Abstract：
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of the autonomic nervous system involving multiple organ systems, with the hallmark symptom of respiratory failure due to aberrant central control of breathing resulting in hypoxemia and hypercapnia. Later onset CCHS (LOCCHS) is defined as the diagnosis of CCHS in children older than 1 month. Molecular genetic testing for PHOX2B variants has led not only to increased diagnosis of neonates with CCHS but also the increased identification of older children, adolescents, and adults with LOCCHS who may have a milder clinical presentation of this multisystem disease.
摘要：
先天性中枢通气不足综合征（CCHS）是一种罕见的涉及多器官系统的自主神经系统疾病，由于呼吸的异常中央控制导致低氧血症和高碳酸血症，具有呼吸衰竭的标志性症状。晚期CCHS（LOCCHS）定义为1个月以上儿童的CCHS诊断。PHOX2B变异的分子遗传学检测不仅增加了新生儿CCHS的诊断，而且增加了对大龄儿童的识别。青少年,以及患有LOCCHS的成年人，他们可能对这种多系统疾病有较温和的临床表现。
