Canafoglia Laura, Bugiani Marianna, Uziel Graziella, Dalla Bernardina Bernardo, Ciano Claudia, Scaioli Vidmer, Avanzini Giuliano, Franceschetti Silvana, Panzica Ferruccio
Department of Neurophysiology and Epileptology, Carlo Besta National Neurological Institute, Milan, Italy.
Mov Disord. 2006 Sep;21(9):1453-6. doi: 10.1002/mds.20984.
We here describe a patient with late-infantile Niemann-Pick disease type C (NPC) presenting with worsening myoclonus, seizures, cerebellar symptoms, mild mental impairment, and gaze palsy. Electroencephalographic (EEG) -polymyographic examinations showed abnormally high and diffuse background alpha-activity, enhanced by intermittent photic stimulation. The electromyographic (EMG) showed quasirhythmic myoclonic jerks during motor activation. EEG-EMG frequency analysis (better than jerk-locked back-averaging) demonstrated the cortical origin of the myoclonus. Our observations indicate that cortical myoclonus may occur as the main symptom of NPC.
我们在此描述一名患有晚发性婴儿型尼曼-匹克病C型（NPC）的患者，其出现进行性加重的肌阵挛、癫痫发作、小脑症状、轻度智力损害和凝视麻痹。脑电图（EEG）-肌电图检查显示背景α活动异常增高且弥漫，间歇性光刺激可增强该活动。肌电图（EMG）显示运动激活期间出现准节律性肌阵挛性抽搐。EEG-EMG频率分析（优于抽搐锁定反向平均法）证实了肌阵挛的皮质起源。我们的观察结果表明，皮质肌阵挛可能作为NPC的主要症状出现。
