DIFFERENTIAL DIAGNOSIS

As noted earlier, congenital central hypoventilation

rare pediatric disorder of the ANS and respiratory

caused by mutations in the PHOX2B gene

role in the differentiation and development

crest progenitor cells. The hallmark feature of

hypoventilation while sleeping (and in some

As with ROHHAD patients, CCHS patients

support, typically by tracheostomy and mechanical

ROHHAD, however, CCHS usually presents

although late-onset CCHS has been diagnosed

adolescence, and even adulthood. CCHS

symptoms of ANS dysregulation, including altered

and altered vasomotor tone, altered temperature

mologic manifestations, and reduced gastrointestinal

CCHS patients are not obese and do not

hypoventilation is observed, a simple blood

diagnosis by looking for PHOX2B mutations

are not identified and the other features of

are identified, a ROHHAD diagnosis must

Prader-Willi syndrome (PWS) is similarFor scbd something 2