title: Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation.
abstract: Chanarin-Dorfman syndrome (CDS) is an autosomal recessive neutral lipid storage disease. It is very rare and characterized by ichtiosis, intracellular fat droplets in leucocytes (Jordan anomaly) and involvement of multiple tissues (skeletal muscle, central nervous system, bone marrow, eye and ear) mainly the liver. Our patients were diagnosed as CDS because they had ichtiosis, Jordon anomaly of leucocytes in peripheral blood smear, liver involvement and presence of homozygous 88 insertion C frame shift mutation on exon 4 of ABHD5/CGI-58 gene in genetic analysis. Our cases were two sisters. One of them developed severe steatohepatitis on age 19 and the other one was diagnosed as decompensated cirrhosis when she was 26 years old. We report here a new mutation in comparative gene identification-58 (CGI-58) gene causing syndactyly and steatohepatitis induced early cirrhosis.
authors.affiliation: Department of Gastroenterology, Cumhuriyet University Faculty of Medicine, 58140 Sivas, Turkey. drecakmak@hotmail.com
authors.forename: E
authors.initials: E
authors.lastname: Cakmak
authors.forename: H
authors.initials: H
authors.lastname: Alagozlu
authors.forename: O
authors.initials: O
authors.lastname: Yonem
authors.forename: H
authors.initials: H
authors.lastname: Ataseven
authors.forename: S
authors.initials: S
authors.lastname: Citli
authors.forename: H
authors.initials: H
authors.lastname: Ozer
mesh_terms: D000328:Adult; D005234:Fatty Liver / Q000235:genetics*; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008103:Liver Cirrhosis / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation; D055815:Young Adult