Rituximab therapy in ROHHAD(NET) syndrome

Area of Science:

• Pediatric endocrinology
• Neuroimmunology
• Rare disease research

Background:

• Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation, and neural-crest tumour (ROHHAD(NET)) is a rare, severe childhood syndrome.
• Diagnosis relies on clinical presentation, lacking specific biomarkers, with an autoimmune etiology suggested.
• Current management is primarily supportive, highlighting the need for novel therapeutic approaches.

Observation:

• A 5-year-old female presented with respiratory arrest following rapid weight gain.
• She exhibited central hypoventilation, central diabetes insipidus, growth hormone deficiency, and hyperprolactinemia.
• Elevated interleukin-6 levels were noted, which normalized post-rituximab therapy.

Findings:

• Rituximab treatment resulted in significant weight reduction, from above the 99.6th to the 50th percentile within 12 months.
• The normalization of interleukin-6 suggests a potential role for immune-inflammatory processes in ROHHAD(NET).

Implications:

• This case suggests an immune-inflammatory pathology may drive excess adiposity in ROHHAD(NET).
• Rituximab may offer therapeutic benefits for prognosis and survival in patients with autoimmune-mediated ROHHAD(NET).
• Further research into autoimmune dysregulation in ROHHAD(NET) is warranted to explore targeted immunotherapies.