Diagnostic Challenges in Creutzfeldt-Jakob Disease: A Case Report of an Atypical Presentation

TL;DR

This case report describes a rare and challenging diagnosis of Creutzfeldt-Jakob disease that initially resembled a stroke or infection.

Contribution

The paper highlights the diagnostic difficulties of atypical CJD presentations and emphasizes the role of RT-QuIC testing and MRI.

Findings

CJD was confirmed using RT-QuIC PCR despite initial negative CSF and blood tests.

MRI showed bilateral temporo-parietal cortical restricted diffusion, a key imaging finding.

Elevated inflammatory markers and rapid clinical decline were observed despite negative cultures.

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative prion disorder that often mimics other neurological conditions, including stroke. This case report highlights the diagnostic challenges in a patient with CJD initially presenting with nonspecific neurological symptoms.

A 70-year-old male with a history of bladder cancer, hypertension, osteoarthritis, and migraines presented with acute confusion, fever, and nonspecific symptoms. Initial evaluation revealed altered mental status, elevated inflammatory markers, and chest consolidation on computed tomography (CT) imaging. Despite negative blood cultures and cerebrospinal fluid (CSF) analysis, the patient's condition deteriorated rapidly. The patient exhibited acute confusion worsening over two days, bilious vomiting, fever (39.1°C), generalized abdominal pain, persistent nausea, and decreased eating, drinking, and mobility. Initial differentials included posterior-circulation stroke, hospital-acquired pneumonia, and urinary tract infection.

Blood and urine cultures, CT of the head, and CT pulmonary angiography were inconclusive. Magnetic resonance imaging (MRI) of the head revealed bilateral temporo-parietal cortical restricted diffusion, prompting neurological evaluation. The final diagnosis was confirmed by a positive real-time quaking-induced conversion (RT-QuIC) polymerase chain reaction (PCR) test for CJD. Key diagnostic findings included clear colorless CSF with positive RT-QuIC PCR, elevated C-reactive protein (281 mg/L) and white cell count (15.2 x 10ˆ9/L) with neutrophilia (14.1 x10ˆ9/L), and MRI showing bilateral temporo-parietal cortical restricted diffusion.

This case underscores the importance of considering CJD in patients presenting with atypical neurological symptoms, even when initial presentations suggest more common conditions like stroke. Early recognition, appropriate neuroimaging, and specialized tests like RT-QuIC are crucial for the timely diagnosis and management of this rare but devastating illness.

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