患儿男 ,2 6d ,因呛咳、气促伴反复惊厥于 2 0 0 2年 5月 8日入院。患儿系第 1胎第 1产 ,足月顺产 ,否认窒息史 ,出生体重 30 0 0 g ,其母 4 4岁 ,其父 4 8岁 ,身体健康 ,非近亲婚配 ,否认家族遗传病史。入院查体 :T 37 5℃ ,P 15 6 /min ,R5 2 /min ,精神反应弱 ,口唇发绀 ,下 Children male, 26d, due to cough, shortness of breath with recurrent convulsions in May 8, 2002 admission. Children with first-born fetus 1, term full-term birth, deny the history of asphyxia, birth weight 30 0 g, the mother 44 years old, his father 48 years old, healthy, non-relatives marriage, denied family history of genetic disease. Admission examination: T 37 5 ℃, P 15 6 / min, R5 2 / min, mental reaction weak, cyanotic lips, under