雷特综合症(Rett Syndrome,RS)又称大脑萎缩性高氨血症,此病罕见,国内很少报道,兹将所见一例报告如下:患儿,女,3岁,系第一胎,第一产,足月顺产;人工喂养。3个月能抬头,逗引会笑;6个月认父母,看见身边玩具全身乱动,有欲取之意。自10个月后,对外界反应逐渐减少,看见父母失去原有喜悦表情,对周围事物无反应,不能用手持玩具,经常阵发性大口喘气,左顾右盼,自发微笑,全身不自主多动,继而双手前后上下摆动、揉搓、绞拧拍击及洗手样动 Rett syndrome (Rett Syndrome, RS), also known as atrophic hyperammonemia, the disease is rare, rarely reported in China, we will see a case as follows: children, women, 3 years old, the first child, The first production, term full-term; artificial feeding. 3 months can rise, chatting funny; 6 months to recognize parents, see the whole body around the toy, want to take meaning. Since 10 months later, the response to the outside world has been gradually diminishing. I can see that parents have lost their original expressions of joy and have no reaction to the surroundings. They can not hold their toys and often piss in their mouths, looking around spontaneously, spontaneously smiling and involuntarily hyperactivated. Swing hands up and down, rub, twist twist and hand-wash like