Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5

M. Cakir, C. Bruno, A. Cansu, U. Cobanoglu, E. Erduran

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1592-1594
Number of pages3
JournalActa Paediatrica, International Journal of Paediatrics
Volume99
Issue number10
DOIs
Publication statusPublished - Oct 2010

Keywords

  • Chanarin-Dorfman syndrome
  • Fatty liver disease
  • Infancy
  • Liver cirrhosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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