Darra Francesca, Fiorini Elena, Zoccante Leonardo, Mastella Laura, Torniero Claudia, Cortese Samuele, Meneghello Lisa, Fontana Elena, Bernardina Bernardo Dalla
Unit of Child Neuropsychiatry, University of Verona, Verona, Italy.
Epilepsia. 2006;47 Suppl 5:31-5. doi: 10.1111/j.1528-1167.2006.00874.x.
Benign myoclonic epilepsy in infancy (BMEI) is a nosologically well-defined entity, characterized by myoclonic seizures (MS) in normal children younger than 3 years and by a good long term prognosis. In some cases the seizures are reflex. We studied 22 cases to better define the electroclinical semeiology and evolution of the disorder.
Serial electroclinical and neuropsychological assessments, both during wakefulness and during sleep, were performed in 22 otherwise healthy children with spontaneous (17) or reflex (5) MS, recorded by video-EEG-polygraphy since clinical onset.
Seizure onset was between 3 months and 4 years 10 months (50% during first year, 86% before the third year); in reflex cases onset, was earlier than the 14th month. MS recurred during wakefulness and slow sleep in all cases and during REM sleep in reflex cases. MS and related EEG discharges were synchronous or asynchronous. Often ictal EEG discharges were limited to the rolandic and vertex regions (falsely focal paroxysms). Several seizures were subtle and could have escaped recognition. Unusually frequent sleep startles were recorded mostly in reflex cases. MS were well controlled by treatment. At follow-up, between ages 3 and 19 years, four patients had occasional seizures; two had cognitive impairment and three had learning difficulties. No other seizures or cognitive deficits were observed in reflex cases.
Seizures associated with BMEI are rarely truly generalized and are often so subtle and related to falsely focal paroxysms that their frequency can be underestimated. The reflex form is a well-defined variant with an early onset, peculiar electroclinical features, and a good prognosis.
婴儿良性肌阵挛癫痫（BMEI）是一种在疾病分类学上定义明确的病症，其特征为3岁以下正常儿童出现肌阵挛发作（MS），且长期预后良好。在某些情况下，发作是反射性的。我们研究了22例病例，以更好地界定该疾病的电临床症状学及演变过程。
对22名原本健康的儿童进行了系列电临床和神经心理学评估，评估在清醒和睡眠期间进行，这些儿童自临床发病起通过视频脑电图多导记录仪记录有自发性（17例）或反射性（5例）MS。
发作起始年龄在3个月至4岁10个月之间（50%在第一年，86%在第三年之前）；反射性病例的发作起始早于14个月。所有病例在清醒和慢波睡眠期间均出现MS复发，反射性病例在快速眼动睡眠期间也出现复发。MS与相关脑电图放电同步或不同步。发作期脑电图放电通常局限于中央区和头顶区（假性局灶性发作）。几次发作很轻微，可能未被识别。异常频繁的睡眠惊跳大多记录在反射性病例中。MS通过治疗得到良好控制。在3至19岁的随访中，4例患者偶尔发作；2例有认知障碍，3例有学习困难。反射性病例未观察到其他发作或认知缺陷。
与BMEI相关的发作很少是真正的全身性发作，通常很轻微且与假性局灶性发作有关，以至于其发作频率可能被低估。反射性形式是一种定义明确的变体，发作起始早，具有独特的电临床特征，且预后良好。
