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目的分析苯丙酮尿症(PKU)误诊为脑性瘫痪的原因。方法对10a来未经新生儿筛查的43例PKU,误诊为脑性瘫痪15例,对其诊治经过及误诊情况进行分析。结果误诊率达34.9%(15/43),其中痉挛型7例,迟缓型6例,混合型2例。结论儿科医生对本病的临床特点缺乏认识,患儿出现症状未及时就医,是误诊的主要原因。开展新生儿筛查是预防伤残的重要措施。
Objective To analyze the causes of misdiagnosis of phenylketonuria (PKU) as cerebral palsy. Methods A total of 43 cases of PKU without neonatal screening in 10 years were misdiagnosed as cerebral palsy. Fifteen cases were analyzed for their diagnosis and treatment and misdiagnosis. Results The rate of misdiagnosis was 34.9% (15/43), including 7 cases of spasticity, 6 cases of delayed type and 2 cases of mixed type. Conclusion Pediatricians lack of understanding of the clinical features of the disease, children with symptoms not timely medical treatment, is the main reason for misdiagnosis. Neonatal screening is an important measure to prevent disability.