0981 Complex Sleep Apnea in a Patient with ROHHAD

Abstract

Abstract Introduction Rapid onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare disorder associated with sleep disordered breathing. Patients often have obstructive sleep apnea (OSA) and nocturnal hypoventilation (NH). We present a case with a unique sleep disordered breathing pattern demonstrating both severe central and obstructive sleep apnea demonstrated on two separate polysomnograms with no evidence of significant NH. Report of case(s) The patient is a now 8 year old girl who was initially diagnosed with ROHHAD in October 2020 at age 5 years with symptoms of rapid weight gain, hypothalamic dysfunction (hyperprolactinemia), and autonomic dysfunction (recurrent fever, and hypertension). Diagnostic polysomnography in May 2020 demonstrated severe OSA (oAHI 23.4/hr) as well as central sleep apnea (CAI 63.9/hr). The SaO2 nadir was 88% with 15 minutes spent below 90%. There was no evidence of NH, however the CO2 was greater than 50 mmHg for 9.5% of total sleep time. Subsequent titration study recommended BPAP ST of 14/10 cmH20 with back up rate (BUR) of 12 bpm. The patient had a repeat split night study in May of 2022 at age 7 years. During the diagnostic portion, she demonstrated persistent severe OSA (oAHI 39/hr) and central sleep apnea (CAI 21/hr). There was no evidence of NH with a max TCO2 of 50 mmHg and CO2 > 50 mmHg for 0.2% of total sleep time. BPAP ST of 18/10 cmH20 with BUR of 12 bpm led to resolution of obstructive and central apnea events. Conclusion ROHHAD remains a rare disease which is often associated with sleep disordered breathing. While there have been rare reports of CSA in ROHHAD, there have been none of this severity. CSA may be a representation of autonomic dysfunction, and previous literature has described central pauses in breathing in ROHHAD patients while awake. While she did not have evidence of hypoventilation on either polysomnogram, which is one of the hallmarks of this disease, it has been described that nocturnal hypoventilation may develop later in the course of the disease. Thus, it remains important to routinely screen patients with polysomnograms as their sleep disordered breathing evolves. Support (if any)