| Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5. | |
| | |
MedLine Citation:
|
PMID: 20528790 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
We described a Turkish girl with Chanarin-Dorfman syndrome who developed liver cirrhosis in the early infancy. She had all the clinical features of Chanarin-Dorfman syndrome such as ichthyosis, Jordan's anomaly, fatty liver disease and mild ectropion. The diagnosis was confirmed with a novel ABHD5 mutation. Liver steatosis or steatohepatitis with or without hepatomegaly is the predominant finding of Chanarin-Dorfman syndrome. Cirrhosis has been reported in patients with long-duration disease. CONCLUSION: Local factors or dysfunction of local proteins such as mutations or polymorphisms in hepatic microsomal lipase and arylacetamide deacetylase may contribute the severity of liver involvement, and steatosis may progress to cirrhosis in the early infancy in Chanarin-Dorfman syndrome. |
| | |
Authors:
|
M Cakir; C Bruno; A Cansu; U Cobanoglu; E Erduran |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Acta paediatrica (Oslo, Norway : 1992) Volume: 99 ISSN: 1651-2227 ISO Abbreviation: Acta Paediatr. Publication Date: 2010 Oct |
Date Detail:
|
Created Date: 2010-11-05 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9205968 Medline TA: Acta Paediatr Country: Norway |
Other Details:
|
Languages: eng Pagination: 1592-4 Citation Subset: IM |
Copyright Information:
|
© 2010 The Author(s)/Journal Compilation © 2010 Foundation Acta Paediatrica. |
Affiliation:
|
Department of Pediatric Gastroenterology Hepatology and Nutrition, Karadeniz Technical University, Trabzon, Turkey. muratcak@hotmail.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Causal inference: response to Gagliardi.
Next Document: Perinatal services and outcomes in Quang Ninh province, Vietnam.