014-01-01

304

Systemic capillary leak syndrome associated with a rare abdominal and four-limb compartment syndrome: a case report  

PubMed Central

Introduction Systemic capillary leak syndrome is a rare and life threatening disease characterized by periodic episodes of hypovolemic shock due to leakage of plasma from the intravascular to the extravascular space. It is associated with hemoconcentration, hypoalbuminemia, and generalized edema. We report the case of a patient with idiopathic systemic capillary leak syndrome who developed an unexpected and potentially fatal abdominal and four-limb compartment syndrome. This was successfully treated with fasciotomies and medical treatment including terbutaline, theophylline, and corticosteroids. To the best of our knowledge this is the first report of this kind in the literature. Case presentation A previously healthy 54-year-old Caucasian man presented to the emergency department of our internal medicine ward with a medical history of aggravation of general health related to dizziness, weight gain, and two syncopal attacks. Due to a massive emission of fluids and proteins from the intravascular to the extracellular compartments, he developed compartment syndromes in his upper and lower limbs and the abdominal compartment. The abdomen and all four limbs required decompression by a fasciotomy of both forearms, both thighs, both lower legs, and the abdomen within 24 hours after admission. After 60 days of treatment he was dismissed from the clinic. He was able to return to his previous occupation and reached the same level of athletic activity as before the illness. Conclusions Systemic capillary leak syndrome is a very rare disease that can lead to a fatal clinical outcome. It is important to be aware of the fatal complications that can be caused by this disease. Despite the fact that systemic capillary leak syndrome represents a very rare disease it is still important to be aware of life threatening complications, like compartment syndromes, which need surgical intervention. However, early diagnosis and interdisciplinary treatment can lead to a good clinical outcome. PMID:24934689

2014-01-01

305

Short rib-polydactyly syndrome: a case report.  

PubMed

Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized by short ribs and limbs, polydactyly, hypoplastic thorax and visceral anomalies. Our case had coarsening of facial features, low-set ears, lobulated tongue, cleft palate, and hypoplastic epiglottis. Short proximal parts of upper limbs, bilateral postaxial polydactyly of hands, and bifid big toe with zygodactyly were additional findings. Chest was narrow. Ambiguous genitalia was noted but testicles were in scrotum. Choroid plexus cyst and coarctation of aorta were found in autopsy. Radiographies of the skull revealed occipital horn accompanied by prominent external occipital protuberance. The thoracic cage was narrow and elongated with short and iliac wings, pubic and ischial rami were were hypoplastic, and both acetabula were shallow and trident shaped. All tubular bones had wide and rounded metaphyses. Because clinical and radiological features of the four established subtypes are very similar, there are difficulties in the classification. We report an infant whose radiological, clinical and postmortem features were consistent with type IV SRPS (Beemer-Langer). PMID:14768808

Türkmen, Münevver; Temoçin, Kübra; Acar, Ca?lar; Levi, Edi; Karaman, Can; Inan, Gülten; Elçio?lu, Nursel

2003-01-01

306

Prune belly syndrome, splenic torsion, and malrotation: a case report.  

PubMed

An 18 year old male with a history of prune belly syndrome (PBS) presented with acute abdominal pain and palpable left upper quadrant mass. Computed tomography (CT) of the abdomen revealed a medialized spleen with a "whirl sign" in the splenic vessels, consistent with splenic torsion. Coincidentally, the small bowel was also noted to be on the right side of the abdomen, while the colon was located on the left, indicative of malrotation. Emergent diagnostic laparoscopy confirmed splenic torsion and intestinal malrotation. Successful laparoscopic reduction of the splenic torsion was achieved, however, conversion to an open procedure by a vertical midline incision was necessary owing to the patient's unique anatomy. Open splenopexy with a mesh sling and Ladd's procedure were subsequently performed. Malrotation and wandering spleen are known, rare associated anomalies in PBS; however, both have not been reported concurrently in a patient with PBS in the literature. In patients with PBS, acute abdominal pain, and an abdominal mass, high clinical suspicion for gastrointestinal malformations and prompt attention can result in spleen preservation and appropriate malrotation management. We present a case of a teenager who presented with a history of PBS, acute abdominal pain, and a palpable abdominal mass. The patient was found to have splenic torsion and intestinal malrotation. The clinical findings, diagnostic imaging, and surgical treatment options of splenic torsion are reviewed. PMID:23414901

Tran, Sifrance; Grossman, Eric; Barsness, Katherine A

2013-02-01

307

Plummer-Vinson syndrome. A case report and literature review.  

PubMed

The Plummer-Vinson syndrome is characterized by dysphagia, iron-deficiency anemia, and esophageal webs. The webs are best diagnosed by cineradiography. Iron repletion often improves the dysphagia, although some patients require esophageal dilatation or bougienage. The syndrome is associated with an increased incidence of postcricoid carcinoma, and surveillance endoscopy is recommended. PMID:7575056

Hoffman, R M; Jaffe, P E

1995-10-01

308

Plummer-Vinson syndrome: a report of three cases.  

PubMed

Plummer-Vinson syndrome is characterised by dysphagia, anaemia, glossitis and oesophageal web. We report our findings in three patients with membranes in the upper oesophagus. All patients underwent endoscopic dilatation and iron replacement therapy, with good results. We review the literature of this syndrome. PMID:14529074

Yukselen, V; Karaoglu, A O; Yasa, M H

2003-09-01

309

Descriptive analyses of Turner syndrome: 49 cases in Tunisia  

Microsoft Academic Search

Turner syndrome is linked to the absence or abnormality of one of the X chromosome leading to haplo-insufficiency of genes involved in the development and maintenance of the ovarian stock in women. We report the results of a 21-year retrospective study, conducted in 49 patients with Turner syndrome. The purpose of this study was to establish the clinical, hormonal, cytogenetic and

M. Elleuch; M. Mnif Feki; M. Kammoun; N. Charfi; N. Rekik; A. Bouraoui; T. Kammoun; N. Belguith; H. Kammoun; M. T. Sfar; M. Hachicha; M. Abid

2010-01-01

310

A new variant of Vohwinkel syndrome: a case report.  

PubMed

Vohwinkel syndrome (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and deafness. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Here we report a mutilating and focal palmoplantar keratoderma in two siblings with congenital hypotrichosis and probably autosomal recessive inheritance that appears to be a new variant of Vohwinkel syndrome. PMID:21426869

Seirafi, Hassan; Khezri, Somayeh; Morowati, Saeid; Kamyabhesari, Kambiz; Mirzaeipour, Mehdi; Khezri, Farzaneh

2011-01-01

311

Abernethy syndrome, a rare cause of hypoxemia: A case report  

PubMed Central

Abernethy syndrome (congenital extrahepatic portosystemic shunt (CEPS II)) as an etiology of hepatopulmonary syndrome (HPS) is uncommon. The severe hypoxemia and its consequences become incapacitating for the patient. Early shunt closure resolves hypoxemia and clinical symptomatology and prevents irreversible changes in pulmonary vasculature. PMID:25684892

Sahu, Manoj Kumar; Bisoi, Akshay Kumar; Chander, Naveen Chandrasekaran; Agarwala, Sandeep; Chauhan, Sandeep

2015-01-01

312

Lemierre syndrome with thrombosis of sigmoid sinus following dental extraction: a case report  

PubMed Central

Lemierre syndrome is caused by an infection in the oropharyngeal region with subsequent thrombophlebitis in the internal jugular vein. The thrombus from the thrombophlebitis can invade other vital organs, such as liver, lungs, or joints, resulting in secondary infection, which further exacerbates the fatal prognosis of this syndrome. Lemierre syndrome, also called postanginal sepsis or necrobacillosis, was first reported by Dr. Lemierre in 1936. In his report, Lemierre mentioned that out of 20 patients who suffered from this syndrome, only two survived. He also stated that all of the 20 patients complained of infections in the palatine tonsils and developed sepsis and thrombophlebitis in the internal jugular vein. Once called a "forgotten disease," this syndrome showed a very high mortality rate until usage of antibiotics became prevalent. In this case report, the authors present a 71-year-old female patient who suffered from Lemierre syndrome with thrombosis extended to the right sigmoid sinus. PMID:24471023

Kim, Taeyun

2013-01-01

313

Lemierre syndrome with thrombosis of sigmoid sinus following dental extraction: a case report.  

PubMed

Lemierre syndrome is caused by an infection in the oropharyngeal region with subsequent thrombophlebitis in the internal jugular vein. The thrombus from the thrombophlebitis can invade other vital organs, such as liver, lungs, or joints, resulting in secondary infection, which further exacerbates the fatal prognosis of this syndrome. Lemierre syndrome, also called postanginal sepsis or necrobacillosis, was first reported by Dr. Lemierre in 1936. In his report, Lemierre mentioned that out of 20 patients who suffered from this syndrome, only two survived. He also stated that all of the 20 patients complained of infections in the palatine tonsils and developed sepsis and thrombophlebitis in the internal jugular vein. Once called a "forgotten disease," this syndrome showed a very high mortality rate until usage of antibiotics became prevalent. In this case report, the authors present a 71-year-old female patient who suffered from Lemierre syndrome with thrombosis extended to the right sigmoid sinus. PMID:24471023

Kim, Taeyun; Choi, Jin-Young

2013-04-01

314

A case of cerebral infarct in combined antiphospholipid antibody and ovarian hyperstimulation syndrome.  

PubMed

Ovarian hyperstimulation syndrome is a serious complication of ovulation induction and has a diverse clinical spectrum from edema to thromboembolism. Antiphospholipid antibody syndrome, one of the well known hypercoagulable states, can be also manifested as an arterial or venous thrombosis and recurrent spontaneous abortion. Sometimes a patient with antiphospholipid antibodies might not notice a miscarriage and seek for assisted reproduction treatment, which harbors a chance of developing ovarian hyperstimulation syndrome. If this happens, the ovarian hyperstimulation syndrome can exacerbate the thrombotic complication of underlying antiphospholipid antibody syndrome, resulting in a catastrophic vascular event. The authors experienced a case of middle cerebral artery infarct, which developed during ovarian hyperstimulation syndrome in a 33-yr-old woman with a previous history of fetal loss. An elevated titer of anticardiolipin antibodies was noticed and persisted thereafter. The authors suggest screening tests for the presence of antiphospholipid antibodies before controlled ovarian hyperstimulation. PMID:12172061

Koo, Eun-Jung; Rha, Joung-Ho; Lee, Byoung-Ick; Kim, Myeong-Ok; Ha, Choong-Kun

2002-08-01

315

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

PubMed

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

Sachdeva, Shabina; Kalra, Namita; Kapoor, Pranav

2012-02-01

316

Brief Report: The Association between Autism and Fragile X Syndrome: A Case Report.  

ERIC Educational Resources Information Center

This article presents a case report of a male child with Fragile X syndrome, typical autistic behavior, and cerebellar hypoplasia. Questions are raised concerning the possible role and importance of cerebellar abnormalities in relation to autistic symptoms. (DB)

Lenti, Carlo

1995-01-01

317

The Noonan Syndrome--A Review of the Clinical and Genetic Features of 27 Cases  

ERIC Educational Resources Information Center

Reviewed were clinical and genetic features of 27 cases of the Noonan Syndrome, a condition with characteristics such as webbing of the neck, short stature, frequent congential heart lesions, and chromosomal irregularities. (DB)

Collins, Edith; Turner, Gillian

1973-01-01

318

Hughes-Stovin Syndrome: a case report and review of the literature  

PubMed Central

Background Hughes-Stovin syndrome is a rare entity. The aetiology of Hughes-Stovin syndrome is still unknown and the natural course of the illness is usually fatal; however it is supposed to be a clinical variant manifestation of Behçet disease. Case presentation We report the case of an 18 years old, greek male patient with Hughes-Stovin syndrome, who initially presented with deep vein thrombosis. There were no findings consistent with Behçet disease and the haemoptysis was treated successfully with methylprednisolone. Pathogenesis, imaging investigation and treatment of this syndrome are also briefly discussed. Conclusion In young men presenting with venous thrombosis as revealed on imaging examination, with platelet count and coagulation tests within normal and hemoptysis the eventuality of Hughes-Stovin syndrome is to be considered. PMID:19178695

2009-01-01

319

Venous sinus thrombosis in a child with nephrotic syndrome: a case report and literature review  

PubMed Central

Nephrotic syndrome is associated with a hypercoagulable state and an increased risk of thromboembolic complications. Cerebral venous sinus thrombosis is a rare complication of nephrotic syndrome, with few cases described in the literature, although the disease may be under-diagnosis. The true incidence of cerebral venous sinus thrombosis may be underestimated because many events are asymptomatic or are not diagnosed in time. Here, we describe the case of a male child, 2 years and 10 months old, with nephrotic syndrome presenting with headache, epileptic seizures and sensory inhibition who was diagnosed with superior sagittal and transverse sinuses thrombosis. An international literature review was performed with a defined search strategy in the PubMed, SciELO and Lilacs databases using the terms ‘nephrotic syndrome’ and ‘cerebral sinovenous thrombosis’. The diagnosis of venous thrombosis should be considered in any patient with nephrotic syndrome who presents with neurological signs and symptoms, as early clinical diagnosis promotes favorable outcomes. PMID:25607275

Torres, Ronaldo Afonso; Torres, Bruna Ribeiro; de Castilho, Alessandra Soares Rocha; Honorato, Ronaldo

