Stumpf D A, Sokol R, Bettis D, Neville H, Ringel S, Angelini C, Bell R
Neurology. 1987 Jan;37(1):68-74. doi: 10.1212/wnl.37.1.68.
A 30-year-old woman was thought to have Friedreich's disease because of progressive ataxia, dysarthria, and titubation from age 3 years. Her diet was normal, and there were neither symptoms nor laboratory evidence of liver disease or fat malabsorption. Serum vitamin E content and the ratio of serum vitamin E to total serum lipid were very low, but serum vitamin A, cholylglycine, and lipid levels were normal, as was an oral vitamin E tolerance test. Muscle biopsy showed the lysosomal inclusions of vitamin E deficiency. Mitochondria had normal oxidative phosphorylation using polarographic assays. The cause of her vitamin E deficiency was unknown.
一名30岁女性因3岁起出现进行性共济失调、构音障碍和头部震颤，被认为患有弗里德赖希共济失调症。她饮食正常，没有肝病或脂肪吸收不良的症状及实验室证据。血清维生素E含量以及血清维生素E与总血清脂质的比值非常低，但血清维生素A、胆酰甘氨酸和脂质水平正常，口服维生素E耐量试验结果也正常。肌肉活检显示有维生素E缺乏的溶酶体包涵体。使用极谱分析法检测发现线粒体的氧化磷酸化正常。她维生素E缺乏的原因不明。
