[Congenital generalized lipodystrophy].
OBJECTIVE
To present the major clinical and biochemical characteristics of congenital generalized lipodystrophy.


METHODS
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.


CONCLUSIONS
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.
Dep. de Pediatria, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG.
Paulo P
PP
Figueiredo Filho
Alexandre
A
Costa Val
Rosângela
R
Diamante
Cristiane F
CF
Cunha
Rocksane C
RC
Norton
Joel A
JA
Lamounier
Ennio
E
Leão
D000172:Acromegaly / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003923:Diabetes Mellitus, Lipoatrophic / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D006984:Hypertrophy; D007223:Infant; D008297:Male; D009132:Muscles / Q000473:pathology; D013577:Syndrome