Related Experiment Video
Updated: Mar 19, 2026
Quantifying Cognitive Decrements Caused by Cranial Radiotherapy
Published on: October 18, 2011
Improved Behavior and Neuropsychological Function in Children With ROHHAD After High-Dose Cyclophosphamide
Lisa A Jacobson1, Shruti Rane2, Lisa J McReynolds3
1Department of Neuropsychology, Kennedy Krieger Institute, Baltimore, Maryland; and Department of Psychiatry and Behavioral Sciences, and jacobson@kennedykrieger.org.
Insights
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare syndrome. Cyclophosphamide treatment showed symptomatic and neuropsychological improvement in two children, suggesting an autoimmune cause.
Area of Science:
- Pediatric Endocrinology
- Neuroimmunology
- Rare Diseases
Background:
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare, progressive, and potentially fatal syndrome.
- Its etiology remains unclear, presenting with rapid hyperphagic weight gain, hypothalamic dysfunction, and central hypoventilation.
Observation:
- Two pediatric patients with ROHHAD syndrome were treated with high-dose cyclophosphamide.
- The treatment led to notable symptomatic and neuropsychological improvements in both children.
Findings:
- The observed improvements suggest a potential autoimmune pathogenesis underlying ROHHAD syndrome.
- This study provides the first neuropsychological profile of patients diagnosed with this rare condition.
Implications:
- High-dose cyclophosphamide may be a therapeutic option for select ROHHAD patients.
- Further research into autoimmune mechanisms is warranted to understand and treat ROHHAD syndrome effectively.
Abstract:
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare, generally progressive, and potentially fatal syndrome of unclear etiology. The syndrome is characterized by normal development followed by a sudden, rapid hyperphagic weight gain beginning during the preschool period, hypothalamic dysfunction, and central hypoventilation, and is often accompanied by personality changes and developmental regression, leading to substantial morbidity and mortality. We describe 2 children who had symptomatic and neuropsychological improvement after high-dose cyclophosphamide treatment. Our experience supports an autoimmune pathogenesis and provides the first neuropsychological profile of patients with rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation.
