目的对未经新生儿筛查发现的苯丙酮尿症患儿43例的诊断治疗及误诊情况进行分析。方法根据患儿起病及诊疗经过,就其临床症状、体征、就诊年龄、确诊年龄、误诊情况进行分析和讨论。结果误诊为脑瘫34.9%,微量元素缺乏18.6%,癫痫11.63%,维生素缺乏性佝偻病10.75%,以上误诊占全部病例的2/3以上。结论误诊使很多患儿失去了治疗时机,因此,临床医生必须提高对本病的认识,减少误诊及早确诊并开始正规的治疗,应在新生儿期开展新生儿筛查,这是挽救患儿,预防残废的重要措施。 Objective To analyze the diagnosis, treatment and misdiagnosis of 43 children with phenylketonuria discovered without neonatal screening. Methods According to the onset and diagnosis and treatment of children, the clinical symptoms, signs, the age of diagnosis, the age of diagnosis, the diagnosis of misdiagnosis were analyzed and discussed. The results were misdiagnosed as cerebral palsy 34.9%, trace elements lack of 18.6%, epilepsy 11.63%, vitamin deficiency rickets 10.75%, accounting for more than 2/3 of all cases of misdiagnosis. Conclusion Misdiagnosis makes many children lose the opportunity of treatment. Therefore, clinicians must raise awareness of the disease, reduce misdiagnosis and early diagnosis and begin regular treatment. Neonatal screening should be carried out in the neonatal period, which is to save children, Important measures to prevent disability.