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題 名 | Congenital Myotonic Dystrophy: Report of One Case=先天型肌強直失養症:一病例報告 |
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作 者 | 廖宜新; 蘇慧琴; 姜達宇; 宋秉文; 彭信逢; 鄒國蘇; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 44:3 民92.05-06 |
頁 次 | 頁155-157+183 |
分類號 | 417.5832 |
關鍵詞 | 先天型肌強直失養症; 發展遲緩; 脫氧核醣核酸分析; Congenital myotonic dystrophy; Developmental delay; DMPK gene; |
語 文 | 英文(English) |
中文摘要 | 我們報告一例台灣地區之先天型肌強直失狀症的兒童個案。本個案病例是一位五歲小女孩,因發展遲緩及學習緩慢來求診。臨床理學,神經學檢查,智力測驗用發展測量評估顯現病人有肌病變性面部肌肉無力,被動個性,及認知發展遲緩。過去史顯示新生兒期會有低肌肉張力,餵食困難,及活力差的現象。當時的頭部電腦斷層也顯示有腱膜下血腫,蜘蛛膜下腔血腫,併右側腦室內出血。神經學檢查,發現有肌強直現象,並由典型的肌電圖變化及脫氧核醣核酸分析,确定為先天型肌強直失養症的此病。本病例顯現,先天型肌強直失養症在運動及認知功能上皆會影響病童,即使在缺乏強烈家族病史及神經學症狀情況下,若有兒童表現發展遲緩,有時須將先天型肌強直失養症列入別診斷,並以嚴密神經學檢查探求隱微症狀。 |
英文摘要 | We report a laboratory-confirmed pediatric case of congenital myotonic dystrophy (CMD) in Taiwan. A 5-year-old girl presented in our neurological clinic with the chief complaints of developmental delay and slowness in learning. Clinical examination, intelligence tests, and develipmental examinations revealed myopathic facial weakness, passivity and delayed cognitive development. Past history review showed neonatal hypotonia, feeding difficulty with cyanosis, and poor activity. Neonatal studies only revealed subyaleal hematoma and subarachnoid hemorrhage with mild degree right side intraventricular hemorrhage. Current neurological examination disclosed percussion myotonia and myotonia as and DNA analysis. The patient's mother, though minimally affected, had similar laboratory results. CMD affects children in both motor and cognitive function; the diagnosis should be entertained in developmentally delayed children with subtle neurological signs, even without strong family history. |
本系統中英文摘要資訊取自各篇刊載內容。