Ataxia-Telangiectasia Associated with Torticollis: Report of One Case

運動失調一毛細血管擴張是極罕見的自體隱性遺傳病，臨床上它有三大特徵：1．約一歲起，開始進行小腦性運動失調；2．四至六歲，在眼球結膜出現扇狀毛細管擴張；3.常合併鼻竇及肺部感染。實驗室檢查顯示淋巴球減少，阿爾發胎兒蛋白昇高，免疫球蛋白A及E選擇性降低，細胞性免疫功能缺損，及對輻射線引發去氧核糖核酸受損缺乏修補能力，由於以上免疫功能障礙，病患常死於肺部感染或惡性腫瘤。近幾年分子生物學研究發現本病所合併的免疫功能缺損，可能是免疫球蛋白基因和T細胞受器基因兩者的基因重組發生問題。病理最明顯的變化是普金杰氏細胞減少甚至消失和胸線發育不良。本文報告一位七歲女孩，主訴斜頸一星期，家族史方面父母親是近親結婚，回顧病史，她在一歲開始學步起，步伐極不穩，且逐漸明顯，當時腦部電腦斷層及腦波皆正常，而被當作腦性麻痺做復健治療。二、三歲起出現慢性鼻竇炎，斜視和運動失調越來越明顯，理學檢查眼球結膜毛細管擴張，神經學有小腦性症候，其他實驗室檢查符合運動失調－毛細管擴張的診斷，經藥物治療，斜頸漸漸改善。在文獻上本病雖有錐體外症候，如舞蹈指痙症或肌陣痙急動症，但本個案合併斜頸尚屬首見，斜頸可能是本病的錐體外症狀之一。

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並列摘要

Ataxia-telangiectasia (A-T) is an autosomal recessive, multisystem disease characterized clinically by the onset of progressive cerebellar ataxia at about one year of age, followed by the development of fan-shaped telangiectasia of bulbar conjunctiva, usually at four to six years of age; and frequent sinopulmonary infections. The outstanding pathological findings in the central nervous system in A-T are loss of Purkinje cells and, to a lesser degree, basket and granular cells of the cerebellum. Although choreoathetosis and myoclonic jerks had been described in patients with A-T, torticollis has never been reported in the literature. A 7-year-old girl with A-T and torticollis is therefore presented in this paper.

並列關鍵字

ataxia-telangiectasia ； torticollis

國際替代計量

Ataxia-Telangiectasia Associated with Torticollis: Report of One Case

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