Children with congenital central hypoventilation syndrome (CCHS) have a PHOX2B mutation-induced control of breathing deficit necessitating artificial ventilation as life support. A subset of CCHS families seek phrenic nerve-diaphragm pacing (DP) during sleep with the goal of tracheal decannulation. Published data regarding DP during sleep as life support in the decannulated child with CCHS and related airway dynamics in young children are limited. We report a series of 3 children, ages 3.3-4.3 years, who underwent decannulation. Sleep endoscopy performed during DP revealed varied (oropharynx, supraglottic, glottic, etc.) levels of complete airway obstruction despite modification of pacer settings. Real-time analysis of end tidal CO2 and SpO2 confirmed inadequate gas exchange. Because the families declined re-tracheostomy, all 3 patients rely on noninvasive mask ventilation as a means of life support while asleep. These results emphasize the need for extreme caution in proceeding with tracheal decannulation in young children with CCHS who expect to use DP during sleep as life support. Parents and patients should anticipate that they will depend on noninvasive mask ventilation (rather than DP) during sleep after undergoing decannulation. This information may improve management and guide expectations regarding potential decannulation in young paced children with CCHS.
- Congenital central hypoventilation syndrome
- Diaphragm pacing
- Upper airway obstruction
ASJC Scopus subject areas
- Pulmonary and Respiratory Medicine