title: Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.
abstract: Fatty liver disease is mainly caused by alcohol consumption, excessive body weight, dyslipidemia and impaired glucose tolerance, but inherited disorders can sometimes be involved. We report the case of a 40-year-old woman with steatohepatitis and severe portal hypertension, associated with ichthyosis, cataract and hypoacusia. The clinical, pathological and genetic findings were consistent with a diagnosis of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive inherited neutral lipid storage disorder, and genetic analysis showed that a novel ABHD5 mutation is responsible.
authors.affiliation: Department of Internal Medicine, Ospedale Alessandro Manzoni, Lecco, Italy. an.ronchetti@ospedale.lecco.it
authors.forename: Anna
authors.initials: A
authors.lastname: Ronchetti
authors.forename: Daniele
authors.initials: D
authors.lastname: Prati
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Pezzotta
authors.forename: Daniela
authors.initials: D
authors.lastname: Tavian
authors.forename: Roberto
authors.initials: R
authors.lastname: Colombo
authors.forename: Francesco
authors.initials: F
authors.lastname: Callea
authors.forename: Agostino
authors.initials: A
authors.lastname: Colli
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; D000328:Adult; D005234:Fatty Liver / Q000175:diagnosis* / Q000209:etiology*; D005260:Female; D006505:Hepatitis / Q000175:diagnosis* / Q000209:etiology*; D006801:Humans; D008049:Lipase / Q000235:genetics*; D052439:Lipid Metabolism Disorders / Q000150:complications* / Q000235:genetics*; D008099:Liver / Q000473:pathology; D009154:Mutation / Q000235:genetics
chemical_list: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D008049:Lipase