Neurology Department, Pediatric Hospital "Prof Dr Juan P Garrahan,", Buenos Aires, Argentina.
Epilepsia. 2013 Sep;54(9):1605-12. doi: 10.1111/epi.12321. Epub 2013 Jul 24.
Myoclonic epilepsy in infancy (MEI) is characterized by brief generalized myoclonic seizures associated with generalized spike-wave paroxysms without other seizure types occurring in the first 3 years of life in developmentally normal children. In this study we analyze the electroclinical features, treatment, and outcome of 38 patients with MEI.
A retrospective chart review was conducted in 38 patients followed at the Neurology Department of the Pediatric Hospital Juan P. Garrahan in Buenos Aires, Argentina, between 1990 and 2012.
A total of 24 boys and 14 girls were identified. The mean and median ages at seizure onset were 16 and 18 months, respectively (range 3-40 months). Ten patients (28.9%) had a family history of epilepsy, and six (15.8%) had a family history of febrile seizures. All patients had several daily brief and isolated myoclonic seizures during wakefulness and predominantly in the first two stages of sleep. Twelve children (31.5%) had reflex myoclonus, triggered by a tactile stimulus in 10 and additionally by noise and light in 2. The remaining two had photosensitive myoclonic jerks. The interictal electroencephalography (EEG) recordings evidenced generalized spike waves, polyspikes, and polyspike-wave paroxysms. The interictal EEG was normal in 12 patients. The abnormalities on the ictal EEG were similar to those on the interictal EEG. Most of the patients responded well to valproic acid. After a mean follow-up of 13.5 years, 24 patients (63%) were without treatment. At the last examination, 32 patients had normal neurologic and neuropsychological evaluations. Two patients (5.2%) had significant cognitive impairment (an IQ of 60 and 63, respectively) despite good seizure control. Four patients (10.4%) had significant learning impairment, two of whom also had attention deficit hyperactivity disorder.
MEI is a well-defined epileptic syndrome of unknown etiology, but likely of a genetic cause. It is self-limited and pharmacosensitive mainly to valproic acid.
婴儿肌阵挛性癫痫（MEI）的特征是在发育正常的儿童生命的前 3 年内，无其他发作类型，短暂的全身性肌阵挛发作伴全身性棘慢波发作。本研究分析了 38 例 MEI 患者的临床电特征、治疗和预后。
对 1990 年至 2012 年在阿根廷布宜诺斯艾利斯 Juan P. Garrahan 儿科医院神经科就诊的 38 例患者进行了回顾性病历分析。
共发现 24 名男孩和 14 名女孩。发病时的平均和中位数年龄分别为 16 和 18 个月（范围 3-40 个月）。10 例（28.9%）有癫痫家族史，6 例（15.8%）有热性惊厥家族史。所有患者在清醒时有几日常发性短暂孤立肌阵挛发作，主要发生在睡眠的前两个阶段。12 例患儿（31.5%）有反射性肌阵挛，10 例由触觉刺激触发，2 例由噪音和光照触发。其余 2 例为光敏性肌阵挛性抽搐。发作间期脑电图（EEG）记录显示为全身性棘波、棘慢波和棘慢波爆发。12 例患者的发作间期脑电图正常。发作期脑电图异常与发作间期脑电图相似。大多数患者对丙戊酸反应良好。平均随访 13.5 年后，24 例患者（63%）无需治疗。最后一次检查时，32 例患者的神经和神经心理学评估正常。2 例患者（5.2%）存在显著认知障碍（智商分别为 60 和 63），尽管癫痫发作得到了很好的控制。4 例患者（10.4%）存在显著的学习障碍，其中 2 例伴有注意力缺陷多动障碍。
MEI 是一种明确的癫痫综合征，病因不明，但可能是遗传原因。它是自限性的，对丙戊酸敏感。
