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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 pathological changes, clinical characteristics and diagnosis of a patient with progressive myoclonus epilepsy. Methods The patient underwent neurological evaluation and brain biopsy. The results were analyzed, and the patient was followed up. Results Onset was in early adult life. The initial symptoms were epileptic seizrures and progressive dementia, with myoclonus occurring later. Lafora bodies were found in brain biopsy. Conclusions This patient suffering from progressive myoclonus epilepsy was confirmed as Laforas disease by brain biopsy. Brain biopsy was an effective diagnostic method for Laforas disease.