Pearls & Oy-sters: Beyond the Bone Marrow-VEXAS Syndrome Presenting as Subacute Encephalomyelitis

Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease caused by acquired somatic UBA1 mutations, typically presenting with systemic inflammation and myelodysplastic syndrome. Although infrequent, neurologic manifestations can include peripheral neuropathy, stroke, or encephalopathy. Notably, spinal cord involvement remains poorly documented. Here, we present the case of a 70-year-old man with myelodysplastic syndrome and confirmed VEXAS (UBA1 p.Met41Thr) presenting with subacute ascending paresthesia, Lhermitte sign, and urinary hesitancy suggestive of myelopathy. 3T MRI demonstrated multifocal T2-hyperintense spinal cord and brain lesions, some with contrast enhancement, consistent with inflammatory encephalomyelitis. CSF analysis showed mild lymphocytic pleocytosis (33 cells/µL), elevated protein (55 mg/dL), and numerous CSF-restricted oligoclonal bands. Negative infectious PCR testing and the absence of aquaporin 4 and myelin oligodendrocyte glycoprotein antibodies argued against infection or other inflammatory demyelinating condition. The patient received high-dose intravenous methylprednisolone (1 g/d for 3 days), resulting in rapid clinical improvement. Follow-up MRI performed 1 month after presentation showed resolution of contrast enhancement and partial disappearance of spinal T2 hyperintense lesions.