Department of Pediatrics, University G d'Annunzio of Chieti, Chieti.
Epileptic Disord. 2013 Jun;15(2):114-22. doi: 10.1684/epd.2013.0584.
Benign myoclonic epilepsy in infancy, classified among the generalised idiopathic epilepsies, is characterised by the occurrence of myoclonic seizures in the first three years of life in otherwise normal infants. Some authors have described cases of myoclonic seizures as a reflex response to sudden unexpected tactile or acoustic stimuli and this clinical entity has been proposed as a separate nosographic syndrome, referred to as "reflex myoclonic epilepsy in infancy" (RMEI). We reviewed all published articles and case reports on RMEI in order to clarify clinical and electroencephalographic findings, with particular attention to outcome and treatment. RMEI appears to be a benign variant of idiopathic myoclonic epilepsy in infancy with specific features that occur in neurologically and developmentally normal children. This rare clinical entity is often under-described and under-diagnosed, and for this reason should be brought to the attention of paediatricians in order to avoid extensive investigations and reassure parents of the lack of long-term complications.
婴儿良性肌阵挛性癫痫归类于全面性特发性癫痫，其特征为在正常婴儿生命的头三年出现肌阵挛发作。一些作者描述了肌阵挛发作作为对突然意外触觉或听觉刺激的反射反应的情况，这种临床实体已被提议作为一个单独的疾病综合征，称为“婴儿反射性肌阵挛癫痫”（RMEI）。我们回顾了所有关于 RMEI 的已发表文章和病例报告，以阐明临床和脑电图表现，特别关注结局和治疗。RMEI 似乎是婴儿特发性肌阵挛性癫痫的良性变异型，具有发生在神经和发育正常儿童中的特定特征。这种罕见的临床实体通常描述不足且诊断不足，因此应引起儿科医生的注意，以避免进行广泛的检查并让父母放心无长期并发症。
