Department of Radiology, National Center for Child Health and Development, Tokyo, Japan.
Pediatrics. 2011 Nov;128(5):e1307-10. doi: 10.1542/peds.2010-0961. Epub 2011 Oct 10.
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.
一名患有静脉性脑-心静脉血管畸形（VGAM）的婴儿在新生儿期出现心力衰竭。家族史显示其母亲患有遗传性出血性毛细血管扩张症。婴儿在新生儿期后进行了内皮糖蛋白基因突变分析，最终显示内皮糖蛋白基因突变。目前，VGAM 的发病机制尚不清楚。本病例的发现提示内皮糖蛋白基因突变可能与 VGAM 相关。
