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.