Berardinelli-Seip Syndrome: A Rare Autosomal Disorder

Abstract

Berardinelli-Seip syndrome or congenital generalized lipodystrophy, is a rare autosomal recessive disease caused by dysregulation of lipid and glycemic metabolism. Common clinical signs are acanthosis nigricans, acromegaloid features, hepatomegaly, hyperandrogenism, altered glucose intolerance, cardiomyopathy and hypertriglyceridemia. We report an 11-year-old boy presenting with generalized lack of adipose tissue, generalized muscular hypertrophy and brownish colored skin on the neck, axillae and inguinal folds associated with hyperglycemia. The clinical diagnosis of Berardinelli-Seip syndrome was made.