Sturge-Weber Syndrome

被引：0

作者：

Harmon K.A. ^{[1
]}

Comi A.M. ^{[2
]}

机构：

[1] Hunter Nelson Sturge-Weber Center, Kennedy Krieger Institute, 801 North Broadway, 5th Floor Neurology, Room 558, Baltimore, 21205, MD

[2] Hunter Nelson Sturge-Weber Center, Kennedy Krieger Institute, 801 North Broadway, 5th Floor Neurology, Room 553, Baltimore, 21205, MD

来源：

Current Pediatrics Reports | 2018年 / 6卷 / 1期

关键词：

Epilepsy; Glaucoma; GNAQ; Port-wine birthmark; Somatic mosaic mutation; Sturge–weber syndrome;

D O I：

10.1007/s40124-018-0151-1

中图分类号：

学科分类号：

摘要：

Purpose of Review: The goal of this paper is to discuss recent developments in the diagnosis, neuroimaging, and treatment of Sturge-Weber Syndrome. Recent Findings: Diagnosis and treatment in Sturge-Weber syndrome is evolving in the context of the recent discovery of the underlying somatic mutation in G protein subunit alpha q (GNAQ), development of novel neuroimaging techniques, as well as new multi-centered clinical trials. Summary: Sturge-Weber Syndrome is a rare, non-familial disorder that is typically characterized by the association of a facial capillary malformation with a leptomeningeal angioma of the brain and/or eye. This review will summarize the latest progress in Sturge-Weber syndrome clinical care and highlight areas of current controversy and need for future research. © 2018, Springer Science+Business Media, LLC, part of Springer Nature.

引用

页码：16 / 25

页数：9

共 82 条

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