Misdiagnosed Progressive Multifocal Leukoencephalopathy (PML) in an HIV-Negative Patient With Discoid Lupus: A Case Report

Progressive multifocal leukoencephalopathy (PML) is a rare fetal disease that has been uprising since the 1980s. Accurate diagnosis can be challenging and requires a thorough clinical suspicion, particularly among individuals who do not have HIV infection. Further diagnostics studies including cerebrospinal fluid analysis are required for DNA polymerase chain reaction (PCR) and if negative, more invasive tests like Brain biopsy are required. Herein, we describe a rare case of a 64-year-old female with a history of discoid lupus for 30 years who was not on any medications and presented to the hospital multiple times with different neurological deficits. The initial diagnosis consistently pointed toward a stroke until a critical turning point when a cerebrospinal fluid sample tested positive for John Cunningham (JC) virus DNA. Unfortunately, by the time the disease was identified, it had already progressed significantly, resulting in the unfortunate demise of the patient. To our knowledge, this represents the second reported case of PML in a patient with discoid lupus who lacks other commonly observed risk factors for the disease. This finding underscores the significance of maintaining clinical attentiveness within this specific patient population.