2014-01-01

320

Seizure, deafness and renal agenesis: A rare case of barakat syndrome  

PubMed Central

Etiologic diagnosis of seizure requires proper consideration of apparently unrelated clinical features of the patient. Here, we report the case of a patient of status epilepticus with moderate-to-severe bilateral sensorineural deafness. Investigations showed extensive intracranial calcification, hypoparathyroidism and unilateral renal agenesis. The features were consistent with Barakat syndrome, a rare developmental disorder associated with mutations in the GATA3 gene. To the best of our knowledge, this is the first reported case of Barakat syndrome from India. PMID:23661972

Sau, Tanmayjyoti; Chatterjee, Atri; Ghosh, Kaushik; Dey, Sandip

2013-01-01

321

Superior mediastinal paraganglioma associated with von Hippel-Lindau syndrome: report of a case  

PubMed Central

Extra-adrenal pheochromocytomas are termed paragangliomas. Paragangliomas in the mediastinum, especially the superior mediastinum, are extremely rare. It is known that paragangliomas or pheochromocytomas occur in combination with von Hippel-Lindau syndrome. We present the case of a non-functional superior mediastinal paraganglioma in a patient with von Hippel-Lindau syndrome, without a familial history suggestive of the condition. This case highlights that we should be aware of possible sporadic von Hippel-Lindau syndrome in patients with a mediastinal paraganglioma. PMID:24678933

2014-01-01

322

Dual paraneoplastic syndromes in a patient with small cell lung cancer: a case report  

PubMed Central

Introduction We describe the case of a patient with small cell lung cancer and dual paraneoplastic syndromes involving adrenocorticotropic hormone and calcitonin. To the best of our knowledge, dual paraneoplastic syndromes involving these two hormones have not been previously reported in the literature. Case presentation A 74-year-old Caucasian woman presented with a left hilar mass and metastatic disease in the liver and right adrenal gland. The patient complained only of intermittent diarrhea. Her laboratory values exhibited metabolic alkalosis with hypokalemia, hypocalcemia, hypomagnesemia, hypophosphatemia, and hyperglycemia. Conclusion We discuss the work-up and treatment of the patient's unusual laboratory presentation with two concurrent paraneoplastic syndromes. PMID:21771301

2011-01-01

323

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

PubMed

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

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

2014-04-01

324

The rosai dorfman syndrome-the report of a rare case.  

PubMed

Rosai Dorfman syndrome known as Sinus Histiocytosis with Massive Lymphadenopathy (SHML) is an uncommon benign systemic histio-proliferative disease which affects lymph nodes , most often those of the neck (cervical lymphadenopathy). The characteristic histological feature is lymphophagocytosis which is specific for this syndrome. Evidence based survey reveals that many cases that have been reported in india are from medical fraternity other than dental colleagues. As dental professionals we document a rare case of Rosai - Dorfman syndrome , reported to the department of oral and maxillofacial pathology with the cheif complaint of swelling in the neck region. PMID:23998111

R, Snehalatha; P, Senthilnathan; Ramani, Prathiba; Herald, Sherlin J

2013-07-01

325

The Rosai Dorfman Syndrome-The Report of A Rare Case  

PubMed Central

Rosai Dorfman syndrome known as Sinus Histiocytosis with Massive Lymphadenopathy (SHML) is an uncommon benign systemic histio-proliferative disease which affects lymph nodes , most often those of the neck (cervical lymphadenopathy). The characteristic histological feature is lymphophagocytosis which is specific for this syndrome. Evidence based survey reveals that many cases that have been reported in india are from medical fraternity other than dental colleagues. As dental professionals we document a rare case of Rosai – Dorfman syndrome , reported to the department of oral and maxillofacial pathology with the cheif complaint of swelling in the neck region. PMID:23998111

R, Snehalatha; P, Senthilnathan; Ramani, Prathiba; Herald, Sherlin J

2013-01-01

326

A case of neuroleptic malignant syndrome induced by olanzapine in postpartum period.  

PubMed

Neuroleptic malignant syndrome (NMS) is a life-threatening medical complication that occurs as a result of dopaminergic receptor blockage in nigrostriatal pathways. This syndrome is mainly accepted to be an idiosyncratic reaction for antipsychotic medications. Incidence of NMS induced by olanzapine - an atypical antipsychotic - is extremely rare. However, there has been contradiction on postpartum period as a risk factor for NMS. This case is of interest due to the fact that it happens on postpartum period and is induced by olanzapine. We aimed in this study to evaluate the successfully cured case of neuroleptic malignant syndrome induced by olanzapine in postpartum period with the literature view. PMID:20680143

Ustünda?, Mehmet; Orak, Murat; Gülo?lu, Cahfer; Sayhan, Mustafa Burak; Ta?, Mahmut

2007-10-01

327

A case of neuroleptic malignant syndrome induced by olanzapine in postpartum period  

PubMed Central

Neuroleptic malignant syndrome (NMS) is a life-threatening medical complication that occurs as a result of dopaminergic receptor blockage in nigrostriatal pathways. This syndrome is mainly accepted to be an idiosyncratic reaction for antipsychotic medications. Incidence of NMS induced by olanzapine - an atypical antipsychotic - is extremely rare. However, there has been contradiction on postpartum period as a risk factor for NMS. This case is of interest due to the fact that it happens on postpartum period and is induced by olanzapine. We aimed in this study to evaluate the successfully cured case of neuroleptic malignant syndrome induced by olanzapine in postpartum period with the literature view. PMID:20680143

Üstünda?, Mehmet; Orak, Murat; Gülo?lu, Cahfer; Sayhan, Mustafa Burak; Ta?, Mahmut

2007-01-01

328

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

PubMed Central

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

2012-01-01

329

Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report.  

PubMed

Ellis-van Creveld (EVC) syndrome is a form of skeletal and chondroectodermal dysplasia, occurring with and without systemic involvement. Taurodontism of permanent and primary molars and upper posterior supernumerary teeth are rarely associated with this syndrome. A 5-year-old girl presented with early childhood caries and hypodontia. She had labiogingival adhesion, labiogingival frenulum hypertrophy, accessory labiogingival frenula, and a serrated appearance of the gingiva. She was also short in stature. All major features of chondroectodermal dysplasia were present. EVC syndrome requires multidisciplinary therapeutic planning, and the dentist plays a fundamental role in management of the oral and dental manifestations. PMID:20587962

Aminabadi, Naser A; Ebrahimi, Akram; Oskouei, Sina G

2010-06-01

330

Anesthetic management of HELLP syndrome complicating primary antiphospholipid syndrome -A case report-  

PubMed Central

Antiphospholipid syndrome (APS) is defined as an autoimmune disorder characterized by recurrent thrombosis or obstetrical morbidity. A 29-year-old woman who was diagnosed with APS underwent emergency cesarean delivery at 23 weeks' gestation. She had a seizure attack and her laboratory findings were: AST/ALT 1459/1108 IU/L, LDH 1424 IU/L, 30% hematocrit, a platelet count of 43 × 103/ml and urine protein (4+). We describe the anesthetic experience of catastrophic HELLP syndrome with antiphospholipid syndrome and we review the relevant literature. PMID:22778897

Jo, Youn Yi; Lee, Kyung Cheon; Kim, Hong Soon; Bae, Hyun Kyung

2012-01-01

331

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

ERIC Educational Resources Information Center

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

Sykes, Stewart C.; Christie, Margarette A.

1987-01-01

332

Case Study: Sick Building Syndrome in a Humid Climate  

E-print Network

an investigation plan. Collectively the nonspecificity of the responses tended to indicate building-related problems often described by the term ''Sick Building Syndrome" (SBS). Based on the questionnaire responses, the walkthrough observations, and the lack...

Shaughnessy, R. J.; Levetin, E.

1990-01-01

333

[An encumbered woman, a case of Diogenes syndrome].  

PubMed

One of the most visible symptoms of Diogenes syndrome is the excessive hoarding of disparate objects in the home of the patient. This article describes an attempt to treat an "encumbered" woman. PMID:25095590

Djemaď, Messaoud

2014-01-01

334

A case of caudal regression syndrome: walking or sitting?  

PubMed Central

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

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

2014-01-01

335

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

PubMed

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

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

2013-06-01

336

Macrocephaly–capillary malformation syndrome: Three new cases  

Microsoft Academic Search

Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly–Capillary Malformation (M–CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and\\/or

Inusha Panigrahi; Mani Bhushan; Mukesh Yadav; Niranjan Khandelwal; Pratibha Singhi

337

Bariatric Surgery in Hypothalamic Obesity  

PubMed Central

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

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

2012-01-01

338

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

PubMed

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

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

2014-05-01

339

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

340

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. PMID:18652664

Massarotti, Marco; Ciocia, Gianluigi; Ceriani, Roberto; Chiti, Arturo; Marasini, Bianca

2008-01-01

341

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

PubMed Central

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

2014-01-01

342

[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

343

Opsoclonus-myoclonus syndrome attributable to West Nile encephalitis: a case report  

PubMed Central

Introduction Opsoclonus-myoclonus syndrome is a very rare neurological disorder associated with some viral infections and exceptionally with the West Nile virus. Case presentation A 57-year-old Caucasian woman presented with fever, dizziness, balance difficulties, vomiting, dancing eye, altered speech, tremor, generalized myoclonus and failure to rise or stand. Our objective is to describe a patient with West Nile infection, which was identified both in her serum and cerebrospinal fluid and was associated with encephalitis and opsoclonus-myoclonus-ataxia syndrome. Conclusions Opsoclonus-myoclonus-ataxia syndrome continued for 4 weeks after onset, when she died. There was no evidence for any other etiology responsible for her opsoclonus-myoclonus syndrome. Her opsoclonus-myoclonus syndrome appeared associated with West Nile encephalitis and had an unfavorable evolution despite treatment. PMID:24968889

2014-01-01

344

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.  

PubMed

Lennox-Gastaut syndrome (LGS) is a drug-resistant epileptic encephalopathy of childhood with a heterogeneous etiology. Recently, genome-wide association studies have led to the identification of new de novo mutations associated with this epileptic syndrome. Herein, we report an 8-year-old child with intellectual disability, severe postnatal microcephaly, Rett-like features, and LGS, carrying a de novo missense mutation in the forkhead box G1 (FOXG1) gene. This gene is responsible for FOXG1 syndrome, characterized by severe postnatal microcephaly, moderate postnatal growth deficiency, mental retardation with poor social interaction, stereotyped behavior and dyskinesias, absent language, sleep disorders, and epilepsy. Nonspecific epilepsy syndromes have been associated with this genetic disorder. Thus, we hypothesize that FOXG1 might be a new candidate gene in the etiology of LGS and suggest screening for this gene in cases of LGS with concomitant microcephaly and clinical features overlapping with Rett syndrome. PMID:25266269

Terrone, Gaetano; Bienvenu, Thierry; Germanaud, David; Barthez-Carpentier, Marie-Anne; Diebold, Bertrand; Delanoe, Catherine; Passemard, Sandrine; Auvin, Stéphane

2014-11-01

345

Fahr’s Syndrome- An Interesting Case Presentation  

PubMed Central

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

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

2013-01-01

346

Unilateral microfibrillar abnormalities in a case of asymmetric Marfan syndrome.  

PubMed Central

The Marfan syndrome is a dominantly inherited connective-tissue disorder characterized by ocular, cardiovascular, and musculoskeletal abnormalities. Although the underlying biochemical and molecular defect(s) of this pleiotropic disease is currently unknown, we have consistently observed apparent diminished content of elastin-associated microfibrillar fibers accumulating in skin, or produced by cultured fibroblasts, from patients with the Marfan syndrome and have documented the cosegregation of these immunofluorescent abnormalities of microfibrillar fibers with the Marfan syndrome phenotype in family studies. Recently, an unusual patient has been described with unilateral phenotypic features of the Marfan syndrome, providing an unique opportunity to compare microfibrillar fibers and other connective-tissue components between the affected and nonaffected sides. In the present report, we demonstrate striking differences in apparent content of microfibrillar fibers, as determined by indirect immunofluorescence of skin and fibroblast cultures, that are revealed when multiple homologous samples derived from different sides of the patient's body are compared. In contrast, no differences in apparent content of type III collagen or in the biosynthesis and apparent structure of types I and III (pro)collagens were found. HLA types and chromosome heteromorphisms were identical in fibroblasts from both sides of the body, eliminating the formal possibility of chimerism and suggesting that a postzygotic mutation accounts for the asymmetric manifestation of the Marfan syndrome in this patient. The observation of striking decreases in microfibrillar fibers on the affected side of the body provides further evidence that abnormalities of this component of the elastic fiber system may be central to the pathogenesis and possibly the etiology of the Marfan syndrome. Images Figure 5 Figure 4 Figure 1 Figure 2 Figure 3 Figure 6 PMID:2180285

Godfrey, M; Olson, S; Burgio, R G; Martini, A; Valli, M; Cetta, G; Hori, H; Hollister, D W

1990-01-01

347

A case of the Roussy-Levy syndrome family.  

PubMed

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

Bartosik-Psujek, H; Stelmasiak, Z

2001-01-01

348

Placental expression of anti-angiogenic proteins in mirror syndrome: a case report.  

