Crowell Bresney A, Bissinger Robin L, Conway-Orgel Margaret
Medical University of South Carolina, Charleston, SC 29425, USA.
Adv Neonatal Care. 2011 Jun;11(3):167-72. doi: 10.1097/ANC.0b013e31821cfe26.
Congenital central hypoventilation syndrome (CCHS) is a relatively rare, life-threatening, and lifelong multisystem disorder characterized by autonomic nervous system dysfunction, which mostly manifests as failure to maintain ventilatory homeostasis during sleep. Infants with CCHS have inadequate sensitivity to hypoxia and hypercapnia during sleep and in some cases during wakefulness, leading to persistent apnea. This article reports a case of CCHS in a 38-week-gestation infant who presented on day of life 2 with persistent apnea. Diagnosis of primary pulmonary, cardiac, metabolic, neurologic disease, or injury was excluded before the diagnosis of CCHS was made. The diagnosis was confirmed by a PHOX2B sequence analysis. A tracheotomy was performed and the infant was discharged home on a home ventilator with outpatient follow-up. The clinical presentation of CCHS, as well as diagnosis and treatment strategies, is reviewed.
先天性中枢性低通气综合征（CCHS）是一种相对罕见、危及生命且伴随终身的多系统疾病，其特征为自主神经系统功能障碍，主要表现为睡眠期间无法维持通气稳态。患有CCHS的婴儿在睡眠期间以及某些情况下在清醒时对低氧和高碳酸血症的敏感性不足，导致持续性呼吸暂停。本文报告了一例孕38周的婴儿，该婴儿在出生后第2天出现持续性呼吸暂停，被诊断为CCHS。在诊断CCHS之前，排除了原发性肺部、心脏、代谢、神经疾病或损伤。通过PHOX2B序列分析确诊。进行了气管切开术，婴儿带着家用呼吸机出院并接受门诊随访。本文对CCHS的临床表现以及诊断和治疗策略进行了综述。
