Evolving pituitary abnormalities in a child with newly diagnosed ROHHAD syndrome

Abstract

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is a rare pediatric disease with a high rate of morbidity and mortality. Most reported cases of ROHHAD demonstrate normal magnetic resonance imaging (MRI) findings despite hypothalamic-pituitary abnormalities; only a few describe interval structural changes. We describe a 17-month-old female with rapid-onset obesity, central hypothyroidism, and developmental delay who presented with polyuria and irritability. Laboratory evaluation confirmed central diabetes insipidus, and repeat MRI revealed loss of the posterior pituitary bright spot compared to a normal study five months earlier. She was treated with desmopressin and did not demonstrate any additional pituitary dysfunction. This case supports the need for close monitoring and follow up in children with suspicion of ROHHAD, as the clinical course has the potential to evolve quickly. Repeat imaging and hormonal evaluation are key in the early detection and management of disease progression. The evolving pituitary findings also suggest a possible autoimmune etiology of ROHHAD warranting further research into its pathogenesis and the need for biomarkers to assess disease progression.