A rare and challenging case of ROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) syndrome

Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction and Autonomic Dysregulation is a rare and complex pediatric syndrome with unknown etiology. The disease hallmark is sudden and severe obesity in early childhood, with a later onset of central hypoventilation, responsible for high mortality. We present the case of a 2.5-year-old boy with sudden weight gain starting after 12 months of age (18 kg in a year) and hypoventilation in the setting of acute nasopharyngitis, requiring Non-Invasive Ventilation (NIV) initiation. Additionally, he presented symptoms and signs of autonomic disturbance, neurodevelopmental delay and behavior disorders. High prolactin, leptin and insulin were also present. Despite periodic adjustment of settings and adherence to NIV and great efforts to control food intake, he remained morbidly obese and died during an infectious intercurrence at 6 years of age. This case illustrates the challenging diagnosis and treatment/management of this rare syndrome, which can have a variable and not always complete presentation and has no specific diagnostic test available. Identifying hypoventilation and NIV treatment is essential to decrease morbimortality. However, most patients do not live past ten years old.