PubMed

Mirror syndrome is a rare disorder in which fetal hydrops is associated with maternal oedema, proteinuria and hypertension. The aetiology of the maternal condition is unknown, but it is thought to be related to preeclampsia. Few descriptions exist of placental morphology in mirror syndrome, but placentomegaly is consistently observed. In this case placental morphology showed villous oedema and syncytial nuclear aggregates where villi were in direct contact. Immunoperoxidase staining for VEGFR1 and Endoglin was more intense in mirror syndrome compared to gestational-age matched controls,and at a similar level to a case of preeclampsia. Placentally-derived anti-angiogenic factors may be involved in the pathogenesis of mirror syndrome. PMID:22401877

Graham, N; Garrod, A; Bullen, P; Heazell, A E P

2012-06-01

349

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

PubMed

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

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

2012-01-01

350

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

PubMed

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

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

2014-04-01

351

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

PubMed Central

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

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

2013-01-01

352

Hennebert's sign in superior semicircular canal dehiscence syndrome: a video case report.  

PubMed

Superior semicircular canal dehiscence (SSCD) syndrome has been called the great otologic mimicker because its presentation overlaps with otosclerosis, Meniere's disease, perilymphatic fistula, and patulous eustachian tube. A valuable examination finding that can help distinguish SSCD syndrome from other pathologic conditions is the presence of Hennebert's sign, in which pressure changes in the external auditory canal evoke stereotyped eye movements that align in the plane of the dehiscent semicircular canal. This video case report demonstrates Hennebert's sign associated with SSCD syndrome and discusses its pathophysiological basis. PMID:22252740

Shuman, Andrew G; Rizvi, Syed S; Pirouet, Chantale W; Heidenreich, Katherine D

2012-02-01

353

Hemolytic uremic syndrome complicated with IgA nephropathy: a case report and literature review.  

PubMed

A previously healthy young female, presenting with nausea, vomiting, diarrhea, anemia, thrombocytopenia, and acute renal failure, was admitted to our hospital. Her clinical and histological features were consistent with both hemolytic uremic syndrome and IgA nephropathy, and she responded to steroid treatment, plasma transfusion, and gamma globulin therapy and did not need hemodialysis. In the following months, she achieved clinical remission except for low complement C3. Since hemolytic uremic syndrome is rarely associated with IgA nephropathy, we present this case and discuss potential connection between hemolytic uremic syndrome and IgA nephropathy. PMID:24290408

Wang, Rong; Zhang, Yiyan; Li, Shijun; Chen, Hao; Zeng, Caihong; Chen, Huiping; Tang, Zheng; Liu, Zhihong

2015-01-01

354

Lemierre syndrome-should we anticoagulate? A case report and review of the literature.  

PubMed

Lemierre syndrome is an uncommon condition classically described in acute oropharyngeal infection with septic thrombophlebitis of the internal jugular vein and metastatic septic embolism particularly to the lungs. It is commonly described in young healthy adults with isolation of Fusobacterium necrophorum. We describe a case of Lemierre syndrome in a 50-year-old man with newly diagnosed diabetes mellitus presenting with a neck abscess secondary to Klebsiella pneumoniae. Our patient made good recovery to appropriate antimicrobial therapy, prompt surgical drainage, and anticoagulation. Anticoagulation remains controversial and we review the literature for its role in Lemierre syndrome. PMID:24436600

Phua, C K; Chadachan, V M; Acharya, R

2013-06-01

355

Lemierre Syndrome—Should We Anticoagulate? A Case Report and Review of the Literature  

PubMed Central

Lemierre syndrome is an uncommon condition classically described in acute oropharyngeal infection with septic thrombophlebitis of the internal jugular vein and metastatic septic embolism particularly to the lungs. It is commonly described in young healthy adults with isolation of Fusobacterium necrophorum. We describe a case of Lemierre syndrome in a 50-year-old man with newly diagnosed diabetes mellitus presenting with a neck abscess secondary to Klebsiella pneumoniae. Our patient made good recovery to appropriate antimicrobial therapy, prompt surgical drainage, and anticoagulation. Anticoagulation remains controversial and we review the literature for its role in Lemierre syndrome. PMID:24436600

Phua, C.K.; Chadachan, V.M.; Acharya, R.

2013-01-01

356

Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature.  

PubMed

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, recurrent pyogenic infections (skin, mucosa and respiratory system), and neurologic deficit. The hallmark of this syndrome is the presence of abnormal intracytoplasmic giant granules in all granule containing cells including leukocytes in blood and bone marrow. A majority (85 %) of patients with CHS develop an accelerated phase consisting of a lymphoproliferative syndrome with hemophagocytosis and infiltration of most tissues. This phase is characterized by fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia and neurological abnormalities. In this paper, we report a case of CHS presented as accelerated phase in a 9-month-old girl child. PMID:25332584

Bouatay, Amina; Hizem, Sondes; Tej, Amel; Moatamri, Wided; Boughamoura, Lamia; Kortas, Mondher

2014-09-01

357

Sore throat progressing to embolic sepsis: A case of Lemierre’s syndrome  

PubMed Central

Lemierre’s syndrome is a rare clinical syndrome defined as oropharyngeal sepsis, thrombophlebitis of the internal jugular vein and septic thombo-emboli. It is typically encountered in young, immunocompetent individuals, with a mean incident age of 20 years. The organism that is most commonly associated is an anaerobic Gram-negative bacterium: Fusobacterium species. The defined treatment course is at least six weeks of antibiotics, with the role of anticoagulation being unclear. The present article documents a case of Lemierre’s syndrome complicated by acute renal failure and loculated pleural effusion in an otherwise healthy 16-year-old patient. PMID:20186362

Dirks, Jacquelyn; Bowie, Dennis

2010-01-01

358

Schmidt’s syndrome presenting as a generalised anxiety disorder: a case report  

PubMed Central

Abstract Schmidt’s syndrome or autoimmune polyglandurar syndrome type 2 represents an uncommon endocrine disorder composed by Addison’s disease with autoimmune thyroid disease and/or type 1 diabetes mellitus. The syndrome usually affects women in the fourth decade of their lives. Prompt diagnosis and treatment can prevent serious complications. We present the case of a 64-year-old woman with generalised anxiety, facing socio-economic problems. Her symptoms attributed to stress led to a late diagnosis. Physicians involved have to be aware about endocrine disorders of which first manifestations may have atypical components mimicking mental health problems. PMID:24868260

Anyfantakis, D; Symvoulakis, EK; Vourliotaki, I; Kastanakis, S

2013-01-01

359

Churg-Strauss syndrome presented as paraneoplastic syndrome with thymic neuroendocrine carcinoma: a case report.  

PubMed

Churg-Strauss syndrome (CSS) is rarely presented as paraneoplastic syndrome. We reported here a 47-year-old man with refractory asthma for 3 years, and his CT scan showed an anterior mediastinal mass, pulmonary reticular opacities and bilateral maxillary sinusitis. He also presented with elevated peripheral blood eosinophils (EOS). Thoracoscopic resection of the mediastinal mass and a lung biopsy were performed, and thymic neuroendocrine carcinoma (TNC) and pulmonary eosinophilic vasculitis were pathologically diagnosed. The laboratory and clinical findings fulfilled the criteria of the diagnosis of CSS (Masi et al. in Arthritis Rheum 33(8):1094-1100, 1990). Asthma was improved, and elevated EOS was recovered to normal range after surgery and four courses of chemotherapy. This was the first report of CSS manifested as a paraneoplastic syndrome of TNC. PMID:21901349

Liu, Tao; Cai, Baiqiang; Feng, Ruie

2012-11-01

360

Symptomatic hemorrhagic pleural effusion: A rare presentation of ovarian hyperstimulation syndrome: A Case Report  

PubMed Central

Isolated unilateral pleural effusion is uncommon presentation of ovarian hyperstimulation syndrome. The pathogenesis of this syndrome involves an increased permeability of ovarian capillaries and mesothelial vessels triggered by the release of vasoactive substances by the ovaries under human chorionic gonadotropin stimulation. Physicians should consider this potentially life-threatening diagnosis in all patients who undergo ovarian hyperstimulation. This case highlights a rare clinical manifestation of isolated hemorrhagic pleural effusion associated with ovarian hyperstimulation PMID:24533029

Alaraj, Ali

2013-01-01

361

Touraine-Soulente-Golé Syndrome: A Rare Case Report and Review of the Literature  

PubMed Central

Touraine-Soulente-Golé Syndrome (TSG) or pachydermoperiostosis is a rare disorder characterized by pachydermia, periostosis & digital clubbing. Herein, we report a case of a 27 year old male, with the looks of a 47 year old. He presented with excessive wrinkling on his face since past 8 years. TSG syndrome was suspected and examined by histopathological, endocrinological and radiological studies for the confirmation of clinical diagnosis. PMID:24003280

Sidhu, Sandeep; Mahajan, Bharat Bhushan

2013-01-01

362

De Sanctis-Cacchione Syndrome in a female infant - Case report*  

PubMed Central

The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported. PMID:24474111

Caldas, Amadeus Lima Rocha; Rodrigues, Mecciene Mendes

2013-01-01

363

Used infant mattresses and sudden infant death syndrome in Scotland: case-control study  

Microsoft Academic Search

AbstractObjective: To examine the proposition that a used infant mattress is associated with an increased risk of sudden infant death syndrome.Design:Case-control study.Setting: Scotland (population 5.1 million, with about 53 000 births a year).Participants: 131 infants who died of sudden infant death syndrome between 1 January 1996 and 31 May 2000 and 278 age, season, and obstetric unit matched control infants.Main

David Tappin; Hazel Brooke; Russell Ecob; Angus Gibson

2002-01-01

364

De Quervain's syndrome associated with osteopoikilosis: a case report and review of the literature.  

PubMed

Osteopoikilosis is a rare, usually asymptomatic, autosomal-dominant bone disorder, which is generally diagnosed incidentally on X-ray. De Quervain's syndrome is a disorder characterized by pain on the radial (thumb) side of the wrist, impairment of thumb function and thickening of the ligamentous structure covering the tendons in the first dorsal compartment of the wrist. In this case report, we present a young woman with De Quervain's syndrome associated with osteopoikilosis. PMID:19856179

Kaparov, Asylbek; Uludag, Murat; Sari, Hidayet; Akarirmak, Ulkü

2011-06-01

365

Advances in Medical Technology and Creation of Disparities: The Case of Down Syndrome  

Microsoft Academic Search

Objectives. We assessed socioeconomic differences in probabilities of prena- tal diagnoses of Down syndrome and continuation of pregnancies after such di- agnoses, along with the effects of these differences on disparities in live-birth prevalences of Down syndrome. Methods. Using population-based data derived from 1433 cases of Down syn- drome and 3731 control births, we assessed age-adjusted effects of maternal oc-

Babak Khoshnood; Catherine De Vigan; Véronique Vodovar; Gérard Bréart; François Goffinet; Béatrice Blondel

366

Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? A Case Report.  

PubMed

Patient presented with a congenital discharging branchial sinus. Pre-operative work up including a CT scan of the abdomen-pelvis revealed absence of the left kidney. Branchio-Oto-Renal (BOR) syndrome, a rare autosomal dominant disorder is characterized by branchial arch anomalies, otological and renal anomalies. Clinical manifestations tend to have considerable variability, But no case with branchial and renal abnormality sans otological defects has been described yet in the spectrum of BOR syndrome variants. PMID:24533416

Safaya, A; Shah, S; Doshi, B

2014-01-01

367

“Peripheral Neuropathy Crippling Bronchial Asthma”: Two Rare Case Reports of Churg-Strauss Syndrome  

PubMed Central

Churg-Strauss syndrome (CSS) is a rare cause of vasculitic neuropathy. Although rare and potentially fatal, Churg-Strauss syndrome (CSS) is easily diagnosable and treatable. The presence of bronchial asthma with peripheral neuropathy in a patient alerts a physician to this diagnosis. This is vividly illustrated by the presented two cases who had neuropathy associated with bronchial asthma, eosinophilia, sinusitis, and positive perinuclear antineutrophil cytoplasmic antibodies (p-ANCA) test, which improved with administration of steroids. PMID:25580342

Pandita, Kamal Kishore; Bhat, Khalid Javid; Razdan, Sushil; Kudyar, R. P.

2014-01-01

368

Gorlin’s syndrome — Report of a case and management of cystic lesions  

Microsoft Academic Search

Gorlin’s syndrome associated with multiple cystic lesions is a rare and uncommon condition. It is characterized by cutaneous\\u000a basal cell carcinomas, multiple keratocysts in the jaw bones and skeletal anomalies. A case is presented with multiple odontogenic\\u000a keratocyst and dentigerous cysts occurring in all quadrants of oral cavity with features suggestive of Gorlin’s Syndrome.\\u000a The clinical presentation and the management

Venkatesh Anehosur

2009-01-01

369

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. PMID:23056878

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

2012-01-01

370

A case of Turner syndrome with schizophrenia: genetic relationship between Turner syndrome and psychosis.  

PubMed

An 82-year-old woman with Turner syndrome and schizophrenia, and her 46-year-old daughter with schizophrenia are described. 45X/46XX chromosomal mosaicism was identified in the peripheral leukocytes of the mother, who showed several Turner dysmorphisms and cavum septi pellucidum in the brain. She had a normal reproductive life-span. The daughter resembled the mother in terms of schizophrenic symptoms, but she did not show any signs of Turner dysmorphism or chromosomal abnormality. The phenotype-karyotype relationship of Turner syndrome and the genetic relationship with psychosis are discussed. PMID:9141146

Kawanishi, C; Kono, M; Onishi, H; Ishii, N; Ishii, K

1997-04-01

371

The anterior interosseous nerve syndrome (the Kiloh-Nevin syndrome). Report and follow-up study of three cases.  

