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目的:分析进行性肌阵挛癫(PME)的临床特点。方法:回顾性分析7例PME患者病案。结果:①PME于童年或青少年起病。②随病情进展所有患者均有不同程度的智能减退。③癫发作形式:全身性、局灶性或节段性的肌阵挛,无规律、不同步、不对称的;通常合并全身强直阵挛发作或部分性发作。④有小脑、锥体束等神经系统受累症状。结论:PME主要临床表现除癫、肌阵挛和进行性神经功能衰退外,视觉发作也是比较明显的症状,脑电图检查是必不可少的。对某些患者及亲属进行乳酸运动试验有助于本病中线粒体病(MERRF)型的诊断。
Objective: To analyze the clinical features of progressive myoclonic epilepsy (PME). Methods: A retrospective analysis of 7 cases of PME patients. Results: ①PME in childhood or adolescent onset. ② With the progression of the disease all patients have different degrees of intelligent decline. ③ Epileptic seizures: general, focal or segmental myoclonus, irregular, asynchronous, asymmetric; usually combined with generalized tonic clonic seizures or partial seizures. ④ cerebellar, pyramidal tract and other nervous system involvement symptoms. Conclusion: The main clinical manifestations of PME are epilepsy, myoclonus and progressive neurological decline. Visual acuity is also a more obvious symptom. EEG is indispensable. Lactic acid exercise tests in some patients and relatives are helpful in the diagnosis of mitochondrial disease (MERRF) in this disease.