Management of Tumefactive Demyelination
High-dose corticosteroids are the first-line treatment for tumefactive demyelination, followed by plasma exchange or IVIG if there is inadequate response, with consideration for rituximab in refractory cases. 1
Diagnostic Approach
- MRI with contrast of brain, orbit, cervical, and thoracic spinal cord is essential for diagnosis and to rule out other conditions 1
- Lumbar puncture with CSF analysis should include:
- Autoimmune encephalitis panel and oligoclonal bands
- CNS demyelinating disease antibodies (aquaporin-4 and myelin oligodendrocyte glycoprotein)
- Viral PCRs, especially JCV PCR to exclude progressive multifocal leukoencephalopathy 1
- Serum studies should include B12, HIV, RPR, ANA, Ro/La, TSH, aquaporin-4 IgG, paraneoplastic panels, and thyroid function tests 1
- Brain biopsy may be considered in cases with atypical presentation to exclude neoplasm or infection 2, 3
Acute Management Algorithm
First-line Treatment
- High-dose intravenous methylprednisolone (1 g daily for 3-5 days) 1, 4
- For severe or progressing symptoms, consider pulse corticosteroids (methylprednisolone 1 g IV daily for 3-5 days) 1
- Taper steroids following acute management over at least 4-6 weeks 1
Second-line Treatment (if inadequate response to steroids)
- Plasma exchange therapy or IVIG 2 g/kg over 5 days (0.4 g/kg/d) 1
- For patients with severe mass effect and impending herniation, decompressive craniectomy may be considered as a life-saving measure 5, 6
Third-line Treatment (for refractory cases)
- Rituximab should be considered if positive for autoimmune encephalopathy or paraneoplastic antibody or if there is limited or no improvement with first and second-line treatments 1, 4
- Cyclophosphamide may be considered for aggressive disease with poor response to corticosteroids and plasma exchange failure 4
Long-term Management
- The approach to long-term management depends on whether the patient meets criteria for multiple sclerosis or other demyelinating disorders 3
- For recurrent tumefactive demyelinating lesions, B-cell-directed therapies (rituximab) have shown high effectiveness 4
- Regular neurological follow-up and monitoring with MRI is recommended to detect early signs of recurrence 4
Special Considerations
- Tumefactive demyelination can be categorized into different phenotypes based on clinical/radiological findings and disease course, which may guide treatment strategies 4
- Patients with a history of demyelinating disease should not receive TNF-α inhibitors as they can exacerbate the condition 1
- For patients who develop symptoms of demyelination while on TNF-α therapy, discontinuation of therapy is suggested 1
Prognosis
- Clinical outcomes vary widely, from complete recovery to persistent neurological deficits 6, 4
- Factors associated with poor outcomes include extensive lesions, delayed initiation of therapy (>2 weeks), and severe neurological deficits at presentation 1
- Most patients show significant improvement with appropriate and timely treatment 4