PubMed

Three surgically treated cases demonstrate that this syndrome is a compressive neuropathy of the anterior interosseous branch of the median nerve rather than a neuritis, as originally believed. All symptoms were in the dominant hand and included deterioration of handwriting, pain, weakness of the flexor policis longus, the flexor digitorum longus to the index finger, and the pronator quadratus. Electromyograms were abnormal in two of the three cases. All forms of conservative treatment failed over a three- to five-month period. All lesions were demonstrable at surgery, and recovery was complete in all cases within five months of surgery. At an average follow-up evaluation of seven years there was no recurrence in any case. The loss of ability to write was characteristic of all three cases and is being reported for the first time. PMID:6744722

Stern, M B

1984-01-01

372

Blue rubber bleb nevus syndrome: Report of a case  

Microsoft Academic Search

Summary  A 21-year-old man had blue rubber bleb nevus syndrome: 1) hemangiomas of the skin all over the body; 2) hemangiomas of the\\u000a digestive system; 3) iron-deficiency anemia. A giant mass of hemangiomas in the tranverse colon was resected surgically.

Gizo Nakagawara; Eiichi Asano; Shoichi Kimura; Ryuichi Akimoto; Itsuo Miyazaki

1977-01-01

373

Dysfluency and Phonic Tics in Tourette Syndrome: A Case Report.  

ERIC Educational Resources Information Center

This study investigated the disfluencies and phonic tics in an 18- year-old male with Tourette syndrome before and after a 3-week period of speech therapy. The subject's speech pattern did not completely conform to the classic pattern of stuttering but bore more resemblance to cluttering. A limited number of therapy sessions resulted in a…

Van Borsel, John; Vanryckeghem, Martine

2000-01-01

374

Ovarian remnant syndrome in a Toy Poodle: a case report.  

PubMed

Ovarian remnant syndrome was diagnosed in a 3-yr-old, female Toy Poodle presented with signs of estrus. The diagnosis was based on the clinical and laboratory changes in response to injection with hCG. The remnant of ovarian tissue was removed surgically under general anesthesia and the animal recovered uneventfully. PMID:16727730

Perkins, N R; Frazer, G S

1995-08-01

375

Moyamoya syndrome associated with Graves’ disease: a case series study  

PubMed Central

Objective The aim of this study was to describe the clinical and radiological findings of patients with moyamoya syndrome and Graves’ disease. Possible mechanisms predisposing these individuals to ischemic stroke are discussed. Methods We retrospectively analyzed 12 consecutive patients with both moyamoya syndrome and Graves’ disease. Moyamoya vasculopathy was diagnosed by digital subtract angiography or magnetic resonance angiography (MRA). The clinical characteristics, laboratory data, vascular radiological characteristics and outcome were reported. Results All patients were female and mean age was 33.33±12.65 years. Stenosis or occlusion of bilateral terminal internal carotid artery and/or proximal anterior/middle cerebral arteries was found in nine patients. Among them, three patients displayed asymmetrical stenosis. In addition, there were three patients with probable unilateral moamoya syndrome. Eleven patients presented with ischemic stroke and/or transient ischemic attack (TIA) and one with dizziness. Thyroid function tests demonstrated elevated thyroid hormone levels and suppressed thyroid stimulating hormone levels in all the patients with ischemic events. All patients received anti-thyroid therapy and two had recurrent ischemic attack after drug withdrawal. Conclusions Moyamoya syndrome associated Graves’ disease often presented with asymmetric stenosis or occlusion. We hypothesize cerebrovascular hemodynamic changes due to thyrotoxicosis contribute to the ischemic events. PMID:25333052

Zhou, Li-Xin; Wei, Yan-Ping; Li, Ming-Li; Xu, Wei-Hai; Gao, Shan; Cui, Li-Ying

2014-01-01

376

Pulsed radiofrequency treatment in a case of Eagle's syndrome.  

PubMed

Eagle (Arch Otolaryngol. 1937;25:584 and Arch Otolaryngol. 1949;49:490) first identified elongation of the styloid process and ossification of the stylohyoid ligament as a cause of orofacial pain. The elongated styloid process presses on the internal carotid artery and adjacent structures, including branches of the glossopharyngeal nerve and this produce orofacial pain. Some authors define an elongated styloid process as longer than 4?cm because this length is associated with an increase in the incidence of Eagle's syndrome. The syndrome is diagnosed by exclusion (Walkman SD. Atlas of Uncommon Pain Syndromes. Philadelphia: Elsevier Science; 2003), and the diagnosis is confirmed by radiological studies and computed tomography. Treatment can be divided into medical, interventional, and surgical techniques. We report a patient with symptoms of glossopharyngeal neuralgia, who was diagnosed with Eagle's syndrome on the basis of diagnostic imaging. The length of the stylohyoid process was 63?mm on the left side and 64?mm on the right. Treatment was performed by applying pulsed radiofrequency to the glossopharyngeal nerve with satisfactory results. The technique was performed twice on an outpatient basis, produced no complications or side effects, and proved effective in the short and medium term in decreasing the intensity of pain. PMID:23057728

Mollinedo, Fernando T; Esteban, Sonia L T; Vega, Cristina G; Orcasitas, Ana C; Maguregi, Antón A

2013-06-01

377

A Diagnostic Profile of Gerstmann's Syndrome: A Case Study  

ERIC Educational Resources Information Center

The authors present a diagnostic profile of Gerstmann's syndrome, the subject being a girl, aged 10 years 3 months, right-handed, and at the time of this study in her fourth school year (Grade 4). The subject's verbal and non-verbal IQ scores and additional assessment data were analyzed and summative responses given. The Senior South African…

Naude, H.; Pretorius, E.

2003-01-01

378

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

ERIC Educational Resources Information Center

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

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

2006-01-01

379

A clinical example of the "limping brain" syndrome: a case report.  

PubMed

We present a case report of a patient presenting with persistent aphasia for 1 week and cerebral hypoperfusion documented by single-photon emission tomography, both of which resolved completely after successful angioplasty of the symptomatic artery. This case represents a rare clinical example of "limping brain syndrome." PMID:15956524

Ehtisham, As'ad; Chimowitz, Marc I

2005-01-01

380

A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome  

Microsoft Academic Search

Objectives: The purpose of this study was to demonstrate that a quantitative, multivariate case definition of the fetal alcohol syndrome (FAS)3 facial phenotype could be derived from photographs of individuals with FAS and to demonstrate how this case definition and photographic approach could be used to develop efficient, accurate and precise screening tools, diagnostic aids and possibly surveillance tools. Study

Susan J. Astley; Sterling K. Clarren

1996-01-01

381

A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome  

Microsoft Academic Search

OBJECTIVES: The purpose of this study was to demonstrate that a quantitative, multivariate case definition of the fetal alcohol syndrome (FAS) facial phenotype could be derived from photographs of individuals with FAS and to demonstrate how this case definition and photographic approach could be used to develop efficient, accurate, and precise screening tools, diagnostic aids, and possibly surveillance tools. STUDY

Susan J. Astley; Sterling K. Clarren

1996-01-01

382

First Report of Preoperative Imaging Diagnosis of a Surgically Confirmed Case of Valentino's Syndrome.  

PubMed

Perforation of a duodenal ulcer (DU) into the retroperitoneal space presenting with clinical features of acute appendicitis is known as Valentino's syndrome. Post duodenal perforation, the gastric and duodenal fluids tend to settle in the right paracolic gutter causing peritonitis and clinically mimicking acute appendicitis. Only three cases of Valentino's syndrome have been reported till date in the published literature and there is only one previous report of its preoperative imaging diagnosis. To our knowledge, this is the first reported case of preoperative imaging diagnosis in a surgically confirmed case of Valentino's syndrome. In most cases, patients with undiagnosed Valentino's syndrome are operated for acute appendicitis, and on finding a normal appendix, search is made for the cause of peritonitis, which then leads to retroperitoneal perforation of duodenum. The diagnosis of Valentino's syndrome by computed tomography (CT) imaging is easy and can help in avoiding the surgery or directing the surgeon directly to the repair of the duodenal perforation. It is, therefore, essential for emergency physicians, surgeons, and radiologists to know about this entity and consider it in the differential diagnosis. PMID:24991479

Mahajan, Parag Suresh; Abdalla, Mohammed Fahmy; Purayil, Nishan K

2014-01-01

383

A case of Klippel-Feil syndrome with congenital enlarged Eustachian tube.  

PubMed

The Klippel-Feil syndrome is a congenital anomaly characterized by fusion of the cervical vertebrae. It is often associated with serious congenital anomalies of the nervous, cardiovascular and urogenital systems. One of the anomalies which have not been thoroughly investigated to date are that accompanying Klippel-Feil syndrome and enlarged Eustachian tube. We report a case of type III Klippel-Feil syndrome with associated rib anomalies such as hypoplastic and bifid ribs, scoliosis and elevated scapula (Sprengel's disease). The patient also presented hemifacial microsomia and central facial palsy of the lower right side of the face, urogenital and cardiovascular anomaly, congenital anorectal atresia and right-sided congenital aural atresia with microtia. Computer tomography of temporal bone showed abnormal extension of the right Eustachian tube with anomalies of the middle and inner ear on this particular side. In this case report we discuss the associated anomalies of the patient with Klippel-Feil syndrome. The aim of this case report is to draw attention to very rare case of patient with Klippel-Feil syndrome and enlarged pharyngotympanic tube. PMID:22301355

Jovankovi?ová, A; Jakubíková, J; Durov?íková, D

2012-04-01

384

Cri du chat syndrome: a series of five cases.  

PubMed

The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial deletion of the short (p) arm of chromosome 5. We describe five children who were diagnosed to have CdCS by conventional cytogenetic analysis. The deletion was at 5p15 in four patients, whereas the fifth had a larger, more proximal deletion at 5p14. Fluorescence in situ hybridization (FISH) analysis confirmed the deletion of the CdCS critical region at 5p15.2. All five children had global developmental delay and dysmorphism with microcephaly. The other clinical features were variable. Since the clinical diagnosis of CdCS may not always be evident because of the phenotypic heterogeneity, cytogenetic analysis is necessary to establish the diagnosis and confirm that the deletion involves the CdCS critical region. This will enable early intervention which plays an important role in improving the outcome. PMID:23455788

Dangare, Harsha M; Oommen, Samuel P; Sheth, Amisha N; Koshy, Beena; Roshan, Reeba; Thomas, Maya M; Danda, Sumita; Srivastava, Vivi M

2012-01-01

385

Eagle's syndrome associated with lingual nerve paresthesia: a case report.  

PubMed

Eagle's syndrome is characterized by a variety of symptoms, including throat pain, sensation of a foreign body in the pharynx, dysphagia, referred otalgia, and neck and throat pain exacerbated by head rotation. Any styloid process longer than 25 mm should be considered elongated and will usually be responsible for Eagle's syndrome. Surgical resection of the elongated styloid is a routine treatment and can be accomplished using a transoral or an extraoral approach. We report a patient with a rare giant styloid process that was approximately 81.7 mm. He complained of a rare symptom: hemitongue paresthesia. After removal of the elongated styloid process using the extraoral approach, his symptoms, including the hemitongue paresthesia, were alleviated. We concluded that if the styloid process displays medium to severe elongation, the extraoral approach will be appropriate. PMID:24742485

Dong, Zhiwei; Bao, Haihong; Zhang, Li; Hua, Zequan

2014-05-01

386

[Tako-Tsubo syndrome: report of one case].  

PubMed

Tako-Tsubo syndrome resembles an acute myocardial infarction in symptoms, laboratory parameters and electrocardiographic changes. However, angiography does not show evidence of coronary occlusion, and typically an apical ballooning of the ventricle in systole is observed. We report a 78-year-old woman with no coronary risks factors, admitted to the emergency room due to acute chestpain and an electrocardiogram compatible with an acute coronary syndrome with ST elevation. Serum troponin and creatin-kinase (MB fraction) were elevated. An emergency coronary angiography did not show a coronary occlusion. Due to the apical ballooning observed in the left ventriculography, a probable diagnosis of Tako-Tsubo was proposed. The patient had a favorable evolution. A treadmill test, echocardiogram and myocardial perfusión SPECT, performed one month later, disclosed no abnormalities. PMID:21879167

Rau, Carlos M; Kauffmann, Max; Rau, Carlos L; Cereceda, Mauricio; Castro, Gabriel; Massardo, Teresa

2011-03-01

387

Refeeding syndrome in Southeastern Taiwan: Our experience with 11 cases  

PubMed Central

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

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

2014-01-01

388

Multifocal streptococcal pyomyositis complicated by acute compartment syndrome: case report.  

