Title : Diagnostic challenges in creutzfeldt-jakob disease: A case report of atypical presentation
Abstract:
Background and aims: Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative prion disorder often mimicking other neurological conditions including stroke. This case report highlights the diagnostic challenges in a patient with CJD initially presenting with non specific neurological symptoms
Methods: 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 CT imaging. Despite negative cultures and unremarkable initial lumbar puncture results, the patient's condition deteriorated rapidly. The patient exhibited acute confusion worsening over 2 days, billious vomiting, fever (39.1°C), generalized abdominal pain, persistent nausea, and decreased eating, drinking, and mobility. Initial differentials included stroke, hospital-acquired pneumonia, hepatic involvement, and urinary tract infection.
Results: Blood and urine cultures, CT head, and CTPA were inconclusive. MRI head revealed bilateral temporo-parietal cortical restricted diffusion, prompting neurological evaluation. The final diagnosis was confirmed by a positive RT-QuIC PCR test for CJD. Key diagnostic findings included clear colorless CSF with positive RT-QuIC PCR, elevated CRP (281) and WCC (15.2) with neutrophilia (14.1), and MRI showing bilateral temporo-parietal cortical restricted diffusion.
Conclusion: 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 timely diagnosis and management of this rare but devastating illness.
