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作者报告两同胞兄弟以共济失调为主要表现的VitE缺乏症。例1,男,37岁。出生及幼儿期正常。6岁时,步行不稳,头震颤,智能显出低下。走路摇晃且进行性加重。伴下肢无力易摔倒。37岁时,肢端触电感。检查:双眼白内障,腭弓高。智力差,断续语言。面、四肢肌萎缩,小脑和感觉性共济失调。肢端深浅感觉障碍。跟腱反射消失,病理征(-)。血中未见棘状RBC。血糖及糖耐量试验正常,IgA略高。白血球氨基己糖苷酯酶正常。CSF梅毒反应(-)。血VitB_1、B_(12)、叶酸、β—脂蛋白及凝血酶元时间正常。大便脂肪定量正常。血VitE浓度显著降低,负荷试验消除时间不亢进。脑CT示小脑萎缩,杭大池扩大小脑蚓部萎缩。EMG示神经元多相电位,
The authors report that vitiligo deficiency is the main manifestation of ataxia between the two sibs. Example 1, male, 37 years old. Birth and early childhood normal. 6 years old, unstable walking, head tremor, intelligence showed low. Walking shaking and aggravating. Accompanied by lower limb weakness easily fall. 37 years old, the limbs touch the inductance. Check: binocular cataract, palatal arch high. Poor intelligence, intermittent language. Facial, limb muscle atrophy, cerebellar and sensory ataxia. Extremity sensation. Achilles tendon reflex disappeared, pathological sign (-). No spiny RBC in the blood. Normal blood glucose and glucose tolerance test, IgA slightly higher. Leukocytosine hexosidine esterase normal. CSF syphilis response (-). Blood VitB_1, B_ (12), folic acid, β-lipoprotein and thrombin time were normal. Stool fat quantitative normal. Blood VitE concentration was significantly reduced, stress test to eliminate time is not hyperthyroidism. Cerebral CT showed cerebellar atrophy, Hang large pool to expand cerebellar vermis atrophy. EMG showed multiphase potential of neurons,