Berardinilli - Seip Congenital Generalized Lipodystrophy A Case Report

Abstract

Berardinilli - Seip congenital generalized lipodystrophy (BSCL) is a very rare autosomal recessive disease characterized by near absence of adipose tissue in the subcutaneous region since birth or early infancy and severe insulin resistance. Nearly 120 cases had been reported in the literature. Clinically it showed marked atrophy of subcutaneous fatty tissues, generalized muscle hypertrophy, developmental and learning disabilities in a majority of cases, with acromegaly, coarse facies, enlarged hands, feet and prominent mandible, increased sweating. Hepatomegaly from fatty liver is almost universal and may ultimately lead to cirrhosis. Females present with an enlarged clitoris (clitoromegaly), hirsutism, absence and irregular menses and polycystic ovary and only a few affected women have had successful pregnancies. All cases present with hypertriglyceridemia. Treatment consists of low fat diet and handling of insulin resistance and diabetes. A 19 months old Arabic female child, resident in Balad-Salahuddin province, was referred to outpatient clinic in Balad general hospital for her unusual facial features. She was a product of uneventful vaginal delivery with a smooth postnatal period. At 3rd month of life, the family noticed unusual gross facies which became more obvious with age.