Pediatric-Onset Neuromyelitis Optica Spectrum Disorder: Long-term Follow-up and Therapeutic Challenges in a Treatment-Resistant Case.

Abstract

Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition primarily affecting the optic nerve and spinal cord, often resulting in significant disability. This case study follows a 40-year-old female patient with pediatric-onset neuromyelitis optica spectrum disorder, initially misdiagnosed with multiple sclerosis, which led to inappropriate treatment and exacerbated her condition. Over the years, the patient received multiple immunosuppressive therapies-including azathioprine, rituximab, and tocilizumab-with limited clinical efficacy. The introduction of eculizumab, combined with azathioprine, eventually improved her disease control, albeit with some relapses. This case highlights the challenges in managing treatment-resistant neuromyelitis optica spectrum disorder and underscores the importance of accurate diagnosis and tailored therapies to improve long-term outcomes for patients. Ongoing research and personalized treatment strategies are crucial for effectively managing refractory cases.