ROHHAD Cases and Management Insights

The present study was conducted to present cases of rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) and to share insights on management strategies.

The study included patient records from the medical institution which were reviewed for individuals diagnosed with ROHHAD between July 2019 and June 2024, focusing on clinical features, treatments, and outcomes.

The results showed the following:

• Five patients were identified, with a median age of 4 years at presentation, all exhibiting rapid weight gain as the initial symptom. 
• Autonomic dysregulation and hyperprolactinemia were observed in all cases.
• Sleep disturbances affected 80% of patients, while 80% needed respiratory support. Additional complications included temperature instability (60%), dysnatremia (60%), pituitary hormone deficiencies (60%), behavioral issues (40%), and one case of a neuroectodermal tumor (20%). 
• Treatments included intravenous immunoglobulin (IVIg) for three patients without improvement, home BiPAP for one, and unilateral adrenalectomy for a ganglioneuroma in another.
• About 80% patient died during the follow-up period, with causes including sudden cardiorespiratory arrest and respiratory infections.

Managing ROHHAD warrants a comprehensive approach that addresses hormonal deficiencies, autonomic dysregulation, and monitoring for hypoventilation and neuroectodermal tumors. Early home respiratory support and vigilance for cardiac rhythm issues are crucial. More research is needed to assess the effectiveness of immunomodulatory treatments.

Source: Priyadarshini, S., Verma, A., Paul, P.G. et al. ROHHAD NET in Retrospect: Key Lessons Learned from Five Cases. Indian J Pediatr (2024). https://doi.org/10.1007/s12098-024-05291-y