Berardinelli–Seip congenital lipodystrophy type-2: a case series of three Indian children

Abstract Objectives Congenital generalised lipodystrophies (CGL) are a group of rare genetic disorders characterised by absence of adipose tissue and disturbances in lipid and carbohydrate metabolism. These disorders are characterised by distinct muscular phenotype with acromegaloid features, acanthosis nigricans and hepatomegaly. Metabolic disturbances lead to long-term complications such as diabetes, metabolic fatty liver disease, pancreatitis and cardiovascular disease. To highlight the clinical features and diagnostic approach towards lipodystrophies through the presentation of three Indian children with classical phenotypic and biochemical features. Case presentation Three Indian children (two siblings and one unrelated child), all born to non-consanguineous parents with uneventful perinatal histories, presented with progressive abdominal distension and developmental delay. Clinical examination showed generalised loss of subcutaneous fat, muscular habitus, acanthosis nigricans, and hepatosplenomegaly. Laboratory investigations revealed elevated transaminases and hypertriglyceridaemia. Ultrasonography showed hepatomegaly with fatty liver changes. Exome sequencing confirmed presence of variants consistent with the diagnosis of CGL. Though metreleptin was not available, diet modification and increased physical activity were initiated along with lipid lowering drugs which have helped to improve the dyslipidaemia in the siblings. Conclusions CGL is a rare but distinct disorder that should be considered in children presenting with generalised muscularity, hepatomegaly, and metabolic abnormalities.