Dipartimento Materno Infantile, Unità di Neuropsichiatria Infantile, Universita 'di Palermo, Italy.
Seizure. 2011 Nov;20(9):727-30. doi: 10.1016/j.seizure.2011.06.008. Epub 2011 Jul 12.
Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome included among idiopathic generalized epilepsies (IGE) and syndromes with age-related onset. Recently, it has been shown that a few patients with BMEI later had other epilepsy types mainly IGE but never childhood absence epilepsy (CAE). We report a patient who at 11 months of age showed isolated myoclonic jerks occurring several times a day. The ictal video-EEG and polygraphic recording revealed generalized discharge of spike-wave (SW) lasting 1-2s associated with isolated bilateral synchronous jerk involving mainly the upper limbs controlled by valproic acid (VPA). At 6 years and 8 months the child developed a new electroclinical feature recognized as CAE. The ictal EEG disclosed a burst of rhythmic 3 Hz generalized SW. Our case is the first patient with BMEI reported in the literature who later developed a CAE. This finding suggests a common neurobiological and genetic link between different age-related epileptic phenotypes.
婴儿良性肌阵挛性癫痫（BMEI）是一种罕见的综合征，属于特发性全面性癫痫（IGE）和与年龄相关的发作性综合征。最近，有研究表明，少数 BMEI 患者后来出现了其他癫痫类型，主要是 IGE，但从未出现儿童失神癫痫（CAE）。我们报告了一名患者，他在 11 个月大时出现每天数次孤立性肌阵挛抽搐。发作期视频脑电图和多导睡眠描记显示，全身性棘慢波（SW）放电持续 1-2 秒，伴有主要累及上肢的双侧同步性肌阵挛，由丙戊酸（VPA）控制。在 6 岁零 8 个月时，患儿出现了一种新的电临床特征，被认为是 CAE。发作期脑电图显示出一阵有节奏的 3 Hz 全身性 SW。我们的病例是文献中首例报道的 BMEI 后发展为 CAE 的患者。这一发现提示不同年龄相关癫痫表型之间存在共同的神经生物学和遗传联系。
