Sturge-Weber syndrome

被引：0

作者：

McCaul, Conan ^{[1
]}

Comi, Anne ^{[2
]}

Juhasz, Csaba ^{[3
,4
]}

机构：

[1] Rotunda Hosp, Dept Anaesthesia, Dublin, Ireland

[2] Kennedy Krieger Inst, Hunter Nelson Sturge Weber Ctr, Baltimore, MD USA

[3] Wayne State Univ, Sch Med, PET Ctr, Detroit, MI USA

[4] Childrens Hosp Michigan, Translat Imaging Lab, Detroit, MI 48201 USA

来源：

ANASTHESIOLOGIE & INTENSIVMEDIZIN | 2018年 / 59卷

关键词：

D O I：

10.19224/ai2018.S596

中图分类号：

R614 [麻醉学];

学科分类号：

100217 ;

摘要：

Sturge-Weber is one of the rare phacomatosis or neurocutaneous syndromes, which consists of abnormal capillary malformations that can involve the face, eyes and leptomeninges of the brain. The syndrome was first described by W.A. Sturge in 1969. It has been recently demonstrated by Shirely et al. that it is caused by a somatic activating mutation in guanine nucleotide-binding protein G(q) (GNAQ) in the majority of cases.

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收藏

页码：S596 / S604

页数：9

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