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, cilt.99, ss.1592-1594, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Özet

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.