维生素E 缺乏引起进行性神经肌病,表现为反射消失、运动失调、震动觉缺失和表现不一的眼肌麻痹,但严重的视力缺失和延髓麻痹尚未见报导。作者报告1例14岁的男孩,诊断为先天性胆汁生成障碍和慢性胆汁性肝硬化,进行性神经肌肉功能障碍伴显著的视力缺失和延髓功能障碍已7年。7岁时以 Vitamin E deficiency causes progressive neuromuscular disease, manifested as loss of reflex, ataxia, loss of sensation of vibration and ophthalmoplegia with varying manifestations, but severe vision loss and bulbar paralysis have not been reported. The authors report a 14-year-old boy diagnosed with congenital biliary and chronic biliary cirrhosis, progressive neuromuscular dysfunction with significant visual impairment and bulbar dysfunction for 7 years. At 7 years old