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患儿,男,2岁,第一胎第一产,足月顺产,出生体重3200克,无窒息、抽风和明显黄疸史。父母非近亲婚配。4个月认母,7个月会独坐,14个月独自走路,1岁6个月前生长发育正常。之后渐发现走路不稳,易跌跤,声音稍大即出现惊跳,2岁已不会走路,不会说话,引逗不笑,头颈常后仰。查体:发育营养一般,神志清,对周围环境无反应,视力存在,双眼球活动欠灵活,瞳孔对光反应迟钝,双下肢强直呈剪刀状交叉,肌张力增强,双膝腱反射亢进,双侧巴氏征阳性。CT 扫描示脑沟扩大,裂池扩大。外周血白细胞ASA(芳基硫
Children, male, 2 years old, the first birth of the first birth, term full-term birth, birth weight 3200 grams, without asphyxia, convulsions and obvious history of jaundice. Parents non-relatives marriage. 4 months admit mother, 7 months will sit alone, walk alone 14 months, 1 year old 6 months ago growth and development of normal. After gradually found walking instability, easy to fall, the sound is slightly larger that is astonishment, 2-year-old will not walk, can not speak, not to make funny, head and neck often Yang. Physical examination: development and nutrition in general, clear-headed, no reaction to the surrounding environment, visual acuity, binocular activity is not flexible, the pupil light reaction slow, double lower extremity ankylosis was scissors-like cross, muscle tension increased, double tendon hyperreflexia, Side of Pakistan’s positive sign. CT scan showed the sulci to expand, crack pool expansion. Peripheral leukocyte ASA (aryl sulfur