Berardinelli-Seip Congenital Lipodystrophy  in a Filipino Child

Ebner Bon G.  Maceda; Charlotte Averill Y.  Tan; Jeanne Ruth U.  Basas; Mary Ann R.  Abacan

doi:10.47895/amp.vi0.3127

Ebner Bon G. Maceda Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila
Charlotte Averill Y. Tan Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila
Jeanne Ruth U. Basas Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila
Mary Ann R. Abacan Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila

DOI: https://doi.org/10.47895/amp.vi0.3127

Keywords: Berardinelli-Seip Congenital Lipodsytrophy, insulin resistance

Abstract

Berardinelli-Seip Congenital Lipodystrophy (BSCL) is an autosomal recessive inborn error of the common pathway of acylglycerol and phospholipid synthesis. Patients with this condition present with generalized lipoatrophy, hepatomegaly, acromegalic features, hypertrichosis, and developmental delay. But on workup, they may also be discovered to have hypertriglyceridemia with or without hypercholesterolemia and insulin resistance. A high index of suspicion is required for diagnosis which may have implications in management. Here we present a 5-year old male with clinical features of BSCL. BSCL2 gene sequencing done showed a homozygous c.782dupG, p.(Ile262Hisfs*12) sequence alteration, classified as pathogenic, hence, confirming the diagnosis of BSCL. This is the first reported case in the Philippines.