title: [Difficult to manage diabetes mellitus associated with generalized congenital lipodystrophy. Report of two cases].
abstract: Generalized 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.
authors.affiliation: Unidad de Diabetes, Sección de Endocrinología, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain. rcardona@hsjdbcn.org
authors.forename: R
authors.initials: R
authors.lastname: Cardona-Hernández
authors.forename: L
authors.initials: L
authors.lastname: Suárez-Ortega
authors.forename: M
authors.initials: M
authors.lastname: Torres
mesh_terms: D000293:Adolescent; D002648:Child; D048909:Diabetes Complications / Q000188:drug therapy*; D003920:Diabetes Mellitus / Q000188:drug therapy*; D005260:Female; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications*; D008297:Male