A Patient with Congenital Generalized Lipodystrophy

Background: Congenital generalized lipodystrophy (CGL) presents during the first two years of life. It is a rare autosomal recessive inherited disease with loss of cutaneous fat and various complaints and complications such as diabetes mellitus, hypertriglyceridaemia and hepatic steatosis. Case Report: A patient was hospitalized with abdominal distention, weight loss, irritability, and pruritus. Massive hepatomegaly, huge splenomegaly, multiple significant lymphadenopathies, hypertrichosis, generalized subcutaneous fat loss with bird-faced, increased musculature, and prominent superficial veins were detected on examination. In paraclinical evaluation, hyperlipidemia and severe liver fibrosis (grade 5) were diagnosed, and she was discharged as a case of congenital generalized lipodystrophy. Conclusion: In an approach to a child with hepatosplenomegaly, lipodystrophy should be in mind.