A Case of Progressive Multifocal Leukoencephalopathy with Atypical Radiographic Appearance
Delaram Pourkalbassi1, Vineet Nadkarni2, McKethan Parker2, Saira Afzal2, Caitlin Brice2, Mansour Afshani2, Adriana Rodriguez2
1Neurology, Ross University School of Medicine, 2Cleveland Clinic Florida
Objective:
To describe a case of progressive multifocal leukoencephalopathy (PML) with unusual parenchymal lesions in a young male presenting with progressive hemiparesis.
Background:
PML is a rare, often fatal demyelinating disease of the central nervous system (CNS) caused by the JC virus in immunocompromised patients, commonly those with advanced HIV/AIDS. Symptoms include clumsiness, progressive weakness, visual or speech difficulties. Early diagnosis is challenging due to nonspecific clinical and radiographic presentations.
Design/Methods:

Case report and literature review.

Results:

A 29-year-old previously healthy male presented with three weeks of right lower extremity weakness, progressing to the right upper extremity. Neurological examination revealed right hemiparesis, right Babinski sign, and ataxic gait. Brain MRI showed large, patchy lesion in the left frontal lobe with mild enhancement, lesion in the right insula, well-demarcated lesions in bilateral basal ganglia/thalami with diffusion restriction, with additional smaller foci in the supratentorial white matter bilaterally. Spinal cord MRIs unremarkable. Initial HIV testing negative but repeat HIV testing positive and CD4 count was 58. Lumbar puncture showed protein of 49 mg without pleocytosis. CNS toxoplasmosis suspected. Empiric trimethoprim-sulfamethoxazole initiated for 6 weeks. He was re-admitted 3 days after for nausea and vomiting. CSF toxoplasma IgG, cytology, and flow cytometry negative, but CSF JCV PCR returned positive, concerning for HIV-associated PML. Antiretroviral therapy initiated. Patient deteriorated, with concern for immune reconstitution inflammatory syndrome; corticosteroids started. Repeat imaging showed progression of lesions in the cortex, white matter, and basal ganglia with necrosis and hemosiderin deposition. Differential diagnosis included CNS lymphoma and opportunistic infection. The basal ganglia involvement was atypical for PML, and lack of enhancement was atypical for lymphoma. Brain biopsy confirmed PML.

Conclusions:
PML can present subtly in immunocompromised individuals, with imaging findings that overlap with other opportunistic infections and neoplasms. High clinical suspicion and brain biopsy may be necessary for definitive diagnosis and early management.
10.1212/WNL.0000000000212763
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