PubMed

A 5-year-old girl sought treatment for pyrexia of unknown origin. Despite prompt surgical drainage of a streptococcal septic arthritis of the ankle joint, her condition deteriorated. Multifocal pyomyositis was subsequently diagnosed. This was complicated by acute compartment syndrome in three extremities. With aggressive surgical and medical management, the child made a complete recovery. Orthopaedic clinicians in nontropical areas must familiarize themselves with this rare, potentially life-threatening, but eminently curable disease. PMID:11360777

Harrington, P; Scott, B; Chetcuti, P

2001-04-01

389

Mycoplasma pneumoniae associated opsoclonus–myoclonus syndrome in three cases  

Microsoft Academic Search

Opsoclonus–myoclonus syndrome (OMS) is a rare acquired movement disorder occurring in all age groups, predominantly in infants.\\u000a Although the exact pathogenesis is still undefined, there is strong evidence for a paraneoplastic or parainfectious immune\\u000a process resulting in central nervous system dysfunction. Mycoplasma pneumoniae has been implicated in a number of immune-mediated neurologic diseases [28]. However, the association of M. pneumoniae

Benedikt Maria Huber; Susi Strozzi; Maja Steinlin; Christoph Aebi; Simon Fluri

2010-01-01

390

Atypical Presentation of Antiphospholipid Syndrome: A Case Report  

PubMed Central

We report an atypical presentation of Antiphospholipid syndrome (APS) with concomitant subhyaloid hemorrhage, engorged and tortuous retinal veins, intraretinal hemorrhages, and cotton wool spots in a 38-year-old female. Medical treatment was preferred to any invasive treatment. The subhyaloid hemorrhage resolved spontaneously and the patient recovered a visual acuity of 20/20 in her right eye 3 months after the initial episode. A prompt diagnosis of this condition is fundamental to consider a systemic treatment to avoid any further thrombosis.

Mariotti, Cesare; Giovannini, Alfonso; Reibaldi, Michele; Saitta, Andrea; Viti, Francesca; Nicolai, Michele

2014-01-01

391

A case of gastric cancer with nephrotic syndrome.  

PubMed

A 77-year-old woman complaining of anorexia and nausea was referred to the hospital with a diagnosis of advanced gastric cancer. The patient also had congestive heart failure with atrial fibrillation and severe hypoproteinemia. Proteinuria, hypoproteinemia and other laboratory data suggested that she had nephrotic syndrome. Total protein level was 4.6 g/dl and albumin level was 1.6 g/dl. In order to avoid postoperative complications such as wound dehiscence, anastomotic leakage and so on, careful pre- and post-operative management of nephrotic syndrome is necessary. Administration of albumin and fresh frozen plasma regimen was continued after the operation. Urinary protein level started to decrease after subtotal gastrectomy. Histological examination revealed moderately differentiated tubular adenocarcinoma with nodal metastases. Her post-operative course was uneventful. Although the signs and symptoms of nephrotic syndrome did not improve immediately, twelve months after operation she has become well and has no symptoms of ascites and hypoproteinemia. PMID:9787600

Eriguchi, N; Aoyagi, S; Hara, M; Tanaka, E; Hashimoto, M

1998-01-01

392

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

PubMed Central

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

Ashoori, Aidin; Jankovic, Joseph

2007-01-01

393

Case report: Adult phenotype of Mulvihill-Smith syndrome.  

PubMed

Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated. We report a 28-year-old woman with Mulvihill-Smith syndrome, who had a solid pseudopapillary cystic tumor of her pancreas at age 17 years. Her distinctive sleep pattern includes severe insomnia with disappearance of sleep spindles and K-complexes, persisting muscle tone, and loss of slow wave sleep. The clinical and neurophysiological studies are compatible with agrypnia excitata, a sleep disorder attributable to a dysfunction of the thalamo-limbic system. Brain magnetic resonance imaging and single photon emission computed tomography revealed structural and functional deficits in the dorsomedial region of the thalamus and indicated that an alteration in the thalamo-limbic system may underlie the sleep disturbances in MSS. Furthermore, the rapid and severe decline in acquired cognitive function showed the distinct cognitive impairments resembling dementia, including intellectual deficits, memory disorder and executive dysfunction. We posit that an early onset tumor, sleep disorder and cognitive decline are adult manifestations of Mulvihill-Smith syndrome. PMID:19213035

Yagihashi, Tatsuhiko; Kato, Motoichiro; Izumi, Kosuke; Kosaki, Rika; Yago, Kaori; Tsubota, Kazuo; Sato, Yuji; Okubo, Minoru; Watanabe, Goro; Takahashi, Takao; Kosaki, Kenjiro

2009-03-01

394

Gastric cancer occurring in a patient with Plummer-Vinson syndrome: a case report.  

PubMed

Plummer-Vinson syndrome (sideropenic dysphagia) is characterized by dysphagia due to an upper esophageal or hypopharyngeal web in patients with chronic iron deficiency anemia. The main cause of dysphagia is the presence of the web in the cervical esophagus, and abnormal motility of the pharynx or esophagus is also found to play a significant role in this condition. This syndrome is thought to be precancerous because squamous cell carcinoma of hypopharynx, oral cavity or esophagus takes place in 10% of those patients suffering from this malady, but it is even more unusual that Plummer-Vinson syndrome should be accompanied by gastric cancer. We have reported here a case of a 43-year-old woman with Plummer-Vinson syndrome who developed stomach cancer and recovered after a radical total gastrectomy with D2 nodal dissection. PMID:16437616

Kim, Ki-Han; Kim, Min-Chan; Jung, Ghap-Joong

2005-11-28

395

Three Cases of Palatal Tics and Gilles De La Tourette Syndrome.  

PubMed

Five patients with palatal tics and Gilles de la Tourette syndrome have been previously reported. Little is known about the characteristics of palatal tics given that there are so few reports. On one hand, palatal tics may be rare. Alternatively, they may be less well recognized than repetitive eye blinking or sniffing, which are both obvious and, therefore, more often reported. We describe 3 patients with palatal tics and Gilles de la Tourette syndrome. We also review the 5 patients reported in the literature and explore whether there are characteristic features among this group of 8 cases. The 8 patients had the following features: (1) Personal history of other multiple motor/vocal tics, (2) the presence of typical Gilles de la Tourette syndrome comorbidities, (3) positive family history of tics and/or Gilles de la Tourette syndrome comorbidities, (4) the presence of audible "ear clicks," (5) younger age at onset (2 years). We suggest that palatal tics are underreported. PMID:25246300

Rizzo, Renata; Cath, Danielle; Pavone, Piero; Tijssen, Marina; Robertson, Mary M

2014-09-22

396

Dentition abnormalities in a Timothy syndrome patient with a novel genetic mutation: a case report.  

PubMed

The purpose of this paper was to present the case of a two-year-old male diagnosed with Timothy syndrome who presented with generalized enamel defects in the primary dentition. Timothy syndrome is an autosomal dominant condition characterized by a de novo missense mutation in the Cav1.2 L-type calcium channel CACNA1C. Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and autism. Craniofacial abnormalities reported include: low-set ears; flat nasal bridge; small upper jaw; thin upper lip; round face; and baldness at birth. Abnormalities in the dentition have been reported, including small, misplaced teeth with poor enamel and severe caries. At present, there is no thorough description of the dental abnormalities seen in a patient with Timothy syndrome. PMID:24960393

Papineau, Scott D; Wilson, Stephen

2014-01-01

397

SAPHO syndrome in an adolescent: a clinical case with unusual severe systemic impact.  

PubMed

SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome includes both dermatological and rheumatologic symptoms. Being a rare condition, the diagnosis is frequently late. The authors report a case of a 13-year-old boy diagnosed with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome with unusual severe systemic repercussions. The patient presented with acne conglobata, inability to walk due to pain and weakness and weight loss. Bone scintigraphy was suggestive of sacroiliitis, and lumbar spine x-ray showed signs of hyperostosis. His clinical state improved after treatment with nonsteroidal anti-inflammatory drugs, methotrexate, clindamycin, and isotretinoin. A review of the clinical aspects of this syndrome is presented, emphasizing how this underdiagnosed syndrome can lead to severe weight loss and significant functional and psychological impairment at an early age. PMID:24726464

Freira, Sílvia; Fonseca, Helena; Ferreira, Pedro Dias; Vasconcelos, Pedro; Fonseca, Joăo Eurico

2014-08-01

398

Gorlin-Goltz Syndrome: Case Report of a Rare Hereditary Disorder  

PubMed Central

Introduction. Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. Case Report. The present paper highlights the importance of diagnostic criteria and histopathology in early and prompt diagnosis which will lead to proper treatment and genetic counseling of the patient. Discussion. Gorlin-Goltz syndrome is about multisystem process comprising the triad of basal cell nevi, jaw keratocysts, and skeletal anomalies. A spectrum of other neurological, ophthalmic, endocrine and genital manifestations is known to be variably associated with this triad. Diagnosis of the syndrome is based on major and minor criteria. Conclusion. This paper emphasizes the importance of oral and maxillofacial health professionals in the early diagnosis of nevoid basal cell carcinoma syndrome and in a preventive multidisciplinary approach to provide a better prognosis to the patient. PMID:23050170

Agrawal, Ashutosh; Murari, Aditi; Vutukuri, Sunil; Singh, Arun

2012-01-01

399

Triple X Syndrome with Short Stature: Case Report and Literature Review  

PubMed Central

Background Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. It is mainly derived from maternal nondisjunctional errors during meiosis. To highlight the clinical features and diagnosis of triple X syndrome, we present a rare phenotype of the syndrome. Case Presentation A 5.9 year-old girl was admitted to our hospital because of short stature. Both her height and weight were below the 3rd percentile compared to the normal peers. She was found with mild motor and speech delay. Laboratory investigation showed low level of IGF-1 and zinc, elevated estradiol level and normal result of arginine provocation test. Conclusion Our data suggest that triple X syndrome should also be suspected in patients with short stature, elevated estradiol and low level of IGF-1, even with normal result of arginine provocation test. PMID:23056899

Li, Mingyan; Zou, Chaochun; Zhao, Zhengyan

2012-01-01

400

Sequential Supernumerary Teeth Development in a Non-Syndromic Patient; Report of a Rare Case  

PubMed Central

Isolated impacted supernumerary teeth are quite rare, but they can be seen associated with several syndromes such as cleidocranial dysostosis or Gardner’s syndrome. This article aims to discuss a case of sequential formation of supernumerary teeth with no other associated disease or syndrome. A 17-year-old Iranian male with 8 impacted supernumerary teeth was referred to the department of pediatric dental clinic at Shahid Beheshti Medical University in Tehran with a history of several impacted unerupted teeth. Repeated and periodical clinical and radiographic examinations revealed newly formed teeth buds in unusual dental ages. All extra teeth were associated with generalized enamel hypoplasia to some degree on their relative permanent adjacent teeth. The patient did not have any record of a systemic disease or any syndromic condition to relate his dental problem to. This rare condition involved repeated and continued formation of extra teeth out of the normal numbers and dental age evident in serial radiographs. PMID:24910667

Jafarian, Mohammad; Nazemi, Bahareh; Bargrizan, Majid; Ramezani, Jamileh; Ansari, Ghassem

2013-01-01

401

Unusual case of persistent Horner's syndrome following epidural anaesthesia and caesarean section  

PubMed Central

This is a rare case of persistent Horner's syndrome following epidural anesthesia and Caesarean section. A 33-year-old female presented with persistent ptosis and miosis following epidural anesthesia and Caesarian section several months prior. Magnetic resonance imaging (MRI)/magnetic resonance angiography (MRA) of head, neck, and chest were unremarkable. Medline search using terms Horner’s, epidural, spinal anesthesia, delivery, childbirth, Caesarian, and pregnancy identified 31 articles describing Horner's syndrome in obstetric epidural anesthesia, of which 11 were following Caesarean section. The increased incidence of Horner's syndrome in the setting of epidural anesthesia in pregnancy may be related to epidural venous engorgement and cephalic spread of the local anaesthetic, with disruption in the oculosympathetic pathway. It is important to include recent epidural anesthesia within the differential diagnosis of acute Horner's syndrome in a postpartum female. Rarely, the ptosis may be permanent and require surgical intervention. PMID:21836349

Goel, Shubhra; Burkat, Cat Nguyen

2011-01-01

402

Adult respiratory distress syndrome following aluminium phosphide ingestion. Report of 4 cases.  

PubMed

Four cases of adult respiratory distress syndrome (ARDS) following aluminium phosphide ingestion (ALP) are being reported. The dose of the intoxicant varied from 2 tablets (6.0 gm) to 3 tablets (9.0 gm). All patients had shock at admission and developed ARDS within 6 hours. The exhalation of Phosphine, (PH3) detected by positive silver nitrate paper test, was the possible noxious triggering factor in our cases. The cases are being reported because of their rare occurrence. PMID:2613620

Chugh, S N; Ram, S; Mehta, L K; Arora, B B; Malhotra, K C

1989-04-01

403

Scrub typhus as a possible aetiology of Guillain–Barré syndrome: two cases  

Microsoft Academic Search

Neurological complications of scrub typhus are reported to be rare. Peripheral nervous system involvement has been reported\\u000a in only one case. We present two cases of Guillan–Barré syndrome (GBS) associated with scrub typhus. In both cases, the findings\\u000a of an elevated indirect immunofluorescent antibody titer for Orientia tsutsugamushi and nerve conduction study showing sensory-motor polyneuropathy, have led us to believe

M.-S. Lee; J.-H. Lee; H.-S. Lee; H. Chang; Y.-S. Kim; K.-H. Cho; S.-H. Ahn; J.-H. Song; M. Yoo; J.-K. Han; H.-Y. Park

2009-01-01

404

Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.  

