Pulmonary hypertension and chronic hypoventilation in ROHHAD syndrome treated with average-volume assured pressure support.

Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is an exceptionally rare clinical entity with significant morbidity and high mortality with challenging-to-treat hypoventilation.

Methods: An 11-year-old morbidly obese Chinese female presented with a putative diagnosis of ROHHAD associated with a left psoas ganglioneuroma. Initial polysomnography showed severe obstructive sleep apnea and hypoventilation. She was not adherent to prescribed non-invasive positive pressure ventilation (NIPPV). Echocardiography demonstrated evidence of pulmonary hypertension, likely secondary to chronic hypoventilation. With behavioral modification and trial of average volume-assured pressure support (AVAPS), adherence improved with eventual improvement of her pulmonary hypertension.

Conclusions: AVAPS may improve ventilation and NIPPV adherence in central hypoventilation disorders such as ROHHAD, reducing risk of morbidity and mortality.