Congenital Central Hypoventilation Syndrome: neonatal diagnosis and management

• Published in: Andes pediatrica : revista Chilena de pediatría 2024-06, Vol.95 (3), p.303
• Main Authors: Valdés Carrillo, Monserrat, Diaz Caamaño, Marcela, Prado Atlagic, Francisco, Huerta Armijo, Antonio, García Mora, Mirna, Hernandez Gómez, Alejandra, D Alessandri Demelchiore, Romina
• Format: Article
• Language: Spanish
• Subjects: Acidosis, Respiratory - diagnosis; Acidosis, Respiratory - etiology; Acidosis, Respiratory - therapy; Continuous Positive Airway Pressure; Female; Homeodomain Proteins - genetics; Humans; Hypoventilation - congenital; Hypoventilation - diagnosis; Hypoventilation - genetics; Hypoventilation - therapy; Infant, Newborn; Mutation; Noninvasive Ventilation; Oxygen Inhalation Therapy; Sleep Apnea, Central - diagnosis; Sleep Apnea, Central - genetics; Sleep Apnea, Central - therapy; Transcription Factors - genetics
• ISSN: 2452-6053; 2452-6053
• DOI: 10.32641/andespediatr.v95i3.5044

Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic condition affecting the autonomic nervous system and respiratory center due to mutations in the PHOX2B gene, and it is associated with alveolar hypoventilation during sleep and sudden death. It requires early invasive mechanical ventilation (IMV). To report a neonatal case successfully treated with non-invasive ventilatory support (NVS), avoiding tracheostomy. Full-term newborn, whose mother uses nocturnal NVS due to CCHS. During the transition period, she presented desaturations associated with hypercapnia and respiratory acidosis, without pulmonary involvement. She developed severe hypoventilation during sleep, with no respiratory effort, peripheral oxygen saturation (SpO2) < 80%, plus respiratory acidosis. While awake, she had good respiratory effort and normal SpO2 without assistance. Noninvasive continuous positive airway pressure and oxygen therapy worsened her condition while sleeping. Complete NVS with nasal interface and bi-level airway positive pressure, inspiratory/expiratory pressure 14-16/4 cm H2O, normalized SpO2 during sleep, and arterial blood gases while awake. Sequencing of the PHOX2B gene confirmed the presence of a heterozygous pathogenic variant with the 20/26 genotype. At 2 months of age, she was discharged maintaining NVS with nasal interface and 0 PEEP, achieving adequate neurodevelopment. We highlight the importance of genetic diagnosis of CCHS in neonates with clinical presentation of early alveolar hypoventilation, especially if there is a family history. We are not aware of other reports of neonatal onset in which NVS prevents IMV, in this potentially lethal pathology.