摘要
目的探讨各型进行性肌阵挛癫痫的临床发作特点、诊断策略及病理特点。方法对12例进行性肌阵挛癫痫患者的临床发作特点、各项常规辅助检查、脑外组织病理光镜及电镜结果进行分析。结果 12例患者均行常规检查、神经电生理检查及病理检查,其中神经元腊样脂褐质沉积症(NCL)5例,肌阵挛性癫痫伴蓬毛样红纤维型(MERRF)5例,Lafora病1例,Unverricht-Lundborg病(波罗的海肌阵挛)1例。结论进行性肌阵挛癫痫是一组少见的肌阵挛癫痫综合症,通过详细的病史收集,特征性的脑电图,以及脑外组织活检,尤其是电镜的检查,可以早期诊断,正确分型。
Objective To explore the various types of progressive myoclonus epilepsy seizure characteristics,diagnostic strategies,and pathological features.Methods 12 cases of progressive myoclonus epilepsy were analyzed with the clinical characteristics,the routine laboratory examinations,the pathological examination by light and electron microscopy to extra cranial.Results 12 cases carried out routine examinations,neural electrophysiological examinations and physical examinations. The result showed that there 5 patients diagnosed with Neuronal Ceroid Lipofuscinoses,5 patients with MERRF,1 patient with Lafora Disease,1 patient with Unverricht-Lundborg disease.Conclusion Progressive myoclonus epilepsy is a group of rare myoclonus epilepsy syndrome. It can be early diagnosed and properly classified with detailed medical history,characteristics of the EEG,and physical examination of extra cranial tissue,especially electron microscopy examination.
出处
《中国康复理论与实践》
CSCD
2010年第8期768-770,F0003,共4页
Chinese Journal of Rehabilitation Theory and Practice
关键词
进行性肌阵挛癫痫
病理
临床特征
progressive myoclonus epilepsy
physical examination
clinical characteristics
