Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability. We present a case series of two siblings with BSCL: a nine-year-old boy and his seven-year-old sister, each with unique manifestations of the disorder. The older sibling presented with high-grade fever and right ankle pain, possibly indicative of a calcified deposit, alongside complications such as hyperglycemia (managed without insulin) and moderate pulmonary arterial hypertension (PAH) with tricuspid regurgitation (TR). The younger sibling displayed similar metabolic and cardiovascular complications, including hepatomegaly and early signs of cardiac involvement. Both cases required comprehensive evaluations, revealing anemia, thrombocytopenia, elevated leukocyte count, and high C-reactive protein (CRP) levels. The children were managed with high-potency antibiotics, leading to a marked improvement in their overall conditions. These cases demonstrate the broad spectrum of clinical manifestations associated with BSCL and highlight the importance of a multidisciplinary approach for effective management. Although limited by the small sample size, this case series shows the importance of a multidisciplinary approach in addressing the complex and overlapping symptoms of BSCL, which often mimic more common conditions. Increased awareness among healthcare providers is crucial for ensuring timely diagnosis and appropriate intervention, particularly in pediatric patients.
Keywords: berardinelli-seip syndrome; congenital lipodystrophy; genetic mutation; hepatic steatosis; hyperglycemia; insulin resistance; lipid metabolism disorder; multisystemic complications; pediatric case series; skeletal muscle hypertrophy.
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