Vein of Galen Aneurysmal Malformation Associated With an Endoglin Gene Mutation

被引：20

作者：

Tsutsumi, Yoshiyuki ^{[1
]}

Kosaki, Rika ^{[2
]}

Itoh, Yushi ^{[3
]}

Tsukamoto, Keiko ^{[3
]}

Matsuoka, Rumiko ^{[4
,5
]}

Shintani, Masaki ^{[4
,5
]}

Nosaka, Shunsuke ^{[1
]}

Masaki, Hidekazu ^{[1
]}

Iizuka, Yuo ^{[6
]}

机构：

[1] Natl Ctr Child Hlth & Dev, Dept Radiol, Tokyo 1578535, Japan

[2] Natl Ctr Child Hlth & Dev, Dept Clin Genet & Mol Med, Tokyo 1578535, Japan

[3] Natl Ctr Child Hlth & Dev, Dept Neonatol, Tokyo 1578535, Japan

[4] Tokyo Womens Med Univ, Int Res & Educ Inst Integrated Med, Sci IREIIMS, Tokyo, Japan

[5] Tokyo Womens Med Univ, Dept Pediat Cardiol, Tokyo, Japan

[6] Toho Univ, Ohashi Med Ctr, Dept Radiol, Tokyo, Japan

来源：

PEDIATRICS | 2011年 / 128卷 / 05期

关键词：

vein of Galen; aneurysmal malformations; endoglin; HEREDITARY HEMORRHAGIC TELANGIECTASIA; WEBER-SYNDROME; LOCUS; MAPS;

D O I：

10.1542/peds.2010-0961

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A child with vein of Galen aneurysmal malformation (VGAM) presented with cardiac failure in the neonatal period. The family history revealed his mother to have hereditary hemorrhagic telangiectasia. The child underwent an endoglin genetic analysis after the newborn period, which eventually demonstrated an endoglin mutation. The pathogenesis of VGAM is currently unknown. The findings of this case suggest that an endoglin mutation might be linked with VGAM. Pediatrics 2011;128:e1307-e1310

引用

页码：E1307 / E1310

页数：4

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