摘要
目的探讨先天性中枢性低通气综合征(CCHS)的临床特点、误诊原因及预防措施。方法回顾性分析2019年1月至2021年1月被误诊的2例CCHS患儿的临床资料及遗传学报告。结果2例均为新生儿期发病,以发绀入院,病程中出现呼吸浅慢、二氧化碳潴留、反复撤机失败、惊厥。曾诊断为新生儿肺炎、Ⅱ型呼吸衰竭。最终基因测序证实2例均为PHOX2B基因变异,临床及基因结果符合CCHS诊断。误诊时间为2周和8 d。2例给予无创或有创呼吸支持、抗感染、止惊治疗,1例住院18 d出院,出院后睡眠时自备家庭式无创呼吸机辅助通气治疗,随访至4月龄时患儿夜间意外死亡。1例住院第40天家属签字放弃治疗约2 h死亡。结论CCHS临床表现缺乏特异性,早期易误诊为肺炎、先天性心脏病、颅内出血等。掌握CCHS临床特点并及时行基因检测是减少和避免误诊误治的关键。
Objective To investigate the clinical features,causes of misdiagnosis and preventive measures of congen-ital central hypoventilation syndrome(CCHS).Methods The clinical data and genetic reports of 2 children with CCHS who were misdiagnosed and mistreated in Department of Neonatology of our hospital from January 2019 to January 2021 were retro-spectively analyzed.Results Both patients were hospitalized with cyanosis in the neonatal period.During the course of the disease,there were shallow and slow breathing,carbon dioxide retention,repeated failure of withdrawal and convulsion.It was diagnosed as neonatal pneumonia and typeⅡrespiratory failure.The final gene sequencing confirmed PHOX2B gene mu-tation in the 2 cases,and the clinical and genetic results were consistent with the CCHS diagnosis.The duration of diagnosis was 2 weeks and 8 d.Both patients were given non-invasive and invasive respiratory support,anti-infection,and antipanic treatment.One patient was hospitalized for 18 d and discharged from hospital.After discharge,the patient was given self-prepared home style non-invasive ventilator assisted ventilation treatment while sleeping.The child died unexpectedly at night when followed up until the age of 4 months.One patient died at 2 h after the family member signed to give up treatment on the 40th day of hospitalization.Conclusion The clinical manifestations of CCHS lack specificity and are easily misdiagnosed in the early stages as pneumonia,congenital heart disease,and intracranial hemorrhage.Understanding the clinical characteris-tics of CCHS and timely gene detection are the key to reducing and avoiding misdiagnosis and treatment.
作者
赵智慧
刘洋
张勇
张衡
朱书瑶
陈艾
ZHAO Zhihui;LIU Yang;ZHANG Yong;ZHANG Heng;ZHU Shuyao;CHEN Ai(Department of Neonate,Sichuan Maternal and Child Health Hospital,Chengdu 610031,China)
出处
《临床误诊误治》
CAS
2024年第16期1-5,共5页
Clinical Misdiagnosis & Mistherapy
基金
成都市2021年度财政科技项目(2021⁃YF05⁃01658⁃SN)。
