Rhombencephalitis in a patient with VEXAS syndrome

Background

VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently described rare novel autoinflammatory syndrome characterized by systemic inflammatory and hematological symptoms. Based on reported cases thus far, central nervous system involvement is exceptionally infrequent.

Case report

A 77-year-old man had a five-year medical history of chronic fluctuating fever, weight loss, skin lesions, and dyshematopoiesis. He presented with acute headache, vomiting, and generalized weakness, and in the following days, he also developed dysarthria, diplopia, and rapidly decreasing consciousness. Investigations showed brainstem encephalitis with no evidence of concurrent infection. Despite treatment with high-dose Solu-Medrol, the patient died 20 days after hospitalization. Genetic screening confirmed the diagnosis of VEXAS syndrome.

Conclusion

This case presents a rare case of rhombencephalitis in a patient with VEXAS syndrome. There is a wide array of etiologies in rhombencephalitis, and clinicians may need to consider VEXAS syndrome in the diagnostic work-up if there is a history of systemic inflammatory symptoms.