Neuromyelitis Optica Spectrum Disorder Mimicking Pontine Stroke: A Case Report and Systematic Literature Review

Abstract

Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disorder that was first described in the late 1800s as a variant of multiple sclerosis (MS). However, it has recently been categorized, as a disease, especially with the discovery of aquaporin-4 (AQP4-Ab) and myelin oligodendrocyte glycoprotein antibodies (MOG-Ab). Unfortunately, patient presentation is not always clear, and NMOSD may initially be diagnosed as an alternative neurological disease. We present a 58-year-old woman who was hospitalized several times for what was initially perceived as a pontine stroke. However, given worsening symptoms, serologic testing confirmed AQP4-Ab positivity and, subsequently, the NMOSD diagnosis. In addition to the case report, a systematic literature review was performed to identify NMOSD cases initially misdiagnosed as stroke. Publications were selected and curated in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Six NMOSD patients were initially thought to have had acute strokes. However, steady progression and/or the recurrence of symptoms suggested that further investigations with neuroimaging studies and serological immune assays were necessary to exclude alternative etiologies. Notably, the age at onset in all cases was significantly more advanced than patients with typical NMOSD presentations (median age 32-41). In conclusion, the NMOSD diagnosis should be considered in cases with atypical stroke-like presentations, particularly those of later onset (defined as equal to or greater than 50 years of age). This is important as early recognition and treatment with immune therapies can improve functional outcomes.