成年期确诊的青少年肌阵挛性癫痫的临床特点  

Clinical characteristics of juvenile myoclonic epilepsy diagnosed in adulthood

作　　者：尚丽 王开颜[2] 龚德山 张翠荣 

机构地区：[1]德济医院神经内科,上海200331 [2]复旦大学附属华山医院神经内科 [3]德济医院神经外科,上海200331

出　　处：《临床神经病学杂志》2016年第1期34-37,共4页Journal of Clinical Neurology

摘　　要：目的 分析成年期确诊的青少年肌阵挛性癫痫（JME）的临床特点。方法 对75例成年期确诊的JME患者进行回顾性分析。结果 75例患者43例有误诊经历,最长误诊时间达26年。75例患者均有肌阵挛发作（MJ）,其中2例仅有MJ发作,2例合并失神发作（AS）,57例合并全面强直-阵挛发作（GTCS）,14例三种发作形式均有。EEG检查75例均发现全导广泛性棘慢或多棘慢复合波,23例有局灶性放电。23例既往曾服用卡马西平、奥卡西平、苯妥英钠或拉莫三嗪出现发作增多现象。随访0.5-4年,51例选择丙戊酸钠、托吡酯或左乙拉西坦单药治疗无发作,8例患者选择两种以上药物方能控制,5例停药后复发。结论JME多见于青少年期,步入成年期后误诊率更高。JME临床表现以MJ为主,常伴有GTCS或AS,EEG为弥漫性3.5-5 Hz棘慢波或多棘慢波,部分有局灶性放电。治疗可选择丙戊酸钠、托吡酯或左乙拉西坦,而卡马西平、奥卡西平、苯妥英钠可加重临床发作。JME患者停药后复发率高,推荐患者终身服药。Objective To investigate the clinical features of juvenile myoclonic epilepsy （JME） diagnosed in adulthood. Methods The clinical date of 75 patients with JME diagnosed in adulthood were retrospectively analyzed. Results In the 75 cases, 43 patients had been misdiagnosed. The longest time of misdiagnosis was Mealy 26 years. Seventy-five patients both had myoclonic seizure （ M J）, among which 2 cases had MJ only, 2 cases had absence seizure（AS）, 57 cases had general tonic-clonic seizure （GTCS）, 14 cases had all of the three types. EEG showed all the 75 cases had generalized polyspike-waves or spike-waves, and focal discharge was noted in 23 cases. Antiepileptics which had been prescribed in 23 cases aggravated seizures, including carbamazepine, oxcarbazepine, phenytoin or lamotrigine. Patients were followed up for 0.5 - 4 years, fifty-one cases who received monotherapy with sodium valproate, topirmate or levetiracetam, achieved seizure free. Eight patients had to take two or more antiepileptics to control seizures. Five patients had relapsed after drug withdrawal. Conclusions JME is usually manifests around puberty, the rate of misdiagnosis is much higher in adulthood. The leading symptom is MJ, often accompanied by GTCS or AS. EEG shows generalized polyspike-waves or spike-waves with 3.5 - 5 Hz, parts with focal discharge. Sodium valproate, topirmate or levetiracetam could be used for the treatment of JME, but carbamazepine, oxcarbazepine or phenytoin may aggravate seizures. JME patients have a high recurrence rate after drug withdrawal, it is recommended that they should take lifelong medication.

关 键 词：肌阵挛 癫痫 丙戊酸钠 

分 类 号：R742.1[医药卫生—神经病学与精神病学]