Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.
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.
Ronchetti
Anna
A
Department of Internal Medicine, Ospedale Alessandro Manzoni, Lecco, Italy. an.ronchetti@ospedale.lecco.it
Prati
Daniele
D
Pezzotta
Maria Grazia
MG
Tavian
Daniela
D
Colombo
Roberto
R
Callea
Francesco
F
Colli
Agostino
A
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
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D008049:Lipase