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Progressive Multifocal Leukoencephalopathy in the Absence of Typical Radiological Changes: Can We Make a Diagnosis?
Abdulrahman M AlTahan1, Thomas Berger2, Ibrahim A AlOrainy3
1Department of Neurology, King Saud University, Riyadh, Saudi Arabia.
The American Journal of Case Reports
|January 25, 2019
Summary
Early John Cunningham polyoma virus (JCV) DNA testing is crucial for diagnosing progressive multifocal leukoencephalopathy (PML) in multiple sclerosis (MS) patients, even with atypical MRI findings, to ensure timely treatment and improve outcomes.
Area of Science:
- Neuroimmunology
- Infectious Diseases
- Radiology
Background:
- Progressive multifocal leukoencephalopathy (PML) is a severe opportunistic infection impacting multiple sclerosis (MS) patients, with increased incidence linked to disease-modifying therapies.
- Early diagnosis of PML is critical due to high morbidity and mortality, with brain magnetic resonance imaging (MRI) playing a key role.
Observation:
- A 32-year-old female MS patient on fingolimod presented with neurological deterioration and atypical MRI findings, initially treated as an MS relapse.
- Despite treatment, her condition worsened, prompting consideration of PML despite non-characteristic radiological presentation.
Findings:
- Cerebrospinal fluid analysis confirmed John Cunningham polyoma virus (JCV) DNA presence, leading to PML diagnosis and fingolimod cessation.
- Subsequent immune reconstitution inflammatory syndrome (IRIS) required further treatment with steroids and immunoglobulin, leading to patient stabilization and improvement.
Implications:
- This case highlights the importance of JCV DNA testing for PML diagnosis in at-risk MS patients, irrespective of typical MRI findings.
- Prompt diagnosis and management are essential for improving outcomes in PML patients, particularly those on immunomodulatory therapies.
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