PubMed

Beare-Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin furrows, skin tags, craniosynostosis, Crouzonoid-like features in some cases and cloverleaf skull in others, anogenital anomalies, and prominent umbilical stump. Reported causes are an FGFR2 Tyr375Cys mutation in nine cases and an FGFR2 Ser372Cys mutation in one case. Here, we report on a second patient with the FGFR2 Ser372Cys mutation. PMID:18247426

Fonseca, Renata; Costa-Lima, Marcelo A; Cosentino, Viviana; Orioli, Ięda M

2008-03-01

405

Amniotic band syndrome with tethering of the spinal cord: a case-based update  

Microsoft Academic Search

Background  Amniotic band syndrome consists of a wide spectrum of clinical manifestations attributed to entanglement and disruption of\\u000a different developing parts of the embryo. Multiple asymmetric encephalocele and anencephaly have previously been reported\\u000a with amniotic band syndrome. Tethering of the spinal cord secondary to amniotic band constriction is exceedingly rare, and\\u000a this is the second reported case in the literature.\\u000a \\u000a \\u000a \\u000a \\u000a Case

Benedetta Pettorini; Naem Abbas; Shailendra Magdum

2011-01-01

406

Rare Appendicitis-Like Syndrome: The Case of the Obstructing Broccoli  

PubMed Central

The diagnosis of acute appendicitis can be somewhat obscure in a patient that presents with right lower quadrant abdominal pain. The advancement and ease of imaging have made CT scanning readily available in the emergency department. Management can be challenging when the patient has a high likelihood of appendicitis based on clinical suspicion and negative CT scan. The purpose of this case report is to demonstrate how an obstructing bezoar caused an appendicitis-like syndrome in a patient with negative CT scan and clinical diagnosis of acute appendicitis. This case report will discuss the appendicitis-like syndrome of an obstructing bezoar and an approach at management. PMID:24864147

Jones, Stephen; Narh-Martey, Patrick; Dhaliwal, Amanpreet; Persson, Jessica; Orr, Denis

2014-01-01

407

Bilateral pleural effusion with APLA positivity in a case of rhupus syndrome  

PubMed Central

Rhupus syndrome is a rare syndrome characterized by overlap of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Our patient was a diagnosed case of RA and developed SLE 2 years after. She was a middle-aged woman, presented with bilateral pleural effusion with exacerbation of skin and joint symptoms of SLE. We diagnosed the case as tubercular pleural effusion by positive Mycobacterium tuberculosis in bactec 460 culture. She had also anti-phospholipid antibody positivity without any symptoms and signs of thrombosis. PMID:25378850

Saha, Kaushik; Saha, Arnab; Mitra, Mrinmoy; Panchadhyayee, Prabodh

2014-01-01

408

A new case of Job's syndrome at the clinic: a diagnostic challenge.  

PubMed

Job's syndrome or Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent soft tissue infections, coarse face, skeletal and vascular abnormalities, and markedly high levels of Immunoglobulin E. Eczema that resembles atopic dermatitis but is refractory to traditional treatment and severe and recurrent bacterial pneumonias often recognized during childhood. Early diagnosis and treatment prevent progressive pulmonary sequellae and increase survival. About 200 cases of HIES has been reported worldwide. The authors report a new case of HIES with one of the worst pulmonary sequellae found in the literature on this subject and review this infrequent topic. PMID:24560409

Cruz-Portelles, A; Estopińan-Zuńiga, D

2014-01-01

409

Oculomotor Nerve Palsy following Cardiac Tamponade with Churg-Strauss Syndrome: A Case Report  

PubMed Central

A 57-year-old man with a history of more than 10 years of bronchial asthma and chronic sinusitis complained of double vision which developed 18 days after cardiac tamponade with eosinophil-rich fluid (eosinophils 30%). He had oculomotor nerve palsy, and a blood test revealed eosinophilia (12,700/mm3) and elevation of both C-reactive protein and rheumatoid factor. He was diagnosed as having Churg-Strauss syndrome. His symptoms were relieved by corticosteroid therapy. Our case and previous cases in the literature revealed that oculomotor nerve palsy in Churg-Strauss syndrome is associated with pupil involvement and may be relieved by corticosteroid treatment. PMID:22125528

Suganuma, Kazuki; Hashimoto, Takao; Sato, Hiromasa; Suzuki, Tomohiro; Sakurai, Shunpei

2011-01-01

410

A case report of cavernous sinus syndrome in a patient with Takayasu's arteritis.  

PubMed

Neurologists must entertain a broad differential diagnosis when considering a patient with cavernous sinus syndrome, including neoplasm, trauma, vascular causes, inflammatory processes, and infections. We report the case of a 37-year-old woman initially diagnosed with cavernous sinus syndrome, where subsequent investigations revealed findings of Takayasu's arteritis, a large vessel vasculitis. The patient also tested positive for perinuclear antineutrophil cytoplasmic antibodies, suggesting the possibility of a vasculitic spectrum disorder although no clinical features of Wegener's granulomatosis were present. Criteria for Takayasu's arteritis and its protean neurologic manifestations are reviewed. This case highlights the spectrum of vasculitic conditions that may be associated with cavernous sinus inflammation. PMID:24827146

Rotstein, Dalia L; Tyndel, Felix J; Tang-Wai, David F

2014-09-01

411

Cystic fibrosis and beckwith-wiedemann syndrome: a case report.  

PubMed

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

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

2015-03-01

412

Cystic Fibrosis and Beckwith-Wiedemann Syndrome: A Case Report  

PubMed Central

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

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

2015-01-01

413

A rare case of fish odor syndrome presenting as depression  

PubMed Central

A young lady presents to the psychiatry out-patient department with depressive symptoms. Evaluation revealed long standing stressor in the form of a foul odor emanating from her body and over a period of time resulting in social withdrawal and depression with significant impairment of day-to-day functioning. A diagnosis of trimethylaminurea (fish odor syndrome) and adjustment disorder was arrived at. Careful empathetic handling with psychoeducation, behavioral and cognitive counseling and a short course of antidepressants helped her improve significantly with return to almost normal functioning. PMID:24891709

Khan, Shahbaz Ali; Shagufta, K.

2014-01-01

414

[Zollinger-Ellison syndrome. Report of a case].  

PubMed

A 61 years old male with Z-E syndrome is reported. He presented gastrointestinal bleeding, abdominal pain, slightly elevated gastrin and hypoglycemia. He underwent total gastrectomy, a non-resectable tumor of the tail of the pancreas with liver metastasis were found. A biopsy of the liver metastasis and the gastric mucosa were reviewed under the light and the transmission electronic microscopes. The gastric mucosa showed abundant parietal cells. The metastatic hepatic tissue was poorly differentiated under the light microscope and the electron micrographs revealed tissue resembling pancreatic islands of Langerhans with granules in the cytoplasm, this means that the neoplasm originated from APUD cells. PMID:7336067

Jiménez Cardoso, J M; Nava Negrete, A; Morales, P; Franco, M; Wusterhaus, A H

1981-01-01

415

Jarcho–Levin syndrome with diastematomyelia: A case report and review of literature  

PubMed Central

Jarcho–Levin syndrome (JLS) is a type of segmental costovertebral malformation. It is a congenital disorder characterized by a variety of vertebral and costal anomalies. Only four cases of Jarcho–Levin syndrome with diastematomyelia have been reported in the literature. We report the fifth case of Jarcho–Levin syndrome with diastematomyelia and review the literature. A one-and-half-year-old male child born of full-term normal delivery was brought with complaints of progressively increasing weakness in lower limbs with inability to stand since 1 month. Radiological examination revealed irregular fusion of ribs, spina bifida, and diastematomyelia at L2–L3 vertebral level. The patient underwent L1 to L3 laminectomy. A large bony spur was identified and excised with microrongeurs. Spondylocostal dysplasia may be associated with diastematomyelia or other surgically correctable occult intraspinal anomalies which may be diagnosed in early asymptomatic stage by magnetic resonance image screening of spine. PMID:22408667

Kansal, Ritesh; Mahore, Amit; Kukreja, Sanjay

2011-01-01

416

Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report.  

PubMed

Abstract 46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY karyotype. Most of the studied cases presented with leak of secondary sex characteristics and primary amenorrhea during adolescence. Laboratory findings reveal hypergonadotropic hypogonadism. Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the SRY gene and diagnosed to have Swyer syndrome. We highlight the importance of karyotype analysis in patients with delayed puberty and primary amenorrhea. Once the diagnosis of 46,XY complete gonadal dysgenesis is established, early laparoscopic removal of the dysgenetic gonads is crucial to prevent the development of gonadal malignancy. PMID:25153220

Mutlu, Gül Yesiltepe; K?rm?z?bekmez, Heves; Ayd?n, Hatip; Çetiner, Handan; Moral?o?lu, Serdar; Celayir, Ay?enur Cerrah

2015-01-01

417

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

PubMed Central

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

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

2011-01-01

418

Food protein-induced enterocolitis syndrome: report of one case.  

PubMed

We report a 76-day old infant who got diarrhea within the first week of life. He was treated as acute gastroenterocolitis and kept on feeding with regular infant formula. Because the symptoms persisted, the feeding formula was shifted to soy-based formula then to the highly-hydrolyzed formula and got improvement. But severe bloody diarrhea, vomiting, dehydration and fever developed after feeding with regular infant formula again. Based on the history and clinical presentations, cow's milk allergy was suspected. He received total parenteral nutrition for 5 days then fed with highly-hydrolyzed formula with slowly increasing amount. Thereafter tests for total eosinophil counts, total serum IgE, milk specific IgE antibodies and milk extract skin prick test were all unremarkable. Under the impression of food protein-induced enterocolitis syndrome (FPIES), a double-blind placebo-controlled food challenge (DBPCFC) with infant formula was performed. Regular infant formula induced severe vomiting, diarrhea, fever, acidosis and elevation of absolute neutrophil counts (ANC) of peripheral blood by 27,640/mm3. Based on the laboratory findings and challenge results, the patient fit the diagnostic criteria of food protein-induced enterocolitis syndrome. PMID:11270187

Marr, H Y; Chen, W C; Lin, L H

2001-01-01

419

Diode laser photocoagulation in PHACES syndrome hemangiomas: a case series  

NASA Astrophysics Data System (ADS)

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

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

2014-01-01

420

[Prenatal diagnosis of a case of Pallister-Killian syndrome].  

PubMed

OBJECTIVE To study the clinical and genetic characteristics of Pallister-Killian syndrome and improve the diagnosis for this rare chromosomal disease. METHODS Standard G-banding was carried out for the patient and his parents. Single nucleotide polymorphism array (SNP array) for copy number detection was applied to identify chromosome microdeletion or microduplication. Interphase fluorescence in situ hybridization (FISH) and cytogenetic analyses of fibroblast cells were performed based on the Results of array. RESULTS The patient's G-banded karyotype has turned out to be 46,XY, whilst his parents were both normal. A duplication of the whole short arm of chromosome 12 was detected by SNP array in the child. The result of interphase FISH performed on interphase chromosomes derived from peripheral blood cells was nuc ish (RP11-104 b5, a19 RP11-956) × 4 [19/100?, whilst the karyotype of fibroblast cells was 47,XY,+i(12)(p10)[44]/46,XY[56]. CONCLUSION By combining with clinical characteristics, SNP array, skin fibroblasts karyotype analysis and FISH can diagnose Pallister-Killian syndrome effectively. PMID:25636105

Xi, Hui; Wang, Hua; Jia, Zhenjun; Zhou, Yuchun; Yu, Hong; Liu, Jing; Wu, Lingqian

2015-02-10

421

Choriocarcinoma syndrome: a case report and a literature review.  

PubMed

A 35-year-old Qatari man presented to our hospital with a 4-month history of mild abdominal pain, weight loss, and jaundice. He was found to have central intra-abdominal mass and a single testis in the scrotum. His investigations showed cholestatic jaundice and very high level of ? -HCG (1131379?IU/L). CT scans of the chest and abdomen showed a huge pelvic-abdominal mass with extensive retroperitoneal lymphadenopathy, in addition to liver and lung metastases. CT-guided Tru-Cut biopsy of the mass showed mixed germ cell tumor. Chemotherapy was refused by the patient and his family. In the following days, the patient bled from his liver metastases leading to hemorrhagic shock, hemorrhage from metastatic sites of choriocarcinoma containing tumors is named choriocarcinoma syndrome. He was transferred to the medical intensive care unit, where he was intubated and resuscitated. Embolization of the right hepatic artery was done, but failed to control the bleeding, which continued with development of disseminated intravascular coagulopathy and a severe abdominal compartment syndrome, and eventually the patient died. PMID:23819084

Baagar, Khaled; Khan, Fahmi Yousef; Alkuwari, Einas

2013-01-01

422

Ankylosing spondylitis associated with Sweet’s syndrome: a case report  

PubMed Central

Introduction Sweet’s syndrome is an acute neutrophilic dermatosis characterized by a diffuse dermal infiltrate of mature neutrophils. In most cases, it occurs as an isolated phenomenon (idiopathic Sweet’s syndrome) but it can be drug induced or associated with a variety of underlying diseases such as infections, neoplasms, and chronic inflammatory diseases. The association between Sweet’s syndrome and ankylosing spondylitis is rare. Only a few cases have been reported in the literature. We report a new case in which we describe an outbreak of acute neutrophilic dermatosis revealing ankylosing spondylitis. Case presentation A 33-year-old Moroccan man presented with large-joint polyarthralgia, inflammatory pain in his buttocks and lower lumbar spine, fever and skin lesions. On examination, the patient had a low-grade fever, six tender but not swollen joints, limitation of motion of the lumbar spine, and painful erythematous maculopapules over his face, neck, and hands. Laboratory tests showed hyperleukocytosis, and elevated erythrocyte sedimentation rate and C-reactive protein. The immunological tests and infectious disease markers were negative. Investigations for an underlying neoplastic disease remained negative. Magnetic resonance imaging showed a bilateral sacroiliitis. Skin biopsy findings were consistent with Sweet’s syndrome. The diagnosis of Sweet’s syndrome associated with ankylosing spondylitis was established. Nonsteroid anti-inflammatory drugs were started and the patient showed rapid clinical and biological improvement. Conclusion Three observations of the association between Sweet’s syndrome and spondylarthropathy have been reported in the literature. The cause of this association remains unclear. Some hypotheses have been developed, but further studies are needed to confirm or refute them. PMID:23305505

