Sudarsanam Annapurna, Ardern-Holmes Simone L
Children's Hospital at Westmead, Australia.
Children's Hospital at Westmead, Australia.
Eur J Paediatr Neurol. 2014 May;18(3):257-66. doi: 10.1016/j.ejpn.2013.10.003. Epub 2013 Nov 7.
Sturge-Weber syndrome is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain involving the first division of the trigeminal nerve, ipsilateral leptomeningeal angiomata and angioma involving the ipsilateral eye. Our understanding of the disease process has vastly improved since it was first described in 1879, with recent identification of an activating somatic mutation in the GNAQ gene found in association with both Sturge-Weber syndrome and non-syndromic facial port-wine stain. Sturge-Weber syndrome is marked by a variable but usually progressive course in early childhood characterised by seizures, stroke-like episodes, headaches, neurological and cognitive deterioration, hemiparesis, glaucoma and visual field defects. More recently, the increased prevalance of otolaryngological, endocrine and emotional-behavioural issues have been established. Neurophysiology and neuroimaging studies provide information regarding the evolution of changes in Sturge-Weber syndrome over time. Early recognition and aggressive management of symptoms remains cornerstone in the management of this syndrome. An international collaborative effort is needed to maximise our understanding of the natural history and response to interventions in Sturge-Weber Syndrome.
斯特奇-韦伯综合征是一种罕见的散发性神经皮肤综合征，其特征为累及三叉神经第一分支的面部葡萄酒色斑、同侧软脑膜血管瘤和累及同侧眼睛的血管瘤。自1879年首次描述该病以来，我们对疾病过程的理解有了极大的提高，最近发现GNAQ基因中的一种激活体细胞突变与斯特奇-韦伯综合征和非综合征性面部葡萄酒色斑有关。斯特奇-韦伯综合征在幼儿期表现为病程多变但通常呈进行性，特征包括癫痫发作、类中风发作、头痛、神经和认知功能恶化、偏瘫、青光眼和视野缺损。最近，耳鼻喉科、内分泌和情绪行为问题的患病率也有所增加。神经生理学和神经影像学研究提供了有关斯特奇-韦伯综合征随时间变化演变的信息。早期识别和积极处理症状仍然是该综合征管理的基石。需要开展国际合作努力，以最大限度地增进我们对斯特奇-韦伯综合征自然史及干预反应的了解。
