title: Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation.
abstract: Mutation in ABHD5 causes Dorfman-Chanarin syndrome (DCS), a multisystem triglyceride storage disorder. Ultrastructural study of leukocytes confirmed DCS in a child homozygous for a novel ABHD5 mutation, with ichthyosis, developmental delay, and steatohepatitis with cirrhosis, manifest only as elevated aminotranferase levels. We recommend early assessment for liver disease in DCS.
authors.affiliation: Department of Child Health, King's College Hospital, Denmark Hill, London, United Kingdom.
authors.forename: Ramesh
authors.initials: R
authors.lastname: Srinivasan
authors.forename: Nedim
authors.initials: N
authors.lastname: Hadzić
authors.forename: Judith
authors.initials: J
authors.lastname: Fischer
authors.forename: A S
authors.initials: AS
authors.lastname: Knisely
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; D002648:Child; D004950:Esterases / Q000235:genetics; D005234:Fatty Liver / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D005260:Female; D006505:Hepatitis / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D006801:Humans; D008049:Lipase / Q000235:genetics; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics / Q000628:therapy; D008103:Liver Cirrhosis / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D013577:Syndrome; D014280:Triglycerides / Q000378:metabolism*
chemical_list: D014280:Triglycerides; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D004950:Esterases; D008049:Lipase