Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.
Hino Aoi, Terada Jiro, Kasai Hajime, +5 more·Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
STUDY OBJECTIVES: Congenital central hypoventilation syndrome (CCHS) is caused by the paired-like homeobox 2B (PHOX2B) mutation and predominantly diagnosed during the neonatal period. Although late-onset CCHS and PHOX2B mutation carriers have been reported, the features of these disease states in adults remain uncertai…