1059 Lumbosacral Ganglioneuroma-Associated ROHHAD Syndrome and Pulmonary Hypertension

Abstract

Introduction Rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare diagnostic entity frequently associated with neural crest tumors and severe morbidity and mortality due to unrecognized hypoventilation and altered autonomic tone. We present a patient with some classic presenting features but delayed diagnosis and under-treated hypoventilation resulting in significant morbidity with development of pulmonary hypertension. Report of Case An 11-year-old morbidly obese (BMI 51.7 kg/m2) Chinese girl presented for evaluation of sleep-disordered breathing. Her weight dramatically increased at 3-years of age in spite of dietary and exercise interventions. An endocrinology evaluation at 8-years noted central hypothyroidism prompting hormone replacement, insulin resistance prompting metformin initiation, and potential adrenal insufficiency. Due to a history of snoring, a polysomnogram (PSG) performed at 9-years at an outside hospital showed severe obstructive sleep apnea (obstructive apnea hypopnea index [OAHI] of 21.4 events/hour, SpO2 nadir 81%, max ETCO2 55 torr with 41% of total sleep time with ETCO2 greater than 50 torr. At age 10 years, she was noted to have scoliosis and leg-length discrepancy for which imaging demonstrated (and later biopsy-proven) a left psoas lumbosacral ganglioneuroma. Based on the constellation of symptoms, a diagnosis of ROHHAD was made. Continuous positive airway pressure (CPAP) was started for her presumed OSA, but given the severity of hypoventilation, we repeated the PSG with a PAP titration at our institution. The PSG recapitulated severely elevated OAHI which prompted BPAP initiation due to treatment-emergent central apneas on higher CPAP pressures. The patient was referred to cardiology for concerns of right heart strain in setting of chronic hypoventilation due to ROHHAD; echocardiogram while awake showed right-sided pressures approximately half that of systemic pressures, confirming a diagnosis of pulmonary hypertension. Daytime hypercapneic ventilatory response test demonstrated blunted response to increasing CO2 values. She was initiated on a phosphodiesterase inhibitor for her pulmonary hypertension. Conclusion Early diagnosis with a high index of suspicion, vigilant monitoring and optimization of ventilatory support is paramount in patients with central hypoventilation disorders such as ROHHAD, as severe consequences such as pulmonary hypertension may develop and pose future, severe health risks to patients. Support n/a