Clinical Description of Ten Pediatric Patients with Clinical Signs of ROHHAD-NET Syndrome and Review of the Literature
Authors' conclusion
High clinical suspicion and early recognition are essential for a prompt diagnosis, timely initiation of respiratory support, and reduction of morbidity and mortality. Larger cohorts are needed for better characterization of this syndrome and to further elucidate its etiology.
Study context
- Population
- Pediatric patients with ROHHAD-NET syndrome followed at a single tertiary centre, 2007–2024
- Participants
- 10 medical records
- Outcome
- Clinical features of ROHHAD-NET
Methodological detailssingle-centre, literature review
- Single-centre
- Literature review
Main finding
As reported in the abstract
- Rapid-onset obesity (first clinical sign), mean age at onset
- all 10 patients; 5.1 ± 1.8 years
- Neurobehavioral disorders, mean age at onset
- 5 cases; 5 ± 1 years
- Respiratory symptoms, mean age at onset
- all patients; 7.4 ± 3 years
- Obstructive sleep apnea syndrome
- 6 patients, incl. 2 with alveolar central hypoventilation
- Required ventilatory support
- 7 patients
- Hypothalamic dysfunction, mean age at onset
- all patients; 6.6 ± 1.3 years
- Disorders of water balance (most frequent hypothalamic manifestation)
- n = 10
- Autonomic dysregulation, mean age at onset
- entire cohort; 6.7 ± 2.3 years
- Strabismus (most common autonomic sign)
- n = 6
- Neural crest tumors (ganglioneuromas), mean age at onset
- 5 patients; 5.4 ± 1.3 years
- Tumor location: adrenal gland / mediastinum
- n = 2 / n = 3
Observational data: associations, not effects.
Further findings
Treatment and outcome
Patients
- IV immunoglobulin as compassionate therapy, without significant benefit
- 3
- Deaths
- 3
- All patients received symptomatic treatment
Original publication
Clinical Description of Ten Pediatric Patients with Clinical Signs of ROHHAD-NET Syndrome and Review of the Literature. Horm Res Paediatr. Published 21 October 2025. doi:10.
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