A Rare case in Indians -- Berardinelli–Seip Congenital Lipodystrophy

Berardinelli–Seip Congenital Lipodystrophy( BSCL) also called Congenital Generalised Lipodystrophy (CGL) is a very rare autosomal recessive metabolic syndrome with a prevalence of less than1 case in 12 million. About 200 cases have been reported so far world-wide. BSCL2 ,the more severe form of the disease with onset in the neonatal period or early infancy is present in Lebanon, Portugal, Norway and the Middle East with the world’s highest prevalence in the Brazilian population of Portuguese descent. However , reports from India are few and far between. We are therefore reporting a case of a 3 year old boy who presented wih features typical of the disease, characterised by generalised lipodystrophy, acromegaloid features, hepatosplenomegaly, involvement of the face with empty cheeks and hypertriglyceridemia along with mild mental retardation, penile enlargement and hirsutism. The boy had developed an obstructed Richter’s hernia at 3 months of age for which he was operated and subsequently developed cirrhosis at 1 year of age. Other than only one report of a case of BSCL2 having developed cirrhosis as early as 4 months of age, ours is the second report of BSCL with early onset of cirrhotic changes in the liver by one year of age. Moreover, though there have been some reports of umbilical hernia associated with BSCL, ours is the first report of Richter’s hernia developing at 3 months of age in a case of BSCL.