title: A case of Berardinelli-Seip syndrome presenting with cirrhosis.
abstract: Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence of functioning adipocytes, with lipid being stored in muscles, the liver and the pancreas. The usual presentation is in adulthood, with manifestations of insulin resistance, hypertriglyceridaemia and liver steatosis. Cirrhosis as the first presentation of BSCL in a young adult is rare. We describe a patient with BSCL presenting with cirrhosis. To the best of our knowledge this is the first case of BSCL reported in a Sri Lankan patient.
authors.affiliation: H Wimalaratna Teaching Hospital Kandy Sri Lanka 20000. harithlc@sltnet.lk.
authors.forename: H
authors.initials: H
authors.lastname: Wimalaratna
authors.forename: A S D
authors.initials: AS
authors.lastname: Nandasiri
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D006403:Hematologic Tests; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000209:etiology; D008111:Liver Function Tests; D008297:Male; D014280:Triglycerides / Q000097:blood
chemical_list: D014280:Triglycerides
keywords: Berrardinelli-Seip syndrome; cirrhosis; congenital lipodystrophy; generalised lipoatrophy; insulin resistance