Introduction: Lipodystrophies are heterogeneous group of disorders; characterized by congenital or acquired loss of fat tissue. These disorders can causes severe metabolic complications during childhood. Case: 10.5 years old girl admitted to our clinic due to pigmented lesions on her body. She was investigated due to sclerotic lesions on her legs when she was 8 years old and was diagnosed as scleroderma and methotrexate was initiated. On physical examination weight was 47 kg (+1.4 S.D.S.) and height was 158.7 cm (+2.6 S.D.S.). Acanthosis nigricans on her neck, prominent musculature, and loss of body fat in lower extremity existed. HOMA-IR was 6. She was treated with life style modifications and medical nutritional therapy. After 4 years follow up, hirsutism, thickening of the voice and menstrual irregularity started. On her physical examination cliteromegaly, increased appearance of acanthosis and increased loss of fat tissue was found. The whole-body MR revealed significant fat tissue loss in lower extremity and fatty liver. Autoimmune disease screening, C3, C4 levels and HIV serology were negative. On her 15th year she was diagnosed as diabetes mellitus (DM) with a serum glucose: 219 mg/dl and HBA1c of 12.4%. Serum leptin value was 4.31 ng/ml. Genetic analysis of familial partial lipodystrophy (LMNA, PPARG, PLIN1, AKT2) was negative.With medical history and severe clinical findings, she was diagnosed as acquired partial lipodystrophy secondary to panniculitis. Her ongoing treatment is multiple daily dose insulin (2.0 unit/kg/day), metformin, life style modifications and medical nutrition therapy. Recombinant leptin (metreleptin) treatment is planned.Conclusion: Partial lipodystrophies are rare diseases during childhood, but they can lead to insulin resistance, diabetes mellitus and severe metabolic complications. Although high dose insulin treatment is insufficient for controlling DM, metreleptin replacement therapy can be successful.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology