Cakir_2010_Acta.Paediatr_99_1592

Reference

Title : Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5 - Cakir_2010_Acta.Paediatr_99_1592
Author(s) : Cakir M , Bruno C , Cansu A , Cobanoglu U , Erduran E
Ref : Acta Paediatr , 99 :1592 , 2010
Abstract :

UNLABELLED: 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.

PubMedSearch : Cakir_2010_Acta.Paediatr_99_1592
PubMedID: 20528790
Gene_locus related to this paper: human-ABHD5

Related information

Citations formats

Cakir M, Bruno C, Cansu A, Cobanoglu U, Erduran E (2010)
Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5
Acta Paediatr 99 :1592

Cakir M, Bruno C, Cansu A, Cobanoglu U, Erduran E (2010)
Acta Paediatr 99 :1592