Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD)

Abstract

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare disorder, which can result in cardiorespiratory arrest if not diagnosed and managed in a timely manner. There is no genetic test for ROHHAD at present, but a CCHS-related PHOX2B mutation excludes the diagnosis of ROHHAD. Any previously healthy and non-obese child who rapidly gains 20–30 pounds over 3–6 months, between the ages of 2–7 years, followed by evidence of sequential endocrine abnormalities, should be evaluated for evidence of ROHHAD. It is important to evaluate the child for any evidence of hypoventilation during wakefulness and sleep at presentation and then at 2–3 month intervals, as the hypoventilation component of the phenotype unfolds rapidly. If unrecognized, and artificial ventilation during sleep (and in a subset during wakefulness and sleep) is not provided promptly, the child will be at risk for morbidity and/or cardiorespiratory arrest. Echocardiography should be performed every 6 months to evaluate for cor pulmonale and/or right ventricular hypertrophy due to anticipated intermittent hypoxia. 72-h Holter monitoring should be performed every 6 months to evaluate for severe bradycardia. Screening for neural crest tumors should also be done every 3–6 months, especially early in the ROHHAD phenotype. The patient with ROHHAD will need to have close physiologic monitoring of ventilatory status, artificial ventilation with continuous oximetry and capnography in the home with a highly trained registered nurse at the bedside, serial evaluation for endocrine abnormalities, and aggressive management of weight. At present there is currently no cure for ROHHAD; however, with optimal management, disease burden can be reduced for children with ROHHAD.