Congenital central hypoventilation syndrome with PHOX2B mutation in Saudi Arabia: a- single center experience

CCHS is a rare condition in which there is no respiratory response to hypoxia or hypercarbia during sleep in the absence of any lung or neuromuscular diseases or identifiable brainstem lesions. CCHS typically presents in the newborn period. Three cases with varying clinical presentations at the Pediatric ICU (PICU) at Prince Sultan Military Medical City (PSMMC) in Riyadh between 2008 and 2013 are reported. All cases involved sleep study findings that are typical of CCHS, and the diagnosis was confirmed by molecular genetic analysis.