Early infantile cardiomyopathy and liver disease: A multisystemic disorder caused by congenital lipodystrophy

被引：18

作者：

Debray, Francois-Guillaume ^{[1
,2
,3
]}

Baguette, Christel ^{[4
]}

Colinet, Stephanie ^{[4
]}

Van Maldergem, Lionel ^{[5
]}

Verellen-Dumouin, Christine ^{[6
]}

机构：

[1] CHU Sart Tilman, Dept Med Genet, Metab Unit, B-4000 Liege, Belgium

[2] Univ Liege, B-4000 Liege, Belgium

[3] CHC, Clin Esperance, Pinocchio Ctr Inborn Metab Dis, B-4000 Liege, Belgium

[4] CHC, Clin Esperance, Dept Pediat, B-4000 Liege, Belgium

[5] Univ Franche Compte, Ctr Human Genet, Besancon, France

[6] Inst Pathol & Genet, B-6041 Gosselies, Belgium

来源：

MOLECULAR GENETICS AND METABOLISM | 2013年 / 109卷 / 02期

关键词：

Lipodystrophy; Hypertrophic cardiomyopathy; Overgrowth; Hypertriglyceridemia; Insulin resistance; GENERALIZED LIPODYSTROPHY;

D O I：

10.1016/j.ymgme.2013.04.011

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Congenital generalized lipodystrophy is a rare inherited multisystemic disorder associated with disturbances of adipocyte functions. We report a young boy presenting at age 1 month with liver disease and severe hypertrophic cardiomyopathy. Despite this multisystemic involvement and contrasting with a cachectic appearance, the anthropometric parameters showed marked overgrowth (+4 DS), leading to diagnosis of congenital lipodystrophy, which was confirmed by the presence of the new homozygous c.259C>T (p.Gln87*) mutation in the AGPAT2 gene. Early infantile cardiomyopathy should be considered as a specific endophenotype in Berardinelli-Seip Congenital Lipodystrophy syndrome. (C) 2013 Elsevier Inc. All rights reserved.

引用

页码：227 / 229

页数：3

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