Positional impairment of gas exchange during diaphragm pacing alleviated by increasing amplitude settings in congenital central hypoventilation syndrome.

Diaphragm pacing (DP) by phrenic nerve stimulation is a modality of chronic ventilatory support in individuals with congenital central hypoventilation syndrome (CCHS). We report a 9-year-old girl with CCHS who uses DP without tracheostomy during sleep. Her parents report hypoxemia and hypercapnia related to positional changes of the body during sleep requiring frequent adjustment of pacer settings. Overnight polysomnography was performed to titrate DP settings that showed adequate gas exchange in the supine position, but intermittent hypoxemia and hypercapnia were noted in the left decubitus position without obstructive sleep apnea occurring. Subsequently, the DP amplitude settings were increased during polysomnography, thereby identifying and treating positional hypoxemia and hypercapnia in various body positions. Our case emphasizes the importance of polysomnography in children with CCHS using DP to monitor for sleep-disordered breathing and titration of DP settings to achieve optimal oxygenation and ventilation with different body positions during sleep.