The First Reported Case of Berardinelli-Seip Congenital Lipoatrophy in a Bangladeshi Child

What is it about?

An 11-month-old Bangladeshi female baby, the first issue of her non-consanguineous parents, presented with dysmorphic facies, prognathism, lack of subcutaneous fat in all body parts, and apparent muscular hypertrophy, excessive body hair (sparing the face, axilla, and pubic area), enlarge hand-feet, clitoromegaly and hepatomegaly, diagnosed as Berardinelli-Seip congenital lipoatrophy.

Featured Image

Why is it important?

Generalized lipodystrophy is a rare condition that can be divided into congenital and acquired types, based on the age at presentation and pattern of inheritance. Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip congenital lipoatrophy (BSCL), was first described by Waldemar Berardinelli in 1954 and later on further outlined by Martin Seip. BSCL is a very rare autosomal recessive disease disorder, its prevalence was estimated to be 1–10 cases every 10 million.[2,3] BSCL is characterized by near-total fat atrophy since birth, associated with the progressive development of metabolic complications.

Perspectives