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五十岁时并存的斯特奇-韦伯综合征与烟雾病:一例报告及文献综述

Sturge-Weber Syndrome Coexisting With Moyamoya Disease in the Fifth Decade: A Case Report and Literature Review.

作者信息

Hao Zilong, Lai Xiaohui

机构信息

Department of Neurology, West China Hospital, Sichuan University, Guo Xue Xiang, Chengdu, China.

出版信息

Neurologist. 2019 Jan;24(1):13-16. doi: 10.1097/NRL.0000000000000207.

Abstract

Sturge-Weber syndrome (SWS) is a sporadically occurring neurocutaneous syndrome characterized by port-wine stain over the face, ocular abnormalities (glaucoma and choroidal hemangioma), and leptomeningeal angiomas. It is usually diagnosed in infancy, but it may occasionally present in adulthood with seizures or stroke-like episodes. Here, we report a 46-year-old male patient, having SWS coexisting with moyamoya disease, attending our hospital due to sudden loss of consciousness. We also searched PubMed (from its earliest date to August 2014) for case reports mentioning that SWS presents in adulthood. We identified 31 patients. The common clinical manifestation are seizures, stroke-like episodes, and migraine-like headaches.On the basis of our findings in this patient, we would recommend that patients with a port-wine nevus of the face should be given further investigation to rule out an intracranial vascular malformation, especially if seizures, stroke-like episodes, or migraine-like headaches are present.

摘要

斯特奇-韦伯综合征(SWS)是一种散发性神经皮肤综合征,其特征为面部葡萄酒色斑、眼部异常(青光眼和脉络膜血管瘤)以及软脑膜血管瘤。该病通常在婴儿期被诊断出来,但偶尔也可能在成年期出现癫痫发作或类似中风的发作。在此,我们报告一名46岁男性患者,患有SWS并伴有烟雾病,因突然意识丧失前来我院就诊。我们还在PubMed(从其最早日期至2014年8月)上搜索了提及SWS在成年期出现的病例报告。我们共识别出31例患者。常见的临床表现为癫痫发作、类似中风的发作以及类似偏头痛的头痛。基于我们对该患者的研究结果,我们建议对面部有葡萄酒色痣的患者应进行进一步检查,以排除颅内血管畸形,特别是在出现癫痫发作、类似中风的发作或类似偏头痛的头痛时。

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