VEXAS syndrome-associated tumefactive demyelination.

Area of Science:

• Neurology
• Immunology
• Genetics

Background:

• Vacuoles, E1 enzyme, X-linked (Xp11.3), autoinflammatory, somatic (VEXAS) syndrome is a recently identified adult-onset autoinflammatory disorder.
• Neurological manifestations of VEXAS syndrome are uncommon and less understood compared to its systemic effects.

Observation:

• A 58-year-old male with VEXAS syndrome presented with acute neurological decline, including hemiparesis and aphasia.
• Brain MRI revealed tumefactive demyelination, initially mimicking stroke or other inflammatory conditions.
• Biopsy confirmed tumefactive demyelination, and genetic testing later identified a UBA1 gene mutation, confirming VEXAS syndrome.

Findings:

• This case represents the first reported instance of VEXAS syndrome-associated central demyelination.
• The patient experienced significant neurological deficits, including hemiplegia and Broca's aphasia, despite treatment with corticosteroids.

Implications:

• This case underscores the importance of considering VEXAS syndrome in the differential diagnosis of adult-onset demyelinating disorders.
• Further investigation into the pathogenesis and molecular mimicry of VEXAS syndrome is crucial for understanding its neurological impact.
• Increased awareness and research are needed to improve the comprehension and management of VEXAS syndrome's cerebral pathology.