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頁籤選單縮合
題名 | EEG-A Valuable Tool in Early Diagnosis of Angelman Syndrome=腦波檢查在安琪曼癥候群具早期診斷價值 |
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作者 | 蘇慧琴; 郭保麟; 蔡立平; Sue, Chey-chen; Kuo, Pao-lin; Tsai, Li-ping; |
期刊 | 臺灣兒科醫學會雜誌 |
出版日期 | 19991100、19991200 |
卷期 | 40:6 民88.11-12 |
頁次 | 頁434-436+467 |
分類號 | 415.847 |
語文 | eng |
關鍵詞 | 安琪曼癥候群; 腦波; Angelman syndrome; AS; EEG; Cytogenetics; Methylation abnormality; |
中文摘要 | 安琪曼癥候群,又名快樂布偶癥候群,是遺傳性孩童期發展遲緩原因之一,但其 臨床表徵如顱面異常、步態不穩、陣笑、顱癇,甚晚始趨明顯,常延遲診斷而無法遺傳諮詢 。所幸腦波甚早即有具特徵性的額葉陣發性慢波變化,我們據此正確地診斷 -- 九個月大男 嬰罹患此症,並再次強調腦波檢查在原因未明性發展遲緩嬰幼兒的重要性。 have described characteristic EEG changes such as 2-3 Hz. large amplitude slow wave paroxysms which appear early and are quite specific to the syndrome. With EEG aid, we made very early diagnosis in a 9 month-old young infant. And we would like to advocate the use of EEG study in cryptogenic psychomotor retardation in children. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。