Rare cause of neonatal apnea from congenital central hypoventilation syndrome
Issued Date
2022-12-01
Resource Type
eISSN
14712431
Scopus ID
2-s2.0-85125308421
Pubmed ID
35209861
Journal Title
BMC Pediatrics
Volume
22
Issue
1
Rights Holder(s)
SCOPUS
Bibliographic Citation
BMC Pediatrics Vol.22 No.1 (2022)
Suggested Citation
Tovichien P., Rattananont K., Kulthamrongsri N., Chanvanichtrakool M., Yangthara B. Rare cause of neonatal apnea from congenital central hypoventilation syndrome. BMC Pediatrics Vol.22 No.1 (2022). doi:10.1186/s12887-022-03167-8 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/85341
Title
Rare cause of neonatal apnea from congenital central hypoventilation syndrome
Author's Affiliation
Other Contributor(s)
Abstract
Background: Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by mutations in the Paired-Like Homeobox 2B (PHOX2B) gene. It causes alveolar hypoventilation and autonomic dysregulation. This report aimed to raise awareness of this rare cause of neonatal apnea and hypoventilation as well as described the diagnostic work up to confirm the diagnosis in resource-limited setting where polysomnography for neonate is unavailable. Case presentation: A late preterm female newborn born from a non-consanguineous primigravida 31-year-old mother had desaturation soon after birth followed by apnea and bradycardia. After becoming clinically stable, she still had extubation failure from apnea without hypercapnic ventilatory response which worsened during non-rapid eye movement (NREM) sleep. After exclusion of other etiologies, we suspected congenital central hypoventilation syndrome and sent genetic testing. The result showed a PHOX2B gene mutation which confirmed the diagnosis of CCHS. We gave the patient’s caregivers multidisciplinary home respiratory care training including tracheostomy care, basic life support, and simulation training for respiratory problem solving. Then, the patient was discharged and scheduled for follow-up surveillance for associated conditions. Conclusion: Diagnosis of CCHS in neonates includes the main clue of the absence ofhypercapnic ventilatory response which worsens during non-rapid eye movement(NREM) sleep after exclusion of other causes. Molecular testing for PHOX2Bgene mutation was used to confirm the diagnosis.