Long-Term Survival after Progressive Multifocal Leukoencephalopathy in a Patient with Primary Immune Deficiency and
Emke Maréchal1,2, Karolien Beel3, Roel Crols4,5
1Department of Neurology, ZNA Middelheim, Lindendreef 1, 2020, Antwerp, Belgium. emke.marechal@zna.be.
Purpose:
To describe the development of progressive multifocal leukoencephalopathy (PML) in a patient with primary immune deficiency (PID) due to a NFKB1 (nuclear factor kB subunit 1) mutation, who was treated successfully with a combination of mirtazapine and mefloquine.
Methods:
We've based the treatment of our patient on literature research and provide a review of PML in CVID patients.
Results:
Only a few reports have been published on the occurrence of PML in PID. PML is mainly observed in patients with reduced cellular immunity, which was not the case in our patient. Successful treatment options in this population are limited. Though severely disabled, our patient still survives, more than 4 years after symptom onset and shows consistent improvement on MRI (magnetic resonance imaging) and CSF (cerebrospinal fluid) analysis.
Conclusion:
We conclude that some patients with PML might be treatable and can show long-term survival although neurological deficits remain. Involvement of humoral immunity in the pathogenesis of PML as well as the possible role of NFKB1 mutations in response to specific pathogens deserves further investigation.
Insights
Progressive multifocal leukoencephalopathy (PML) in a patient with primary immune deficiency (PID) due to a NFKB1 mutation was successfully treated with mirtazapine and mefloquine. This approach offers hope for long-term survival in select PML cases.
Area of Science:
- Neuroimmunology
- Infectious Diseases
- Genetics
Background:
- Progressive multifocal leukoencephalopathy (PML) is a rare and often fatal demyelinating disease of the central nervous system.
- PML is typically associated with profound cellular immunodeficiency, making its occurrence in primary immune deficiency (PID) rare.
- Limited treatment options exist for PML, particularly in immunocompromised patients.
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