ROHHAD NET in Retrospect: Key Lessons Learned from Five Cases

Objectives: To present cases of rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) and discuss management insights.

Methods: Case records of patients fulfilling the criteria for ROHHAD and presenting to the Pediatric Endocrinology Division of All India Institute of Medical Sciences, New Delhi, between July 2019 and June 2024 were reviewed for clinical features, treatments, and outcomes.

Results: Five patients (4 boys, 1 girl) presented at a median age of 4 y (range 3.3-6) with rapidly progressive weight gain as the initial symptom. Autonomic dysregulation and hyperprolactinemia were present in all patients (100%). Sleep disturbances were noted in 4 patients (80%), respiratory support was required for 4 patients (80%), temperature instability in 3 (60%), dysnatremia in 3 (60%), pituitary hormone deficiencies in 3 (60%), behavioral issues in 2 (40%), and neuroectodermal tumor (NET) in 1 patient (20%). Treatment included IVIg for 3 patients with no improvement, home BiPAP support for 1 patient, and unilateral adrenalectomy for a ganglioneuroma in another. Four (80%) patients died during follow-up (mean age at death 5 y); 1 due to sudden cardiorespiratory arrest, and 3 from respiratory tract infections.

Conclusions: ROHHAD management requires a multimodal approach, addressing pituitary hormone deficiencies, autonomic dysregulation, and screening for hypoventilation and NETs. Emphasis should be on early home respiratory support and monitoring for cardiac rhythm disturbances. Further studies are needed to evaluate the efficacy of immunomodulatory agents.