神经元蜡样脂褐质沉积病5例的脑电与临床表现

Clinical presentation and EEG in 5 patients with neuronal ceroid lipofuscinosis

目的：对5例DNA测序证实的神经元蜡样脂褐质沉积病（neuronal ceroid lipofuscinosis，NCL）患儿的临床和视频脑电图（V—EEG）进行分析，探索临床和EEG的对应关系。方法：对5例NCL患儿进行详细病史询问。神经学查体，行常规VEEG2h监测，观察临床特点和EEG的对应关系。结果：本组5例NCL患儿中，发现在1例病情较轻的患儿EEG表现为局限性慢波和慢波后尖慢波，视频未见抽搐发作；病情重的4例（肌力≤Ⅱ级）患儿中．3例有抽搐发作（1例有侧别优势，其对侧额区周期性痫样放电明显），其中1例在EEG低平的状态下抽搐，2例的周期性痫样放电与抽搐无固定锁时关系；另1例未见明显抽搐（无任何动作）。结论：EEG中特征性的周期性痫样放电发生于NCL病情重的患儿，这些患儿中有的甚至出现头皮EEG低平活动。

Objective： To investigate the correlation between the video electeroencephalography（V EEG） monitoring findings and the clinical signs in patients with neuronal ceroid lipofuscinosis（NCL）. Methods： The V-EEG monitoring（2 h） and the clinical records of 5 patients with NCL（3 males and 2 fe males）were analysed. Results： EEGs of the patients, were all severely abnormal. On the EEG of one pa- tient in mild condition, there were focal slow waves and slow-sharp slow wave complexs with no seizure. Three of 4 patients in severe condition（muscle force^Class I] ） had seizures （massive myoelonic jerks）, and one of them had periodic epileptiforrn discharge on the opposite side of the most myoclonie jerks. One patient of the three had massive myoelonic jerks with no conspicuous waves on EEG,and the massive my- oclonic jerks of the other two were not related to the stage of the periodic epileptiform discharges. The other patients in severe condition with no conspicuous waves on EEG had no actions within 2 h. Conclusion： The periodic epileptiform discharges exist in the patients with NCL in severe condition,and some of them had no conspicuous waves on EEG.