Ischemic Stroke in Williams-Beuren Syndrome: A Case Report

威廉氏症候群合併缺血性腦中風－個案報告

李威德(Wei-Der Lee) ； 許瑞仁(Jui-Jen Hsu) ； 黃鳳珍(Feng-Chen Huang) ； 趙美琴(Mei-Chyn Chao) ； 張由俐(Yu-Li Chang) ； 黃茂雄(Mao-Hsiung Huang)

《The Kaohsiung Journal of Medical Sciences》 25卷4期 (2009/04) Pp. 212-216

摘要

一位十五歲的少女，因突然出現右側顏面下垂，右側肢體無力現象住院。過去病史發現有中度智能障礙宜及發展遲緩。入院時除了上升的血壓以外其他生命跡象穩定。核磁共振造影顯示在左側內囊和基底核有梗塞。核磁共振血管造影沒有顯示血管狹窄區域。染色體分析46，XX，螢光原位雜交法(FISH)證實有第7染色體elastin gene缺損確認個案為威廉氏症候群。對於威廉氏症候群患者，先天的心血管異常就是個很重要的中風危險因子。定期心血管追蹤檢查，無論有無發生過心血管事件，都要考慮藥物使用控制血壓。

關鍵字

心血管異常 ； 缺血性腦中風 ； 智能障礙 ； 尿失禁 ； 威廉氏症候群

並列摘要

A 15-year-old girl was admitted because of an acute onset of facial palsy and right hemiparesis. The patient had a history of moderate mental retardation and developmental delay. On admission, her vital signs were stable, except for high blood pressure. Magnetic resonance imaging demonstrated an infarct involving the left internal capsule and putamen. Because of the patient's young age, an extensive stroke survey was performed. Williams-Beuren syndrome was finally confirmed by fluorescent in situ hybridization. Compared with the previously reported cases, no evidence of cerebral arterial stenosis or cardiac abnormalities was found by noninvasive imaging techniques. Because Williams-Beuren syndrome is a complex, multiple congenital anomaly syndrome with prominent cardiovascular features, regular assessment and antihypertensive treatment are necessary to minimize the lifelong cardiovascular risk in patients with this syndrome.

並列關鍵字

cardiovascular abnormalities ； ischemic stroke ； mental retardation ； urinary incontinence ； Williams-Beuren syndrome