《中国康复理论与实践》

《中国康复理论与实践》 ›› 2010, Vol. 16 ›› Issue (8): 768-770.

• 论文 • 上一篇    下一篇

进行性肌阵挛癫痫的临床表现与病理

王琰，邵晓秋，丁成赟，张在强   

  1. 首都医科大学附属北京天坛医院神经内科，北京市 100050
  • 收稿日期:2010-05-29 修回日期:1900-01-01 出版日期:2010-08-25 发布日期:2010-08-25

Clinical Manifestations and Pathology of Progressive Myoclonus Epilepsy

WANG Yan, SHAO Xiao-qiu, DING Cheng-yun, et al   

  1. Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China
  • Received:2010-05-29 Revised:1900-01-01 Published:2010-08-25 Online:2010-08-25

PDF (PC)

被引次数

6

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。

关键词: 进行性肌阵挛癫痫, 病理, 临床特征

Abstract: ObjectiveTo explore the various types of progressive myoclonus epilepsy seizure characteristics, diagnostic strategies, and pathological features.Methods12 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.Results12 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.ConclusionProgressive 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.

Key words: progressive myoclonus epilepsy, physical examination, clinical characteristics