Молекулярная и генетическая медицина

Berardinelli – Seip Congenital Lipodystrophy

Abstract

Jagabandhu Ghosh and Joydeep Ghosh

Berardinelli-Seip Congenital lipodystrophy is a rare autosomal recessive disorder characterized by acanthosis nigricans, loss of subcutaneous fat, hepatosplenomegaly, mental retardation, hypertriglyceridemia, insulin resistance. An inability to store energy in adipose tissue is one of the important pathogenetic mechanisms. In congenital lipodystrophy, insulin resistance is present from birth, resulting in hyperlipidaemia, hyperinsulinaemia, insulin resistance diabetes and acanthosis nigricans. We report here a case of congenital lipodystrophy presenting with seizure and acanthosis nigricans in absence of insulin resistance.