Hereditary Creutzfeldt-Jakob Disease: A Case Presentation of a Rare Stroke Mimic.

ABSTRACT

Acute ischemic cerebrovascular accident (CVA) is a time-sensitive emergent diagnosis, requiring rapid diagnosis and consideration of thrombolytic administration. However, a myriad of cerebrovascular mimics creates a diagnostic challenge. A rare CVA mimic is Creutzfeldt-Jakob disease (CJD), a rapidly progressive fatal dementia due to protein misfolding. Magnetic resonance imaging (MRI) and neurology consultation for electroencephalogram (EEG) and specialized cerebrospinal fluid (CSF) studies are diagnostic while the patient is alive. All forms are fatal within months, and diagnosis can be confirmed on postmortem brain testing. While incredibly uncommon, emergency clinicians should consider this diagnosis in the proper patient to advocate for specialized CSF testing and potential palliative care consultation.