Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations

Area of Science:

• Neurology
• Immunology
• Genetics

Background:

• Rasmussen syndrome (RS) is a rare autoimmune condition causing progressive neurological deficits.
• RS typically presents with focal seizures in children, often leading to severe disability.

Observation:

• A 12-year-old girl initially diagnosed with RS exhibited atypical disease progression.
• Further investigations revealed a diagnosis of central nervous system (CNS) granulomatous disease.
• Genetic testing identified mutations in the NOD2/CARD15 gene.

Findings:

• The patient demonstrated a significant clinical improvement following treatment with infliximab.
• Infliximab, an anti-tumor necrosis factor-alpha agent, targeted the inflammatory pathways involved.

Implications:

• This case highlights the importance of considering alternative diagnoses in refractory RS cases.
• NOD2/CARD15 mutations may predispose individuals to CNS granulomatous disease presenting similarly to RS.
• Infliximab shows promise as an immune-modulatory therapy for refractory CNS granulomatous disease.