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例1 12岁男孩,5岁前发育正常,从5岁半起出现步态失调,腱反射消失,12岁时完全不能活动。其父母为表兄妹结婚,患儿的伯父母在18岁和23岁时也表现肌力低下。患儿血清维生素E值呈现极低值为45μg/d1,肌肉活检同无β-脂蛋白血症的维生素E 缺乏所见是一致的。给予维生素E 1.5g/日,一年内获得临床缓解。例2 其父母为表兄妹结婚的10岁男孩。5岁起步行困难,10岁出现伴有弥漫性萎缩的肌力低下和腱反射消失、步行失调,无感觉障碍。肌肉活检发现肌肉纤维细胞萎缩、脂褐质样物质蓄积、神经纤维脱髓鞘、轴索呈退行性变化。血清维生素E 值60μg/d1,
Example 1 A 12-year-old boy, with normal development before the age of 5 years, had a gait disturbance from the age of 5 and a half years and disappeared tendon reflexes. She could not move at 12 years of age. Their parents marry cousins, children with their mothers at the age of 18 and 23 also showed low muscle strength. Children with serum vitamin E value showed a very low value of 45μg / d1, muscle biopsy with no β-lipoprotein vitamin E deficiency is consistent. Give vitamin E 1.5g / day, get clinical remission within one year. Example 2 10-year-old boy whose parents are cousins married. 5-year-old starting difficulty walking, 10-year-old accompanied by diffuse atrophy of weakness and tendon reflex disappeared, walking disorders, no sensory disturbances. Muscle biopsy found atrophy of muscle fiber cells, accumulation of lipofuscin-like substances, demyelination of nerve fibers, axonal degeneration. Serum vitamin E value 60μg / d1,