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惊愕性癫痫一家系临床报道并文献复习

Startle epilepsy:a family constellation report and literature review
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摘要 目的对一家系同胞兄弟3例惊愕性癫痫的家系进行临床分析。方法收集患者病史、家族史,进行电生理等检查,结合国内外相关文献复习,对3病例的临床特点及治疗进行分析。结果该3例患者均在青少年期发病,在外界突如其来、患者无心理准备的触觉或听觉刺激而引起的癫痫发作,表现为双侧肌阵挛发作,同时有跌倒、言语停顿等,检查发现存在智能障碍。脑电图都呈弥漫性低中波幅棘慢综合波,顶枕区域多见。诊断为惊愕性癫痫。丙戊酸钠、氯硝西泮等抗癫痫治疗后症状改善。结论惊愕性癫痫家族性发病罕见,临床症状和脑电图是诊断惊愕性癫痫的主要依据。根据癫痫的发作类型选用抗癫痫药物进行治疗可能有效。 Objective To investigate the clinic manifestation in 3 patients of startle epilepsy in a family constellation. Methods The medical history,family history,electrophysiology,clinical features and therapy were analyzed. Results The 3 patients were caused by tactile or auditory stimuli coming unexpectedly when patients were without psychological preparation,onset with bilateral myoclonus seizure in adolescents,and manifested with drop,speech pause. Examination revealed the presence of mental retardation. Electroencephalogram( EEG)demonstrated diffuse low- amplitude spike and wave complex,and parietal- occipital region was more common. They were diagnosed as startle epilepsy. Their clinical situations were improved by valproate and clonazepam. Conclusion Startle epilepsy is rare in familial form,startle epilepsy was diagnosed by clinical symptom and EEG,and possibly treatment maybe improved by antiepileptic drugs according to the type of seizures.
出处 《安徽医学》 2013年第10期1470-1473,共4页 Anhui Medical Journal
关键词 惊愕性癫痫 肌阵挛 脑电图 Startle epilepsy Myoclonus seizure Electroencephalogram
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参考文献10

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