患儿,女,8岁,系孕4产3,足月顺产。初生哭声响亮,面色红润,无窒息史,周岁内无病史可询。一岁半后其发育较同龄儿童落后,至今仅能独坐,不能站立和行走,搀扶行走迈步困难,不会讲话。外界强刺激稍有反应,胆小怕生人,经常全身颤动、易惊、易怒,大便干结,小便气味大且短。父母非近亲结婚,父母及近亲中无类似疾病,无先天畸形,无智力低下。 Children, women, 8 years old, Department of pregnancy 4 3, term full-term. Crying loud newborn, looking rosy, no history of asphyxia, no medical history at the age of inquiry. One and a half years later, its development is lagging behind that of its children of the same age. So far, it can only sit alone, can not stand and walk, and it is difficult to walk and walk and can not speak. Stimulus to the outside world a little reaction, timid afraid of strangers, often body trembling, easy to panic, irritability, stool dry, urine odor and short. Parents of non-relatives married, parents and close relatives without a similar disease, no congenital malformations, no mental retardation.