婴儿重症肌阵挛癫癎的临床特征及药物疗效分析  

Clinical features of severe myoclonic epilepsy in infancy in Chinese

作　　者：刘晓蓉[1] 秦兵[1] 廖卫平[1] 邓宇虹[1] 黎冰梅[1] 杨少青[1] 付伦姣[1] 

机构地区：[1]广州医学院第二附属医院神经内科,神经科学研究所,510260

出　　处：《中华神经科杂志》2006年第9期612-615,共4页Chinese Journal of Neurology

基　　金：广东省自然科学基金(04300792)

摘　　要：目的探讨婴儿重症肌阵挛癫癎(severe myoclonic epilepsy in infancy,SMEI)的临床特征及抗癫癎药物疗效。方法通过对4046例癫癎患者随访分析,根据国际抗癫癎联盟的分类标准诊断 SMEI,分析患者的临床资料。结果共收集到16例 SMEI 患者,其中散发病例8例,有热性惊厥或癫癎家族史者8例,根据发作形式诊断为典型 SMEI 10例,边缘型 SMEI 6例,患者有多种癫癎发作形式,伴有精神运动发育迟缓,部分患者有影像学异常。多重作用机制药物或作用于钠通道以外的药物治疗可能有效,患者预后差。结论 SMEI 是一种少见的、严重的、治疗困难、预后差的癫癎综合征。Objective To study the clinical features of severe myoclonic epilepsy in infancy （SMEI） in Chinese. Methods According to the diagnosis criteria of International League of Against Epilepsy, 16 SMEI patients were diagnosed from 4046 epilepsy patients and the clinical data were collected, including onset age, seizure types, physical signs of nerve system, EEG, brain MR, effects of anti-epileptic drugs and prognosis. Results In 16 SMEI patients including 8 sporadic cases and 8 cases with positive familial history of convulsive disorders, 10 were typical SMEI patients and 6 were borderline SMEI. Male was more frequently seen than female with a gender ratio of 2. 2： 1. SMEI patients presented with various seizure types, including clonic, tonic-clonic, myoclonic, atypical absence, complex partial seizure, simple partial seizure, atonic and tonic seizure. The most common type was generalized tonic-clonic seizure. Myoclonic seizure had an onset at about 2 years old. Most of them showed delayed psychomotor development, especially mental delay, ataxia and pyramid signs. Local or diffuse cerebral atrophy was identified on brain MR in some of the patients. Anti-epileptic drugs blocking sodium channels might aggravate epilepsy, and those with multiple mechanisms might be effective on the disease. After treatment, 2 patients were free of seizure, and others still suffered from frequent attacks. Condusion SMEI is a rare, severe epileptic syndrome difficult to be cured with poor prognosis.

关 键 词：癫疴 肌阵挛性 婴儿 抗惊厥药 

分 类 号：R651.1[医药卫生—外科学]