[Congenital generalized lipodystrophy].

Paulo P Figueiredo Filho; Alexandre Costa Val; Rosângela Diamante; Cristiane F Cunha; Rocksane C Norton; Joel A Lamounier; Ennio Leão

doi:10.2223/1209

PubMed · 15309237

[Congenital generalized lipodystrophy].

Paulo P Figueiredo Filho·Alexandre Costa Val·Rosângela Diamante·Cristiane F Cunha·Rocksane C Norton·Joel A Lamounier·Ennio Leão

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Abstract

OBJECTIVE: To present the major clinical and biochemical characteristics of congenital generalized lipodystrophy. DESCRIPTION: Eight infants with congenital generalized lipodystrophy were identified at the Endocrine and Nutritional Pediatric Disease Outpatient Clinics at Hospital de Clínicas, Universidade Federal de Minas Gerais (UFMG). Clinical manifestations common to all patients included muscle hypertrophy, generalized lipoatrophy, and acromegalic physical appearance. Acanthosis nigricans was identified in five patients, hepatosplenomegaly in six, hypertriglyceridemia and low levels of HDL cholesterol in seven, cardiac hypertrophy in one and diabetes mellitus in two patients. All patients are under dietetic and clinical control. COMMENTS: The phenotypic characteristics of congenital generalized lipodystrophy are well identified, which, in most cases, favors the clinical diagnosis. The congenital generalized lipodystrophy is a very unusual syndrome that illustrates the importance of the adipose tissue for the majority of metabolic processes. A better understanding of this syndrome may open new horizons in the research of more prevalent diseases such as diabetes mellitus and obesity.

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Acromegaly Adolescent Child Child, Preschool Diabetes Mellitus, Lipoatrophic Female Humans Hypertrophy Infant Male Muscles Syndrome English Abstract Journal Article

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Paulo P Figueiredo Filho, Alexandre Costa Val, Rosângela Diamante, Cristiane F Cunha, Rocksane C Norton, Joel A Lamounier, Ennio Leão. [Congenital generalized lipodystrophy].. https://doi.org/10.2223/1209

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