先天性中枢性低通气综合征2例误诊分析  

Analysis on 2 cases of misdiagnosed congenital central hypoventilation syndrome

作　　者：李建 薛丽丽 张可刚[1] LI Jian;XUE Lili;ZHANG Kegang(Department of Neonatology,Maternity and Child Health Care Hospital of Zaozhuang in Shandong Province,Shandong,Zaozhuang 277000,China)

机构地区：[1]山东省枣庄市妇幼保健院新生儿科,山东枣庄277000

出　　处：《中国医药科学》2023年第10期191-193,共3页China Medicine And Pharmacy

摘　　要：目的 探讨先天性中枢性低通气综合征误诊的原因。方法 对2例误诊的先天性中枢性低通气综合征新生儿进行临床资料描述分析。结果 1例系早产儿,反复青紫、血气二氧化碳增高为主要临床表现,误诊为早产所致;l例表现为呼吸浅表、睡眠呼吸暂停、二氧化碳增高,误诊为肺炎所致;基因检测明确诊断先天性中枢性低通气综合征。结论 临床上遇到睡眠时呼吸浅表及呼吸暂停,上机时患儿过度通气,撤机后患儿又有明显的二氧化碳增高,需行基因检测,避免误诊。Objective To investigate the causes of misdiagnosis of congenital central hypoventilation syndrome.Methods The clinical data of two neonates with misdiagnosed congenital central hypoventilation syndrome were analyzed.Results One case was a premature infant with recurrent cyanosis and elevated blood gas carbon dioxide as the main clinical manifestations,who was misdiagnosed as a result of prematurity.The other case with hypopnea,sleep apnea and elevated carbon dioxide as the main clinical manifestations,who was misdiagnosed as a result of pneumonia.Both of them were then accurately diagnosed as congenital central hypoventilation syndrome by genetic examination.Conclusion When clinically encountering hypopnea and apnea during sleep,hyperventilation during ventilator support,and obvious carbon dioxide elevation after removal of ventilator in children,genetic examination is required,so as to avoid misdiagnosis.

关 键 词：先天性中枢性低通气综合征 新生儿 基因 睡眠呼吸暂停 

分 类 号：R725.6[医药卫生—儿科]