论文部分内容阅读
例1,女,1岁3个月,患儿生后头3个月发育尚正常,此后发现渐不能抬头,全身软弱,表情呆滞,对周围无反应,流涎,半岁后出现反复抽搐,仍不能坐,不认识父母。大便正常,小便有“霉臭”。第一胎,足月平产,出生时哭声宏亮。母乳喂养。父母体健,非近亲结婚,家族中无智力障碍者。父母尿氯化高铁试验及血苯丙氨酸均正常。体查:体重11kg,身高71.5cm,头围42cm,智力发育极差,对周围无反应,不能坐,不能直立,皮肤白嫩,湿润,
Example 1, female, 1 year old 3 months, the first 3 months after birth, children still normal development, then found gradually can not rise, weak body, dull expression, no response to the surrounding, drooling, repeated seizures after the age of six, still can not Sit, do not know their parents. Normal stool, urine, “moldy smell.” The first child, term full-term, born crying loud. Breastfeeding. Healthy parents, non-relatives married, no mental retardation in the family. Urinary chloridation of high iron parents test and blood phenylalanine were normal. Physical examination: weight 11kg, height 71.5cm, head circumference 42cm, very poor mental development, no reaction to the surrounding, can not sit, can not stand up, the skin white and tender, moist,