Article
Rare cause of neonatal apnea from congenital central hypoventilation syndrome.
BMC pediatrics - 24 Feb 2022
Tovichien Prakarn, Rattananont Krittin, Kulthamrongsri Narathorn, Chanvanichtrakool Mongkol, Yangthara Buranee
Abstract excerpt
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...
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