Prick M J, Gabreëls F J, Renier W O, Trijbels J M, Sengers R C, Slooff J L
Arch Neurol. 1981 Dec;38(12):767-72. doi: 10.1001/archneur.1981.00510120067011.
Progressive infantile poliodystrophy (Alpers' disease) is associated with abnormalities in pyruvate metabolism or in cell mitochondria. A 3-year-old-boy had a severe and rapidly progressive neurologic disorder characterized by psycho-motor retardation, tetraparesis, ataxia, and myoclonic jerks, the illness being exacerbated during periods of infection. Lactate concentration in CSF was elevated. Histopathologic studies revealed lipid storage in liver and muscle. Autopsy showed a progressive infantile poliodystrophy. Mitochondrial abnormalities were found in heart muscle. Biochemical studies of muscle and liver tissue suggested a disturbance in nicotinamide adenine dinucleotide (reduced form) oxidation.
进行性婴儿脊髓灰质炎样肌萎缩症（阿尔珀斯病）与丙酮酸代谢或细胞线粒体异常有关。一名3岁男孩患有严重且进展迅速的神经系统疾病，其特征为精神运动发育迟缓、四肢瘫痪、共济失调和肌阵挛性抽搐，病情在感染期间会加重。脑脊液中的乳酸浓度升高。组织病理学研究显示肝脏和肌肉中有脂质蓄积。尸检显示为进行性婴儿脊髓灰质炎样肌萎缩症。在心肌中发现了线粒体异常。对肌肉和肝脏组织的生化研究提示烟酰胺腺嘌呤二核苷酸（还原型）氧化存在障碍。
