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目的 探讨肌阵挛癫痫的病因及其临床诊断方法。方法 对１ 例临床诊断肌阵挛癫痫的病人在临床资料分析的同时，进行脑活体组织检查及随访，并结合文献进行分析。结果 在活检脑组织的 Ｈ Ｅ、 Ｐ Ａ Ｓ 及 Ａｌｃｉａｎ ｂｌｕｅ 染色中发现 Ｌａｆｏｒａ 小体。结论 脑活检证实了此例肌阵挛癫痫是 Ｌａｆｏｒａ 型进行性肌阵挛癫痫，提示脑活检是目前诊断此病的最有效的方法。
Objective To investigate the etiology and clinical diagnosis of myoclonic epilepsy. Methods A clinical diagnosis of myoclonic epilepsy patients in clinical data analysis at the same time, the brain biopsy and follow-up, combined with the literature analysis. Results Lafora bodies were found in H E, P A S and Alcian blue staining of biopsied brain tissue. Conclusion Brain biopsy confirmed that this case myoclonic epilepsy is Lafora-type myoclonic epilepsy, suggesting that brain biopsy is the most effective method of diagnosis of the disease.