Creutzfeldt-Jakob Disease Mimicking Transient Brain Ischemia in a Patient with a Mitral Valve Prosthesis-A Case Report.

Background and Clinical Significance: Creutzfeldt-Jakob disease (CJD) is a rare and fatal neurodegenerative disorder caused by prion protein misfolding. The disease poses significant diagnostic challenges, particularly when its initial symptoms mimic other conditions, such as transient ischemic attacks. Early recognition and differentiation from other neurological conditions are critical, as misdiagnosis may lead to unnecessary interventions. This case highlights a unique presentation of CJD in a male Caucasian patient with a history of cardiac surgery and mitral valve prosthesis, emphasizing the role of multidisciplinary evaluation in complex neurological cases. Case Presentation: A male patient in his mid-sixties with a history of mitral valve mechanical prosthesis and prior infective endocarditis presented with progressive cognitive decline, memory impairment, and episodes of confusion. Initial cardiovascular investigations suggested mitral valve prosthesis thrombosis, while neurological assessment pointed toward transient brain ischemia. However, brain imaging remained inconclusive. Given the rapid deterioration of cognitive and motor functions, further diagnostic workup was performed. MRI findings revealed cortical diffusion restrictions consistent with probable CJD. Despite symptomatic management, the patient's condition worsened, leading to akinetic mutism and death within eight days of diagnosis.

Conclusions

This case underscores the diagnostic complexity of CJD, particularly when initial symptoms overlap with transient ischemic events. It highlights the importance of comprehensive neuroimaging and an interdisciplinary approach in recognizing atypical neurodegenerative diseases to improve diagnostic accuracy and patient management.