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目的:分析先天性中枢性低通气综合征(congenital central hypoventilation syndrome，CCHS)的临床和基因特征，提高对新生儿期发病的CCHS的认识。方法:选择2015年8月至2019年1月湖北省妇幼保健院新生儿科收治的CCHS患儿，对其临床表现、诊断和基因检测结果等进行总结分析。结果:共收治5例CCHS患儿，男2例，女3例，均为足月剖宫产，轻度窒息3例。患儿均有呼吸表浅、肤色发绀、反应差、肌张力低下等CCHS典型表现，均需有创呼吸机辅助通气，改无创通气均失败2次以上。1例合并巨结肠，2例胃肠动力不足，3例有抽搐表现。5例患儿均在放弃治疗后死亡。基因检测结果均为PHOX2B基因突变，4例突变类型为多聚丙氨酸重复扩展突变，包括20/26型2例，20/27型1例，20/30型1例；1例为非多聚丙氨酸重复扩展突变，PHOX2B基因3号外显子移码突变(c.836_843del)，导致翻译提前终止，目前国内尚未见报道。结论:CCHS在新生儿期发病以呼吸机依赖为主要表现，常合并巨结肠、胃肠动力不足，部分有神经系统表现，病死率高，多为PHOX2B基因突变，对怀疑CCHS的新生儿应尽早行基因检测明确诊断，以指导治疗。“,”Objective:To study the clinical and genetic characteristics of congenital central hypoventilation syndrome (CCHS).Method:Clinical manifestations and gene test results of newborns who were admitted to the Department of Neonatology, Maternal and Child Health, Hospital of Hubei Province from August 2015 to January 2019 and diagnosed with CCHS were collected and analyzed. Clinical diagnosis and genetic test results of these infants with CCHS were summarized and analyzed.Result:A total of five CCHS infants were identified, including two males and three females, all of whom were full term and delivered through cesarean section and three with mild asphyxia at birth. All of the infants had typical clinical features of CCHS, which included hypopnea, hypotonia, cyanosis, decreased responsiveness, etc. All of them received mechanical ventilation, and each failed of weaning twice. One patient was complicated with megacolon, two had gastrointestinal insufficiency and three had convulsions. All the five infants died after withdrawl of therapy. Genetic test of all the five infants showed PHOX2B gene mutations, among which four cases attributed to polyalanine repeat expansion mutation (PARM), including two cases of type 20/26, one case of type 20/27, and one case of type 20/30.The other case is a non-PARM (NPARM) type mutation, which is exon 3 of PHOX2B gene transcoding mutation (c.836_843del). The transcoding started from amino acid Pro at the 279th position and led to the early termination of translation, which has not been reported in China.Conclusion:In neonatal period, the main clinical feature of CCHS is ventilator-dependent, often combined with megacolon, gastrointestinal insufficiency, or neurological manifestations, and the mortality is high. Comprehensive literature shows that over 90% of CCHS is caused by PHOX2B gene mutation, the genotype and phenotype have a certain correlation. Genetic test should be conducted as soon as the clinical suspicion of CCHS is made. Genetic results can be used as the basis for diagnosis of CCHS and the guidance of treatment and prognosis. Effective respiratory support and standard follow-up can improve the prognosis of patients with CCHS.