1034 A Rare Case of ROHHAD Syndrome

Abstract

Introduction Early diagnosis of pediatric syndromes that are rare and involve multiple systems can be challenging. Rapid onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysregulation characterizes ROHHAD syndrome which, if undiagnosed, can lead to potentially harmful outcomes including deferring radiological workup for a neural crest tumor (which has an over 50% association) and cardiopulmonary arrest. Report of case(s) A 10-year-old female with a history of obesity, precocious puberty, recurrent hypothermia, recurrent sodium derangements, bilateral ptosis, seizure disorder, and GERD initially presented to sleep clinic as a 4-year-old in 2017 when she recently began snoring with excessive daytime sleepiness as a result of rapid onset of weight gain. BMI at that time was 99th percentile and Epworth was 11. An in-lab polysomnography revealed severe OSA with AHI 26.4 events/hour; nocturnal hypoxemia with TS90 27% and O2 nadir 70%; and sleep related hypoventilation based on elevated pCO2 on end-tidal capnometry. Patient underwent adenotonsillectomy, revision adenoidectomy, and was started on CPAP before transitioning to BiPAP over the span of the next several years with serial polysomnographies ultimately showing significant improvement of sleep apnea with AHI 5.4 events/hour. Sleep-related hypoventilation, however, remained persistent with blood gases showing pCO2 as high as 89. PHOX2B gene testing was negative and secondary causes of hypoventilation were ruled out. During this time, she was also followed by Endocrinology for suspected hypothalamic dysfunction resulting in precocious puberty, deceleration of growth rate, sodium derangements. Autonomic dysfunction was also suspected due to recurrent hypothermia including a recent admission for Temperature < 95F and ophthalmologic abnormalities including bilateral ptosis. At a multidisciplinary care conference, a working diagnosis of ROHHAD syndrome was made based on the rapid onset of obesity, hypoventilation on sleep studies and CBGs, hypothalamic dysfunction, and autonomic degeneration. Workup for neural crest tumor with MRI chest and abdomen unremarkable. Outside academic consultation was sought for management which recommended shared decision-making regarding steroids, immunosuppressive therapy (eg rituximab, cyclophosphamide), and IVIG. Conclusion For ROHHAD syndrome, there are very few documented cases in the United States and there is no known laboratory marker; diagnosis remains clinical and takes multidisciplinary collaboration, education, and a high degree of suspicion. Support (if any)