H Wimalaratna; ASD Nandasiri
Journal Issue: 
Volume 43: Issue 4: 2013



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.