A Rapid Cognitive and Motor Decline: A Case of Misdiagnosed Sporadic Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disorder that leads to rapid cognitive decline, dementia, and neurological deterioration. CJD has several forms, including sporadic CJD (sCJD), which accounts for most cases, and variant CJD (vCJD), linked to exposure to bovine spongiform encephalopathy (BSE or mad cow disease). The disease is caused by abnormal prion proteins, which damage the brain and lead to death. CJD is universally fatal, with no cure, and most cases are fatal within a few months to a year after diagnosis. We present a 64-year-old woman with a four-week history of progressive yet sudden decline in cognitive function and memory loss. There was associated decline in motor function, slumped posture, and an unsteady gait. Key findings included rapid cognitive impairment, apraxia, ataxia, hyperreflexia, and hypertonia. After extensive diagnostic examinations, including magnetic resonance imaging (MRI) head and cerebrospinal fluid real-time quaking-induced conversion (CSF RT-QuIC), she was diagnosed with sporadic Creutzfeldt-Jakob disease using criteria set by the national CJD research and surveillance unit (NCJDRSU). MRI head showed multifocal cortical ribboning on diffusion-weighted imaging and borderline right caudate hyperintensity. Unfortunately, there is no cure for CJD, and treatment is purely supportive with palliative care input, family counseling, and anticipatory medications. Her symptoms worsened quickly, and she passed away eight weeks after the onset.