六、临床诊断
RHS诊断主要依靠临床特征,并且排除有关疾病。诊断要点:(1)7~21岁发病,有家族遗传史,也可散发;(2)临床特征:肌阵挛、小脑性共济失调,可伴有癫痫发作,但不频繁;(3)脑电图显示特征性的棘波、多棘波、棘慢波暴发。体感诱发电位可见巨大的皮层电位;(4)排除其他疾病:线粒体脑肌病、Sialidosis病、神经节蜡样脂褐质沉积症、Lafore体病、Gaucher病等。
七、治疗及预后[12]
对本病的治疗主要是针对肌阵挛,安定类和丙戊酸钠是最有效的药物,氯硝安定效果最好,联合用药较单一效果要好,如氯硝安定和丙戊酸钠或扑痫酮等联合用药,严重病人甚至可以3种药物联合使用。对小脑性共济失调尚无对症治疗的措施,物理疗法和康复训练也很重要。本病进展缓慢,不影响寿命,病程可持续数10年之久。
八、问题及展望
虽然对RHS的认识已有70多年的历史,但是目前对本病的认识还比较肤浅,还存在一些问题值得进一步探讨:(1)RHS这一名称并未被普遍认可,其恰当的命名、分类及与其他临床表现类似的疾病相鉴别上还存在许多问题;(2)肌阵挛性癫痫和小脑性共济失调的关系及其解剖和病理生理学机制尚不清楚;(3)运动性肌阵挛的存在使人们很难评价小脑功能;(4)原发性癫痫和肌阵挛的病人多年后出现共济失调,是否与抗癫痫药有关;(5)区分肌阵挛和非癫痫性生理性肌阵挛从临床和电生理上是十分困难的;(6)RHS与PME之间的关系很混乱,它们既不能完全等同,但又有重叠。
值得探讨的问题是为什么肌阵挛、小脑性共济失调、癫痫伴有或不伴有智能障碍这组临床症状相似的疾病,其生化、病理及遗传学基础却不同,肌阵挛和小脑性共济失调同时出现的解剖学基础及齿状核病变的症状学意义何在。
作者单位: 100053 北京,首都医科大学宣武医院神经内科
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