M Cakir1, C Bruno, A Cansu, U Cobanoglu, E Erduran. 1. Department of Pediatric Gastroenterology Hepatology and Nutrition, Karadeniz Technical University, Trabzon, Turkey. muratcak@hotmail.com
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.
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.
Authors: Rita Quelhas da Costa; Francisco Laranjeira; Isaura Duarte Ribeiro; António Filipe Santos; Filipe Nery Journal: GE Port J Gastroenterol Date: 2021-07-07
Authors: Mugdha Joshi; Jacqueline Eagan; Nirav K Desai; Stephanie A Newton; Meghan C Towne; Nicholas S Marinakis; Kristyn M Esteves; Sarah De Ferranti; Michael J Bennett; Adam McIntyre; Alan H Beggs; Gerard T Berry; Pankaj B Agrawal Journal: Eur J Hum Genet Date: 2014-02-19 Impact factor: 4.246