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小脑共济失调和白化病是两个截然不同的常染色体隐性遗传病,此二病的复合存在,从遗传学的角度来看是很有趣的。本文作者报告了一个家系,其成员既有白化病患者,又有共济失调患者,其中一个同胞二病并存。例一,先证者,男,18岁。12岁起病,先出现进行性步态不稳和语言改变,15岁时出现书写困难,字迹模糊不清,尿急,偶有尿失禁。体查发现断续性构音障碍,侧视时出现双侧水平性眼颤,肌张力低,腱反射减弱,双侧蹠反射屈性。指鼻试验不准,轮替运动障碍,反跳试验阳性,意向性震颤和共济失调步态。双侧所有感觉包括位置觉和震动觉均正常。无弓形足、眼及皮肤无白化表现。实验室检查如血常规、尿常规和培养、血生化检查、心电图和胸透等均正常。运动及感觉神经传导速度测定无异
Cerebellar ataxia and albinism are two distinct autosomal recessive disorders, and the combined presence of these two diseases is interesting from a genetic point of view. The authors report a pedigree whose members have both albinism and ataxia, and one fellow patient coexists with the other. Example One, proband, male, 18 years old. 12-year-old onset, the first progressive gait instability and language changes, 15-year-old writing difficulties, blurred writing, urgency, occasional urinary incontinence. Physical examination found intermittent dysarthria, lateral bilateral bilateral nystagmus, low muscle tone, weakened tendon reflex, bilateral plantar reflex and flexion. Finger nose test is not allowed, rotation dyskinesia, rebound test was positive, intention tremor and ataxia gait. All sensations on both sides, including location and vibration were normal. No bow-shaped feet, eyes and skin no bleaching performance. Laboratory tests such as blood, urine and culture, blood biochemistry, electrocardiogram and chest X-ray and so normal. Exercise and sensory nerve conduction velocity was no different