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題名 | Hereditary Spastic Paraplegia:Report of Two Siblings=遺傳性痙攣性截癱:兄妹病例報告 |
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作者 | 葉玉珠; 麥淑珍; 遲景上; Yeh, Yu-chu; Mak, Suk-chun; Chi, Ching-shiang; |
期刊 | 中華民國小兒科醫學會雜誌 |
出版日期 | 19980300、19980400 |
卷期 | 39:2 民87.03-04 |
頁次 | 頁112-115+134 |
分類號 | 417.583 |
語文 | eng |
關鍵詞 | 遺傳性痙攣性截癱; 痙攣性; Hereditary spastic paraplegia; Spasticity; |
中文摘要 | 遺傳性痙攣性截癱為中樞神經退化性疾病,主要症狀為下肢漸進性無力及痙攣現 象。依臨床有無伴隨其他神經學症狀,可分為單純性及複雜性兩種。其遺傳方式可為顯性、 隱性、或性聯遺傳。本文報告為一對兄妹,因步伐不穩來求診,兩兄妹的理學檢查主要為下 肢反射增強肌肉張力增加及痙攣現象。無小腦病徵及後脊椎病徵,運動神經及感覺神經正常。 實驗室檢查顯示血液中乳酸、尿酸、梅毒血清、長鏈脂肪酸,及小便基酸、有機酸檢查正常。 心電圖、中樞神經的核磁共振影像正常;體感覺誘發電位檢查發現無法於第十二對胸椎神經 傳導至大腦皮質的感覺區。最後診斷為遺傳性痙攣性截癱。現在哥哥須靠輔助器行走,妹妹 仍可行走,但無法跑步及快走。因此症在國外文獻中提及,很易被誤診為腦性麻痺;而無家 族史者,較不易診斷。國外雖然病例不少,但於國人兒童病例很少被提到,因此作者希望以 此篇病例報告使臨床醫師對此疾病多予注意。 |
英文摘要 | Hereditary spastic paraplegia (HSP) is a degenerative disorder of the central nervous system, characterized by progressive weakness and spasticity of the lower extremities. The first symptom is usually leg stiffness, unstable gait with difficulty in walking. Accourding to the clinical features, he-reditary spastic paraplegia can be divided into pure type and complicated type. The mode of hereditary spastic paraplegia can be autosomal dominant, autosomal recessive or X-linked. There have been many loci on chromosomes identified in recent years. We present two Chinese siblings with unstable gait, a 5-year-3-mnth-old brother and his 3-year-1-month-old sister, who belong to the pure type hereditary spastic paraplegia. Both of them had motor deficit on follow up. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。