A Case of Congenital Generalized Lipodystrophy Type 2 with Novel BSCL2 Gene Mutation

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by generalized absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatomegaly, hepatic steatosis, and early onset of diabetes. Herein, we described a case with CGL2 due to novel homozygous BSCL2 gene mutation. Three years-seven months old girl presented with a general lack of subcutaneous fat, prominent muscular hypertrophy, hollow cheeks, triangular face, acanthosis nigricans in fold areas, especially in the neck-bilateral axilla, hypertrichosis in arms-legs, abdominal swelling due to hepatomegaly, which are characteristic physical findings of CGL. Her parents were first-degree cousins. In laboratory: Glucose 75 mg/dL (70-105), C-peptide 6.8 ng/mL (0.9-4.3), insulin 47.4 µIU/mL (1.9-23), HbA1c 5.2% (4.8-6.0), total cholesterol 132 mg/dL (