2013-01-01

423

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

PubMed Central

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

2014-01-01

424

The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation  

PubMed Central

Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15. Here, we report the case of a 32-day-old Korean male with HDR syndrome. He was presented due to repeated seizures over previous 3 days. The patient was born after 40 weeks of gestation with birth weight of 2930 g, and was the first-born baby of healthy Korean parents. Hypoparathyroidism was first noticed due to seizure. A multicystic left dysplastic kidney and vesicoureteral reflux were detected by ultrasound after birth. Auditory brainstem response (ABR) testing revealed that the patient had moderate sensorineural deafness, with hearing losses of 80 dB at the mid and higher frequencies for both ears. Echocardiography finding revealed secundum atrial septal deftect. Based on biochemical results and clinical findings, a presumptive diagnosis of HDR syndrome was made. GATA3 mutation analysis identified a heterozygous deletion, c.153del (p.Phe51Leufs*144) in exon 1 causing a frameshift mutation, which is a novel de novo mutation. Therefore, we suggest that HDR syndrome should be considered in the differential diagnosis in symptomatic or asymptomatic patients with hypoparathyroidism, and that renal ultrasound or ABR testing be performed to prevent a missed diagnosis. This is the first report on Korean patient with confirmed HDR syndrome with novel mutation. PMID:25510779

Kim, Gu-Hwan; Yoo, Han-Wook

2015-01-01

425

The case for including Attenuated Psychotic Symptoms Syndrome in DSM-5 as a psychosis risk syndrome  

PubMed Central

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 15 years 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 in DSM-5 and report new preliminary findings on DSM-IV diagnoses in current clinical use for these patients and on results of diagnostic interviews in unselected volunteers. The main evidence supporting inclusion is: (1) the patients are currently ill, (2) the patients are at high risk for getting worse, (3) no DSM-IV diagnosis accurately captures their current illness or future risk, (4) the diagnosis has been made with reliability and validity in the research setting, and (5) placement in DSM-5 would help promote the needed treatment and prevention research to enable articulation of a standard of care to benefit these patients and their families. Potential harms can be minimized by patient, family, and provider education. It will be important to demonstrate through well-designed field trials whether the diagnostic criteria can be used with reliability in everyday clinical practice. PMID:20832249

Woods, Scott W.; Walsh, Barbara C.; Saksa, John R.; McGlashan, Thomas H.

2011-01-01

426

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

ERIC Educational Resources Information Center

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

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

2013-01-01

427

Klinefelter's syndrome and rheumatoid arthritis report of a case and review of the literature  

Microsoft Academic Search

Our case report describes a patient with Klinefelter's syndrome (KFS) associated with rheumatoid arthritis (RA). He had active RA in 1985 but his arthritis almost subsided in 1993 without intensive treatments for RA as well as KFS. Recently, the lower levels of testosterone in male RA patients, especially at the active phase has been reported. However, it is still questionable

S. Kobayashi; S. Yamamoto; M. Tanaka; H. Hashimoto; S. Hirose

1994-01-01

428

A Case of Shwachman-Diamond Syndrome Distinguished from Celiac Disease  

PubMed Central

Shwachman-Diamond syndrome (SDS) is a rare, inherited, autosomal recessive disease characterized by exocrine pancreatic dysfunction, skeletal problems and varying degrees of cytopenias resulting in bone marrow dysfunction. We report the first case of SDS that was difficult to distinguish from celiac disease because this is a valuable example of the variety in SDS presentation. PMID:25396035

Hagiwara, Shin-ichiro; Watanabe, Arata

2012-01-01

429

A case of neurosarcoidosis that presented with symptoms of Guillain–Barré syndrome  

PubMed Central

This case report is of a patient who presented with clinical features suggestive of Guillain–Barré syndrome, who on investigation was found to have neurosarcoidosis. The patient was treated with high-dose corticosteroids and physiotherapy and he improved in condition substantially over 1 month. Neurosarcoidosis and its various presentations are discussed in the literature review. PMID:22700608

Oldroyd, A; Dawson, T; Nixon, J

2011-01-01

430

Case Study: A New Infection-Triggered, Autoimmune Subtype of Pediatric OCD and Tourette's Syndrome  

Microsoft Academic Search

A review of clinical observations and literature reports leads to the hypothesis that, via a process analogous to Sydenham's chorea, infections with group A ?-hemolytic streptococci, among others, may trigger autoimmune responses that cause or exacerbate some cases of childhood-onset obsessive-compulsive disorder (OCD) or tic disorders (including Tourette's syndrome). If this hypothesis is correct, then immunological treatments should lead to

Albert J. Allen; Henrietta L. Leonard; Susan E. Swedo

1995-01-01

431

The Role of Prosody in a Case of Foreign Accent Syndrome (FAS)  

ERIC Educational Resources Information Center

Foreign accent syndrome (FAS) is a rare disorder characterized by the emergence of a perceived foreign accent following brain damage. The symptomotology, functional bases, and neural substrates of this disorder are still being elucidated. In this case study, acoustic analyses were performed on the speech of a 46-year old monolingual female who…

Katz, William F.; Garst, Diane M.; Levitt, June

2008-01-01

432

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

PubMed Central

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

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

2014-01-01

433

The Impact of Video Instruction: A Case Study of a Student with Asperger Syndrome  

ERIC Educational Resources Information Center

This case study of a preschool boy with Asperger's syndrome focuses on the use of video instruction for the purpose of teaching skills required for participation in classroom activities. After the classroom teacher identified four skill areas needing improvement (circle time, sharing, choosing centers, and singing), short video clips of…

Crandell, Susan; Johnson, Celia E.

2009-01-01

434

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

ERIC Educational Resources Information Center

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

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

2008-01-01

435

Paradoxical response to intravenous immunoglobulin in a case of Parvovirus B19-associated chronic fatigue syndrome.  

PubMed

We describe a case of chronic fatigue syndrome (CFS) associated to Parvovirus B19 infection where administration of intravenous immunoglobulins (IVIG), previously reported as effective, induced a paradoxical clinical response and increased viral replication. The indication of IVIG administration in the treatment of Parvovirus B19-associated CFS should be carefully reconsidered. PMID:25542471

Attard, Luciano; Bonvicini, Francesca; Gelsomino, Francesco; Manfredi, Roberto; Cascavilla, Alessandra; Viale, Pierluigi; Varani, Stefania; Gallinella, Giorgio

2015-01-01

436

Hydrothorax as the sole manifestation of ovarian hyperstimulation syndrome: unusual case and literature review.  

PubMed

An unusual case of a unilateral massive hydrothorax after IVF treatment is reported in a 41-year-old patient, which developed as the only manifestation of ovarian hyperstimulation syndrome. The literature on such rare presentation is also reviewed to highlight its diagnostic features and prognosis. PMID:17579985

Khairy, Mohamed; El-Toukhy, Tarek; Emovon, Emanuel; Khalaf, Yacoub

2007-06-01

437

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

ERIC Educational Resources Information Center

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

McCullough, Michelle J.

2012-01-01

438

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

ERIC Educational Resources Information Center

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

Lee, Yeung Chung

2008-01-01

439

The Borderland of Autism and Rett Syndrome: Five Case Histories to Highlight Diagnostic Difficulties.  

ERIC Educational Resources Information Center

Case studies of 4 females and 1 male, aged 6-25, with pervasive developmental disorders are described. All met standard diagnostic criteria for autism and showed many Rett syndrome symptoms. It is concluded that there is considerable overlap between the 2 disorders and that symptomatic similarities might mirror common pathopsychological…

Gillberg, Christopher

1989-01-01

440

Y chromosome mosaicism and occurrence of gonadoblastoma in cases of Turner syndrome and amenorrhoea  

Microsoft Academic Search

In the present study, 73 cases with a clinical diagnosis of Turner syndrome, or with primary or secondary amenorrhoea without frank Turner phenotype, were evaluated for presence of low level Y chromosome mosaicism using molecular methods. Fluorescence in-situ hybridization for centromere and q arm of the Y chromosome and nested polymerase chain reaction for the sex determining region on Y

Deepak Modi; Deepa Bhartiya

2007-01-01

441

Sexology and Social Work in a Case of Klinefelter (47,XXY) Syndrome.  

ERIC Educational Resources Information Center

A man with mental retardation, in detention for five years because of sex offenses with preadolescent boys, was not only diagnosed as having Klinefelter syndrome when a social worker read suspected the possibility and arranged for a chromosome test. The importance of a complete medical work-up is emphasized in such cases. (JDD)

Herzog, Daniel; Money, John

1993-01-01

442

Two French-Speaking Cases of Foreign Accent Syndrome: An Acoustic-Phonetic Analysis  

ERIC Educational Resources Information Center

Foreign accent syndrome (FAS) is an acquired neurologic disorder in which an individual suddenly and unintentionally speaks with an accent which is perceived as being different from his/her usual accent. This study presents an acoustic-phonetic description of two Quebec French-speaking cases. The first speaker presents a perceived accent shift to…

Roy, Johanna-Pascale; Macoir, Joel; Martel-Sauvageau, Vincent; Boudreault, Carol-Ann

2012-01-01

443

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

SciTech Connect

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

NONE

1995-07-03

444

Neuroepidemiologic Trends in 105 US Cases of Pediatric Opsoclonus-Myoclonus Syndrome  

Microsoft Academic Search

Opsoclonus-myoclonus syndrome (OMS) is a rare, autoimmune neurological disorder that is poorly rec- ognized and undertreated. Neuroblastoma is found in one half of the cases. Because of the high incidence of spontaneous regression of neuroblastoma, it is unknown whether not finding a tumor means there was none. To define demographic trends and the standard of care in the first large

Elizabeth D. Tate; Tyler J. Allison; Michael R. Pranzatelli; Steven J. Verhulst

2005-01-01

445

Regression of Urrets-Zavalia Syndrome After Deep Lamellar Keratoplasty for Keratoconus: A Case Study  

PubMed Central

We report a case of pharmacologic regression of Urrets-Zavalia syndrome, following deep lamellar keratoplasty for severe keratoconus. Sympatholytic and parasympathomimetic drops were administered and a progressive reduction of mydriasis and restoring of pupillary kinetics were observed. Four years after surgery, it was resulting in only slight residual anisocoria. PMID:19516912

Spadea, Leopoldo; Viola, Mariangela; Viola, Giovanna

2008-01-01

446

Difficulties diagnosing the multiple personality syndrome in a death penalty case  

Microsoft Academic Search

The problems involved in diagnosing the multiple personality syndrome in a rape-murder suspect are illustrated by the case of Kenneth Bianchi and the Hillside Stranglings. Hypnotic investigations of his amnesia revealed “Steve,” who admitted guilt for the rape-murders. “Billy” later emerged, claiming responsibility for thefts and forgeries. Attempts to evaluate Kenneth Bianchi with methods used in therapy yielded an original

Ralph B. Allison

1984-01-01

447

Paget von Schroetter Syndrome Secondary to Exotic Dancing: A Case Study  

Microsoft Academic Search

Axillary vein thrombosis, or Paget von Schroetter syndrome, is a rare clinical condition. It is associated with several thrombogenic states and numerous sporting activities involving excessive use of the arm. We report one such case associated with exotic dancing. In societies where dancing involves excessive arm movement, the physician must be aware of this condition to permit early diagnosis and

Dale Maharaj; Michael Ramdass; Andrew Perry; Vijay Naraynsingh

2003-01-01

448

Trousseau's Syndrome Treated with Long-Term Subcutaneous Lepirudin (Case Report and Review of the Literature)  

Microsoft Academic Search

We report here a case of recurrent venous and arterial thromboembolism, Trousseau's syndrome, in a cancer patient who developed heparin-induced thrombocytopenia. She was treated with lepirudin and after establishing the patient-specific half-life for subcutaneous lepirudin, she was successfully maintained on this therapy for more than eight months.

Astrid C. M. Andreescu; Mary Cushman; Julia M. Hammond; Marie E. Wood

2001-01-01

449

Branchi-oculo-facial syndrome: a case report to highlight recent genetic considerations.  

