小儿进行性共济失调的鉴别诊断包括:费里德赖希共济失调、毛细血管扩张性共济失调、雷费素姆病以及B—脂蛋白缺乏症,胆汁瘀积性肝病,腹腔疾病,短肠综合症,囊性纤维化等维生素E缺乏所致的脊髓小脑综合征。脂肪吸收障碍时Vit E缺乏可引起特异性进行性类费里德赖希共济失调神经综合征,该病可能属于常染色体隐性遗传。 病例:女,6岁,以步态异常住院。早产,婴儿期 Differential diagnosis of pediatric ataxia include: Freidlies ataxia, telangiectasia ataxia, Refeld’s disease and B-lipoprotein deficiency, cholestatic liver disease, celiac disease, Short bowel syndrome, cystic fibrosis and other vitamin E deficiency caused by Spinocerebellar syndrome. Vit E deficiency during fat-maladaptation causes a specific progressive Feidi Reich’s Ataxia Nervous Syndrome, which may be autosomal recessive. Case: Female, 6 years old, with abnormal gait. Premature delivery, infancy