Thinking Beyond Common Diagnoses: A Case Report of Creutzfeldt-Jakob Disease

Prion diseases are rare neurodegenerative disorders characterized by abnormal folding of prion proteins in the brain. Creutzfeldt-Jakob disease (CJD), is the most common prion disease in humans, typically presenting with neuropsychiatric manifestations, including dementia, behavioral abnormalities, and motor dysfunction. Diagnosis can be challenging because its nonspecific presentation overlaps with numerous other potential causes.

A 60-year-old man presented with altered mental status and progressive neurologic decline. After an extensive diagnostic evaluation, he was diagnosed with probably CJD. Management was primarily supportive and focused on symptom relief and patient comfort. The patient died shortly after the diagnosis was confirmed.

This case highlights the challenges of diagnosing CJD and underscores the value of System 1 and System 2 reasoning in navigating a broad differential diagnosis in patients presenting with altered mental status and rapidly progressive neurologic symptoms.