What is it about?
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.
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Why is it important?
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.
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This page is a summary of: Rare cause of neonatal apnea from congenital central hypoventilation syndrome, BMC Pediatrics, February 2022, Springer Science + Business Media,
DOI: 10.1186/s12887-022-03167-8.
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