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ROHHAD-NET Syndrome: A Case Series.

Dhanya Soodhana1, Manjula Subramaniya Iyer2, Joe George3

  • 1Department of Endocrinology, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India.

Journal of the ASEAN Federation of Endocrine Societies
|May 26, 2025
PubMed
Summary
This summary is machine-generated.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD-NET) is a rare, fatal condition. Early diagnosis and awareness are crucial due to its varied presentation and lack of a definitive test.

Keywords:
ROHHADcentral hypoventilationneural crest tumorobesity

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Area of Science:

  • Pediatrics
  • Endocrinology
  • Genetics

Background:

  • Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD-NET) is a rare, potentially fatal pediatric condition.
  • Early recognition and diagnosis are critical for managing ROHHAD-NET, a disease with significant morbidity and mortality.

Observation:

  • This report details the first three cases of ROHHAD-NET diagnosed in India.
  • All affected children presented with rapid weight gain after 18 months of age, followed by symptoms of hypothalamic dysfunction.
  • Clinical presentations varied, including incidental neural crest tumors, persistent hypernatremia, and intestinal obstruction.

Findings:

  • Hypothalamic dysfunction in ROHHAD-NET can manifest as endocrine abnormalities (e.g., hyperprolactinemia, growth hormone deficiency, central hypothyroidism/adrenal insufficiency, puberty disorders) and water-electrolyte imbalances.
  • The diagnostic process for ROHHAD-NET is challenging due to the absence of a specific diagnostic test and the wide spectrum of vague symptoms.
  • Distinguishing ROHHAD-NET from other genetic obesity syndromes requires an individualized approach.

Implications:

  • Increased awareness among clinicians is essential for timely diagnosis and management of ROHHAD-NET.
  • The varied clinical manifestations highlight the need for a comprehensive, multidisciplinary approach to patient care.
  • Further research is needed to develop reliable diagnostic tools and effective therapeutic strategies for ROHHAD-NET.