Wang P J, Fan P C, Lee W T, Young C, Huang C C, Shen Y Z
Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1996 Nov-Dec;37(6):428-32.
Since 1987, we have diagnosed 10 patients, 4 males and 6 females, aged 2-11 years at the last evaluation, who all met the following criteria of severe myoclonic epilepsy in infancy (SMEI): generalized or unilateral long-lasting febrile clonic seizures in the first year of life; the subsequent appearance of myoclonic seizures and other types of seizure (partial seizures, atypical absences and convulsive status epilepticus); and neuropsychological deterioration for a certain period. Family histories of epilepsy and febrile seizures could be traced in 1 and 3 cases, respectively. None of them had previous personal history of brain insult. Electroencephalographic (EEGic) recordings in febrile seizure stage were normal; and continuous prophylaxis with phenobarbital failed to prevent the recurrence of febrile seizures. EEG studies in myoclonic stage showed generalized spike-and-waves, polyspike-and-waves, focal abnormalities and/or photosensitivity. The seizures were highly resistant to antiepileptic drugs. Our experiences suggested that comedication of valproic acid, clonazepam and carbamazepine may be most effective in treatment of the diverse seizures including myoclonic seizures, myoclonic-tonic-clonic seizures, atypical absences and partial seizures. Myoclonic seizures and atypical absences diminished in parallel to a clear-cut decrease in generalized abnormalities on EEG in 4 cases aged more than 7 years. However, the partial seizures, secondarily generalized seizures and status epilepticus were still present. Further investigations should aim to identify the underlying etiology and to search more effective treatment.
自1987年以来，我们共诊断出10例患者，4例男性，6例女性，末次评估时年龄为2至11岁，所有患者均符合以下婴儿严重肌阵挛癫痫（SMEI）标准：出生后第一年出现全身性或单侧性长时间热性阵挛发作；随后出现肌阵挛发作及其他类型发作（部分性发作、不典型失神发作和惊厥性癫痫持续状态）；以及一定时期内神经心理功能恶化。分别有1例和3例患者可追溯到癫痫和热性惊厥家族史。他们均无既往脑损伤个人史。热性惊厥期脑电图（EEGic）记录正常；苯巴比妥持续预防性用药未能预防热性惊厥复发。肌阵挛期脑电图研究显示有全身性棘波和慢波、多棘波和慢波、局灶性异常和/或光敏感性。这些发作对抗癫痫药物高度耐药。我们的经验表明，丙戊酸、氯硝西泮和卡马西平联合用药可能对治疗包括肌阵挛发作、肌阵挛-强直-阵挛发作、不典型失神发作和部分性发作在内的多种发作最为有效。4例7岁以上患者的肌阵挛发作和不典型失神发作与脑电图上全身性异常的明显减少同时减轻。然而，部分性发作、继发性全身性发作和癫痫持续状态仍然存在。进一步的研究应旨在确定潜在病因并寻找更有效的治疗方法。
