Congenital generalized lipodystrophy: A case report with neurological involvement

被引：9
作者：
Ben Turkia, H. [1 ]
Tebib, N. [1 ]
Azzouz, H. [1 ]
Abdelmoula, M. Slim [1 ]
Ben Chehida, A. [1 ]
Hubert, P. [2 ]
Douira, W. [3 ]
Ben Dridi, M. F. [1 ]
机构：
[1] Hop La Rabta, Serv Pediat, Tunis 1007, Tunisia
[2] Inst Pathol & Genet, B-416280 Gerpinnes, Belgium
[3] Hop Enfants, Serv Radiol, Tunis, Tunisia
来源：
ARCHIVES DE PEDIATRIE | 2009年 / 16卷 / 01期
关键词：
INSULIN-RESISTANCE;
D O I：
10.1016/j.arcped.2008.10.005
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by near complete absence of adipose tissue from birth. At least 2 genes located in 9q34(AGPAT2) and 11q13(Seipin) are implicated in type 1 and 2, respectively, and result in insulin resistance. We report here a novel case of CGL type 1 resulting from a novel homozygote mutation in the AGPAT2 gene. The clinical picture included pseudoathletic muscular hypertrophy, hypertrophic cardiomyopathy, enlarged liver, hypermetabolism rate, and hyperinsulinemia in a 1-year-old child from Libya. Peripheral hypertonia and reflex excitability revealed signal abnormalities in white matter on magnetic resonance imagery, which has not been described previously in the literature, (C) 2008 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码：27 / 31
页数：5
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