ESPE Abstracts (2014) 82 P-D-3-2-743

Seip Berardinelli Syndrome Case Report

Doly Pantojaa & Liliana Mejiab


aHospital Departamental de Nariño, Pasto – Nariño, Colombia; bFundación Valle de Lili, Cali – Valle, Colombia


Background: Congenital generalized lipodystrophy (LCG) or Seip Berardinelli Syndrome is an autosomal resessive rare disease with a prevalence of one in 10 million live births and characterized an absence of adipose tissue and alterations in carbohydrates metabolism and diabetes mellitus, hypertrigliyceridemia, hypertrophic cardiomyopathy, hepatomegaly caused by fatty infiltration which may lead to cirrosis and polycystic ovary syndrome. The challenge is to prevent these complications thereby preventing death. Current management consists of metformin and recombinant leptin but the latter is associated with resistance due to antibody formation. The low pevalence of the disease prevents the findings of new therapies.

Objective and hypotheses: To describe a case of Seip Berardinelli syndrome.

Method: A 15-year-old adolescents female presents with severe acanthosis nigricans and amenorrhea. Height 147 cm, weight 41 kg, triangular fascies, absence of Bichat’s ball, micrognathia, acromegaloid features of hands and feet, sever acanthosis in neck, axillary folds, thorax, perinal region, absence of subcutaneons tissue, and athetic body with marked muscular hypertrophy. Laboratory: fasting blood glucose 128 mg/dl, postprandial blood glucose 234 mg/dl. HbA1c 8.1%, triglycerides 358 mg/dl, pelvic ultrasound polycystic ovaries, echocardiogram normal. Patient did not respond to metformin so insulin was instituted with improvement of the diabetes.

Results: We present this case to make physicians aware of its existence and indicate the therapeutic optin of insulin.

Article tools

My recent searches

No recent searches.

My recently viewed abstracts