Stereotactic brain biopsy of John Cunningham virus-polymerase chain reaction-negative progressive multifocal leukoencephalopathy: a case report

Abstract

Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating disease of the central nervous system caused by the John Cunningham virus (JCV). It typically occurs in patients with advanced HIV infection. We report the case of a 31-year-old male patient who presented with symptoms of dizziness, dysarthria, ataxia, and diplopia, and was subsequently diagnosed with HIV/AIDS. Despite the negative JCV-polymerase chain reaction (PCR) results on cerebrospinal fluid (CSF) analysis, brain magnetic resonance imaging revealed characteristic features of PML. Therefore, a brain biopsy was performed, which revealed lymphohistiocytic infiltration and perivascular lymphoid cuffing, along with positive immunohistochemical staining for SV40, a JC viral protein. After the diagnosis of PML, the patient developed immune reconstitution inflammatory syndrome, and corticosteroids were administered. Our case emphasizes that negative JCV-PCR results on CSF analysis do not necessarily rule out the diagnosis of PML. Clinicians should consider brain biopsy as a diagnostic tool for PML, even when CSF JCV-PCR results are negative. An early brain biopsy may be necessary to provide proper management to patients with PML.