Berardinelli-Seip congenital lipodystrophy: Report of a case and review of literature

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare genetic disorder which is usually diagnosed at birth or soon thereafter, with lipoatrophy affecting the face, trunk and the limbs. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscles and liver. Affecting individuals develop insulin resistance and about 35% of individuals develop diabetes mellitus. Hepatomegaly secondary to hepatic steatosis occurs in virtually all individuals. Hypertrophic cardiomyopathy is reported in 20-25% of affected individuals and is a significant cause of mortality. We are reporting a 2.5 year old girl with mild mental retardation, tall stature, hirsutism, lipodystrophy, and hepatomegaly. We believe that our patient suffer from Berardinelli-Seip congenital lipodystrophy.