1021 An 8-year-old child with ROHAAD syndrome and its comorbid association with narcolepsy, cardiomyopathy, and malignant catatonia

Abstract

Abstract Introduction Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare disease with an unknown etiology. It manifests with varying clinical signs making the diagnosis challenging. We present a case of ROHHAD syndrome with narcolepsy, heart failure with cardiomyopathy, and malignant catatonia. Report of case(s) An 8-year-old boy with speech and developmental delay presents to sleep clinic at 4 years of age, with snoring, witnessed apneas during sleep, daytime somnolence and obesity for evaluation of obstructive sleep apnea. At three years of age, he started to gain weight rapidly; with an increase in BMI from 26 to 30 over a period of few months. His weight gain was initially attributed to a high caloric diet and sedentary lifestyle. A baseline polysomnogram revealed mild obstructive sleep apnea without hypoxemia or hypoventilation (oRDI of 4.2, oxygen nadir 90%, CAI 1). Over time, he was admitted multiple times for hypernatremia, respiratory failure with hypoxemia and hypercapnia, psychosis, and fever of unknown origin. After a thorough evaluation, the diagnosis of ROHHAD was made based upon his history of rapid weight gain, hyperthermia, respiratory failure with hypercapnia, hypopituitarism, and hypothyroidism. During one of his admissions for altered mental status the patient manifested agitation, auditory and visual hallucinations, and excessive daytime sleepiness. Due to these behavioral changes, cerebral spinal fluid was obtained showing a hypocretin of < 50pg/ml. Based on the low hypocretin levels, daytime sleepiness, and hallucinations; a diagnosis of narcolepsy type 1 was made. He subsequently developed heart failure with severely dilated cardiomyopathy and depressed contractility. The patient was deemed not a candidate for heart transplant due to his underlying comorbidities. He unfortunately died at the age of 8 years due to complications from advanced heart failure. Conclusion ROHHAD is a rare and fatal disease that can manifest in several ways. ROHHAD with coexistent narcolepsy, malignant catatonia and cardiomyopathy is extremely rare presentation. Providers need to be aware of the varying clinical presentations and have a high index of suspicion in diagnosing this condition. Early diagnosis might improve the morbidity and mortality. Support (if any)