儿童Prader-Willi综合征并发代谢综合征1例并文献复习

Prader-Willi syndrome complicating metabolic syndrome in children:a case report and literature review

目的总结Prader-Willi综合征(PWS)并发代谢综合征的临床特点及诊断策略。方法收集湖北省妇幼保健院儿童内分泌科2015年10月收治的1例Prader-Willi综合征并发代谢综合征患儿病例资料,分析其临床特点、基因诊断结果并复习相关文献。结果该例患儿在新生儿期及婴儿期出现肌张力低下、喂养困难、特殊面容,伴有性腺发育不良,儿童期出现体温调节紊乱,不能控制的过度摄食,体重增加迅速,逐渐出现高血压、睡眠障碍。对该例患儿采用染色体微阵列技术(CMV)分析明确了染色体缺失的位置及大小,结合临床症状,可以明确诊断PWS。结论新生儿科及儿科医生应加强对Prader-Willi综合征的识别和筛查,避免漏诊、误诊,以便在发生严重并发症之前积极干预,改善预后。

Objective To summarize the clinical features of Prader-Willi syndrome（PWS）complicating metabolic syndrome（MS）and diagnosis strategy.Methods The clinical data of one case of PWS complicating MS admitted in pediatics department of endocrinology and genetics metabolism in Maternal and Child Health Care Hospital of Hubei Province in October 2015 was collected to analyze its clinical features and gene diagnosis results,and related documents were reviewed.Results This case had hypotonia,feeding difficulty and special face combined with gonadal dysgenesis in neonatal period and infancy,and had thermoregulation disorders,uncontrolled excessive feeding,rapidly increased body weight,gradual emergence of hypertension and sleep disorders in childhood.The chromosomal microarray technology（CMV）was used to analyze the location and size of chromosome deletion,and the diagnosis of PWS could be established combined with clinical symptoms.Conclusion Doctors of neonatology and pediatricians should strengthen the identification and the screening of PWS to avoid misdiagnosis and missed diagnosis in order to take active intervention and improve the prognosis before serious complications occur.