Fatal Rhabdomyolysis in 2 Children with LPIN1 Mutations

被引：47

作者：

Bergounioux, Jean ^{[1
]}

Brassier, Anais ^{[3
]}

Rambaud, Caroline ^{[2
]}

Bustarret, Olivier ^{[1
]}

Michot, Caroline ^{[3
,4
]}

Hubert, Laurence ^{[3
,4
,5
]}

Arnoux, Jean Baptiste ^{[3
]}

Laquerriere, Annie ^{[6
]}

Bekri, Soumeya ^{[7
]}

Galene-Gromez, Sophie ^{[8
]}

Bonnet, Damien ^{[9
]}

Hubert, Philippe ^{[1
]}

de Lonlay, Pascale ^{[3
,4
]}

机构：

[1] Hosp Necker Enfants Malad, Assistance Publ Hop Paris, Pediat Intens Care Unit, F-75015 Paris, France

[2] Hop Raymond Poincare, Dept Forens Med, Garches, France

[3] Hosp Necker Enfants Malad, Assistance Publ Hop Paris, Reference Ctr Metab Dis, F-75015 Paris, France

[4] Hosp Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

[5] Paris Descartes Univ, Paris, France

[6] Hop Charles Nicolle, Dept Forens Med, Rouen, France

[7] Hop Charles Nicolle, Dept Biochem, Rouen, France

[8] Hop Charles Nicolle, Pediat Intens Care Unit, Rouen, France

[9] Hosp Necker Enfants Malad, Assistance Publ Hop Paris, Pediat Cardiol Dis M3C, F-75015 Paris, France

来源：

JOURNAL OF PEDIATRICS | 2012年 / 160卷 / 06期

关键词：

CHILDHOOD;

D O I：

10.1016/j.jpeds.2012.02.033

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report 2 cases of fatal rhabdomyolysis in children carrying an LPIN1 mutations preceded by similar electrocardiogram changes, including diffuse symmetrical high-amplitude T waves. Our report underlines the severity of this disease and the need for active management of episodes of rhabdomyolysis in a pediatric intensive care unit. (J Pediatr 2012; 160:1052-4)

引用

页码：1052 / 1054

页数：3

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