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[Congenital Central Hypoventilation Syndrome: neonatal diagnosis and management].

Andes pediatrica : revista Chilena de pediatria - 1 Jun 2024

Valdés Carrillo Monserrat, Diaz Caamaño Marcela, Prado Atlagic Francisco, Huerta Armijo Antonio, García Mora Mirna, Hernandez Gómez Alejandra, D Alessandri Demelchiore Romina

Abstract excerpt

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). OBJECTIVE: To report a neonatal case successfully treated with non-invasive ventilatory support...

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Homeodomain Proteins
Hypoventilation
Infant, Newborn
Mutation
Sleep Apnea, Central

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39093216
DOI: 10.32641/andespediatr.v95i3.5044

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