Berardinelli-Seip syndrome is an autosomal recessive disorder characterized by generalized lipoatrophy, extreme insulin resistance with dyslipidaemia in childhood and development of diabetes and hepatic steatosis in adolescence. The metabolic derangements can be severe and lead to substantial comorbidities, including acute pancreatitis, hepatic cirrhosis, and premature cardiovascular disease. Other manifestations can include polycystic ovarian syndrome, acanthosis nigricans, and eruptive xanthomas. Lipodystrophy syndromes have caught interest because adipose tissue has been found to secrete a variety of cytokines/hormones such as leptin, adiponectin, resistin, and many others. Here we describe a dramatic response to treatment with leptin. A 15-year-old girl was given the diagnosis of Berardinelli-Seip congenital lipodistrophy syndrome (BSCL). She presented generalized lipoatrophy, muscle hypertrophy, xanthomas in elbows legs and soles, umbilical hernia, hirsutism, hyperphagia, acanthosis nigricans and hepatomegaly. Her BMI was 20.67 kg/m2, body fat was 5.72%, and BMR was 1 440.3 Kcal. Computer tomography revealed hepatic steatosis, one cyst on the right kidney, and absence of subcutaneous and adipose tissues. Patient had difficult to manage metabolic parameters, requiring 300U of insulin and combined therapy. She started a leptin-replacement therapy (1 ml/day). After ten days, her xanthomas became vanished, cholesterol levels decreased from 550 to 196 mg/dl, and triglycerides 5.000 to 840 mg/dl. She observed progressive reduced fasting blood glucose and insulin dose simultaneously with improvement in clinical signs, symptoms and quality of life. In a ten days course, leptin replacement showed to be able to manage metabolic state of the patient and xanthomas.
20 - 23 May 2017
European Society of Endocrinology