Lv Yudan, Zhang Nan, Liu Chang, Shi Mingchao, Sun Li
Department of Neurology and Neuroscience Center, The First Hospital of JiLin University, Changchun Department of Neurology, Yidu Central Hospital, Weifang, Shandong, China.
Medicine (Baltimore). 2018 Apr;97(15):e0299. doi: 10.1097/MD.0000000000010299.
Progressive myoclonic epilepsy (PME) is rare epilepsy syndrome. Although EEG is a useful neurophysiological technique in the evaluation of epilepsy, few EEG abnormalities have been described in PME. So, how to use EEG hints to establish the suspected diagnosis of PME as soon as possible should be addressed.
We presented a case with refractory myoclonic seizures, and progressive neurological deterioration, diagnosed as PME and neuronal ceroid lipofuscinosis disease by gene testing. The patient manifested with a significant regression in her speech ability and motor balance. The mini-mental state examination showed poor scores of 15/30. The magnetic resonance imaging showed diffused atrophy. Her EEG showed slow background with continuous occipital small spikes and photosensitivity. The following genetic testing with mutation in CLN6 confirmed the diagnosis and excluded the occipital epilepsy.
Our case showed rare manifestations and special EEG features of PME, which may be confused with occipital epilepsy or photosensitive epilepsy. Thus, if the continuous occipital spikes and photosensitivity were presented in a patient with refractory seizures and developmental regression, PME should be considered.
进行性肌阵挛癫痫（PME）是一种罕见的癫痫综合征。虽然脑电图是评估癫痫的一种有用的神经生理学技术，但在PME中很少有脑电图异常的描述。因此，应探讨如何利用脑电图线索尽早建立PME的疑似诊断。
我们报告了一例难治性肌阵挛发作和进行性神经功能恶化的病例，通过基因检测诊断为PME和神经元蜡样脂褐质沉积病。患者表现为语言能力和运动平衡显著衰退。简易精神状态检查表显示得分很低，为15/30。磁共振成像显示弥漫性萎缩。她的脑电图显示背景慢波，伴有持续的枕部小棘波和光敏感性。随后的基因检测发现CLN6基因突变，确诊了病情并排除了枕叶癫痫。
我们的病例显示了PME罕见的表现和特殊的脑电图特征，可能会与枕叶癫痫或光敏感性癫痫相混淆。因此，如果难治性癫痫发作和发育倒退的患者出现持续的枕部棘波和光敏感性，应考虑PME。
