Linked Life Data

20108498

Source:http://linkedlifedata.com/resource/pubmed/id/20108498

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2010-1-29
pubmed:abstractText
Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction. Since the first description of the syndrome in 1959, there have never been reported cases of Alstrom syndrome with the occurrence of the Bardet-Biedl syndrome in their relatives, this case suggesting a close genetic link between these two ciliopathies. The presence of empty sella seems to be a rare morphologic finding in Alstrom syndrome although it has been documented in few Bardet-Biedl cases. CASE PRESENTATION: We report a case of a 20 -year-old caucasian male with hearing and visual loss, short stature, insulin resistant diabetes, dilated cardiomyopathy, hepatic and renal dysfunction, hypertension, and alopecia. By studying his family medical records we identified two relatives with suggestive clinical findings for Bardet Biedl syndrome. CONCLUSION: Analyzing the clinical traits of these patients we found that retinopathy, nephropathy and central obesity were present in all patients, suggesting a main anomaly in ciliary function controlling photoreception, renal and metabolic processes. The occurrence of similar clinical cases within a family further demonstrates the existence of a common pathologic cilliary mechanism, a genetic basis of phenotypic variability in seemingly monogenic disease and a functional link between rare disorders and common traits with overlapping clinical manifestations. Genetic studies in such patients may provide new data regarding the consequences of defective cilia and a possible identification of new gene mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1844-122X
pubmed:author
pubmed:issnType
Print
pubmed:volume
2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
98-103
pubmed:meshHeading
pubmed:articleTitle
Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype.
pubmed:affiliation
"Ovidius" University, Faculty of Medicine. doinac@seanet.ro
pubmed:publicationType
Journal Article, Case Reports