Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome: A Case Report

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare disease. To date, there have been only few reported cases of ROHHAD syndrome.
We report a 5-year-old- Iranian girl who had normal growth and development until her 4th year of life. At that time, the patient developed weight gain, constipation, coldness in the extremities, and hyperhidrosis. She first presented to our children’s hospital with a suspected mediastinal mass on chest radiography. After surgery and resection of the mass (a ganglioneuroblastoma), extubation was unsuccessful, with tachycardia and hypertension occurring after each attempt. After 48 days in the ICU, we were still unable to wean her from mechanical ventilation. Finally, based on the rapid weight gain, hypoventilation, hypothalamic dysfunction, and signs of autonomic dysregulation, the patient was diagnosed with ROHHAD syndrome.
Only a few case reports have described ROHHAD syndrome, and it is therefore difficult to manage. In children with rapid and early-onset obesity associated with hypothalamic-pituitary endocrine dysfunction, ROHHAD syndrome should be considered in the differential diagnosis.