3 Key Takeaways
Plain English Summary- 01Core Finding
Although infrequent, neurologic manifestations can include peripheral neuropathy, stroke, or encephalopathy.
- 02Study Evidence
Study design used a clinical case insight protocol to track clinical outcomes.
- 03Practical Meaning
Benefits and risks vary by individual health history — discuss with a healthcare professional.
What This Means for You
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.
The Discovery
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.
How It Works, Simply
This neurology research focuses on inflammation · Antibodies · Enzyme. Researchers evaluated it using a standard-of-care clinical practice · Clinical case insight at the clinical practice stage of medical research.
3 Key Takeaways
Clinical Takeaways- 01Core Finding
Although infrequent, neurologic manifestations can include peripheral neuropathy, stroke, or encephalopathy.
- 02Study Evidence
Study design used a clinical case insight protocol to track clinical outcomes.
- 03Practical Meaning
Benefits and risks vary by individual health history — discuss with a healthcare professional.
Biological Mechanism & Study Design
Study Design & Cohort
Clinical case insight
Standard-of-care clinical practice · Clinical case insight · Clinical Practice
Biological Pathway & Modality
Inflammation · Antibodies · Enzyme
Intervention: Pearls & Oy-sters: Beyond the Bone Marrow-VEXAS Syndrome Presenting as Subacute
Experimental Findings & Endpoints
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.
Clinical Translation & Practice Context
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.
The Bottom Line · Clinical Pearl
“Follow-up MRI performed 1 month after presentation showed resolution of contrast enhancement and partial disappearance of spinal T2 hyperintense lesions.”
Published in Neurology · Current Stage: Clinical Practice
