Later Onset Congenital Central Hypoventilation Syndrome.

Abstract

Congenital central hypoventilation syndrome (CCHS) is a rare disorder of the autonomic nervous system involving multiple organ systems, with the hallmark symptom of respiratory failure due to aberrant central control of breathing resulting in hypoxemia and hypercapnia. Later onset CCHS (LOCCHS) is defined as the diagnosis of CCHS in children older than 1 month. Molecular genetic testing for PHOX2B variants has led not only to increased diagnosis of neonates with CCHS but also the increased identification of older children, adolescents, and adults with LOCCHS who may have a milder clinical presentation of this multisystem disease.