1242 An Adult with ROHHAD Disease

Abstract

Abstract Introduction Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is an extremely rare and fatal disease presenting in early childhood. Report of Case A 25-year-old male, seen in our adult sleep clinic to establish care at the age of 21. He was previously followed by pediatric sleep department. He was diagnosed with ROHHAD syndrome in early childhood after presenting at the age of 18 months. At the time, he was diagnosed with central hypoventilation with multiple endocrinopathies. He was noted to have mild mental retardation and behavioral problems. He was initially worked up for multiple genetic disorders and was eventually diagnosed with ROHHAD syndrome. As a pediatric patient, he had a CPAP titration study that was unsuccessful with persistent central apneas. Eventually, he was treated with auto-SV (with minimum and maximum pressure support of 1 and +15 respectively, an EPAP max of +20, and EPAP min of +5). He has since been doing well with ASV. He also had insomnia and hypersomnia and is being treated with Modafinil for excessive daytime sleepiness and Zolpidem for the insomnia. Conclusion The mortality related to cardiorespiratory arrest in ROHHAD disease has been estimated to be 40-50%. To our knowledge, case reports of adult patients with ROHHAD in literature, are few and far between.