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

ÇAKIR M., Bruno C., CANSU A., ÇOBANOĞLU Ü., ERDURAN E.

ACTA PAEDIATRICA, vol.99, no.10, pp.1592-1594, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 99 Issue: 10
  • Publication Date: 2010
  • Doi Number: 10.1111/j.1651-2227.2010.01869.x
  • Journal Name: ACTA PAEDIATRICA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1592-1594
  • Keywords: Chanarin-Dorfman syndrome, Fatty liver disease, Infancy, Liver cirrhosis, ADIPOSE TRIGLYCERIDE LIPASE, HORMONE-SENSITIVE LIPASE, METABOLISM, LIPOLYSIS, DISORDER, TISSUE
  • Karadeniz Technical University Affiliated: Yes

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.