Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year

An eight-month-old boy with congenital generalized lipodystrophy (CGL) due to a homozygous c.465_468delGACT (p.T156Rfs*8) mutation in the BSCL2 gene showed significant metabolic complications, including hypertriglyceridemia, hyperinsulinemia, and elevated liver transaminases, despite dietary and medical interventions. After one year of metreleptin treatment, the boy experienced a dramatic improvement in insulin, hemoglobin A1c, triglycerides, and liver transaminase levels, along with reduced hepatosteatosis and hepatosplenomegaly. Metreleptin effectively addressed hyperphagia and metabolic issues, suggesting its potential to improve quality of life and reduce mortality and morbidity in children with CGL when initiated early.