小脑性共济失调和白化病都是常染色体隐性遗传性疾病.一名患者同时患有这两种疾病引起了遗传学家的兴趣.本文报告了一家族同胞中有一人同时患有小脑性共济失调和白化病.病例报告先证者,男性,18岁.12岁开始逐渐步态不稳,语言障碍.15岁始书写困难,字迹难以辨认,尿急.体检示上胸段脊柱向右侧弯,无白化病表现.有小脑性语言障碍,两眼水平性震颤,侧向凝视.两下肢肌张力减退,肌力4级,两侧腱反射迟钝,跖反射正常,指鼻试验不准,轮替运动 Cerebellar ataxia and albinism are autosomal recessive disorders, and it is of genetic interest for both to suffer from both diseases in one patient.This report reports that one of the sibs of a family has cerebellar co-occurrence Economic disorders and albinism. Case report Proof, male, 18 years old. Gradually gradually gait instability at age 12, language barriers. 15-year-old writing difficulties, handwriting illegible, urgency. Physical examination showed thoracic spine to the right Bent, no albino disease performance .Country cerebellar language disorders, two horizontal tremor, lateral gaze .Lower limb muscle tension decreased, muscle strength 4, bilateral tendon reflexes, normal plantar reflex, finger nose test is not allowed, round For sports