Pediatric Radiologically Isolated Syndrome (RIS): A Case with Active Disease 18 Years Later

Area of Science:

• Neurology
• Neuroimmunology
• Pediatric Neurology

Background:

• Radiologically isolated syndrome (RIS) involves incidental MRI findings of CNS demyelination in asymptomatic individuals.
• RIS is rare in pediatric populations, and optimal management, including early use of high-efficacy disease-modifying therapies (DMTs), is debated.
• This case highlights the challenges in managing pediatric RIS with high radiological activity.

Purpose of the Study:

• To report a case of pediatric radiologically isolated syndrome (RIS).
• To evaluate the long-term efficacy and safety of early high-efficacy disease-modifying therapy (DMT) in a pediatric RIS patient.
• To discuss the potential benefits of proactive treatment in high-risk pediatric RIS.

Main Methods:

• Case report of a 12-year-old girl with incidental brain MRI findings.
• Assessment included cerebrospinal fluid oligoclonal bands and radiological evidence of dissemination in space and time.
• Initiation of natalizumab in 2009 due to rapid radiological worsening despite corticosteroid treatment.

Main Results:

• The patient remained clinically asymptomatic with no new MRI lesions over 18 years of continuous natalizumab therapy.
• Sustained efficacy and excellent safety profile of natalizumab observed.
• The patient maintained a high quality of life, completing medical school and residency.

Conclusions:

• Early intervention with a high-efficacy DMT (natalizumab) prevented clinical conversion to multiple sclerosis (MS) in pediatric RIS.
• Long-term follow-up supports the sustained efficacy and safety of natalizumab in this high-risk case.
• Proactive treatment may be beneficial for pediatric patients diagnosed with high-risk RIS.