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

INTRODUCTION

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.

CASE PRESENTATION: 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.

CONCLUSION

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