Department of Neurology, Universidade Federal de São Paulo, Brazil.
Neurology. 2012 Nov 27;79(22):e189. doi: 10.1212/WNL.0b013e31827597bf.
A 10-year-old boy presented to our hospital with a 3-year history of fall attacks triggered by laughing, leading to a generalized loss of muscle tone without loss of consciousness (video). One year later, motor delayed skills started. Examination showed ataxia, moderate cognitive impairment, and vertical gaze palsy. EEG revealed diffuse slowing and disorganization of background rhythms. Molecular analysis disclosed heterozygosis p.P1007A and p.A1035V mutations, diagnostic of Niemann-Pick disease type C (NPC).
一位 10 岁男孩因大笑引发跌倒发作来我院就诊，病史已有 3 年，发作时全身肌肉张力丧失但无意识丧失（视频）。1 年后，患儿出现运动发育迟缓。检查发现共济失调、中度认知障碍和垂直凝视麻痹。脑电图显示背景节律弥漫性减慢和紊乱。分子分析显示杂合 p.P1007A 和 p.A1035V 突变，诊断为尼曼-匹克病 C 型（NPC）。
