Sturge-Weber综合征
医学
GNAQ公司
胎记
阿司匹林
癫痫
神经血管束
青光眼
冲程(发动机)
加巴喷丁
磁共振成像
放射科
病理
内科学
皮肤病科
眼科
突变
精神科
化学
替代医学
工程类
基因
机械工程
生物化学
作者
SangEun Yeom,Anne M. Comi
出处
期刊:Stroke
[Ovid Technologies (Wolters Kluwer)]
日期:2022-12-01
卷期号:53 (12): 3769-3779
被引量:14
标识
DOI:10.1161/strokeaha.122.038585
摘要
Sturge-Weber syndrome (SWS) is a rare, noninherited neurovascular disorder characterized by abnormal vasculature in the brain, skin, and eye. Patients with SWS characteristically have facial capillary malformation, also known as port-wine birthmark, a leptomeningeal vascular malformation seen on contrast-enhanced magnetic resonance imaging images, abnormal blood vessels in the eye, and glaucoma. Patients with SWS have impaired perfusion to the brain and are at high risk of venous stroke and stroke-like episodes, seizures, and both motor and cognitive difficulties. While the activating R183Q GNAQ somatic mutation is the most common somatic mutation underlying SWS, recent research also implicates that GNA11 and GNB2 somatic mutations are related to SWS. Recent retrospective studies suggest the use of low-dose aspirin and vitamin D in treatment for SWS and prospective drug trials have supported the usefulness of cannabidiol and Sirolimus. Presymptomatic treatment with low-dose aspirin and antiepileptic drugs shows promising results in delaying seizure onset in some patients. This review focuses on the latest progress in the field of research for Sturge-Weber syndrome and highlights directions for future research.
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