患儿男 ,5个月 ,5d前出现阵发性喘憋、恶心、频繁呕吐 ,伴吃奶差。近 1周体重下降 1 0～ 1 5kg。自出生后即大便较干 ,5～ 6d排便 1次。 3个月时会抬头且能翻身至侧卧位 ,现不能。父母非近亲结婚 ,否认家族中遗传病史。体检 :T 36 8℃ ,P 12 6 /min ,体重5 0kg ,发育正常。呼 Children male, 5 months, 5d before the onset of paroxysmal wheezing, nausea, frequent vomiting, with poor feeding. Nearly 1 week weight loss 10 ~ 15kg. Stool after birth that is dry, 5 ~ 6d defecation 1 time. 3 months will rise and can stand up to the lateral position, now can not. Parents marry non-relatives, deny the family history of genetic disease. Physical examination: T 36 8 ℃, P 12 6 / min, weight 50kg, normal development. call