PubMed

Branchio-oculo-facial syndrome (BOFS) is a rare entity described during the last century which has been recently linked to mutations of the gene encoding for the transcription factor named 'TFAPA2'. We report here a sporadic case of BOFS with a partial phenotype caused by a de novo mutation of this gene and discuss recent genetic findings. PMID:22537416

Abbo, Olivier; Bieth, Eric; Ballouhey, Quentin; Vaysse, Frederic; Just, Walter; Galinier, Philippe

2012-11-01

450

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

PubMed Central

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

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

2014-01-01

451

Exceptional Rule Learning in a Longitudinal Case Study of Williams Syndrome: Acquisition of Past Tense  

ERIC Educational Resources Information Center

Conflicting reports of language ability in Williams syndrome (WS) are confusing and may hinder accurate clinical decisions with respect to therapeutic services and educational placements for children with WS.This longitudinal case study examined the acquisition of regular and irregular past tense verbs in a child with WS. The development of…

Jacobson, Peggy F.; Cairns, Helen Smith

2010-01-01

452

Polysplenia Syndrome Detected after Chest Symptoms in Two Adult Patients: Case Report and Review of Literature  

PubMed Central

Summary Background Polisplenia syndrome (PSS) is a rare subtype of heterotaxy syndrome and means ambiguous location of the major thoracic and abdominal organs with vascular anomalies and multiple spleens. We reported on the findings of computed tomography (CT) of PSS in adults, detected incidentally. Case Report Two woman underwent a CT examination of the thorax for different thoracic pathologies. There were common abnormalities such as hyparterial bronchi and absence of middle lobe fissure on CTscans suggesting heterotaxy syndrome. Therefore, the abdominal CTs were performed to detect the accompanying abdominal anomalies. Our two cases defined as PSS were diagnosed with multiple spleens in the normal location in the abdomen. The left-dominant liver and short pancreas with agenesis of the pancreatic tail and lateral part of the body were detected on CT scan. In the first case, the vascular abnormalities were as follows: variant entrance of the main portal vein into the liver and atypically located superior mesenteric vein (SMV) joining with the splenic vein to form the portal vein. In the second case, the preduodenal portal vein and hemiazygos continuation with interruption of the hepatic segment of the inferior vena cava (IVC) were the vascular anomalies. The bowels were malrotated in the second case. Conclusions Although such cases are usually admitted as abdominal emergency, our two cases were detected during examinations for thoracic and cardiac pathologies. The knowledge and awareness of PSS can be helpful to diagnose pathology and plan surgical procedures. PMID:25237401

Y?lmaz, Güliz; Akp?nar, Süha H.; Al?c?o?lu, Banu

2014-01-01

453

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

PubMed

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

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

2014-09-14

454

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

PubMed Central

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

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

2014-01-01

455

[Peripartum cardiomyopathy and preeclampsia complicated with HELLP syndrome--a case report].  

PubMed

Peripartum cardiomyopathy (PC) and preeclampsia with HELLP syndrome are serious complications of pregnancy, but the coincidence of both in one pregnancy is extremely rare. Here, we report a case of 32-year-old primipara who in 35th Hbd presented for the first time in her life symptoms of severe heart failure (HF) in NYHA class III/IV. In 37th Hbd the diagnosis of PC was established based on clinical status and echocardiographic examination, which demonstrated a dilatation of heart chambers and impaired left ventricular systolic function with decreased ejection fraction (EF) 17%. In 37th Hbd she developed symptoms of preeclampsia complicated with HELLP syndrome (hemolysis, elevated liver enzymes, low platelets) and further a DIC syndrome as well. Because the patient was in critical condition and the foetus' life was threatened the pregnancy was terminated with urgent cesarean section. Then the patient developed shock, respiratory insufficiency and increasing renal failure. Successful treatment, included administration of pressor amines, respirator, hemodialyses, multiple fresh frozen plasma and blood transfusions. The symptoms of HELLP syndrome resolved by 9th day of treatment. Although optimal treatment of HF was administered with significant clinical improvement, the normalization of left ventricle systolic function was not observed. At 2 and 13 months follow-up, EF remained low and was 34 and 36% respectively. This allows to diagnose persistent PC. Based on the case, the issues of etiopathogenesis, treatment, prognosis and the risk of recurrence of PC and HELLP syndromes in a possible pregnancy are discussed. PMID:18416298

Bienias, Piotr; Ciurzy?ski, Micha?; Krzemie?-Wiczy?iska, Swiet?ana; Mikaszewska-Sokolewicz, Ma?gorzata; Mayzner-Zawadzka, Ewa; Bablok, Leszek; Liszewska-Pfejfer, Danuta

2006-10-01

456

Apert’s Syndrome: Report of a New Case and its Management  

PubMed Central

In this article, an interesting case of Apert syndrome in a 14-year-old boy with characteristic craniosynostosis, acrocephaly, midface hypoplasia, pharyngeal attenuation, ocular manifestations, and syndactyly of the hands and feet is presented. The case is discussed in the light of relevant literature. A precise clinical differentiation must be made since considerable overlap of the features of various other syndromes could give rise to difficulties in diagnosing this condition. Besides detection and timely recognition of the syndrome to allow adequate dental care, screening at periodic intervals is merited to improve the overall quality of life of these patients. Clinical relevance This paper highlights the importance of the dentist as well as the specialist in the recognition and oral care of children with this syndrome.Children with teeth of unusual anatomy present a challenge for conventional dentistry.It is important for a pedodontist to evaluate and intervene the malrelationship of the jaws to reduce the complexity of further orthodontic treatment. Objectives statement: The reader should understand the clinical implications of recognition of this syndrome and provision of early treatment, with a purpose to reducing the duration and complexity of further treatment. PMID:25206089

Dixit, Shweta; Singh, Asha; GS, Mamatha; S Desai, Rajiv; Jaju, Prashant

2008-01-01

457

Unilateral morning glory optic disc anomaly in a case with Down syndrome  

PubMed Central

Background This case is unique because it is the first reported case of Down syndrome with morning glory optic disc anomaly in literature. Case presentation A 15-year-old girl with features of Down syndrome presented to the Clinic of Ophthalmology for a regular ophthalmologic examination. Her best corrected visual acuity was 20/50 in the right eye and 20/20 in the left eye. The fundus examination revealed findings compatible with unilateral morning glory optic disc anomaly in the right eye. The patient underwent a complete ophthalmologic and systemic evaluation to explore possible associated findings. Conclusion This case report emphasizes the importance of ophthalmic screening-examinations in Down children to rule out any vision relevant pathology. PMID:24725623

2014-01-01

458

Protein S Deficiency and an Adult Case with Moyamoya Syndrome that Presented with Primary Intraventricular Haemorrhage  

PubMed Central

Background: Moyamoya syndrome associated with protein S deficiency is rarely encountered and is usually reported in paediatric cases with cerebral ischaemia. Case Report: A 32-year-old woman had symptoms of sudden-onset severe headache, projectile vomiting, impaired consciousness, and slight neck stiffness. The computed tomography scan of her brain showed primary intraventricular haemorrhage, and the subsequent four vessel cerebral angiographies revealed stage 3 to 4 Moyamoya disease according to Suzuki and Takaku’s angiographic classification. The coagulation profile showed the presence of protein S deficiency. The patient was treated with external ventricular drainage and conservative management until blood clot resolution. The patient was discharged with normal neurological examination findings after her initial impaired consciousness and orientation defect gradually recovered. Conclusion: This case report would alert physicians to the possible coexistence of Moyamoya syndrome and protein S deficiency, even in adult cases presenting with primary intraventricular haemorrhage. PMID:25207193

Çevik, Betül; Acu, Berat; Aksoy, Dürdane; Kurt, Semiha

2014-01-01

459

An intractable case of Hermansky-Pudlak syndrome.  

PubMed

A 52-year-old Japanese man with congenital amblyopia and oculocutaneous albinism was admitted to our hospital. Chest CT showed reticular opacities and traction bronchiectasis without honeycombing. Specimens obtained by a video-assisted thoracoscopic surgery showed patchy chronic fibrotic lesions. We diagnosed him with Hermansky-Pudlak syndrome (HPS). A mutation in the HPS1 gene was detected, and the diagnosis was confirmed. The patient was treated with prednisolone, pirfenidone, and azathioprine, but he nevertheless died within four months. Autopsy lung specimens showed diffuse alveolar damage suggesting comparatively rapid deterioration, although this presentation was not typical of an acute exacerbation. These pathological changes may be a possible progression pattern in HPS patients. PMID:25400188

Kanazu, Masaki; Arai, Toru; Sugimoto, Chikatoshi; Kitaichi, Masanori; Akira, Masanori; Abe, Yuko; Hozumi, Yutaka; Suzuki, Tamio; Inoue, Yoshikazu

2014-01-01

460

19q13.32 microdeletion syndrome: Three new cases.  

PubMed

A previous report described a unique phenotype associated with an apparently de novo 732 kb 19q13.32 microdeletion, consisting of intellectual disability, facial asymmetry, ptosis, oculomotor abnormalities, orofacial clefts, cardiac defects, scoliosis and chronic constipation. We report three unrelated patients with developmental delay and dysmorphic features, who were all found to have interstitial 19q13.32 microdeletions of varying sizes. Both the previously reported patient and our Patient 1 with a larger, 1.3-Mb deletion have distinctive dysmorphic features and medical problems, allowing us to define a recognizable 19q13.32 microdeletion syndrome. Patient 1 was hypotonic and dysmorphic at birth, with aplasia of the posterior corpus callosum, bilateral ptosis, oculomotor paralysis, down-slanting palpebral fissures, facial asymmetry, submucosal cleft palate, micrognathia, wide-spaced nipples, right-sided aortic arch, hypospadias, bilateral inguinal hernias, double toenail of the left second toe, partial 2-3 toe syndactyly, kyphoscoliosis and colonic atony. Therefore, the common features of the 19q13.32 microdeletion syndrome include facial asymmetry, ptosis, oculomotor paralysis, orofacial clefting, micrognathia, kyphoscoliosis, aortic defects and colonic atony. These findings are probably related to a deletion of some combination of the 20-23 genes in common between these two patients, especially NPAS1, NAPA, ARHGAP35, SLC8A2, DHX34, MEIS3, and ZNF541. These candidate genes are expressed in the brain parenchyma, glia, heart, gastrointestinal tract and musculoskeletal system and likely play a fundamental role in the expression of this phenotype. This report delineates the phenotypic spectrum associated with the haploinsufficiency of genes found in 19q13.32. PMID:25230004

Castillo, Angela; Kramer, Nancy; Schwartz, Charles E; Miles, Judith H; DuPont, Barbara R; Rosenfeld, Jill A; Graham, John M

2014-01-01

461

Blue Rubber-Bleb Nevus Syndrome: Report of a Familial Case with a Dural Arteriovenous Fistula  

Microsoft Academic Search

Summary: We report a case of a 45-year-old woman known to have a familial form of blue rubber-bleb nevus syndrome (BRBNS). The patient developed severe occipital headaches and bilateral retroauricular bruits. Cerebral angiography showed a large dural arteriovenous fistula in the torcular region. Central nervous system involvement in BRBNS is not often reported, and most cases of BRBNS are sporadic.

Silvia Carvalho; Vieira Barbosa; Nuno Santos; Egidio Machado

462

A report of a probable case of familial Guillain Barre syndrome  

PubMed Central

Although it is a sporadic disease, few studies have reported cases of Guillain Barre Syndrome (GBS) in families which postulate a genetic susceptibility. Human leukocyte antigen (HLA) typing is an area of discussion in GBS though none of them are considered definitive. In recent years, more studies have evaluated HLA typing in sporadic cases while rarely it has been assessed in familial ones. We report a woman and her daughter experiencing GBS and their HLA typing in a 2-year interval. PMID:23349598

Barzegar, Mohammad; Rouhi, Amir Hossein Jafari; Farhoudi, Mehdi; Sardashti, Sara

2012-01-01

463

Thermal environment and sudden infant death syndrome: case-control study  

Microsoft Academic Search

OBJECTIVE--To compare the thermal environment of infants who died of the sudden infant death syndrome with that of age matched control infants. DESIGN--Case-control study. Infants who died were matched with two controls, one for age and one for age and birth weight. Thermal measurements were conducted at the death scene for cases and at the scene of last sleep for

A. L. Ponsonby; T. Dwyer; L. E. Gibbons; J. A. Cochrane; M. E. Jones; M. J. McCall

1992-01-01

464

Enterolith causing acute afferent loop syndrome after Billroth II gastrectomy: a case report  

PubMed Central

Summary: Enterolith is a rare cause of afferent loop obstruction following Billroth II gastrectomy. We report a case of acute afferent loop syndrome (ALS) due to a huge enterolith, necessitating prompt surgery. The clinical pattern may mimic acute cholangitis and/or pancreatitis. Delayed diagnosis may result in severe complications such as bowel ischemia or perforation. Only 14 reported cases of enterolith causing afferent loop obstruction were found in the English literature. PMID:23837955

CARTANESE, C.; CAMPANELLA, G.; MILANO, E.; SACCŇ, M.

2013-01-01

465

Risk factors for operated carpal tunnel syndrome: a multicenter population-based case-control study  

Microsoft Academic Search

BACKGROUND: Carpal tunnel syndrome (CTS) is a socially and economically relevant disease caused by compression or entrapment of the median nerve within the carpal tunnel. This population-based case-control study aims to investigate occupational\\/non-occupational risk factors for surgically treated CTS. METHODS: Cases (n = 220) aged 18-65 years were randomly drawn from 13 administrative databases of citizens who were surgically treated

Stefano Mattioli; Alberto Baldasseroni; Massimo Bovenzi; Stefania Curti; Robin MT Cooke; Giuseppe Campo; Pietro G Barbieri; Rinaldo Ghersi; Marco Broccoli; Maria Pia Cancellieri; Anna Maria Colao; Marco dell'Omo; Pirous Fateh-Moghadam; Flavia Franceschini; Serenella Fucksia; Paolo Galli; Fabriziomaria Gobba; Roberto Lucchini; Anna Mandes; Teresa Marras; Carla Sgarrella; Stefano Borghesi; Mauro Fierro; Francesca Zanardi; Gianpiero Mancini; Francesco S Violante

2009-01-01