Pearls & Oy-sters: Beyond the Bone Marrow-VEXAS Syndrome Presenting as Subacute Encephalomyelitis.
Anna Ferrari, Ignazio Divenuto, Maria Sofia Martire et al.
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Case in brief
A 70-year-old man with myelodysplastic syndrome and confirmed VEXAS syndrome (UBA1 p.Met41Thr) developed subacute ascending paresthesia, Lhermitte sign, and urinary hesitancy. MRI showed multifocal T2-hyperintense lesions in the spinal cord and brain, with enhancement in some lesions. Cerebrospinal fluid had mild lymphocytic pleocytosis, elevated protein, and numerous CSF-restricted oligoclonal bands; infectious testing and aquaporin 4 and myelin oligodendrocyte glycoprotein antibodies were negative. High-dose intravenous methylprednisolone was followed by rapid clinical improvement. At 1 month, enhancement had resolved and spinal lesions had partially disappeared.
What made this case unusual
The case highlights inflammatory encephalomyelitis with spinal cord involvement in VEXAS, a neurologic manifestation described as poorly documented.
Diagnostic / clinical pearl
In a patient with VEXAS and myelopathic symptoms, multifocal inflammatory brain and spinal cord lesions with supportive CSF findings should prompt consideration of VEXAS-associated encephalomyelitis after evaluating for infection and other demyelinating conditions.