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.
关键词
先天性中枢性低通气综合征/新生儿/PHOX2B基因/误诊/新生儿肺炎/呼吸衰竭/惊厥/发绀
Key words
Congenital central hypoventilation syndrome/Neonate/PHOX2B gene/Misdiagnosis/Neonatal pneumo-nia/Respiratory failure/Convulsions/Cyanosis
维普
万方数据