Dudoignon Benjamin, Peters Jochen, Paglietti Maria Giovanna, Garcia Teresa Maria Angeles, Samuels Martin, Markstrom Agneta, Madureira Nuria, Chaitidou-Kolb Panagiota, Bokov Plamen, Delclaux Christophe
Service de Physiologie Pédiatrique-Centre du Sommeil-CRMR Hypoventilations Alvéolaires Rares, INSERM NeuroDiderot, Université Paris-Cité, AP-HP, Hôpital Robert Debré, Paris, France.
Department of Pediatrics, CCHS Center in Germany/ Center for Patients With Home Ventilation, Children's Hospital Dritter Orden Munich, Munich, Germany.
Eur J Pediatr. 2025 Jan 30;184(2):161. doi: 10.1007/s00431-025-05969-1.
It is known that in most cases of congenital central hypoventilation syndrome (CCHS), apnoeas and hypoventilation occur at birth. Nevertheless, a detailed description of initial symptoms, including pregnancy events and diagnostic tests performed, is warranted in infants with neonatal onset of CCHS, that is, in the first month of life. The European Central Hypoventilation Syndrome Consortium created an online patient registry from which 97 infants (44 females) with CCHS of neonatal onset and PHOX2B mutation from 10 countries were selected. The typical pregnancy is characterized by polyhydramnios (44%), fetal heart rate abnormalities on cardiotocography (36%), emergency cesarean sections. (30%) and a normal gestational age (14% preterm birth). The typical findings within the first days are the presence of respiratory distress (96%), often necessitating rapid intubation (44%) and, less frequently, cardiopulmonary resuscitation at birth (14%). These symptoms lead to a suspicion of CCHS after (median [interquartile]) 7 days [4; 12] since birth that is confirmed by genotype testing at 32 days [22; 61]. Daytime evaluation of blood gas is a frequent assessment leading to CCHS suspicion (n = 61/97, 63%; 95% confidence interval: 52-72) while a polysomnography is obtained in 45/97 infants (46%, 95% confidence interval: 36-57), demonstrating NREM hypoventilation in 44/45 infants (98%).
Our multicentre descriptive study shows that polyhydramnios is overrepresented during pregnancy, rapid respiratory failure is the main symptom leading to intubation in approximately half of infants and daytime alveolar hypoventilation is the main indicator prompting genetic testing.
• The initial symptoms and exams leading to congenital central hypoventilation syndrome diagnosis have mainly been described in single centre studies.
• Our multicentre European study confirms that polyhydramnios is overrepresented during pregnancy and that polysomnography is obtained in half of the infants only.
众所周知，在大多数先天性中枢性低通气综合征（CCHS）病例中，出生时即出现呼吸暂停和通气不足。然而，对于新生儿期发病的CCHS婴儿，即出生后第一个月内发病的婴儿，有必要详细描述其初始症状，包括孕期情况和所进行的诊断检查。欧洲中枢性低通气综合征联盟创建了一个在线患者登记库，从中选取了来自10个国家的97例新生儿期发病且伴有PHOX2B突变的CCHS婴儿（44例女性）。典型的孕期表现为羊水过多（44%）、胎心监护显示胎儿心率异常（36%）、急诊剖宫产（30%）以及正常孕周（14%早产）。出生后最初几天的典型表现为呼吸窘迫（96%），通常需要紧急插管（44%），出生时较少需要进行心肺复苏（14%）。这些症状在出生后（中位数[四分位间距]）7天[4；12]引发对CCHS的怀疑，并在32天[22；61]通过基因检测得以确诊。日间血气评估是导致怀疑CCHS的常见检查（n = 61/97，63%；95%置信区间：52 - 72），而97例婴儿中有45例（46%，95%置信区间：36 - 57）进行了多导睡眠图检查，其中44/45例婴儿（98%）显示非快速眼动期通气不足。
我们的多中心描述性研究表明，孕期羊水过多的情况较为常见，快速呼吸衰竭是约半数婴儿需要插管的主要症状，日间肺泡通气不足是促使进行基因检测的主要指标。
• 导致先天性中枢性低通气综合征诊断的初始症状和检查主要在单中心研究中有所描述。
• 我们的欧洲多中心研究证实，孕期羊水过多的情况较为常见，且仅有半数婴儿进行了多导睡眠图检查。
