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Using Visual and Narrative Methods to Achieve Fair Process in Clinical Care
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ROHHAD NET in Retrospect: Key Lessons Learned from Five Cases.

Sukanya Priyadarshini1, Avadhesh Verma1, Praveen George Paul1

  • 1Division of Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

Indian Journal of Pediatrics
|December 25, 2024
PubMed
Summary

Rapid Onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic dysregulation (ROHHAD) is a severe condition. Management requires a multimodal approach, but outcomes remain poor, highlighting the need for further research.

Keywords:
Autonomic dysregulationHypothalamic dysfunctionHypothalamic obesityHypoventilationRapid onset obesity

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Area of Science:

  • Pediatric Endocrinology
  • Neurology
  • Genetics

Background:

  • Rapid Onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic dysregulation (ROHHAD) is a rare and severe pediatric disorder.
  • Characterized by rapid weight gain, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation.
  • Limited understanding of its pathophysiology and optimal management strategies.

Purpose of the Study:

  • To present cases of ROHHAD syndrome.
  • To discuss management insights and patient outcomes.
  • To highlight the challenges in diagnosing and treating this rare condition.

Main Methods:

  • Retrospective review of case records of patients diagnosed with ROHHAD.
  • Patients were identified from the Pediatric Endocrinology Division of All India Institute of Medical Sciences, New Delhi.
  • Data collected included clinical features, treatments administered, and patient outcomes.

Main Results:

  • Five patients (4 boys, 1 girl) presented with rapid weight gain at a median age of 4 years.
  • All patients exhibited autonomic dysregulation and hyperprolactinemia.
  • High mortality rate (80%) observed, with common causes including cardiorespiratory arrest and respiratory infections.

Conclusions:

  • ROHHAD management necessitates a multimodal strategy.
  • Early intervention with respiratory support and monitoring for complications like pituitary deficiencies and neuroectodermal tumors is crucial.
  • Further research is needed to explore immunomodulatory agents and improve patient outcomes.