• R Cardona-Hernández, L Suárez-Ortega, and M Torres.
• Unidad de Diabetes, Sección de Endocrinología, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain. rcardona@hsjdbcn.org
• An Pediatr (Barc). 2011 Feb 1; 74 (2): 126-30.

AbstractGeneralized congenital lipodystrophy or Berardinelli-Seip Syndrome is a rare autosomal recessive condition characterized by the absence of adipose tissue and eventually a defect in leptin synthesis. Affected subjects tend to show a classical phenotype with acromegaloid appearance, generalized atrophy of subcutaneous adipose tissue with muscular hypertrophy, acanthosis nigricans, hepatomegaly and prominent abdomen. From metabolic point of view and as a consequence of leptin absence, hypertriglyceridemia leading to hepatic steatosis and insulin resistance may appear. Two cases of unrelated subjects affected of generalized congenital lipodystrophy are presented. Both developed difficult-to-manage diabetes mellitus and were treated with high doses of insulin. In both cases early microvascular complications were present. A mutation for LMNA gene was found in one of the subjects.Copyright © 2010 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

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