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 ch...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.展开更多
Relapsing polychondritis (RP) is a rare episodic and progressive inflammatory disease of presumed autoimmune etiology. The estimated incidence is 3.5 cases per million. Of these only 10% affect pediatric populations.
文摘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.
文摘Relapsing polychondritis (RP) is a rare episodic and progressive inflammatory disease of presumed autoimmune etiology. The estimated incidence is 3.5 cases per million. Of these only 10% affect pediatric populations.
